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Gene : FGFR1 Homo sapiens

Name  ? fibroblast growth factor receptor 1 Cytological Location  8p11.23
Brief Description  fibroblast growth factor receptor 1
Description  The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) 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 binds both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and autosomal dominant Kallmann syndrome 2. Chromosomal aberrations involving this gene are associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
  • synonyms:
  • KAL2,
  • KAL2,
  • H5,
  • CEK,
  • NM_001174063,
  • N-SAM,
  • HRTFDS,
  • ECCL,
  • H4,
  • HBGFR,
  • CEK,
  • FGFR-1,
  • FLT2,
  • CD331,
  • FGFBR,
  • H3,
  • FGFR1,
  • FLT2,
  • FLG,
  • FLG,
  • FLT-2,
  • HH2,
  • N-SAM,
  • BFGFR,
  • H2,
  • HGNC:3688,
  • uc064mbw.1,
  • OTTHUMG00000147366,
  • BFGFR,
  • CD331,
  • Pfeiffer syndrome,
  • M34185,
  • OGD,
  • fms-related tyrosine kinase 2,
  • bFGF-R-1
  • identifiers:
  • 2260,
  • ENSG00000077782,
  • FGFR1

Genome feature

Region: gene ? Length: 57697  
Location: 8:38411138-38468834 reverse strand Cyto location: 8p11.23


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Disease

7 Diseases

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374 SN Ps

5 Cross References

20 Data Sets

9 Homologues

0 Located Features

97 Rna Seq Results