LongevityMap Gene
Gene details
- HGNC symbol
- FGFR2
- Aliases
- BEK; JWS; BBDS; CEK3; CFD1; ECT1; KGFR; TK14; TK25; BFR-1; CD332; K-SAM
- Common name
- 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]
- Cytogenetic Location
- 10q26.13
- UCSC Genome Browser
- View 10q26.13 on the UCSC genome browser
- OMIM
- 176943
- Ensembl
- ENSG00000066468
- UniProt/Swiss-Prot
- A0A141AXF1_HUMAN
- Entrez Gene
- 2263
- UniGene
- 533683
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
- Caenorhabditis elegans
- egl-15
- Danio rerio
- fgfr2
- Drosophila melanogaster
- htl
- Drosophila melanogaster
- btl
- Mus musculus
- Fgfr2
- Rattus norvegicus
- Fgfr2
In other databases
- CellAge
- This gene is present as FGFR2
Studies (1)
Significant/Non-significant: 0/1
- Longevity Association
- Non-significant
- Population
- Dutch
- Study Design
- A set of alleles associated with age-related diseases was tested for association with human longevity in 723 nonagenarian siblings and 721 unrelated younger controls plus 979 singleton individuals >85 years of age and 1,167 younger controls
- Conclusions
- No differences were observed in disease risk allele frequency between long-lived individuals and controls. No individual allele was significantly associated with survival to old age after controlling for multiple testing.
- Indentifier
- rs2420946
- Reference