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

GenAge microarray genes

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