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
Gene location (Human)
Chr.	Chromosome 4 (human)
End	1,808,872 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	33,894,412 bp
RNA expression pattern
	Top expressed in
	tibia; ; external globus pallidus; ; internal globus pallidus; ; optic nerve; ; skin of abdomen; ; human penis; ; inferior olivary nucleus; ; pancreatic ductal cell; ; nipple; ; ventral tegmental area;
	Top expressed in
	dorsal tegmental nucleus; ; lens; ; medial vestibular nucleus; ; ventral tegmental area; ; hair follicle; ; mammillary body; ; superior colliculus; ; dorsomedial hypothalamic nucleus; ; left lung lobe; ; globus pallidus;
	More reference expression data
	; ;
	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
	2261
	14184
	ENSG00000068078
	ENSMUSG00000054252
	P22607
	Q61851
	NM_000142; NM_001163213; NM_022965; NM_001354809; NM_001354810
NM_001163215; NM_001163216; NM_001163217; NM_001205270; NM_008010;
	NM_001359036; NM_001359037
	NP_000133; NP_001156685; NP_075254; NP_001341738; NP_001341739
	n/a
	Wikidata
View/Edit Human	View/Edit Mouse

Fibroblast growth factor receptor 3 is a protein that in humans is encoded by the FGFR3 gene. 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.

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

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