LongevityMap Gene

Gene details

HGNC symbol
CSF1R 
Aliases
FMS; CSFR; FIM2; HDLS; C-FMS; CD115; CSF-1R; M-CSF-R 
Common name
colony stimulating factor 1 receptor 
Description
The protein encoded by this gene is the receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most if not all of the biological effects of this cytokine. Ligand binding activates the receptor kinase through a process of oligomerization and transphosphorylation. The encoded protein is a tyrosine kinase transmembrane receptor and member of the CSF1/PDGF receptor family of tyrosine-protein kinases. Mutations in this gene have been associated with a predisposition to myeloid malignancy. The first intron of this gene contains a transcriptionally inactive ribosomal protein L7 processed pseudogene oriented in the opposite direction. Alternative splicing results in multiple transcript variants. Expression of a splice variant from an LTR promoter has been found in Hodgkin lymphoma (HL), HL cell lines and anaplastic large cell lymphoma. [provided by RefSeq, Mar 2017]
Cytogenetic Location
5q32
UCSC Genome Browser
View 5q32 on the UCSC genome browser
OMIM
164770
Ensembl
ENSG00000182578
UniProt/Swiss-Prot
CSF1R_HUMAN
Entrez Gene
1436
UniGene
586219
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
csf1rb
Mus musculus
Csf1r
Rattus norvegicus
Csf1r

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
rs216148
Reference