FGFR3, Official Symbol FGFR3provided by HGNC Official Full Name fibroblast growth factor receptor 3provided by HGNC Primary source HGNC:HGNC:3690 See related Ensembl:ENSG00000068078 MIM:134934; AllianceGenome:HGNC:3690 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 ACH; CEK2; JTK4; CD333; HSFGFR3EX 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. [provided by RefSeq, Aug 2017] Expression Biased expression in skin (RPKM 120.7), esophagus (RPKM 18.0) and 8 other tissues See more Orthologs mouse all