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
In other databases
- GenAge microarray genes
- This gene is present as 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