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

Danio rerio
fgfr2
Mus musculus
Fgfr2
Rattus norvegicus
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