CNTFR
Summary: This gene encodes a member of the type 1 cytokine receptor family. The encoded protein is the ligand-specific component of a tripartite receptor for ciliary neurotrophic factor, which plays a critical role in neuronal cell survival, differentiation and gene expression. Binding of ciliary neurotrophic factor to the encoded protein recruits the transmembrane components of the receptor, gp130 and leukemia inhibitory factor receptor, facilitating signal transduction. Single nucleotide polymorphisms in this gene may be associated with variations in muscle strength, as well as early onset of eating disorders. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2011].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| ciliary neurotrophic factor receptor | MIM:118946 | Ensembl:ENSG00000122756 | HGNC:HGNC:2170 | PA26684 | 9p13.3 |
Gene Categories:
DRUGGABLE GENOMEGO terms in CNTFR
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IBA | GO:0004896 | cytokine receptor activity |
| MF | IBA | GO:0004897 | ciliary neurotrophic factor receptor activity |
| MF | IDA | GO:0004897 | ciliary neurotrophic factor receptor activity |
| MF | IPI | GO:0005102 | signaling receptor binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IBA | GO:0019955 | cytokine binding |
| MF | IPI | GO:0019955 | cytokine binding |
| MF | IBA | GO:0045523 | interleukin-27 receptor binding |
| BP | IEA | GO:0001967 | suckling behavior |
| BP | IEA | GO:0003360 | brainstem development |
| BP | NAS | GO:0007165 | signal transduction |
| BP | TAS | GO:0007399 | nervous system development |
| BP | IEA | GO:0007548 | sex differentiation |
| BP | IEA | GO:0008284 | positive regulation of cell proliferation |
| BP | TAS | GO:0019221 | cytokine-mediated signaling pathway |
| BP | IEA | GO:0043524 | negative regulation of neuron apoptotic process |
| BP | IEA | GO:0060538 | skeletal muscle organ development |
| BP | IDA | GO:0070120 | ciliary neurotrophic factor-mediated signaling pathway |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | IBA | GO:0009897 | external side of plasma membrane |
| CC | IDA | GO:0016324 | apical plasma membrane |
| CC | TAS | GO:0019898 | extrinsic component of membrane |
| CC | IEA | GO:0031225 | anchored component of membrane |
| CC | IBA | GO:0043235 | receptor complex |
| CC | IBA | GO:0070110 | ciliary neurotrophic factor receptor complex |
| CC | IDA | GO:0070110 | ciliary neurotrophic factor receptor complex |
| CC | IBA | GO:0097059 | CNTFR-CLCF1 complex |
| CC | IDA | GO:0097059 | CNTFR-CLCF1 complex |
Gene expression in normal tissue: CNTFR
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CNTFR
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa04060 | Cytokine-cytokine receptor interaction - Homo sapiens (human) |
| kegg | hsa04630 | Jak-STAT signaling pathway - Homo sapiens (human) |
| wikipathways | WP236 | Adipogenesis |
| 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-6783589 | Interleukin-6 family signaling |
| reactome | R-HSA-6788467 | IL-6-type cytokine receptor ligand interactions |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CNTFR
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