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

Gene ID: 2263, updated on 21-Jun-2020

Summary

Official Symbol
FGFR2provided by HGNC
Official Full Name
fibroblast growth factor receptor 2provided by HGNC
Primary source
HGNC:HGNC:3689
See related
Ensembl:ENSG00000066468 MIM:176943
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]
Expression
Broad expression in skin (RPKM 22.1), thyroid (RPKM 14.8) and 20 other tissues See more
Orthologs

Genomic context

See FGFR2 in Genome Data Viewer
Location:
10q26.13
Exon count:
24
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (121478330..121598458, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (123237844..123357972, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378523 Neighboring gene RN7SK pseudogene 167 Neighboring gene uncharacterized LOC107984183 Neighboring gene ribosomal protein S15a pseudogene 5

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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Acrocephalosyndactyly type I Compare labs
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis Compare labs
Beare-Stevenson cutis gyrata syndrome Compare labs
Bent bone dysplasia syndrome Compare labs
Crouzon syndrome Compare labs
Isolated coronal synostosis Compare labs
Jackson-Weiss syndrome Compare labs
Levy-Hollister syndrome
MedGen: C0265269 OMIM: 149730 GeneReviews: Not available
Compare labs
Neoplasm of stomach
MedGen: C0038356 OMIM: 613659 GeneReviews: Not available
Compare labs
Pfeiffer syndrome Compare labs
Saethre-Chotzen syndrome
MedGen: C0175699 OMIM: 101400 GeneReviews: Saethre-Chotzen Syndrome
Compare labs
Scaphocephaly, maxillary retrusion, and mental retardation
MedGen: C1865070 OMIM: 609579 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A combined analysis of genome-wide association studies in breast cancer.
NHGRI GWA Catalog
A genome-wide association study identifies a genetic variant in the SIAH2 locus associated with hormonal receptor-positive breast cancer in Japanese.
NHGRI GWA Catalog
A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer.
NHGRI GWA Catalog
A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age.
NHGRI GWA Catalog
A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2.
NHGRI GWA Catalog
A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1).
NHGRI GWA Catalog
Common genetic variants and modification of penetrance of BRCA2-associated breast cancer.
NHGRI GWA Catalog
Genetic correction of PSA values using sequence variants associated with PSA levels.
NHGRI GWA Catalog
Genetic variants associated with breast cancer risk for Ashkenazi Jewish women with strong family histories but no identifiable BRCA1/2 mutation.
NHGRI GWA Catalog
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
NHGRI GWA Catalog
Genome-wide association study identifies five new breast cancer susceptibility loci.
NHGRI GWA Catalog
Genome-wide association study identifies novel breast cancer susceptibility loci.
NHGRI GWA Catalog
Genome-wide association study of breast cancer in the Japanese population.
NHGRI GWA Catalog
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
NHGRI GWA Catalog
Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 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 binding IPI
Inferred from Physical Interaction
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 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
 
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 
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
 
angiogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
animal organ morphogenesis 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
 
cellular response to retinoic acid IEA
Inferred from Electronic Annotation
more info
 
cellular response to transforming growth factor beta stimulus 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
 
endochondral bone growth IEA
Inferred from Electronic Annotation
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
 
epithelial to mesenchymal transition IEA
Inferred from Electronic Annotation
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
 
inner ear morphogenesis ISS
Inferred from Sequence or Structural Similarity
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
 
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
 
mesodermal cell differentiation IEA
Inferred from Electronic Annotation
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 development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of keratinocyte proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
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
 
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 
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 signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of canonical Wnt 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 kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 protein kinase B signaling TAS
Traceable Author Statement
more info
 
positive regulation of smooth muscle cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II 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 morphogenesis of a branching structure 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
 
response to ethanol IEA
Inferred from Electronic Annotation
more info
 
response to lipopolysaccharide IEA
Inferred from Electronic Annotation
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
 
transmembrane receptor protein tyrosine kinase signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
wound healing IEA
Inferred from Electronic Annotation
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 
colocalizes_with collagen-containing extracellular matrix IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
excitatory synapse ISS
Inferred from Sequence or Structural Similarity
more info
 
integral component of membrane NAS
Non-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 
membrane NAS
Non-traceable Author Statement
more info
PubMed 
nucleus 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 

General protein information

Preferred Names
fibroblast growth factor receptor 2
Names
BEK fibroblast growth factor receptor
bacteria-expressed kinase
keratinocyte 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_001307583.1
NP_001307587.1
NP_075259.4
NP_075418.1
XP_006717771.1
XP_006717773.1
XP_016871409.1
XP_016871410.1
XP_016871413.1
XP_016871414.1
XP_024303655.1
XP_024303656.1
XP_024303657.1
XP_024303658.1
XP_024303659.1
XP_024303660.1

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_012449.2 RefSeqGene

    Range
    5001..125129
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_994

mRNA and Protein(s)

  1. NM_000141.5NP_000132.3  fibroblast growth factor receptor 2 isoform 1 precursor

    See identical proteins and their annotated locations for NP_000132.3

    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
    ENSP00000351276.5, ENST00000358487.9
    Conserved Domains (7) summary
    cd04973
    Location:47124
    Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd05857
    Location:164248
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    cd05858
    Location:271360
    Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
    smart00409
    Location:174248
    IG; Immunoglobulin
    smart00410
    Location:263359
    IG_like; Immunoglobulin like
    cd05101
    Location:456768
    PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2
    pfam07714
    Location:481757
    Pkinase_Tyr; Protein tyrosine kinase
  2. NM_001144913.1NP_001138385.1  fibroblast growth factor receptor 2 isoform 3 precursor

    See identical proteins and their annotated locations for NP_001138385.1

    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
    ENSP00000358052.1, ENST00000369056.5
    Conserved Domains (6) summary
    cd04973
    Location:47124
    Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd04974
    Location:271358
    Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd05857
    Location:164248
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    smart00410
    Location:263357
    IG_like; Immunoglobulin like
    cd05101
    Location:457768
    PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2
    pfam07714
    Location:482758
    Pkinase_Tyr; Protein tyrosine kinase
  3. NM_001144914.1NP_001138386.1  fibroblast growth factor receptor 2 isoform 4 precursor

    See identical proteins and their annotated locations for NP_001138386.1

    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
    ENSP00000358057.4, ENST00000369061.8
    Conserved Domains (5) summary
    cd04973
    Location:47124
    Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd05857
    Location:164248
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    smart00410
    Location:47124
    IG_like; Immunoglobulin like
    cd05101
    Location:344656
    PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2
    pfam07714
    Location:369645
    Pkinase_Tyr; Protein tyrosine kinase
  4. NM_001144915.1NP_001138387.1  fibroblast growth factor receptor 2 isoform 5 precursor

    See identical proteins and their annotated locations for NP_001138387.1

    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
    ENSP00000350166.5, ENST00000357555.9
    Conserved Domains (6) summary
    cd05857
    Location:75159
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    cd05858
    Location:182271
    Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
    smart00409
    Location:85159
    IG; Immunoglobulin
    smart00410
    Location:174270
    IG_like; Immunoglobulin like
    cd05101
    Location:367679
    PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2
    pfam07714
    Location:392668
    Pkinase_Tyr; Protein tyrosine kinase
  5. NM_001144916.1NP_001138388.1  fibroblast growth factor receptor 2 isoform 6 precursor

    See identical proteins and their annotated locations for NP_001138388.1

    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 (6) summary
    cd05857
    Location:49133
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    cd05858
    Location:156245
    Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
    smart00409
    Location:59133
    IG; Immunoglobulin
    smart00410
    Location:148244
    IG_like; Immunoglobulin like
    cd05101
    Location:341653
    PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2
    pfam07714
    Location:366642
    Pkinase_Tyr; Protein tyrosine kinase
  6. NM_001144917.2NP_001138389.1  fibroblast growth factor receptor 2 isoform 7 precursor

    See identical proteins and their annotated locations for NP_001138389.1

    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
    Related
    ENSP00000358056.4, ENST00000369060.8
    Conserved Domains (6) summary
    cd04973
    Location:47124
    Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd05857
    Location:164248
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    smart00410
    Location:47124
    IG_like; Immunoglobulin like
    cd05101
    Location:340652
    PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2
    pfam07714
    Location:365641
    Pkinase_Tyr; Protein tyrosine kinase
    cl11960
    Location:271363
    Ig; Immunoglobulin domain
  7. NM_001144918.2NP_001138390.1  fibroblast growth factor receptor 2 isoform 8 precursor

    See identical proteins and their annotated locations for NP_001138390.1

    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
    ENSP00000348559.4, ENST00000356226.8
    Conserved Domains (3) summary
    cd05857
    Location:49133
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    cd05858
    Location:156245
    Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
    cd05101
    Location:339651
    PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2
  8. NM_001144919.2NP_001138391.1  fibroblast growth factor receptor 2 isoform 9 precursor

    See identical proteins and their annotated locations for NP_001138391.1

    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
    UniProtKB/TrEMBL
    A0A141AXF1
    Related
    ENSP00000353262.3, ENST00000360144.7
    Conserved Domains (6) summary
    cd04974
    Location:182269
    Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd05857
    Location:75159
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    smart00409
    Location:85159
    IG; Immunoglobulin
    smart00410
    Location:174268
    IG_like; Immunoglobulin like
    cd05101
    Location:368679
    PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2
    pfam07714
    Location:393669
    Pkinase_Tyr; Protein tyrosine kinase
  9. NM_001320654.1NP_001307583.1  fibroblast growth factor receptor 2 isoform 15

    Status: REVIEWED

    Description
    Transcript Variant: This variant (15) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (15) with a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC009988, BC037338, CB305736, X52832
    Consensus CDS
    CCDS81514.1
    UniProtKB/Swiss-Prot
    P21802
    UniProtKB/TrEMBL
    S4R381
    Related
    ENSP00000474011.1, ENST00000478859.5
    Conserved Domains (2) summary
    cd05858
    Location:43132
    Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
    cd05101
    Location:228540
    PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2
  10. NM_001320658.2NP_001307587.1  fibroblast growth factor receptor 2 isoform 16 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (16) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The encoded isoform (16) is shorter than isoform 1.
    Source sequence(s)
    BC037338, BC039243, CB305736, CN345547, M97193, U11814
    Consensus CDS
    CCDS81515.1
    UniProtKB/Swiss-Prot
    P21802
    Related
    ENSP00000263451.5, ENST00000346997.6
    Conserved Domains (7) summary
    cd04973
    Location:47124
    Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd05857
    Location:164248
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    cd05858
    Location:271360
    Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
    smart00409
    Location:174248
    IG; Immunoglobulin
    smart00410
    Location:263359
    IG_like; Immunoglobulin like
    cd05101
    Location:454766
    PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2
    pfam07714
    Location:479755
    Pkinase_Tyr; Protein tyrosine kinase
  11. NM_022970.3NP_075259.4  fibroblast growth factor receptor 2 isoform 2 precursor

    See identical proteins and their annotated locations for NP_075259.4

    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
    Related
    ENSP00000410294.2, ENST00000457416.6
    Conserved Domains (6) summary
    cd04973
    Location:47124
    Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd04974
    Location:271358
    Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd05857
    Location:164248
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    smart00410
    Location:263357
    IG_like; Immunoglobulin like
    cd05101
    Location:457769
    PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2
    pfam07714
    Location:482758
    Pkinase_Tyr; Protein tyrosine kinase
  12. NM_023029.2NP_075418.1  fibroblast growth factor receptor 2 isoform 11 precursor

    See identical proteins and their annotated locations for NP_075418.1

    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
    Consensus CDS
    CCDS73210.1
    UniProtKB/Swiss-Prot
    P21802
    UniProtKB/TrEMBL
    D2CGD1
    Conserved Domains (6) summary
    cd05857
    Location:75159
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    cd05858
    Location:182271
    Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
    smart00409
    Location:85159
    IG; Immunoglobulin
    smart00410
    Location:174270
    IG_like; Immunoglobulin like
    cd05101
    Location:367679
    PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2
    pfam07714
    Location:392668
    Pkinase_Tyr; Protein tyrosine kinase

RNA

  1. NR_073009.2 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 Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    121478330..121598458 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017015925.2XP_016871414.1  fibroblast growth factor receptor 2 isoform X11

  2. XM_017015921.2XP_016871410.1  fibroblast growth factor receptor 2 isoform X4

    Conserved Domains (7) summary
    cd04973
    Location:66143
    Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd05857
    Location:183267
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    cd05858
    Location:290379
    Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
    smart00409
    Location:193267
    IG; Immunoglobulin
    smart00410
    Location:282378
    IG_like; Immunoglobulin like
    cd05101
    Location:473785
    PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2
    pfam07714
    Location:498774
    Pkinase_Tyr; Protein tyrosine kinase
  3. XM_017015920.2XP_016871409.1  fibroblast growth factor receptor 2 isoform X3

  4. XM_006717710.4XP_006717773.1  fibroblast growth factor receptor 2 isoform X2

    Conserved Domains (6) summary
    cd04973
    Location:66143
    Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd04974
    Location:290377
    Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd05857
    Location:183267
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    smart00410
    Location:282376
    IG_like; Immunoglobulin like
    cd05101
    Location:476788
    PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2
    pfam07714
    Location:501777
    Pkinase_Tyr; Protein tyrosine kinase
  5. XM_017015924.2XP_016871413.1  fibroblast growth factor receptor 2 isoform X10

  6. XM_024447892.1XP_024303660.1  fibroblast growth factor receptor 2 isoform X12

    Related
    ENSP00000404219.1, ENST00000429361.5
    Conserved Domains (1) summary
    cd05101
    Location:66378
    PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2
  7. XM_006717708.3XP_006717771.1  fibroblast growth factor receptor 2 isoform X1

    Conserved Domains (6) summary
    cd04973
    Location:66143
    Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd04974
    Location:290377
    Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd05857
    Location:183267
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    smart00410
    Location:282376
    IG_like; Immunoglobulin like
    cd05101
    Location:474786
    PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2
    pfam07714
    Location:499775
    Pkinase_Tyr; Protein tyrosine kinase
  8. XM_024447889.1XP_024303657.1  fibroblast growth factor receptor 2 isoform X7

    Related
    ENSP00000337665.6, ENST00000336553.10
    Conserved Domains (3) summary
    cd05857
    Location:94178
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    cd05858
    Location:201290
    Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
    cd05101
    Location:384696
    PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2
  9. XM_024447888.1XP_024303656.1  fibroblast growth factor receptor 2 isoform X6

    Conserved Domains (3) summary
    cd05857
    Location:94178
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    cd05101
    Location:385697
    PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2
    cl11960
    Location:201288
    Ig; Immunoglobulin domain
  10. XM_024447890.1XP_024303658.1  fibroblast growth factor receptor 2 isoform X8

    Conserved Domains (3) summary
    cd05857
    Location:94178
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    cd05101
    Location:387699
    PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2
    cl11960
    Location:201288
    Ig; Immunoglobulin domain
  11. XM_024447891.1XP_024303659.1  fibroblast growth factor receptor 2 isoform X9

    Related
    ENSP00000358055.1, ENST00000369059.5
    Conserved Domains (3) summary
    cd05857
    Location:68152
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    cd05101
    Location:361673
    PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2
    cl11960
    Location:175262
    Ig; Immunoglobulin domain
  12. XM_024447887.1XP_024303655.1  fibroblast growth factor receptor 2 isoform X5

    Related
    ENSP00000484154.1, ENST00000613048.4
    Conserved Domains (3) summary
    cd05857
    Location:94178
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    cd05858
    Location:201290
    Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
    cd05101
    Location:386698
    PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2

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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