CSF1R
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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:164770 Ensembl IDEnsembl:ENSG00000182578 HGNC IDHGNC:HGNC:2433 PHARMGKB IDPA26936 Map Location5q32 | |||||
GO terms in CSF1R
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IMP | GO:0001934 | positive regulation of protein phosphorylation |
| BP | TAS | GO:0006954 | inflammatory response |
| BP | TAS | GO:0007165 | signal transduction |
| BP | ISS | GO:0007169 | transmembrane receptor protein tyrosine kinase signaling pathway |
| BP | IBA | GO:0007275 | multicellular organism development |
| BP | TAS | GO:0007275 | multicellular organism development |
Gene expression in normal tissue: CSF1R
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CSF1R
Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1280215 | Cytokine Signaling in Immune system |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-449147 | Signaling by Interleukins |
| reactome | R-HSA-449836 | Other interleukin signaling |
| biocarta | etspathway | mets affect on macrophage differentiation |
| pid | avb3_integrin_pathway | Integrins in angiogenesis |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CSF1R
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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