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    FGFR2 fibroblast growth factor receptor 2 [ Homo sapiens (human) ]

    Gene ID: 2263, updated on 16-Jun-2013
    Official Symbol
    FGFR2provided by HGNC
    Official Full Name
    fibroblast growth factor receptor 2provided by HGNC
    Primary source
    HGNC:3689
    See related
    Ensembl:ENSG00000066468; HPRD:01492; MIM:176943; Vega:OTTHUMG00000019175
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BEK; JWS; BBDS; CEK3; CFD1; ECT1; KGFR; TK14; TK25; BFR-1; CD332; K-SAM
    Summary
    The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]
    Location :
    10q26
    Sequence :
    Chromosome: 10; NC_000010.10 (123237844..123357972, complement)
    See FGFR2 in Epigenomics, MapViewer

    Chromosome 10 - NC_000010.10Genomic Context describing neighboring genes Neighboring gene WDR11 antisense RNA 1 Neighboring gene WD repeat domain 11 Neighboring gene ribosomal protein L19 pseudogene 16 Neighboring gene ribosomal protein S15a pseudogene 5 Neighboring gene arginyltransferase 1

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Acrocephalosyndactyly type I

    Summary from GeneReviews: Craniosynostosis Syndromes, FGFR-Related Go to GeneReviews

    Disease Characteristics
    The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.Pro250Arg mutation in FGFR3). Muenke syndrome and FGFR2-related isolated coronal synostosis are characterized only by uni- or bicoronal craniosynostosis; the remainder are characterized by bicoronal craniosynostosis or cloverleaf skull, distinctive facial features, and variable hand and foot findings.
    Diagnosis Testing
    The diagnosis of Muenke syndrome is based on identification of the p.Pro250Arg mutation in FGFR3; the diagnosis of FGFR2-related isolated coronal synostosis is based on identification of a FGFR2 disease-causing mutation. The diagnosis of the other six FGFR-related craniosynostosis syndromes is based on clinical findings; molecular genetic testing of FGFR1, FGFR2, and FGFR3 may be helpful in establishing the specific diagnosis in questionable cases.
    Genetic Counseling
    The FGFR-related craniosynostosis syndromes are inherited in an autosomal dominant manner. Affected individuals have a 50% chance of passing the disease-causing mutation to each child. Prenatal testing for pregnancies at increased risk is possible if the disease-causing mutation has been identified in the family; however, its use is limited by poor predictive value.
    References

    Antley-Bixler syndrome

    Summary from GeneReviews: Cytochrome P450 Oxidoreductase Deficiency Go to GeneReviews

    Disease Characteristics
    Cytochrome P450 oxidoreductase (POR) deficiency is a disorder of steroidogenesis with a phenotypic spectrum ranging from cortisol deficiency at the milder end to classic Antley-Bixler syndrome (ABS) at the severe end. Cortisol deficiency can range from clinically insignificant to life threatening; manifestations can include ambiguous genitalia in both males and females; primary amenorrhea and enlarged cystic ovaries in females; poor masculinization during puberty in males; and maternal virilization during pregnancy with an affected fetus. Manifestations of ABS include craniosynostosis; hydrocephalus; distinctive facies; choanal stenosis or atresia; low-set dysplastic ears with stenotic external auditory canals; skeletal anomalies (radiohumeral synostosis, neonatal fractures, congenital bowing of the long bones, joint contractures, arachnodactyly, clubfeet); renal anomalies (ectopic kidneys, duplication of the kidneys, renal hypoplasia, horseshoe kidney, hydronephrosis); and reduction of cognitive function and developmental delay. In moderate POR deficiency, craniofacial and skeletal anomalies are less severe than in ABS.
    Diagnosis Testing
    Diagnosis of POR deficiency depends on detection of sterol or steroid abnormalities using gas chromatography-mass spectrometry. Urinary steroid anomalies include increased concentration of metabolites of pregnenolone and progesterone and an elevated ratio of metabolites associated with deficiencies of 17-hydroxylase and 21-hydroxylase. POR deficiency is caused by mutations in POR. .
    Genetic Counseling
    POR deficiency is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk family members and prenatal testing for pregnancies at increased risk are possible through laboratories offering either testing for the gene of interest or custom testing.
    References

    Crouzon syndrome

    Summary from GeneReviews: Craniosynostosis Syndromes, FGFR-Related Go to GeneReviews

    Disease Characteristics
    The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.Pro250Arg mutation in FGFR3). Muenke syndrome and FGFR2-related isolated coronal synostosis are characterized only by uni- or bicoronal craniosynostosis; the remainder are characterized by bicoronal craniosynostosis or cloverleaf skull, distinctive facial features, and variable hand and foot findings.
    Diagnosis Testing
    The diagnosis of Muenke syndrome is based on identification of the p.Pro250Arg mutation in FGFR3; the diagnosis of FGFR2-related isolated coronal synostosis is based on identification of a FGFR2 disease-causing mutation. The diagnosis of the other six FGFR-related craniosynostosis syndromes is based on clinical findings; molecular genetic testing of FGFR1, FGFR2, and FGFR3 may be helpful in establishing the specific diagnosis in questionable cases.
    Genetic Counseling
    The FGFR-related craniosynostosis syndromes are inherited in an autosomal dominant manner. Affected individuals have a 50% chance of passing the disease-causing mutation to each child. Prenatal testing for pregnancies at increased risk is possible if the disease-causing mutation has been identified in the family; however, its use is limited by poor predictive value.
    References

    Cutis Gyrata syndrome of Beare and Stevenson

    Summary from GeneReviews: Craniosynostosis Syndromes, FGFR-Related Go to GeneReviews

    Disease Characteristics
    The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.Pro250Arg mutation in FGFR3). Muenke syndrome and FGFR2-related isolated coronal synostosis are characterized only by uni- or bicoronal craniosynostosis; the remainder are characterized by bicoronal craniosynostosis or cloverleaf skull, distinctive facial features, and variable hand and foot findings.
    Diagnosis Testing
    The diagnosis of Muenke syndrome is based on identification of the p.Pro250Arg mutation in FGFR3; the diagnosis of FGFR2-related isolated coronal synostosis is based on identification of a FGFR2 disease-causing mutation. The diagnosis of the other six FGFR-related craniosynostosis syndromes is based on clinical findings; molecular genetic testing of FGFR1, FGFR2, and FGFR3 may be helpful in establishing the specific diagnosis in questionable cases.
    Genetic Counseling
    The FGFR-related craniosynostosis syndromes are inherited in an autosomal dominant manner. Affected individuals have a 50% chance of passing the disease-causing mutation to each child. Prenatal testing for pregnancies at increased risk is possible if the disease-causing mutation has been identified in the family; however, its use is limited by poor predictive value.
    References

    Isolated coronal synostosis

    Summary from GeneReviews: Craniosynostosis Syndromes, FGFR-Related Go to GeneReviews

    Disease Characteristics
    The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.Pro250Arg mutation in FGFR3). Muenke syndrome and FGFR2-related isolated coronal synostosis are characterized only by uni- or bicoronal craniosynostosis; the remainder are characterized by bicoronal craniosynostosis or cloverleaf skull, distinctive facial features, and variable hand and foot findings.
    Diagnosis Testing
    The diagnosis of Muenke syndrome is based on identification of the p.Pro250Arg mutation in FGFR3; the diagnosis of FGFR2-related isolated coronal synostosis is based on identification of a FGFR2 disease-causing mutation. The diagnosis of the other six FGFR-related craniosynostosis syndromes is based on clinical findings; molecular genetic testing of FGFR1, FGFR2, and FGFR3 may be helpful in establishing the specific diagnosis in questionable cases.
    Genetic Counseling
    The FGFR-related craniosynostosis syndromes are inherited in an autosomal dominant manner. Affected individuals have a 50% chance of passing the disease-causing mutation to each child. Prenatal testing for pregnancies at increased risk is possible if the disease-causing mutation has been identified in the family; however, its use is limited by poor predictive value.
    References

    Jackson-Weiss syndrome

    Summary from GeneReviews: Craniosynostosis Syndromes, FGFR-Related Go to GeneReviews

    Disease Characteristics
    The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.Pro250Arg mutation in FGFR3). Muenke syndrome and FGFR2-related isolated coronal synostosis are characterized only by uni- or bicoronal craniosynostosis; the remainder are characterized by bicoronal craniosynostosis or cloverleaf skull, distinctive facial features, and variable hand and foot findings.
    Diagnosis Testing
    The diagnosis of Muenke syndrome is based on identification of the p.Pro250Arg mutation in FGFR3; the diagnosis of FGFR2-related isolated coronal synostosis is based on identification of a FGFR2 disease-causing mutation. The diagnosis of the other six FGFR-related craniosynostosis syndromes is based on clinical findings; molecular genetic testing of FGFR1, FGFR2, and FGFR3 may be helpful in establishing the specific diagnosis in questionable cases.
    Genetic Counseling
    The FGFR-related craniosynostosis syndromes are inherited in an autosomal dominant manner. Affected individuals have a 50% chance of passing the disease-causing mutation to each child. Prenatal testing for pregnancies at increased risk is possible if the disease-causing mutation has been identified in the family; however, its use is limited by poor predictive value.
    References

    Pfeiffer syndrome

    Summary from GeneReviews: Craniosynostosis Syndromes, FGFR-Related Go to GeneReviews

    Disease Characteristics
    The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.Pro250Arg mutation in FGFR3). Muenke syndrome and FGFR2-related isolated coronal synostosis are characterized only by uni- or bicoronal craniosynostosis; the remainder are characterized by bicoronal craniosynostosis or cloverleaf skull, distinctive facial features, and variable hand and foot findings.
    Diagnosis Testing
    The diagnosis of Muenke syndrome is based on identification of the p.Pro250Arg mutation in FGFR3; the diagnosis of FGFR2-related isolated coronal synostosis is based on identification of a FGFR2 disease-causing mutation. The diagnosis of the other six FGFR-related craniosynostosis syndromes is based on clinical findings; molecular genetic testing of FGFR1, FGFR2, and FGFR3 may be helpful in establishing the specific diagnosis in questionable cases.
    Genetic Counseling
    The FGFR-related craniosynostosis syndromes are inherited in an autosomal dominant manner. Affected individuals have a 50% chance of passing the disease-causing mutation to each child. Prenatal testing for pregnancies at increased risk is possible if the disease-causing mutation has been identified in the family; however, its use is limited by poor predictive value.
    References

    Saethre-Chotzen syndrome

    Summary from GeneReviews: Saethre-Chotzen Syndrome Go to GeneReviews

    Disease Characteristics
    Classic Saethre-Chotzen syndrome (SCS) is characterized by coronal synostosis (unilateral or bilateral), facial asymmetry (particularly in individuals with unilateral coronal synostosis), ptosis, and characteristic appearance of the ear (small pinna with a prominent crus). Syndactyly of digits two and three of the hand is variably present. Intelligence is usually normal, although those with large genomic deletions are more likely to have developmental delays. Less common manifestations of SCS include short stature, parietal foramina, vertebral fusions, radioulnar synostosis, cleft palate, maxillary hypoplasia, ocular hypertelorism, hallux valgus, duplicated distal hallucal phalanx, and congenital heart malformations.
    Diagnosis Testing
    The diagnosis of SCS is primarily based on clinical findings. TWIST1 is the only gene in which mutations are known to cause SCS. Occasionally, affected individuals have a chromosome translocation involving 7p21 or ring chromosome 7.
    Genetic Counseling
    SCS is inherited in an autosomal dominant manner. Many individuals diagnosed with SCS have an affected parent; the proportion of cases caused by a de novo mutation is unknown. Each child of an individual with SCS has a 50% chance of inheriting the mutation. Prenatal diagnosis for pregnancies at increased risk is possible if the disease-causing mutation has been identified in the family; however, requests for prenatal testing for conditions such as SCS are not common.
    References

    NHGRI GWAS Catalog

    show more
    Products Interactant Other Gene Complex Source Pubs Description
    P21802 Q01668 CACNA1D    HPRD  PubMed  
    P21802 P54764 EPHA4    HPRD  PubMed  
    P21802 P05230 FGF1    HPRD  PubMed  
    P21802 O15520 FGF10    HPRD  PubMed  
    P21802 O60258 FGF17    HPRD  PubMed  
    P21802 O76093 FGF18    HPRD  PubMed  
    P21802 Q9GZV9 FGF23    HPRD  PubMed  
    P21802 P11487 FGF3    HPRD  PubMed  
    P21802 P08620 FGF4    HPRD  PubMed  
    P21802 P12034 FGF5    HPRD  PubMed  
    P21802 P10767 FGF6    HPRD  PubMed  
    P21802 P21781 FGF7    HPRD  PubMed  
    P21802 P55075 FGF8    HPRD  PubMed  
    P21802 P31371 FGF9    HPRD  PubMed  
    P21802 P08648 ITGA5    HPRD  PubMed  
    P21802 O96013 PAK4    HPRD  PubMed  
    P21802 P19174 PLCG1    HPRD  PubMed  
    P21802 Q14289 PTK2B    HPRD  PubMed  
    BioGRID:108554 BioGRID:106848 APP    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108554 BioGRID:107315 CBL    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108554 BioGRID:108537 FGF1    BioGRID  PubMed Co-crystal Structure; Reconstituted Complex 
    BioGRID:108554 BioGRID:108546 FGF10    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108554 BioGRID:108543 FGF7    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108554 BioGRID:108554 FGFR2    BioGRID  PubMed Co-crystal Structure 
    BioGRID:108554 BioGRID:116031 FRS2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108554 BioGRID:108810 FYN    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108554 BioGRID:114593 HGS    BioGRID  PubMed Affinity Capture-Western; Co-localization 
    BioGRID:108554 BioGRID:109884 ITGA5    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108554 BioGRID:110245 LYN    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108554 BioGRID:110811 NEDD4    BioGRID  PubMed Biochemical Activity; Reconstituted Complex 
    BioGRID:108554 BioGRID:111260 PGR    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108554 BioGRID:111313 PIK3R1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108554 BioGRID:111489 PPM1A    BioGRID  PubMed Two-hybrid 
    BioGRID:108554 BioGRID:112651 STAT3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108554 BioGRID:112653 STAT5A    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108554 BioGRID:112654 STAT5B    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108554 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-Western 
    • Activated point mutants of FGFR2, organism-specific biosystem (from REACTOME)
      Activated point mutants of FGFR2, organism-specific biosystemAutosomal dominant mutations in FGFR2 are associated with the development of a range of skeletal disorders including Beare-Stevensen cutis gyrata syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome, ...
    • Adaptive Immune System, organism-specific biosystem (from REACTOME)
      Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
    • Angiogenesis, organism-specific biosystem (from WikiPathways)
      Angiogenesis, organism-specific biosystemThis pathway is a concise and simplified version of the basic proteins involved in angiogenesis. The proces is regulated by hyopoxia, which results in the transcription of eg. VEGF1, FGF2, PDGFbeta, ...
    • Constitutive PI3K/AKT Signaling in Cancer, organism-specific biosystem (from REACTOME)
      Constitutive PI3K/AKT Signaling in Cancer, organism-specific biosystemClass IA PI3K is a heterodimer of a p85 regulatory subunit (encoded by PIK3R1, PIK3R2 or PIK3R3) and a p110 catalytic subunit (encoded by PIK3CA, PIK3CB or PIK3CD). In the absence of activating signa...
    • DAP12 interactions, organism-specific biosystem (from REACTOME)
      DAP12 interactions, organism-specific biosystemDNAX activation protein of 12kDa (DAP12) is an immunoreceptor tyrosine-based activation motif (ITAM)-bearing adapter molecule that transduces activating signals in natural killer (NK) and myeloid cel...
    • DAP12 signaling, organism-specific biosystem (from REACTOME)
      DAP12 signaling, organism-specific biosystemIn response to receptor ligation, the tyrosine residues in DAP12's immunoreceptor tyrosine-based activation motif (ITAM) are phosphorylated by Src family kinases. These phosphotyrosines form the dock...
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Downstream Signaling Events Of B Cell Receptor (BCR), organism-specific biosystem (from REACTOME)
      Downstream Signaling Events Of B Cell Receptor (BCR), organism-specific biosystemSecond messengers (calcium, diacylglycerol, inositol 1,4,5-trisphosphate, and phosphatidyinositol 3,4,5-trisphosphate) trigger signaling pathways: NF-kappaB is activated via protein kinase C beta, RA...
    • Downstream signal transduction, organism-specific biosystem (from REACTOME)
      Downstream signal transduction, organism-specific biosystemThe role of autophosphorylation sites on PDGF receptors are to provide docking sites for downstream signal transduction molecules which contain SH2 domains. The SH2 domain is a conserved motif of aro...
    • Downstream signaling of activated FGFR, organism-specific biosystem (from REACTOME)
      Downstream signaling of activated FGFR, organism-specific biosystemSignaling via FGFRs is mediated via direct recruitment of signaling proteins that bind to tyrosine auto-phosphorylation sites on the activated receptor and via closely linked docking proteins that be...
    • Endocytosis, organism-specific biosystem (from KEGG)
      Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • Endocytosis, conserved biosystem (from KEGG)
      Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • FGF signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
      FGF signaling pathway, organism-specific biosystem
      FGF signaling pathway
    • FGFR ligand binding and activation, organism-specific biosystem (from REACTOME)
      FGFR ligand binding and activation, organism-specific biosystemThe FGFs are a family of 22 secreted glycoproteins that are sequestered in the extracellular matrix (ECM) through their interaction with heparin and heparin sulphate proteoglycans (HSPGs). Release o...
    • FGFR2 ligand binding and activation, organism-specific biosystem (from REACTOME)
      FGFR2 ligand binding and activation, organism-specific biosystemDominant mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have been identified as causes of four phenotypically distinct craniosynostosis syndromes, including Crouzon, Jackson- Weiss...
    • FGFR2b ligand binding and activation, organism-specific biosystem (from REACTOME)
      FGFR2b ligand binding and activation, organism-specific biosystemThis pathway depicts the binding of an experimentally-verified range of ligands to FGFR2b. While binding affinities may vary considerably within this set, the ligands listed have been established to ...
    • FGFR2c ligand binding and activation, organism-specific biosystem (from REACTOME)
      FGFR2c ligand binding and activation, organism-specific biosystemThis pathway depicts the binding of an experimentally-verified range of ligands to FGFR2c. While binding affinities may vary considerably within this set, the ligands listed have been established to ...
    • FRS2-mediated cascade, organism-specific biosystem (from REACTOME)
      FRS2-mediated cascade, organism-specific biosystemThe FRS family of scaffolding adaptor proteins has two members, FRS2alpha and FRS2beta (also known as FRS3 or SNT-2). Activation of FGFR tyrosine kinase allows FRS2 proteins to become phosphorylated...
    • GAB1 signalosome, organism-specific biosystem (from REACTOME)
      GAB1 signalosome, organism-specific biosystemGAB1 is recruited to the activated EGFR indirectly, through GRB2. GAB1 acts as an adaptor protein that enables formation of an active PIK3, through recruitment of PIK3 regulatory subunit PIK3R1 (also...
    • IGF1R signaling cascade, organism-specific biosystem (from REACTOME)
      IGF1R signaling cascade, organism-specific biosystemAfter autophosphorylation the type 1 insulin-like growth factor receptor (IGF1R) binds and phosphorylates scaffold proteins, IRS1/2/4 and SHC1, which in turn bind effectors possessing enzymatic activ...
    • IRS-mediated signalling, organism-specific biosystem (from REACTOME)
      IRS-mediated signalling, organism-specific biosystemRelease of phospho-IRS from the insulin receptor triggers a cascade of signalling events via PI3K, SOS, RAF and the MAP kinases.
    • IRS-related events, organism-specific biosystem (from REACTOME)
      IRS-related events, organism-specific biosystemIRS is one of the mediators of insulin signalling events. It is activated by phosphorylation and triggers a cascade of events involving PI3K, SOS, RAF and the MAP kinases. The proteins mentioned unde...
    • IRS-related events triggered by IGF1R, organism-specific biosystem (from REACTOME)
      IRS-related events triggered by IGF1R, organism-specific biosystemThe phosphorylated type 1 insulin-like growth factor receptor phosphorylates IR1, IRS2, IRS4 and possibly other IRS/DOK family members (reviewed in Pavelic et al. 2007, Chitnis et al. 2008, Maki et a...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Insulin receptor signalling cascade, organism-specific biosystem (from REACTOME)
      Insulin receptor signalling cascade, organism-specific biosystemAutophosphorylation of the insulin receptor triggers a series of signalling events, mediated by SHC or IRS, and resulting in activation of the Ras/RAF and MAP kinase cascades. A second effect of the ...
    • MAPK signaling pathway, organism-specific biosystem (from KEGG)
      MAPK signaling pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • MAPK signaling pathway, conserved biosystem (from KEGG)
      MAPK signaling pathway, conserved biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • MicroRNAs in cardiomyocyte hypertrophy, organism-specific biosystem (from WikiPathways)
      MicroRNAs in cardiomyocyte hypertrophy, organism-specific biosystemThis pathway shows the role of microRNAs in the process of cardiac hypertrophy. MicroRNA targets were predicted by the TargetScan algorithm, and the predicted interactions are shown in red dashed lin...
    • NGF signalling via TRKA from the plasma membrane, organism-specific biosystem (from REACTOME)
      NGF signalling via TRKA from the plasma membrane, organism-specific biosystemTrk receptors signal from the plasma membrane and from intracellular membranes, particularly from early endosomes. Signalling from the plasma membrane is fast but transient; signalling from endosomes...
    • Negative regulation of FGFR signaling, organism-specific biosystem (from REACTOME)
      Negative regulation of FGFR signaling, organism-specific biosystemOnce activated, the FGFR signaling pathway is regulated by numerous negative feedback mechanisms. These include downregulation of receptors through CBL-mediated ubiquitination and endocytosis, ERK-m...
    • Neural Crest Differentiation, organism-specific biosystem (from WikiPathways)
      Neural Crest Differentiation, organism-specific biosystemGene regulatory network model of cranial neural crest cell (CNCC) development, adaped from PMID: 19575671. Most interactions in the model are proposed to regulate transcription of core factors involv...
    • PI-3K cascade, organism-specific biosystem (from REACTOME)
      PI-3K cascade, organism-specific biosystemThe ability of growth factors to protect from apoptosis is primarily due to the activation of the AKT survival pathway. P-I-3-kinase dependent activation of PDK leads to the activation of AKT which i...
    • PI3K Cascade, organism-specific biosystem (from REACTOME)
      PI3K Cascade, organism-specific biosystem
      PI3K Cascade
    • PI3K events in ERBB2 signaling, organism-specific biosystem (from REACTOME)
      PI3K events in ERBB2 signaling, organism-specific biosystemERBB2:ERBB3 and ERBB2:ERBB4cyt1 heterodimers activate PI3K signaling by direct binding of PI3K regulatory subunit p85 (Yang et al. 2007, Cohen et al. 1996, Kaushansky et al. 2008) to phosphorylated t...
    • PI3K events in ERBB4 signaling, organism-specific biosystem (from REACTOME)
      PI3K events in ERBB4 signaling, organism-specific biosystemThe CYT1 isoforms of ERBB4 possess a C-tail tyrosine residue that, upon trans-autophosphorylation, serves as a docking site for the p85 alpha subunit of PI3K - PIK3R1 (Kaushansky et al. 2008, Cohen e...
    • PI3K-Akt signaling pathway, organism-specific biosystem (from KEGG)
      PI3K-Akt signaling pathway, organism-specific biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
    • PI3K-Akt signaling pathway, conserved biosystem (from KEGG)
      PI3K-Akt signaling pathway, conserved biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
    • PI3K/AKT Signaling in Cancer, organism-specific biosystem (from REACTOME)
      PI3K/AKT Signaling in Cancer, organism-specific biosystemThis pathway describes how normal signaling by PI3K/AKT, presented in the contained module 'PIP3 Activates AKT Signaling' and recently reviewed by Manning and Cantley in 2007, is perturbed in cancer,...
    • PI3K/AKT activation, organism-specific biosystem (from REACTOME)
      PI3K/AKT activation, organism-specific biosystemPI3K/AKT signalling is a major regulator of neuron survival. It blocks cell death by both impinging on the cytoplasmic cell death machinery and by regulating the expression of genes involved in cell...
    • PIP3 activates AKT signaling, organism-specific biosystem (from REACTOME)
      PIP3 activates AKT signaling, organism-specific biosystemSignaling by AKT is one of the key outcomes of receptor tyrosine kinase (RTK) activation. AKT is activated by the cellular second messenger PIP3, a phospholipid that is generated by PI3K. In ustimula...
    • Pathways in cancer, organism-specific biosystem (from KEGG)
      Pathways in cancer, organism-specific biosystem
      Pathways in cancer
    • Phospholipase C-mediated cascade, organism-specific biosystem (from REACTOME)
      Phospholipase C-mediated cascade, organism-specific biosystemPhospholipase C-gamma (PLC-gamma) is a substrate of the fibroblast growth factor receptor (FGFR) and other receptors with tyrosine kinase activity. It is known that the src homology region 2 (SH2 dom...
    • Prostate cancer, organism-specific biosystem (from KEGG)
      Prostate cancer, organism-specific biosystemProstate cancer constitutes a major health problem in Western countries. It is the most frequently diagnosed cancer among men and the second leading cause of male cancer deaths. The identification of...
    • Prostate cancer, conserved biosystem (from KEGG)
      Prostate cancer, conserved biosystemProstate cancer constitutes a major health problem in Western countries. It is the most frequently diagnosed cancer among men and the second leading cause of male cancer deaths. The identification of...
    • Regulation of Actin Cytoskeleton, organism-specific biosystem (from WikiPathways)
      Regulation of Actin Cytoskeleton, organism-specific biosystemhttp://www.genome.jp/kegg/pathway/hsa/hsa04810.html
    • Regulation of actin cytoskeleton, organism-specific biosystem (from KEGG)
      Regulation of actin cytoskeleton, organism-specific biosystem
      Regulation of actin cytoskeleton
    • Regulation of actin cytoskeleton, conserved biosystem (from KEGG)
      Regulation of actin cytoskeleton, conserved biosystem
      Regulation of actin cytoskeleton
    • SHC-mediated cascade, organism-specific biosystem (from REACTOME)
      SHC-mediated cascade, organism-specific biosystemThe exact role of SHC1 in FGFR signaling remains unclear. Numerous studies have shown that the p46 and p52 isoforms of SHC1 are phosphorylated in response to FGF stimulation, but direct interaction...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling Pathways in Glioblastoma, organism-specific biosystem (from WikiPathways)
      Signaling Pathways in Glioblastoma, organism-specific biosystemThe most frequently altered genes in glioblastoma. This pathway originally accompanied the 2008 Nature publication on the comprehensive genomic characterization of human glioblastoma genes and core p...
    • Signaling by EGFR, organism-specific biosystem (from REACTOME)
      Signaling by EGFR, organism-specific biosystemThe epidermal growth factor receptor (EGFR) is one member of the ERBB family of transmembrane glycoprotein tyrosine receptor kinases (RTK). Binding of EGFR to its ligands induces conformational chang...
    • Signaling by EGFR in Cancer, organism-specific biosystem (from REACTOME)
      Signaling by EGFR in Cancer, organism-specific biosystemThe pathway "Signaling by EGFR in Cancer" shows "Signaling by constitutively active EGFR" in parallel with "Signaling by EGFR". This allows users to compare signaling by constitutively active EGFR ca...
    • Signaling by ERBB2, organism-specific biosystem (from REACTOME)
      Signaling by ERBB2, organism-specific biosystemERBB2, also known as HER2 or NEU, is a receptor tyrosine kinase (RTK) belonging to the EGFR family. ERBB2 possesses an extracellular domain that does not bind any known ligand, contrary to other EGFR...
    • Signaling by ERBB4, organism-specific biosystem (from REACTOME)
      Signaling by ERBB4, organism-specific biosystemERBB4, also known as HER4, belongs to the ERBB family of receptors, which also includes ERBB1 (EGFR i.e. HER1), ERBB2 (HER2 i.e. NEU) and ERBB3 (HER3). Similar to EGFR, ERBB4 has an extracellular lig...
    • Signaling by FGFR, organism-specific biosystem (from REACTOME)
      Signaling by FGFR, organism-specific biosystemThe 22 members of the fibroblast growth factor (FGF) family of growth factors mediate their cellular responses by binding to and activating the different isoforms encoded by the four receptor tyrosin...
    • Signaling by FGFR in disease, organism-specific biosystem (from REACTOME)
      Signaling by FGFR in disease, organism-specific biosystemThe pathway 'Signaling by FGFR in disease' shows 'Signaling by FGFR mutants' in parallel with the wild-type pathway 'Signaling by FGFR', allowing users to compare disease and normal events. FGFR mut...
    • Signaling by FGFR mutants, organism-specific biosystem (from REACTOME)
      Signaling by FGFR mutants, organism-specific biosystemA number of skeletal and developmental diseases have been shown to arise as a result of mutations in the FGFR1, 2 and 3 genes. These include dwarfism syndromes (achondroplasia, hypochondroplasia and...
    • Signaling by FGFR2 amplification mutants, organism-specific biosystem (from REACTOME)
      Signaling by FGFR2 amplification mutants, organism-specific biosystemFGFR2 amplifications have been identified in 10% of gastric cancers, where they are associated with poor prognosis diffuse cancers (Hattori, 1996; Ueda, 1999; Shin, 2000; Kunii, 2008) , and in ~1% of...
    • Signaling by FGFR2 mutants, organism-specific biosystem (from REACTOME)
      Signaling by FGFR2 mutants, organism-specific biosystemThe FGFR2 gene has been shown to be subject to activating mutations and gene amplification leading to a variety of proliferative and developmental disorders depending on whether these events occur in...
    • Signaling by Insulin receptor, organism-specific biosystem (from REACTOME)
      Signaling by Insulin receptor, organism-specific biosystemInsulin binding to its receptor results in receptor autophosphorylation on tyrosine residues and the tyrosine phosphorylation of insulin receptor substrates (e.g. IRS and Shc) by the insulin receptor...
    • Signaling by PDGF, organism-specific biosystem (from REACTOME)
      Signaling by PDGF, organism-specific biosystemPlatelet-derived Growth Factor (PDGF) is a potent stimulator of growth and motility of connective tissue cells such as fibroblasts and smooth muscle cells as well as other cells such as capillary end...
    • Signaling by SCF-KIT, organism-specific biosystem (from REACTOME)
      Signaling by SCF-KIT, organism-specific biosystemStem cell factor (SCF) is a growth factor with membrane bound and soluble forms. It is expressed by fibroblasts and endothelial cells throughout the body, promoting proliferation, migration, survival...
    • Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R), organism-specific biosystem (from REACTOME)
      Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R), organism-specific biosystemBinding of IGF1 (IGF-I) or IGF2 (IGF-II) to the extracellular alpha peptides of the type 1 insulin-like growth factor receptor (IGF1R) triggers the activation of two major signaling pathways: the SOS...
    • Signaling by the B Cell Receptor (BCR), organism-specific biosystem (from REACTOME)
      Signaling by the B Cell Receptor (BCR), organism-specific biosystemMature B cells express IgM and IgD immunoglobulins which are complexed at the plasma membrane with Ig-alpha (CD79A, MB-1) and Ig-beta (CD79B, B29) to form the B cell receptor (BCR) (Fu et al. 1974, F...
    • Signalling by NGF, organism-specific biosystem (from REACTOME)
      Signalling by NGF, organism-specific biosystemNeurotrophins (NGF, BDNF, NT-3, NT-4/5) play pivotal roles in survival, differentiation, and plasticity of neurons in the peripheral and central nervous system. They are produced, and secreted in mi...

    Markers

    Homology

    Clone Names

    • FLJ98662

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    fibroblast growth factor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    fibroblast growth factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    fibroblast growth factor-activated receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    fibroblast growth factor-activated receptor activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    fibroblast growth factor-activated receptor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    heparin binding IEA
    Inferred from Electronic Annotation
    more info
     
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein tyrosine kinase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    angiogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    axonogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    bone development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    bone mineralization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    bone morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    branch elongation involved in salivary gland morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    branching involved in labyrinthine layer morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    branching involved in prostate gland morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    branching involved in salivary gland morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    branching morphogenesis of a nerve ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    bud elongation involved in lung branching ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell fate commitment ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell-cell signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    coronal suture morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    digestive tract development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    embryonic cranial skeleton morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    embryonic digestive tract morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    embryonic organ development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    embryonic organ morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    embryonic pattern specification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    endodermal digestive tract morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    epidermal growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    epidermis morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    epithelial cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    epithelial cell proliferation involved in salivary gland morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    fibroblast growth factor receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    fibroblast growth factor receptor signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    fibroblast growth factor receptor signaling pathway IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    fibroblast growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    fibroblast growth factor receptor signaling pathway involved in hemopoiesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    fibroblast growth factor receptor signaling pathway involved in mammary gland specification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    gland morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    hair follicle morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    in utero embryonic development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    innate immune response TAS
    Traceable Author Statement
    more info
     
    inner ear morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    insulin receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    lacrimal gland development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    lateral sprouting from an epithelium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    lens fiber cell development IEA
    Inferred from Electronic Annotation
    more info
     
    limb bud formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    lung alveolus development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    lung development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    lung lobe morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    lung-associated mesenchyme development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mammary gland bud formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    membranous septum morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mesenchymal cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mesenchymal cell differentiation involved in lung development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mesenchymal cell proliferation involved in lung development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    midbrain development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    morphogenesis of embryonic epithelium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    multicellular organism growth ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of mitosis IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription from RNA polymerase II promoter ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    neuromuscular junction development IEA
    Inferred from Electronic Annotation
    more info
     
    neurotrophin TRK receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    odontogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    orbitofrontal cortex development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    organ growth ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    organ morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    otic vesicle formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    outflow tract septum morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    peptidyl-tyrosine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phosphatidylinositol-mediated signaling TAS
    Traceable Author Statement
    more info
     
    positive regulation of ERK1 and ERK2 cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of MAPK cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of Wnt receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of canonical Wnt receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of cardiac muscle cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of cell cycle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of cell division ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cell proliferation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of epithelial cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of epithelial cell proliferation involved in lung morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of mesenchymal cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of phospholipase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    post-embryonic development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    prostate epithelial cord elongation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    prostate gland morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein autophosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    pyramidal neuron development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of ERK1 and ERK2 cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of branching involved in prostate gland morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of cell fate commitment ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of fibroblast growth factor receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of morphogenesis of a branching structure ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of multicellular organism growth ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of osteoblast differentiation TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of osteoblast proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of smooth muscle cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of smoothened signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    reproductive structure development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    skeletal system morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    squamous basal epithelial stem cell differentiation involved in prostate gland acinus development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    synaptic vesicle transport IEA
    Inferred from Electronic Annotation
    more info
     
    ureteric bud development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ventricular cardiac muscle tissue morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ventricular zone neuroblast division ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    cell cortex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasmic membrane-bounded vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    excitatory synapse ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    colocalizes_with extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    integral to membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    integral to plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    fibroblast growth factor receptor 2
    Names
    fibroblast growth factor receptor 2
    FGFR-2
    FGF receptor
    soluble FGFR4 variant 4
    bacteria-expressed kinase
    hydroxyaryl-protein kinase
    keratinocyte growth factor receptor
    BEK fibroblast growth factor receptor
    protein tyrosine kinase, receptor like 14
    NP_000132.3
    NP_001138385.1
    NP_001138386.1
    NP_001138387.1
    NP_001138388.1
    NP_001138389.1
    NP_001138390.1
    NP_001138391.1
    NP_075259.4
    NP_075418.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012449.1 RefSeqGene

      Range
      5001..125129
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000141.4NP_000132.3  fibroblast growth factor receptor 2 isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1, also referred to as isoform BEK and K-sam.
      Source sequence(s)
      BC037338, BC039243, CB305736, CN345547, CX873387, M87770
      Consensus CDS
      CCDS31298.1
      UniProtKB/Swiss-Prot
      P21802
      Related
      ENSP00000351276, OTTHUMP00000020621, ENST00000358487, OTTHUMT00000050715
      Conserved Domains (6) summary
      cd05101
      Location:465768
      Blast Score: 1684
      PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2
      cd04973
      Location:47124
      Blast Score: 365
      Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
      cd05857
      Location:164248
      Blast Score: 494
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      cd05858
      Location:271360
      Blast Score: 496
      Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
      pfam07679
      Location:263359
      Blast Score: 144
      I-set; Immunoglobulin I-set domain
      pfam07714
      Location:481757
      Blast Score: 1058
      Pkinase_Tyr; Protein tyrosine kinase
    2. NM_001144913.1NP_001138385.1  fibroblast growth factor receptor 2 isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate internal in-frame coding exon (as in variant 2), and an alternate 3' terminal exon, compared to transcript variant 1. This results in an isoform (3) with a different, 1 aa longer protein segment in the mid-region, and a novel shorter C-terminus, compared to isoform 1.
      Source sequence(s)
      AC009988, AK026508, M97193, U11814, X56191
      Consensus CDS
      CCDS44489.1
      UniProtKB/Swiss-Prot
      P21802
      Related
      ENSP00000358052, OTTHUMP00000020626, ENST00000369056, OTTHUMT00000050720
      Conserved Domains (6) summary
      cd05101
      Location:466768
      Blast Score: 1685
      PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2
      cd04973
      Location:47124
      Blast Score: 366
      Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
      cd05857
      Location:164248
      Blast Score: 494
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      pfam07679
      Location:263357
      Blast Score: 136
      I-set; Immunoglobulin I-set domain
      pfam07714
      Location:482758
      Blast Score: 1059
      Pkinase_Tyr; Protein tyrosine kinase
      cl11960
      Location:271358
      Blast Score: 360
      Ig; Immunoglobulin domain
    3. NM_001144914.1NP_001138386.1  fibroblast growth factor receptor 2 isoform 4 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) is missing two consecutive in-frame coding exons compared to transcript variant 1. This results in a shorter isoform (4) lacking an internal protein segment compared to isoform 1.
      Source sequence(s)
      AB084153, BC037338, CB305736, M97193, U11814
      Consensus CDS
      CCDS44486.1
      UniProtKB/Swiss-Prot
      P21802
      Related
      ENSP00000358057, ENST00000369061
      Conserved Domains (4) summary
      cd05101
      Location:353656
      Blast Score: 1675
      PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2
      cd04973
      Location:47124
      Blast Score: 365
      Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
      cd05857
      Location:164248
      Blast Score: 494
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      pfam07714
      Location:369645
      Blast Score: 1054
      Pkinase_Tyr; Protein tyrosine kinase
    4. NM_001144915.1NP_001138387.1  fibroblast growth factor receptor 2 isoform 5 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate 5' terminal non-coding exon, and is missing an internal in-frame coding exon, compared to transcript variant 1. This results in a shorter isoform (5) lacking an internal protein segment compared to isoform 1.
      Source sequence(s)
      AK294026, BC037338, CB305736, M87770
      Consensus CDS
      CCDS53584.1
      UniProtKB/Swiss-Prot
      P21802
      Related
      ENSP00000350166, ENST00000357555
      Conserved Domains (5) summary
      cd05101
      Location:376679
      Blast Score: 1685
      PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2
      cd05857
      Location:75159
      Blast Score: 494
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      cd05858
      Location:182271
      Blast Score: 496
      Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
      pfam07679
      Location:174270
      Blast Score: 144
      I-set; Immunoglobulin I-set domain
      pfam07714
      Location:392668
      Blast Score: 1056
      Pkinase_Tyr; Protein tyrosine kinase
    5. NM_001144916.1NP_001138388.1  fibroblast growth factor receptor 2 isoform 6 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) uses an alternate 5' terminal exon, and is missing two consecutive in-frame coding exons, compared to transcript variant 1. This results in a shorter isoform (6) lacking an internal protein segment compared to isoform 1.
      Source sequence(s)
      AK308621, BC037338, CB305736, M97193
      UniProtKB/Swiss-Prot
      P21802
      Conserved Domains (5) summary
      cd05101
      Location:350653
      Blast Score: 1678
      PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2
      cd05857
      Location:49133
      Blast Score: 494
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      cd05858
      Location:156245
      Blast Score: 497
      Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
      pfam07679
      Location:148244
      Blast Score: 144
      I-set; Immunoglobulin I-set domain
      pfam07714
      Location:366642
      Blast Score: 1055
      Pkinase_Tyr; Protein tyrosine kinase
    6. NM_001144917.1NP_001138389.1  fibroblast growth factor receptor 2 isoform 7 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) is missing two consecutive in-frame coding exons compared to transcript variant 1. This results in a shorter isoform (7) lacking an internal protein segment compared to isoform 1.
      Source sequence(s)
      BC037338, BC039243, CB305736, CN345547, M87771, U11814
      Consensus CDS
      CCDS44487.1
      UniProtKB/Swiss-Prot
      P21802
      Conserved Domains (5) summary
      cd05101
      Location:349652
      Blast Score: 1675
      PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2
      cd04973
      Location:47124
      Blast Score: 365
      Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
      cd04974
      Location:271363
      Blast Score: 279
      Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
      cd05857
      Location:164248
      Blast Score: 492
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      pfam07714
      Location:365641
      Blast Score: 1055
      Pkinase_Tyr; Protein tyrosine kinase
    7. NM_001144918.1NP_001138390.1  fibroblast growth factor receptor 2 isoform 8 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) is missing two consecutive in-frame coding exons, and uses an alternate in-frame donor splice site at another coding exon, compared to transcript variant 1. This results in a shorter isoform (8) lacking an internal protein segment and additional 2 aa, compared to isoform 1.
      Source sequence(s)
      BC037338, BC039243, CB305736, CN345547, U11814
      Consensus CDS
      CCDS44485.1
      UniProtKB/Swiss-Prot
      P21802
      Related
      ENSP00000348559, OTTHUMP00000020631, ENST00000356226, OTTHUMT00000050726
      Conserved Domains (5) summary
      cd05101
      Location:348651
      Blast Score: 1678
      PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2
      cd05857
      Location:49133
      Blast Score: 494
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      cd05858
      Location:156245
      Blast Score: 498
      Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
      pfam07679
      Location:148244
      Blast Score: 145
      I-set; Immunoglobulin I-set domain
      pfam07714
      Location:364640
      Blast Score: 1055
      Pkinase_Tyr; Protein tyrosine kinase
    8. NM_001144919.1NP_001138391.1  fibroblast growth factor receptor 2 isoform 9 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) is missing an in-frame coding exon, uses an alternate internal in-frame coding exon (as in variant 2) and an alternate 3' terminal exon, compared to transcript variant 1. This results in a shorter isoform (9), which differs in two internal segments, and has a novel C-terminus compared to isoform 1.
      Source sequence(s)
      AC009988, AK026508, BC039243, CN345547, U11814
      Consensus CDS
      CCDS44488.1
      UniProtKB/Swiss-Prot
      P21802
      Related
      ENSP00000353262, OTTHUMP00000020624, ENST00000360144, OTTHUMT00000050718
      Conserved Domains (5) summary
      cd05101
      Location:377679
      Blast Score: 1679
      PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2
      cd05857
      Location:75159
      Blast Score: 494
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      pfam07679
      Location:174268
      Blast Score: 136
      I-set; Immunoglobulin I-set domain
      pfam07714
      Location:393669
      Blast Score: 1057
      Pkinase_Tyr; Protein tyrosine kinase
      cl11960
      Location:182269
      Blast Score: 361
      Ig; Immunoglobulin domain
    9. NM_022970.3NP_075259.4  fibroblast growth factor receptor 2 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate internal in-frame coding exon compared to transcript variant 1, resulting in an isoform (2, also known as isoform K-sam-IIH1, IIIb, and BFR-1) with a different, 1 aa longer protein segment in the mid-region compared to isoform 1.
      Source sequence(s)
      BC037338, BC039243, CB305736, CN345547, M55614, M80634
      Consensus CDS
      CCDS7620.2
      UniProtKB/Swiss-Prot
      P21802
      Conserved Domains (6) summary
      cd05101
      Location:466769
      Blast Score: 1685
      PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2
      cd04973
      Location:47124
      Blast Score: 365
      Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
      cd05857
      Location:164248
      Blast Score: 493
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      pfam07679
      Location:263357
      Blast Score: 136
      I-set; Immunoglobulin I-set domain
      smart00409
      Location:263357
      Blast Score: 158
      IG; Immunoglobulin
      pfam07714
      Location:482758
      Blast Score: 1059
      Pkinase_Tyr; Protein tyrosine kinase
    10. NM_023029.2NP_075418.1  fibroblast growth factor receptor 2 isoform 11 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) lacks an in-frame coding exon in the 5' region, compared to variant 1. This results in a shorter isoform (11) lacking an internal protein segment compared to isoform 1.
      Source sequence(s)
      AC009988, AK308621, BC039243, CB305736, EF057068
      UniProtKB/TrEMBL
      D2CGD1
      UniProtKB/Swiss-Prot
      P21802
      Conserved Domains (5) summary
      cd05101
      Location:376679
      Blast Score: 1679
      PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2
      cd05857
      Location:75159
      Blast Score: 494
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      cd05858
      Location:182271
      Blast Score: 497
      Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
      pfam07679
      Location:174270
      Blast Score: 144
      I-set; Immunoglobulin I-set domain
      pfam07714
      Location:392668
      Blast Score: 1056
      Pkinase_Tyr; Protein tyrosine kinase

    RNA

    1. NR_073009.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (14) lacks two consecutive exons in the 5' region and has an additional exon in the center region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB030073, AC009988, BC039243, BC096749, CB305736, M87771, U11814, X52832

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000010.10 Reference GRCh37.p10 Primary Assembly

      Range
      123237844..123357972, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000142.1 Alternate HuRef

      Range
      116868799..116988666, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018921.1 Alternate CHM1_1.0

      Range
      123596398..123716497, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_022971.1: Suppressed sequence

      Description
      NM_022971.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    2. NM_022972.1: Suppressed sequence

      Description
      NM_022972.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    3. NM_022973.1: Suppressed sequence

      Description
      NM_022973.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    4. NM_022974.1: Suppressed sequence

      Description
      NM_022974.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    5. NM_022975.2: Suppressed sequence

      Description
      NM_022975.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    6. NM_022976.1: Suppressed sequence

      Description
      NM_022976.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    7. NM_023028.1: Suppressed sequence

      Description
      NM_023028.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    8. NM_023030.1: Suppressed sequence

      Description
      NM_023030.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

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