Colony-Stimulating Factor 1 Receptor

Alternative Names

  • CSF1R
  • MCSFR
  • Oncogene FMS
  • FMS
  • C-FMS
  • CD115 Antigen
  • CD115
  • V-FMS Mcdonough Feline Sarcoma Viral Oncogene Homolog
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OMIM Number

164770

NCBI Gene ID

1436

Uniprot ID

P07333

Length

60,071 bases

No. of Exons

24

No. of isoforms

2

Protein Name

Macrophage colony-stimulating factor 1 receptor

Molecular Mass

107984 Da

Amino Acid Count

972

Genomic Location

chr5:150,053,295-150,113,365

Gene Map Locus
5q32

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001288705.3:c.1905G>TSaudi ArabiaNC_000005.10:g.150060926C>ALikely PathogenicLeukoencephalopathy, Hereditary Diffuse, with Spheroids 1NG_012303.2:g.57447G>T; NM_001288705.3:c.1905G>T; NP_001275634.1:p.Lys635Asn
NM_001288705.3:c.2512G>ASaudi ArabiaNC_000005.10:g.150056068C>TUncertain SignificanceUncertain SignificanceLeukoencephalopathy, Hereditary Diffuse, with Spheroids 1NG_012303.2:g.62305G>A; NM_001288705.3:c.2512G>A; NP_001275634.1:p.Val838Ile6900165571954535
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