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Gene : FGFR2 Homo sapiens

Name  ? fibroblast growth factor receptor 2 Cytological Location  10q26.13
Brief Description  fibroblast growth factor receptor 2
Description  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. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]
  • synonyms:
  • HGNC:3689,
  • K-SAM,
  • BFR-1,
  • uc057wle.1,
  • ECT1,
  • NM_022976,
  • TK25,
  • JWS,
  • TK14,
  • Crouzon syndrome,
  • keratinocyte growth factor receptor,
  • JWS,
  • OTTHUMG00000019175,
  • CFD1,
  • BBDS,
  • CD332,
  • CFD1,
  • CEK3,
  • Jackson-Weiss syndrome,
  • NM_000141,
  • Pfeiffer syndrome,
  • K-SAM,
  • CEK3,
  • bacteria-expressed kinase,
  • TK14,
  • ECT1,
  • KGFR,
  • AK026508,
  • BEK,
  • TK25,
  • BEK,
  • craniofacial dysostosis 1,
  • FGFR2,
  • KGFR,
  • CD332
  • identifiers:
  • 2263,
  • ENSG00000066468,
  • FGFR2

Genome feature

Region: gene ? Length: 120129  
Location: 10:121478330-121598458 reverse strand Cyto location: 10q26.13


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Disease

11 Diseases

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409 SN Ps

5 Cross References

20 Data Sets

8 Homologues

0 Located Features

97 Rna Seq Results