CSF3R
Summary: The protein encoded by this gene is the receptor for colony stimulating factor 3, a cytokine that controls the production, differentiation, and function of granulocytes. The encoded protein, which is a member of the family of cytokine receptors, may also function in some cell surface adhesion or recognition processes. Alternatively spliced transcript variants have been described. Mutations in this gene are a cause of Kostmann syndrome, also known as severe congenital neutropenia. [provided by RefSeq, Aug 2010].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| colony stimulating factor 3 receptor | MIM:138971 | Ensembl:ENSG00000119535 | HGNC:HGNC:2439 | PA26942 | 1p34.3 |
Gene Categories:
DRUGGABLE GENOMEGO terms in CSF3R
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IBA | GO:0004896 | cytokine receptor activity |
| MF | IEA | GO:0004896 | cytokine receptor activity |
| MF | IBA | GO:0004912 | interleukin-3 receptor activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IBA | GO:0019955 | cytokine binding |
| MF | IBA | GO:0019978 | interleukin-3 binding |
| MF | TAS | GO:0038023 | signaling receptor activity |
| MF | IEA | GO:0051916 | granulocyte colony-stimulating factor binding |
| CC | IEA | GO:0005576 | extracellular region |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005887 | integral component of plasma membrane |
| CC | IBA | GO:0009897 | external side of plasma membrane |
| CC | IBA | GO:0043235 | receptor complex |
| BP | TAS | GO:0006952 | defense response |
| BP | IEA | GO:0007155 | cell adhesion |
| BP | NAS | GO:0007165 | signal transduction |
| BP | TAS | GO:0019221 | cytokine-mediated signaling pathway |
| BP | IEA | GO:0030593 | neutrophil chemotaxis |
| BP | IEA | GO:0045637 | regulation of myeloid cell differentiation |
| BP | IEA | GO:0097186 | amelogenesis |
Gene expression in normal tissue: CSF3R
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CSF3R
| 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 |
| wikipathways | WP3932 | Focal Adhesion-PI3K-Akt-mTOR-signaling pathway |
| wikipathways | WP4172 | PI3K-Akt Signaling Pathway |
| kegg | hsa04060 | Cytokine-cytokine receptor interaction - Homo sapiens (human) |
| kegg | hsa04151 | PI3K-Akt signaling pathway - Homo sapiens (human) |
| kegg | hsa04630 | Jak-STAT signaling pathway - Homo sapiens (human) |
| kegg | hsa04640 | Hematopoietic cell lineage - Homo sapiens (human) |
| kegg | hsa05200 | Pathways in cancer - Homo sapiens (human) |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD870 | BRD63610 | 2 |
| iGMDRD574 | Ruxolitinib | 2 |
| iGMDRD231 | Importazole | 3 |
| iGMDRD150 | RITA | 2 |
| iGMDRD239 | Dasatinib | 12 |
| iGMDRD512 | nutlin 3 | 1 |
| iGMDRD353 | PD0325901 | 1 |
| iGMDRD886 | Compound 1541A | 3 |
| iGMDRD123 | Isoevodiamine | 3 |
| iGMDRD506 | Fedratinib | 1 |
| iGMDRD366 | PI-103 | 1 |
| iGMDRD237 | ABT-751 | 3 |
| iGMDRD152 | 179324-69-7 | 4 |
| iGMDRD188 | Piperlongumine | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CSF3R
CLASSFICATION
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