LongevityMap Gene

Gene details

HGNC symbol
FGFR1 
Aliases
CEK; FLG; HH2; OGD; ECCL; FLT2; KAL2; BFGFR; CD331; FGFBR; FLT-2; HBGFR; N-SAM; FGFR-1; HRTFDS; bFGF-R-1 
Common name
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]
Cytogenetic Location
8p11.23
UCSC Genome Browser
View 8p11.23 on the UCSC genome browser
OMIM
136350
Ensembl
ENSG00000077782
UniProt/Swiss-Prot
A0A0S2Z3Q6_HUMAN
Entrez Gene
2260
UniGene
264887
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
fgfr1a
Mus musculus
Fgfr1
Rattus norvegicus
Fgfr1

In other databases

GenAge human genes
  • This gene is present as FGFR1

Studies (1)

Significant/Non-significant: 1/0

Longevity Association
Significant
Population
American (Caucasian)
Study Design
Genome-wide association study in 801 centenarians and 914 healthy controls
Conclusions
281 SNPs were found to discriminate between cases and controls
Indentifier
rs7825208
Reference