Fibroblast growth factor receptor 2

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Fibroblast growth factor receptor 2 (bacteria-expressed kinase, keratinocyte growth factor receptor, craniofacial dysostosis 1, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome)
PDB rendering based on 1djs.
Available structures: 1djs, 1e0o, 1ev2, 1gjo, 1ii4, 1iil, 1nun, 1oec, 1wvz, 2fdb
Identifiers
Symbol(s)	FGFR2; BEK; BFR-1; CD332; CEK3; CFD1; ECT1; JWS; K-SAM; KGFR; TK14; TK25
External IDs	OMIM: 176943 MGI: 95523 HomoloGene: 22566
Gene ontology Molecular Function: • nucleotide binding • protein-tyrosine kinase activity • receptor activity • fibroblast growth factor receptor activity • protein binding • ATP binding • heparin binding • transferase activity Cellular Component: • cell surface • membrane • integral to membrane Biological Process: • protein amino acid phosphorylation • cell growth
RNA expression pattern
More reference expression data
Orthologs
	Human	Mouse
Entrez	2263	14183
Ensembl	ENSG00000066468	ENSMUSG00000030849
Uniprot	P21802	Q2TAY2
Refseq	NM_000141 (mRNA) NP_000132 (protein)	XM_987418 (mRNA) XP_992512 (protein)
Location	Chr 10: 122.47 - 123.35 Mb	Chr 7: 129.95 - 130.06 Mb
Pubmed search	[1]	[2]

Fibroblast growth factor receptor 2 (FGFR2) is a receptor for fibroblast growth factor encoded on a gene residing on chromosome 10. FGFR2 has also been designated as CD332 (cluster of differentiation 332).

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. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized.^[1]

[edit] Clinical significance

Mutations (changes) are associated with several medical conditions:

• Apert syndrome, the best-known type of acrocephalosyndactyly. This condition is characterized by abnormalities of the skull and face and the hands and feet.

• Antley-Bixler syndrome (characterized by trapezoidal, craniofacial and skeletal synostosis, plus camptodactyly). Inherited as a recessive trait.
• Pfeiffer syndrome (another type of acrocephalosyndactyly). Inherited as a dominant trait.
• Crouzon syndrome (purely a craniofacial disorder with no hand or foot problems). Inherited as a dominant trait.
• Jackson-Weiss syndrome
• Breast cancer^[2]

[edit] See also

• Cluster of differentiation

[edit] References

[edit] Further reading

[edit] External links

• MeSH Fibroblast+Growth+Factor+Receptor+2

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