Fibroblast growth factor receptor 3

FGFR3
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1RY7, 2LZL, 4K33
Identifiers
Aliases	FGFR3, ACH, CD333, CEK2, HSFGFR3EX, JTK4, fibroblast growth factor receptor 3
External IDs	OMIM: 134934; MGI: 95524; HomoloGene: 55437; GeneCards: FGFR3; OMA:FGFR3 - orthologs
Gene location (Human) Chr. Chromosome 4 (human)[1] Band 4p16.3 Start 1,793,293 bp[1] End 1,808,872 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5 B2|5 17.83 cM Start 33,879,018 bp[2] End 33,894,412 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in skin of thigh skin of hip skin of arm gingival epithelium tibia external globus pallidus dorsal motor nucleus of vagus nerve internal globus pallidus optic nerve skin of abdomen Top expressed in ventricular zone skin of external ear deep cerebellar nuclei dorsal tegmental nucleus lens lumbar subsegment of spinal cord medial vestibular nucleus ventral tegmental area hair follicle mammillary body More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity nucleotide binding protein kinase activity kinase activity protein binding transmembrane receptor protein tyrosine kinase activity fibroblast growth factor binding fibroblast growth factor-activated receptor activity ATP binding protein tyrosine kinase activity phosphatidylinositol-4,5-bisphosphate 3-kinase activity 1-phosphatidylinositol-3-kinase activity identical protein binding receptor tyrosine kinase transmembrane signaling receptor activity Cellular component cytoplasm integral component of membrane Golgi apparatus membrane focal adhesion plasma membrane integral component of plasma membrane transport vesicle extracellular region cell surface endoplasmic reticulum cytoplasmic vesicle nucleus receptor complex Biological process bone mineralization chondrocyte differentiation phosphorylation negative regulation of developmental growth cell-cell signaling bone morphogenesis endochondral ossification bone maturation fibroblast growth factor receptor apoptotic signaling pathway MAPK cascade positive regulation of phosphatidylinositol 3-kinase activity positive regulation of phospholipase activity fibroblast growth factor receptor signaling pathway protein phosphorylation chondrocyte proliferation positive regulation of cell population proliferation positive regulation of ERK1 and ERK2 cascade protein autophosphorylation peptidyl-tyrosine phosphorylation endochondral bone growth positive regulation of MAPK cascade apoptotic process phosphatidylinositol phosphate biosynthetic process phosphatidylinositol-3-phosphate biosynthetic process positive regulation of tyrosine phosphorylation of STAT protein skeletal system development positive regulation of protein kinase B signaling negative regulation of signal transduction cell differentiation negative regulation of apoptotic process transmembrane receptor protein tyrosine kinase signaling pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2261 14184 Ensembl ENSG00000068078 ENSMUSG00000054252 UniProt P22607 Q61851 RefSeq (mRNA) NM_000142 NM_001163213 NM_022965 NM_001354809 NM_001354810 NM_001163215 NM_001163216 NM_001163217 NM_001205270 NM_008010 NM_001359036 NM_001359037 RefSeq (protein) NP_000133 NP_001156685 NP_075254 NP_001341738 NP_001341739 n/a Location (UCSC) Chr 4: 1.79 – 1.81 Mb Chr 5: 33.88 – 33.89 Mb PubMed search [3] [4]
Wikidata
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Fibroblast growth factor receptor 3 (FGFR-3) is a protein that in humans is encoded by the FGFR3 gene.^[5] FGFR3 has also been designated as CD333 (cluster of differentiation 333). The gene, which is located on chromosome 4, location p16.3, is expressed in tissues such as the cartilage, brain, intestine, and kidneys.^[6]

The FGFR3 gene produces various forms of the FGFR-3 protein; the location varies depending on the isoform of FGFR-3. Since the different forms are found within different tissues the protein is responsible for multiple growth factor interactions.^[7] Gain of function mutations in FGFR3 inhibits chondrocyte proliferation and underlies achondroplasia and hypochondroplasia.