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FGFR3 fibroblast growth factor receptor 3 [ Homo sapiens (human) ]

Gene ID: 2261, updated on 5-Mar-2019

Summary

Official Symbol
FGFR3provided by HGNC
Official Full Name
fibroblast growth factor receptor 3provided by HGNC
Primary source
HGNC:HGNC:3690
See related
Ensembl:ENSG00000068078 MIM:134934
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
ACH; CEK2; JTK4; CD333; HSFGFR3EX
Summary
This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist 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 binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. [provided by RefSeq, Aug 2017]
Expression
Biased expression in skin (RPKM 120.7), esophagus (RPKM 18.0) and 8 other tissues See more
Orthologs

Genomic context

See FGFR3 in Genome Data Viewer
Location:
4p16.3
Exon count:
19
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (1793299..1808872)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (1795039..1810599)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene transmembrane protein 129 Neighboring gene transforming acidic coiled-coil containing protein 3 Neighboring gene uncharacterized LOC112268460 Neighboring gene leucine zipper and EF-hand containing transmembrane protein 1 Neighboring gene RNA, 7SL, cytoplasmic 671, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Achondroplasia
MedGen: C0001080 OMIM: 100800 GeneReviews: Achondroplasia
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Bladder cancer, somatic
MedGen: C0005684 OMIM: 109800 GeneReviews: Not available
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Camptodactyly, tall stature, and hearing loss syndrome
MedGen: C1864852 OMIM: 610474 GeneReviews: Not available
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Carcinoma of cervix
MedGen: C0302592 OMIM: 603956 GeneReviews: Not available
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Carcinoma of colon
MedGen: C0699790 OMIM: 114500 GeneReviews: Lynch Syndrome
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Crouzon syndrome with acanthosis nigricans Compare labs
Epidermal nevus
MedGen: C0334082 OMIM: 162900 GeneReviews: Not available
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Hypochondroplasia
MedGen: C0410529 OMIM: 146000 GeneReviews: Hypochondroplasia
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Isolated coronal synostosis Compare labs
Levy-Hollister syndrome
MedGen: C0265269 OMIM: 149730 GeneReviews: Not available
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Malignant tumor of testis
MedGen: C0153594 OMIM: 273300 GeneReviews: Not available
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Muenke syndrome Compare labs
Severe achondroplasia with developmental delay and acanthosis nigricans
MedGen: C2674173 OMIM: 616482 GeneReviews: Not available
Compare labs
Thanatophoric dysplasia type 1
MedGen: C1868678 OMIM: 187600 GeneReviews: Thanatophoric Dysplasia
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Thanatophoric dysplasia, type 2
MedGen: C1300257 OMIM: 187601 GeneReviews: Thanatophoric Dysplasia
Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2011-11-09)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2011-11-09)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci.
NHGRI GWA Catalog
A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer.
NHGRI GWA Catalog
Genome-wide association study identifies multiple loci associated with bladder cancer risk.
NHGRI GWA Catalog

Pathways from BioSystems

  • ARMS-mediated activation, organism-specific biosystem (from REACTOME)
    ARMS-mediated activation, organism-specific biosystemARMS (Ankyrin-Rich Membrane Spanning/Kidins 220) is a 220kD tetraspanning adaptor protein which becomes rapidly tyrosine phosphorylated by active Trk receptors. ARMS is another adaptor protein which ...
  • 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...
  • Axon guidance, organism-specific biosystem (from REACTOME)
    Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
  • Bladder Cancer, organism-specific biosystem (from WikiPathways)
    Bladder Cancer, organism-specific biosystemThe urothelium covers the luminal surface of almost the entire urinary tract, extending from the renal pelvis, through the ureter and bladder, to the proximal urethra. The majority of urothelial carc...
  • Bladder cancer, organism-specific biosystem (from KEGG)
    Bladder cancer, organism-specific biosystemThe urothelium covers the luminal surface of almost the entire urinary tract, extending from the renal pelvis, through the ureter and bladder, to the proximal urethra. The majority of urothelial carc...
  • Bladder cancer, conserved biosystem (from KEGG)
    Bladder cancer, conserved biosystemThe urothelium covers the luminal surface of almost the entire urinary tract, extending from the renal pelvis, through the ureter and bladder, to the proximal urethra. The majority of urothelial carc...
  • Central carbon metabolism in cancer, organism-specific biosystem (from KEGG)
    Central carbon metabolism in cancer, organism-specific biosystemMalignant transformation of cells requires specific adaptations of cellular metabolism to support growth and survival. In the early twentieth century, Otto Warburg established that there are fundamen...
  • Central carbon metabolism in cancer, conserved biosystem (from KEGG)
    Central carbon metabolism in cancer, conserved biosystemMalignant transformation of cells requires specific adaptations of cellular metabolism to support growth and survival. In the early twentieth century, Otto Warburg established that there are fundamen...
  • Constitutive Signaling by Aberrant PI3K in Cancer, organism-specific biosystem (from REACTOME)
    Constitutive Signaling by Aberrant PI3K in Cancer, organism-specific biosystemSignaling by PI3K/AKT is frequently constitutively activated in cancer via gain-of-function mutations in one of the two PI3K subunits - PI3KCA (encoding the catalytic subunit p110alpha) or PIK3R1 (en...
  • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
    Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
  • 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...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • 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 ...
  • Diseases of signal transduction, organism-specific biosystem (from REACTOME)
    Diseases of signal transduction, organism-specific biosystemSignaling processes are central to human physiology (e.g., Pires-da Silva & Sommer 2003), and their disruption by either germ-line and somatic mutation can lead to serious disease. Here, the molecula...
  • 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 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 signaling of activated FGFR3, organism-specific biosystem (from REACTOME)
    Downstream signaling of activated FGFR3, 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...
  • EGFR tyrosine kinase inhibitor resistance, organism-specific biosystem (from KEGG)
    EGFR tyrosine kinase inhibitor resistance, organism-specific biosystemEGFR is a tyrosine kinase that participates in the regulation of cellular homeostasis. EGFR also serves as a stimulus for cancer growth. EGFR gene mutations and protein overexpression, both of which ...
  • EGFR tyrosine kinase inhibitor resistance, conserved biosystem (from KEGG)
    EGFR tyrosine kinase inhibitor resistance, conserved biosystemEGFR is a tyrosine kinase that participates in the regulation of cellular homeostasis. EGFR also serves as a stimulus for cancer growth. EGFR gene mutations and protein overexpression, both of which ...
  • Endochondral Ossification, organism-specific biosystem (from WikiPathways)
    Endochondral Ossification, organism-specific biosystemEndochondral ossification is the process by which the embryonic cartilaginous model of most bones contributes to longitudinal growth and is gradually replaced by bone. During endochondral ossificatio...
  • 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...
  • FCERI mediated MAPK activation, organism-specific biosystem (from REACTOME)
    FCERI mediated MAPK activation, organism-specific biosystemFormation of the LAT signaling complex leads to activation of MAPK and production of cytokines. The sequence of events that leads from LAT to cytokine production has not been as clearly defined as th...
  • FGFR3 ligand binding and activation, organism-specific biosystem (from REACTOME)
    FGFR3 ligand binding and activation, organism-specific biosystemFGFR3 is a receptor tyrosine kinase of the FGF receptor family, known to have a negative regulatory effect on long bone growth. Somatically, some of the same activating mutations are associated with ...
  • FGFR3 mutant receptor activation, organism-specific biosystem (from REACTOME)
    FGFR3 mutant receptor activation, organism-specific biosystemThe FGFR3 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...
  • FGFR3b ligand binding and activation, organism-specific biosystem (from REACTOME)
    FGFR3b ligand binding and activation, organism-specific biosystemThis pathway depicts the binding of an experimentally-verified range of ligands to FGFR3b. While binding affinities may vary considerably within this set, the ligands listed have been established to ...
  • FGFR3c ligand binding and activation, organism-specific biosystem (from REACTOME)
    FGFR3c ligand binding and activation, organism-specific biosystemThis pathway depicts the binding of an experimentally-verified range of ligands to FGFR3c. While binding affinities may vary considerably within this set, the ligands listed have been established to ...
  • FRS-mediated FGFR3 signaling, organism-specific biosystem (from REACTOME)
    FRS-mediated FGFR3 signaling, organism-specific biosystemThe FRS family of scaffolding adaptor proteins has two members, FRS2 (also known as FRS2 alpha) and FRS3 (also known as FRS2beta or SNT-2). Activation of FGFR tyrosine kinase allows FRS proteins to ...
  • Fc epsilon receptor (FCERI) signaling, organism-specific biosystem (from REACTOME)
    Fc epsilon receptor (FCERI) signaling, organism-specific biosystemMast cells (MC) are distributed in tissues throughout the human body and have long been recognized as key cells of type I hypersensitivity reactions. They also play important roles in inflammatory an...
  • Frs2-mediated activation, organism-specific biosystem (from REACTOME)
    Frs2-mediated activation, organism-specific biosystemThe adaptor protein Frs2 (Fibroblast growth factor receptor substrate 2) can mediate the prolonged activation of the MAPK (ERK) cascade.
  • 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...
  • GRB2 events in EGFR signaling, organism-specific biosystem (from REACTOME)
    GRB2 events in EGFR signaling, organism-specific biosystemAutophosphorylated EGFR tyrosine residues are docking sites for many downstream effectors in EGFR signaling. The adaptor protein GRB2 binds to phosphotyrosine residues in the C-tail of EGFR through i...
  • Gastrin-CREB signalling pathway via PKC and MAPK, organism-specific biosystem (from REACTOME)
    Gastrin-CREB signalling pathway via PKC and MAPK, organism-specific biosystemGastrin is a hormone whose main function is to stimulate secretion of hydrochloric acid by the gastric mucosa, which results in gastrin formation inhibition. This hormone also acts as a mitogenic fac...
  • 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 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 ...
  • Interleukin receptor SHC signaling, organism-specific biosystem (from REACTOME)
    Interleukin receptor SHC signaling, organism-specific biosystemPhosphorylation of Shc at three tyrosine residues, 239, 240 (Gotoh et al. 1996) and 317 (Salcini et al. 1994) involves unidentified tyrosine kinases presumed to be part of the activated receptor comp...
  • Interleukin-2 signaling, organism-specific biosystem (from REACTOME)
    Interleukin-2 signaling, organism-specific biosystemInterleukin-2 (IL-2) is a cytokine that is produced by T cells in response to antigen stimulation. Originally, IL-2 was discovered because of its potent growth factor activity on activated T cells in...
  • Interleukin-3, 5 and GM-CSF signaling, organism-specific biosystem (from REACTOME)
    Interleukin-3, 5 and GM-CSF signaling, organism-specific biosystemThe Interleukin-3 (IL-3), IL-5 and Granulocyte-macrophage colony stimulating factor (GM-CSF) receptors form a family of heterodimeric receptors that have specific alpha chains but share a common beta...
  • MAPK family signaling cascades, organism-specific biosystem (from REACTOME)
    MAPK family signaling cascades, organism-specific biosystemThe mitogen activated protein kinases (MAPKs) are a family of conserved protein serine threonine kinases that respond to varied extracellular stimuli to activate intracellular processes including gen...
  • 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...
  • MAPK1/MAPK3 signaling, organism-specific biosystem (from REACTOME)
    MAPK1/MAPK3 signaling, organism-specific biosystemThe extracellular signal regulated kinases (ERKs) 1 and 2, also known as MAPK3 and MAPK1, are phosphorylated by the MAP2Ks 1 and 2 in response to a wide range of extracellular stimuli to promote diff...
  • MicroRNAs in cancer, organism-specific biosystem (from KEGG)
    MicroRNAs in cancer, organism-specific biosystemMicroRNA (miRNA) is a cluster of small non-encoding RNA molecules of 21 - 23 nucleotides in length, which controls gene expression post-transcriptionally either via the degradation of target mRNAs or...
  • MicroRNAs in cancer, conserved biosystem (from KEGG)
    MicroRNAs in cancer, conserved biosystemMicroRNA (miRNA) is a cluster of small non-encoding RNA molecules of 21 - 23 nucleotides in length, which controls gene expression post-transcriptionally either via the degradation of target mRNAs or...
  • NCAM signaling for neurite out-growth, organism-specific biosystem (from REACTOME)
    NCAM signaling for neurite out-growth, organism-specific biosystemThe neural cell adhesion molecule, NCAM, is a member of the immunoglobulin (Ig) superfamily and is involved in a variety of cellular processes of importance for the formation and maintenance of the n...
  • 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...
  • NOTCH1 regulation of human endothelial cell calcification, organism-specific biosystem (from WikiPathways)
    NOTCH1 regulation of human endothelial cell calcification, organism-specific biosystemModel of NOTCH1 regulation of human endothelial cell calcification.
  • Negative regulation of FGFR3 signaling, organism-specific biosystem (from REACTOME)
    Negative regulation of FGFR3 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...
  • Negative regulation of the PI3K/AKT network, organism-specific biosystem (from REACTOME)
    Negative regulation of the PI3K/AKT network, organism-specific biosystemThe PI3K/AKT network is negatively regulated by phosphatases that dephosphorylate PIP3, thus hampering AKT activation.
  • 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:FGFR3, organism-specific biosystem (from REACTOME)
    PI-3K cascade:FGFR3, 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-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 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...
  • 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...
  • PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling, organism-specific biosystem (from REACTOME)
    PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling, organism-specific biosystemPhosphatidylinositol-5-phosphate (PI5P) may modulate PI3K/AKT signaling in several ways. PI5P is used as a substrate for production of phosphatidylinositol-4,5-bisphosphate, PI(4,5)P2 (Rameh et al. 1...
  • 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; FGFR3, organism-specific biosystem (from REACTOME)
    Phospholipase C-mediated cascade; FGFR3, 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...
  • Prolonged ERK activation events, organism-specific biosystem (from REACTOME)
    Prolonged ERK activation events, organism-specific biosystemAfter NGF binding, activated Trk receptors provide multiple docking sites for adaptor proteins and enzymes. Two docking proteins, the Ankyrin-Rich Membrane Spanning protein (ARMS/Kidins220) and Fibro...
  • RAF/MAP kinase cascade, organism-specific biosystem (from REACTOME)
    RAF/MAP kinase cascade, organism-specific biosystemThe RAS-RAF-MEK-ERK pathway regulates processes such as proliferation, differentiation, survival, senescence and cell motility in response to growth factors, hormones and cytokines, among others. Bin...
  • RET signaling, organism-specific biosystem (from REACTOME)
    RET signaling, organism-specific biosystemThe RET proto-oncogene encodes a receptor tyrosine kinase expressed primarily in urogenital precursor cells, spermatogonocytes, dopaminergic neurons, motor neurons and neural crest progenitors and de...
  • Rap1 signaling pathway, organism-specific biosystem (from KEGG)
    Rap1 signaling pathway, organism-specific biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
  • Rap1 signaling pathway, conserved biosystem (from KEGG)
    Rap1 signaling pathway, conserved biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
  • Ras signaling pathway, organism-specific biosystem (from KEGG)
    Ras signaling pathway, organism-specific biosystemThe Ras proteins are GTPases that function as molecular switches for signaling pathways regulating cell proliferation, survival, growth, migration, differentiation or cytoskeletal dynamism. Ras prote...
  • 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
  • Role of LAT2/NTAL/LAB on calcium mobilization, organism-specific biosystem (from REACTOME)
    Role of LAT2/NTAL/LAB on calcium mobilization, organism-specific biosystemThe lipid raft resident adaptor molecules LAT1 and Non-T cell activation linker (NTAL), also known as linker for activation of B cells (LAB)/LAT2 are known participants in the regulation of mast cell...
  • SHC-mediated cascade:FGFR3, organism-specific biosystem (from REACTOME)
    SHC-mediated cascade:FGFR3, 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...
  • SHC1 events in EGFR signaling, organism-specific biosystem (from REACTOME)
    SHC1 events in EGFR signaling, organism-specific biosystemGRB2 can bind EGFR directly or through another SH2-containing protein, SHC1. This association leads to RAS activation.
  • SOS-mediated signalling, organism-specific biosystem (from REACTOME)
    SOS-mediated signalling, organism-specific biosystemSOS is recruited to the plasma membrane and mediates activation of Ras.
  • 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 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 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 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 FGFR3, organism-specific biosystem (from REACTOME)
    Signaling by FGFR3, 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 FGFR3 fusions in cancer, organism-specific biosystem (from REACTOME)
    Signaling by FGFR3 fusions in cancer, organism-specific biosystemIn recent years, recurrent fusions of FGFR3 have been identified in a number of cancers, including glioblastoma and cancers of the lung and bladder, among others (Singh et al, 2012; Parker et al, 201...
  • Signaling by FGFR3 in disease, organism-specific biosystem (from REACTOME)
    Signaling by FGFR3 in disease, organism-specific biosystemThe FGFR3 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 FGFR3 point mutants in cancer, organism-specific biosystem (from REACTOME)
    Signaling by FGFR3 point mutants in cancer, organism-specific biosystemThe FGFR3 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 GPCR, organism-specific biosystem (from REACTOME)
    Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
  • 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 Interleukins, organism-specific biosystem (from REACTOME)
    Signaling by Interleukins, organism-specific biosystemInterleukins are low molecular weight proteins that bind to cell surface receptors and act in an autocrine and/or paracrine fashion. They were first identified as factors produced by leukocytes but a...
  • Signaling by Leptin, organism-specific biosystem (from REACTOME)
    Signaling by Leptin, organism-specific biosystemLeptin (LEP, OB, OBS), a circulating adipokine, and its receptor LEPR (DB, OBR) control food intake and energy balance and are implicated in obesity-related diseases (recently reviewed in Amitani et ...
  • 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 VEGF, organism-specific biosystem (from REACTOME)
    Signaling by VEGF, organism-specific biosystemIn normal development vascular endothelial growth factors (VEGFs) are crucial regulators of vascular development during embryogenesis (vasculogenesis) and blood-vessel formation in the adult (angioge...
  • Signaling by activated point mutants of FGFR3, organism-specific biosystem (from REACTOME)
    Signaling by activated point mutants of FGFR3, organism-specific biosystemActivating point mutations in FGFR3 are found in the extracellular ligand-binding domain, the transmembrane region and the tyrosine kinase domain and are believed to result in ligand-independent acti...
  • 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...
  • Signaling pathways regulating pluripotency of stem cells, organism-specific biosystem (from KEGG)
    Signaling pathways regulating pluripotency of stem cells, organism-specific biosystemPluripotent stem cells (PSCs) are basic cells with an indefinite self-renewal capacity and the potential to generate all the cell types of the three germinal layers. The types of PSCs known to date i...
  • Signaling pathways regulating pluripotency of stem cells, conserved biosystem (from KEGG)
    Signaling pathways regulating pluripotency of stem cells, conserved biosystemPluripotent stem cells (PSCs) are basic cells with an indefinite self-renewal capacity and the potential to generate all the cell types of the three germinal layers. The types of PSCs known to date i...
  • 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...
  • Signalling to ERKs, organism-specific biosystem (from REACTOME)
    Signalling to ERKs, organism-specific biosystemNeurotrophins utilize multiple pathways to activate ERKs (ERK1 and ERK2), a subgroup of the large MAP kinase (MAPK) family, from the plasma membrane. The major signalling pathways to ERKs are via RAS...
  • Signalling to RAS, organism-specific biosystem (from REACTOME)
    Signalling to RAS, organism-specific biosystemSignalling through Shc adaptor proteins appears to be identical for both NGF and EGF. It leads to a fast, but transient, MAPK/ERK activation, which is insufficient to explain the prolonged activation...
  • Signalling to p38 via RIT and RIN, organism-specific biosystem (from REACTOME)
    Signalling to p38 via RIT and RIN, organism-specific biosystemRIT and RIN are two small guanine nucleotide binding proteins that share more than 50% sequence identity with RAS, including highly conserved core effector domains. Unlike RAS, the C termini of RIT a...
  • VEGFA-VEGFR2 Pathway, organism-specific biosystem (from REACTOME)
    VEGFA-VEGFR2 Pathway, organism-specific biosystemAngiogenesis is the formation of new blood vessels from preexisting vasculature. One of the most important proangiogenic factors is vascular endothelial growth factor (VEGF). VEGF exerts its biologic...
  • VEGFR2 mediated cell proliferation, organism-specific biosystem (from REACTOME)
    VEGFR2 mediated cell proliferation, organism-specific biosystemVEGFR2 stimulates ERK not via GRB2-SOS-RAS, but via pY1175-dependent phosphorylation of PLC gamma and subsequent activation of PKCs. PKC plays an important mediatory role in the proliferative Ras/Raf...
  • t(4;14) translocations of FGFR3, organism-specific biosystem (from REACTOME)
    t(4;14) translocations of FGFR3, organism-specific biosystemTranslocations which put the FGFR3 gene under the control of the strong IGH promoter have been identified in 15% of multiple myelomas (Avet-Loiseau, 1998; Chesi, 1997; Chesi, 2001). This translocati...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
fibroblast growth factor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fibroblast growth factor binding IDA
Inferred from Direct Assay
more info
PubMed 
fibroblast growth factor-activated receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fibroblast growth factor-activated receptor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein tyrosine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
transmembrane receptor protein tyrosine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
MAPK cascade TAS
Traceable Author Statement
more info
 
bone maturation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
bone mineralization ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
bone morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
bone morphogenesis TAS
Traceable Author Statement
more info
PubMed 
cell-cell signaling IEA
Inferred from Electronic Annotation
more info
 
chondrocyte differentiation TAS
Traceable Author Statement
more info
PubMed 
chondrocyte proliferation TAS
Traceable Author Statement
more info
PubMed 
endochondral bone growth TAS
Traceable Author Statement
more info
PubMed 
endochondral ossification TAS
Traceable Author Statement
more info
PubMed 
fibroblast growth factor receptor apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 TAS
Traceable Author Statement
more info
 
negative regulation of developmental growth ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
peptidyl-tyrosine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of ERK1 and ERK2 cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of MAPK cascade IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of MAPK cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell proliferation IBA
Inferred from Biological aspect of Ancestor
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 phosphatidylinositol 3-kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of phosphatidylinositol 3-kinase activity TAS
Traceable Author Statement
more info
PubMed 
positive regulation of phospholipase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein kinase B signaling TAS
Traceable Author Statement
more info
 
positive regulation of tyrosine phosphorylation of STAT protein IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein autophosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
skeletal system development TAS
Traceable Author Statement
more info
PubMed 
transmembrane receptor protein tyrosine kinase signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
cell surface IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with focal adhesion TAS
Traceable Author Statement
more info
PubMed 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transport vesicle IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
fibroblast growth factor receptor 3
Names
FGFR-3
fibroblast growth factor receptor 3 variant 4
hydroxyaryl-protein kinase
tyrosine kinase JTK4
NP_000133.1
NP_001156685.1
NP_001341738.1
NP_001341739.1
NP_075254.1
XP_006713931.1
XP_006713932.1
XP_006713933.1
XP_006713934.1
XP_006713936.1
XP_011511722.1
XP_011511724.1

NCBI Reference Sequences (RefSeq)

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_012632.1 RefSeqGene

    Range
    5001..20561
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1021

mRNA and Protein(s)

  1. NM_000142.4NP_000133.1  fibroblast growth factor receptor 3 isoform 1 precursor

    See identical proteins and their annotated locations for NP_000133.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) lacks an alternate coding exon and contains another alternate coding exon compared to variant 3. The resulting isoform (1) has the same N- and C-termini but is shorter compared to isoform 3.
    Source sequence(s)
    AC016773, AW204106, BC121175, DR003490, M64347
    Consensus CDS
    CCDS3353.1
    UniProtKB/Swiss-Prot
    P22607
    UniProtKB/TrEMBL
    Q0IJ44
    Related
    ENSP00000414914.2, ENST00000440486.7
    Conserved Domains (7) summary
    cd05857
    Location:161245
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    cd05858
    Location:268357
    Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
    smart00408
    Location:53110
    IGc2; Immunoglobulin C-2 Type
    smart00409
    Location:54125
    IG; Immunoglobulin
    smart00410
    Location:260356
    IG_like; Immunoglobulin like
    pfam07714
    Location:472748
    Pkinase_Tyr; Protein tyrosine kinase
    cl21453
    Location:459792
    PKc_like; Protein Kinases, catalytic domain
  2. NM_001163213.1NP_001156685.1  fibroblast growth factor receptor 3 isoform 3 precursor

    See identical proteins and their annotated locations for NP_001156685.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3), also known as isoform IIIb, encodes the longest isoform (3).
    Source sequence(s)
    AB209441, AC016773, AW204106, BC121175
    Consensus CDS
    CCDS54706.1
    UniProtKB/Swiss-Prot
    P22607
    UniProtKB/TrEMBL
    Q0IJ44
    Related
    ENSP00000339824.4, ENST00000340107.8
    Conserved Domains (7) summary
    cd04974
    Location:268356
    Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd05857
    Location:161245
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    smart00408
    Location:53110
    IGc2; Immunoglobulin C-2 Type
    smart00409
    Location:54125
    IG; Immunoglobulin
    smart00410
    Location:260355
    IG_like; Immunoglobulin like
    pfam07714
    Location:474750
    Pkinase_Tyr; Protein tyrosine kinase
    cl21453
    Location:461794
    PKc_like; Protein Kinases, catalytic domain
  3. NM_001354809.1NP_001341738.1  fibroblast growth factor receptor 3 isoform 4 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate coding exon, contains another alternate coding exon, and uses an alternate in-frame splice junction compared to variant 3. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 3.
    Source sequence(s)
    AC016773, KJ534834
    Conserved Domains (4) summary
    cd05857
    Location:161245
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    cd05858
    Location:268357
    Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
    smart00408
    Location:53110
    IGc2; Immunoglobulin C-2 Type
    cl21453
    Location:460793
    PKc_like; Protein Kinases, catalytic domain
  4. NM_001354810.1NP_001341739.1  fibroblast growth factor receptor 3 isoform 5 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks two alternate coding exons, contains another alternate coding exon, and uses an alternate in-frame splice junction compared to variant 3. The resulting isoform (5) has multiple differences compared to isoform 3.
    Source sequence(s)
    AB209441, AC016773
    Consensus CDS
    CCDS87200.1
    Related
    ENSP00000420533.2, ENST00000481110.6
    Conserved Domains (4) summary
    cd05857
    Location:161245
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    cd05858
    Location:268357
    Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
    smart00408
    Location:53110
    IGc2; Immunoglobulin C-2 Type
    cl21453
    Location:460654
    PKc_like; Protein Kinases, catalytic domain
  5. NM_022965.3NP_075254.1  fibroblast growth factor receptor 3 isoform 2 precursor

    See identical proteins and their annotated locations for NP_075254.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two alternate coding exons compared to variant 3. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 3.
    Source sequence(s)
    AC016773, AF245114, AW204106, BC121175, DR003490
    Consensus CDS
    CCDS3354.1
    UniProtKB/Swiss-Prot
    P22607
    UniProtKB/TrEMBL
    Q0IJ44
    Related
    ENSP00000412903.2, ENST00000412135.6
    Conserved Domains (6) summary
    cd04974
    Location:268357
    Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd05857
    Location:161245
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    smart00408
    Location:53110
    IGc2; Immunoglobulin C-2 Type
    smart00409
    Location:260289
    IG; Immunoglobulin
    pfam07714
    Location:360636
    Pkinase_Tyr; Protein tyrosine kinase
    cl21453
    Location:347680
    PKc_like; Protein Kinases, catalytic domain

RNA

  1. NR_148971.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) contains an alternate exon compared to variant 3. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC016773, HM244683
    Related
    ENST00000613647.4

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

    Range
    1793299..1808872
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006713868.1XP_006713931.1  fibroblast growth factor receptor 3 isoform X1

    Conserved Domains (7) summary
    cd04974
    Location:268356
    Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd05857
    Location:161245
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    smart00408
    Location:53110
    IGc2; Immunoglobulin C-2 Type
    smart00409
    Location:54125
    IG; Immunoglobulin
    smart00410
    Location:260355
    IG_like; Immunoglobulin like
    pfam07714
    Location:476752
    Pkinase_Tyr; Protein tyrosine kinase
    cl21453
    Location:463797
    PKc_like; Protein Kinases, catalytic domain
  2. XM_006713869.1XP_006713932.1  fibroblast growth factor receptor 3 isoform X2

    Conserved Domains (7) summary
    cd04974
    Location:268356
    Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd05857
    Location:161245
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    smart00408
    Location:53110
    IGc2; Immunoglobulin C-2 Type
    smart00409
    Location:54125
    IG; Immunoglobulin
    smart00410
    Location:260355
    IG_like; Immunoglobulin like
    pfam07714
    Location:476752
    Pkinase_Tyr; Protein tyrosine kinase
    cl21453
    Location:463796
    PKc_like; Protein Kinases, catalytic domain
  3. XM_006713870.1XP_006713933.1  fibroblast growth factor receptor 3 isoform X3

    Conserved Domains (7) summary
    cd04974
    Location:268356
    Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd05857
    Location:161245
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    smart00408
    Location:53110
    IGc2; Immunoglobulin C-2 Type
    smart00409
    Location:54125
    IG; Immunoglobulin
    smart00410
    Location:260355
    IG_like; Immunoglobulin like
    pfam07714
    Location:475751
    Pkinase_Tyr; Protein tyrosine kinase
    cl21453
    Location:462796
    PKc_like; Protein Kinases, catalytic domain
  4. XM_006713871.1XP_006713934.1  fibroblast growth factor receptor 3 isoform X4

    Conserved Domains (7) summary
    cd04974
    Location:268356
    Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd05857
    Location:161245
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    smart00408
    Location:53110
    IGc2; Immunoglobulin C-2 Type
    smart00409
    Location:54125
    IG; Immunoglobulin
    smart00410
    Location:260355
    IG_like; Immunoglobulin like
    pfam07714
    Location:474750
    Pkinase_Tyr; Protein tyrosine kinase
    cl21453
    Location:461795
    PKc_like; Protein Kinases, catalytic domain
  5. XM_011513420.1XP_011511722.1  fibroblast growth factor receptor 3 isoform X5

    Conserved Domains (7) summary
    cd05857
    Location:161245
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    cd05858
    Location:268357
    Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
    smart00408
    Location:53110
    IGc2; Immunoglobulin C-2 Type
    smart00409
    Location:54125
    IG; Immunoglobulin
    smart00410
    Location:260356
    IG_like; Immunoglobulin like
    pfam07714
    Location:474750
    Pkinase_Tyr; Protein tyrosine kinase
    cl21453
    Location:461795
    PKc_like; Protein Kinases, catalytic domain
  6. XM_011513422.1XP_011511724.1  fibroblast growth factor receptor 3 isoform X6

    Conserved Domains (7) summary
    cd05857
    Location:161245
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    cd05858
    Location:268357
    Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
    smart00408
    Location:53110
    IGc2; Immunoglobulin C-2 Type
    smart00409
    Location:54125
    IG; Immunoglobulin
    smart00410
    Location:260356
    IG_like; Immunoglobulin like
    pfam07714
    Location:473749
    Pkinase_Tyr; Protein tyrosine kinase
    cl21453
    Location:460794
    PKc_like; Protein Kinases, catalytic domain
  7. XM_006713873.1XP_006713936.1  fibroblast growth factor receptor 3 isoform X7

    Conserved Domains (7) summary
    cd05857
    Location:161245
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    cd05858
    Location:268357
    Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
    smart00408
    Location:53110
    IGc2; Immunoglobulin C-2 Type
    smart00409
    Location:54125
    IG; Immunoglobulin
    smart00410
    Location:260356
    IG_like; Immunoglobulin like
    pfam07714
    Location:472748
    Pkinase_Tyr; Protein tyrosine kinase
    cl21453
    Location:459793
    PKc_like; Protein Kinases, catalytic domain
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