CSF1R colony stimulating factor 1 receptor

Gene ID: 1436, updated on 16-Apr-2024
Gene type: protein coding
Also known as: FMS; CSFR; FIM2; GPSC; HDLS; C-FMS; CD115; HDLS1; CSF-1R; BANDDOS; M-CSF-R

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Brain abnormalities, neurodegeneration, and dysosteosclerosis MedGen: C5193117OMIM: 618476GeneReviews: Not available	See labs
Hereditary diffuse leukoencephalopathy with spheroids MedGen: C3711381GeneReviews: CSF1R-Related Disorder	See labs
Leukoencephalopathy, diffuse hereditary, with spheroids 1 MedGen: C5561929OMIM: 221820GeneReviews: CSF1R-Related Disorder	See labs

Genomic context

Location:: 5q32

Sequence:: Chromosome: 5; NC_000005.10 (150053295..150113365, complement)

Total number of exons:: 24

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for CSF1R variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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