Homo sapiens Gene: FGFR3
Summary
InnateDB Gene IDBG-6932.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FGFR3
Gene Name fibroblast growth factor receptor 3
Synonyms ACH; CD333; CEK2; HSFGFR3EX; JTK4
Species Homo sapiens
Ensembl Gene ENSG00000068078
Encoded Proteins
fibroblast growth factor receptor 3
fibroblast growth factor receptor 3
fibroblast growth factor receptor 3
fibroblast growth factor receptor 3
fibroblast growth factor receptor 3
fibroblast growth factor receptor 3
fibroblast growth factor receptor 3
fibroblast growth factor receptor 3
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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. Three alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Jul 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 4:1793307-1808872
Strand Forward strand
Band p16.3
Transcripts
ENST00000340107 ENSP00000339824
ENST00000260795 ENSP00000260795
ENST00000352904 ENSP00000231803
ENST00000412135 ENSP00000412903
ENST00000440486 ENSP00000414914
ENST00000481110 ENSP00000420533
ENST00000507588 ENSP00000427289
ENST00000474521
ENST00000469068
ENST00000613647 ENSP00000479472
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 46 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 46 [view]
Protein-Protein 46 [view]
Protein-DNA 0
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:0016772 transferase activity, transferring phosphorus-containing groups
GO:0017134 fibroblast growth factor binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0000165 MAPK cascade
GO:0001501 skeletal system development
GO:0001938 positive regulation of endothelial cell proliferation
GO:0001958 endochondral ossification
GO:0002009 morphogenesis of an epithelium
GO:0002062 chondrocyte differentiation
GO:0002089 lens morphogenesis in camera-type eye
GO:0003416 endochondral bone growth
GO:0006468 protein phosphorylation
GO:0007173 epidermal growth factor receptor signaling pathway
GO:0007259 JAK-STAT cascade
GO:0007267 cell-cell signaling
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:0010518 positive regulation of phospholipase activity
GO:0014003 oligodendrocyte development
GO:0018108 peptidyl-tyrosine phosphorylation
GO:0021762 substantia nigra development
GO:0022010 central nervous system myelination
GO:0030154 cell differentiation
GO:0030282 bone mineralization
GO:0030900 forebrain development
GO:0031398 positive regulation of protein ubiquitination
GO:0035019 somatic stem cell maintenance
GO:0035988 chondrocyte proliferation
GO:0038095 Fc-epsilon receptor signaling pathway
GO:0042511 positive regulation of tyrosine phosphorylation of Stat1 protein
GO:0042517 positive regulation of tyrosine phosphorylation of Stat3 protein
GO:0043410 positive regulation of MAPK cascade
GO:0043525 positive regulation of neuron apoptotic process
GO:0043552 positive regulation of phosphatidylinositol 3-kinase activity
GO:0045087 innate immune response
GO:0045597 positive regulation of cell differentiation
GO:0045839 negative regulation of mitosis
GO:0045879 negative regulation of smoothened signaling pathway
GO:0046777 protein autophosphorylation
GO:0048011 neurotrophin TRK receptor signaling pathway
GO:0048015 phosphatidylinositol-mediated signaling
GO:0048546 digestive tract morphogenesis
GO:0048640 negative regulation of developmental growth
GO:0048678 response to axon injury
GO:0048712 negative regulation of astrocyte differentiation
GO:0048839 inner ear development
GO:0050680 negative regulation of epithelial cell proliferation
GO:0050731 positive regulation of peptidyl-tyrosine phosphorylation
GO:0051216 cartilage development
GO:0060113 inner ear receptor cell differentiation
GO:0060349 bone morphogenesis
GO:0060385 axonogenesis involved in innervation
GO:0061144 alveolar secondary septum development
GO:0070307 lens fiber cell development
GO:0070374 positive regulation of ERK1 and ERK2 cascade
GO:0070977 bone maturation
GO:0072148 epithelial cell fate commitment
GO:0090080 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway
GO:0090102 cochlea development
GO:0090263 positive regulation of canonical Wnt signaling pathway
GO:1902178 fibroblast growth factor receptor apoptotic signaling pathway
Cellular Component
GO:0005576 extracellular region
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005764 lysosome
GO:0005783 endoplasmic reticulum
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005925 focal adhesion
GO:0009898 cytoplasmic side of plasma membrane
GO:0009986 cell surface
GO:0016021 integral component of membrane
GO:0016023 cytoplasmic membrane-bounded vesicle
GO:0048471 perinuclear region of cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Signaling by activated point mutants of FGFR3 pathway
t(4;14) translocations of FGFR3 pathway
Signaling by FGFR mutants pathway
Signaling by FGFR in disease pathway
Signaling by FGFR3 mutants pathway
Disease pathway
KEGG
Regulation of actin cytoskeleton pathway
MAPK signaling pathway pathway
Bladder 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.1420 Hs.732357
RefSeq NM_000142 NM_001163213 NM_022965 XM_006713868 XM_006713869 XM_006713870 XM_006713871 XM_006713872 XM_006713873
HUGO
OMIM
CCDS CCDS3353 CCDS3354 CCDS54706
HPRD 00624
IMGT
EMBL
GenPept
RNA Seq Atlas