Homo sapiens Gene: FGFR2
Summary
InnateDB Gene IDBG-91347.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FGFR2
Gene Name fibroblast growth factor receptor 2
Synonyms BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1; JWS; K-SAM; KGFR; TK14; TK25
Species Homo sapiens
Ensembl Gene ENSG00000066468
Encoded Proteins
fibroblast growth factor receptor 2
fibroblast growth factor receptor 2
fibroblast growth factor receptor 2
fibroblast growth factor receptor 2
fibroblast growth factor receptor 2
fibroblast growth factor receptor 2
fibroblast growth factor receptor 2
fibroblast growth factor receptor 2
fibroblast growth factor receptor 2
fibroblast growth factor receptor 2
fibroblast growth factor receptor 2
fibroblast growth factor receptor 2
fibroblast growth factor receptor 2
fibroblast growth factor receptor 2
fibroblast growth factor receptor 2
fibroblast growth factor receptor 2
fibroblast growth factor receptor 2
fibroblast growth factor receptor 2
fibroblast growth factor receptor 2
fibroblast growth factor receptor 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 10:121478334-121598458
Strand Reverse strand
Band q26.13
Transcripts
ENST00000358487 ENSP00000351276
ENST00000357555 ENSP00000350166
ENST00000351936 ENSP00000309878
ENST00000356226 ENSP00000348559
ENST00000369061 ENSP00000358057
ENST00000369060 ENSP00000358056
ENST00000369059 ENSP00000358055
ENST00000336553 ENSP00000337665
ENST00000369058 ENSP00000358054
ENST00000346997 ENSP00000263451
ENST00000360144 ENSP00000353262
ENST00000369056 ENSP00000358052
ENST00000359354 ENSP00000352309
ENST00000457416 ENSP00000410294
ENST00000429361 ENSP00000404219
ENST00000478859 ENSP00000474011
ENST00000467584
ENST00000463870
ENST00000490349
ENST00000491475
ENST00000491111
ENST00000604236 ENSP00000474109
ENST00000613324 ENSP00000481464
ENST00000611527 ENSP00000484892
ENST00000613048 ENSP00000484154
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 47 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 47 [view]
Protein-Protein 44 [view]
Protein-DNA 3 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004672 protein kinase activity
GO:0004713 protein tyrosine kinase activity
GO:0005007 fibroblast growth factor-activated receptor activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008201 heparin binding
GO:0016772 transferase activity, transferring phosphorus-containing groups
GO:0017134 fibroblast growth factor binding
GO:0042803 protein homodimerization activity
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001525 angiogenesis
GO:0001657 ureteric bud development
GO:0001701 in utero embryonic development
GO:0001837 epithelial to mesenchymal transition
GO:0002053 positive regulation of mesenchymal cell proliferation
GO:0003148 outflow tract septum morphogenesis
GO:0003149 membranous septum morphogenesis
GO:0006468 protein phosphorylation
GO:0006915 apoptotic process
GO:0007173 epidermal growth factor receptor signaling pathway
GO:0007267 cell-cell signaling
GO:0007409 axonogenesis
GO:0007528 neuromuscular junction development
GO:0008284 positive regulation of cell proliferation
GO:0008285 negative regulation of cell proliferation
GO:0008286 insulin receptor signaling pathway
GO:0008543 fibroblast growth factor receptor signaling pathway
GO:0008589 regulation of smoothened signaling pathway
GO:0009791 post-embryonic development
GO:0009880 embryonic pattern specification
GO:0009887 organ morphogenesis
GO:0010453 regulation of cell fate commitment
GO:0010518 positive regulation of phospholipase activity
GO:0016331 morphogenesis of embryonic epithelium
GO:0018108 peptidyl-tyrosine phosphorylation
GO:0021769 orbitofrontal cortex development
GO:0021847 ventricular zone neuroblast division
GO:0021860 pyramidal neuron development
GO:0022612 gland morphogenesis
GO:0030177 positive regulation of Wnt signaling pathway
GO:0030282 bone mineralization
GO:0030324 lung development
GO:0030855 epithelial cell differentiation
GO:0030901 midbrain development
GO:0030916 otic vesicle formation
GO:0031069 hair follicle morphogenesis
GO:0032808 lacrimal gland development
GO:0033688 regulation of osteoblast proliferation
GO:0035264 multicellular organism growth
GO:0035265 organ growth
GO:0035602 fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow
GO:0035603 fibroblast growth factor receptor signaling pathway involved in hemopoiesis
GO:0035604 fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow
GO:0035607 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development
GO:0038095 Fc-epsilon receptor signaling pathway
GO:0040014 regulation of multicellular organism growth
GO:0040036 regulation of fibroblast growth factor receptor signaling pathway
GO:0042127 regulation of cell proliferation
GO:0042472 inner ear morphogenesis
GO:0042476 odontogenesis
GO:0043410 positive regulation of MAPK cascade
GO:0045087 innate immune response
GO:0045165 cell fate commitment
GO:0045667 regulation of osteoblast differentiation
GO:0045787 positive regulation of cell cycle
GO:0045839 negative regulation of mitosis
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0046777 protein autophosphorylation
GO:0048011 neurotrophin TRK receptor signaling pathway
GO:0048015 phosphatidylinositol-mediated signaling
GO:0048286 lung alveolus development
GO:0048333 mesodermal cell differentiation
GO:0048489 synaptic vesicle transport
GO:0048557 embryonic digestive tract morphogenesis
GO:0048562 embryonic organ morphogenesis
GO:0048565 digestive tract development
GO:0048568 embryonic organ development
GO:0048608 reproductive structure development
GO:0048661 positive regulation of smooth muscle cell proliferation
GO:0048701 embryonic cranial skeleton morphogenesis
GO:0048705 skeletal system morphogenesis
GO:0048730 epidermis morphogenesis
GO:0048755 branching morphogenesis of a nerve
GO:0048762 mesenchymal cell differentiation
GO:0050673 epithelial cell proliferation
GO:0050678 regulation of epithelial cell proliferation
GO:0050679 positive regulation of epithelial cell proliferation
GO:0050680 negative regulation of epithelial cell proliferation
GO:0051150 regulation of smooth muscle cell differentiation
GO:0051781 positive regulation of cell division
GO:0055010 ventricular cardiac muscle tissue morphogenesis
GO:0060045 positive regulation of cardiac muscle cell proliferation
GO:0060174 limb bud formation
GO:0060348 bone development
GO:0060349 bone morphogenesis
GO:0060365 coronal suture morphogenesis
GO:0060441 epithelial tube branching involved in lung morphogenesis
GO:0060442 branching involved in prostate gland morphogenesis
GO:0060445 branching involved in salivary gland morphogenesis
GO:0060449 bud elongation involved in lung branching
GO:0060463 lung lobe morphogenesis
GO:0060484 lung-associated mesenchyme development
GO:0060501 positive regulation of epithelial cell proliferation involved in lung morphogenesis
GO:0060512 prostate gland morphogenesis
GO:0060523 prostate epithelial cord elongation
GO:0060527 prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis
GO:0060529 squamous basal epithelial stem cell differentiation involved in prostate gland acinus development
GO:0060595 fibroblast growth factor receptor signaling pathway involved in mammary gland specification
GO:0060601 lateral sprouting from an epithelium
GO:0060615 mammary gland bud formation
GO:0060664 epithelial cell proliferation involved in salivary gland morphogenesis
GO:0060667 branch elongation involved in salivary gland morphogenesis
GO:0060670 branching involved in labyrinthine layer morphogenesis
GO:0060687 regulation of branching involved in prostate gland morphogenesis
GO:0060688 regulation of morphogenesis of a branching structure
GO:0060915 mesenchymal cell differentiation involved in lung development
GO:0060916 mesenchymal cell proliferation involved in lung development
GO:0061031 endodermal digestive tract morphogenesis
GO:0070307 lens fiber cell development
GO:0070372 regulation of ERK1 and ERK2 cascade
GO:0070374 positive regulation of ERK1 and ERK2 cascade
GO:0090263 positive regulation of canonical Wnt signaling pathway
Cellular Component
GO:0005576 extracellular region
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005938 cell cortex
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016023 cytoplasmic membrane-bounded vesicle
GO:0031012 extracellular matrix
GO:0043231 intracellular membrane-bounded organelle
GO:0060076 excitatory synapse
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Activated point mutants of FGFR2 pathway
Signaling by FGFR2 amplification mutants pathway
Signaling by FGFR mutants pathway
Signaling by FGFR in disease pathway
Signaling by FGFR2 mutants pathway
Disease pathway
KEGG
Regulation of actin cytoskeleton pathway
MAPK signaling pathway pathway
Prostate cancer pathway
Endocytosis pathway
Pathways in cancer pathway
INOH
IL-7 signaling pathway
JAK STAT pathway and regulation pathway
EPO signaling pathway pathway
FGF signaling pathway pathway
VEGF signaling pathway pathway
PID NCI
FGF signaling pathway
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.533683 Hs.607420 Hs.622244 Hs.736928
RefSeq NM_000141 NM_001144913 NM_001144914 NM_001144915 NM_001144916 NM_001144917 NM_001144918 NM_001144919 NM_022970 NM_023029 XM_006717709 XM_006717710 XM_006717711 XM_006717712 XM_006717713
HUGO
OMIM
CCDS CCDS31298 CCDS44485 CCDS44486 CCDS44487 CCDS44488 CCDS44489 CCDS53584 CCDS73210 CCDS7620
HPRD 01492
IMGT
EMBL
GenPept
RNA Seq Atlas