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Gene : CSF1R Homo sapiens

Name  ? colony stimulating factor 1 receptor Cytological Location  5q32
Brief Description  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]
  • synonyms:
  • OTTHUMG00000130050,
  • CSF1R,
  • HDLS,
  • uc003lrm.3,
  • NM_005211,
  • U63963,
  • CD115,
  • HGNC:2433,
  • CSFR,
  • FMS,
  • CSF-1R,
  • McDonough feline sarcoma viral (v-fms) oncogene homolog,
  • C-FMS,
  • FIM2,
  • CD115,
  • FMS,
  • CSFR,
  • M-CSF-R,
  • C-FMS,
  • BANDDOS
  • identifiers:
  • 1436,
  • ENSG00000182578,
  • CSF1R

Genome feature

Region: gene ? Length: 60071  
Location: 5:150053295-150113365 reverse strand Cyto location: 5q32


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Disease

2 Diseases

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Expression

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173 SNPs

5 Cross References

19 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results