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Gene : FGFR3 Homo sapiens

Name  ? fibroblast growth factor receptor 3 Cytological Location  4p16.3
Brief Description  fibroblast growth factor receptor 3
Description  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]
  • synonyms:
  • JTK4,
  • HSFGFR3EX,
  • M64347,
  • CEK2,
  • FGFR3,
  • CD333,
  • JTK4,
  • HGNC:3690,
  • CEK2,
  • CD333,
  • OTTHUMG00000121148,
  • NM_000142,
  • ACH,
  • ACH,
  • uc003gdr.3,
  • achondroplasia, thanatophoric dwarfism
  • identifiers:
  • 2261,
  • ENSG00000068078,
  • FGFR3

Genome feature

Region: gene ? Length: 15580  
Location: 4:1793293-1808872 Cyto location: 4p16.3


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Proteins

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SNPs

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Disease

14 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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Expression

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Other

3753 SN Ps

5 Cross References

20 Data Sets

8 Homologues

0 Located Features

97 Rna Seq Results