CNTFR (Ciliary Neurotrophic Factor Receptor)
A key receptor in neuropoietic cytokine signaling, involved in nervous system development and maintenance.
Gene Information Card
| Symbol | CNTFR |
|---|---|
| Full Name | Ciliary Neurotrophic Factor Receptor |
| Gene Type | protein-coding |
| Chromosomal Location | 9p13.3 |
| NCBI Gene ID | 1271 ncbi.nlm.nih.gov/gene/1271 |
| Ensembl ID | ENSG00000122756 |
| UniProt ID | P26992 |
| OMIM ID | 118946 |
| HGNC ID | 2170 |
| Aliases | CNTFR-alpha, CNTFRa |
Description
The CNTFR gene encodes the alpha subunit of the ciliary neurotrophic factor (CNTF) receptor. This receptor is a member of the type I cytokine receptor family and is essential for CNTF signaling, which promotes survival, differentiation, and maintenance of neurons, particularly motor neurons and sensory neurons. CNTFR is anchored to the cell membrane via a glycosylphosphatidylinositol (GPI) linkage and forms a tripartite receptor complex with gp130 and LIFRβ.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Amyotrophic Lateral Sclerosis (ALS) | Altered CNTF/CNTFR signaling may impair motor neuron survival; rare variants in CNTFR have been reported in ALS patients. | ClinVar, PubMed |
| Motor Neuron Disease | Loss-of-function mutations in CNTFR disrupt neurotrophic support, leading to motor neuron degeneration. | OMIM, PubMed |
| Retinal Degeneration | CNTFR mediates CNTF effects on photoreceptor survival; dysregulation contributes to retinal pathologies. | UniProt, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Spinal Cord | 15.8 | Medium |
| Skeletal Muscle | 2.1 | Low |
| Heart | 1.5 | Low |
| Testis | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.5 | Neuronal model |
| U-87 MG (glioblastoma) | 6.2 | Glial origin |
| HeLa (cervical carcinoma) | 0.3 | Minimal expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.745C>T (p.Arg249*) | Nonsense | <0.01% | Loss of function; truncated protein |
| c.112G>A (p.Gly38Arg) | Missense | <0.01% | Unknown; predicted damaging |
| c.1240_1241del (p.Leu414fs) | Frameshift | <0.01% | Loss of function; premature stop |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg249*, p.Leu414fs) lead to truncated or unstable CNTFR protein, impairing CNTF binding and downstream signaling.
Gain of Function (GOF)
No gain-of-function mutations have been reported in CNTFR.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for CNTFR.
View complete mutation data：
Gene Ontology (GO)
| • ciliary neurotrophic factor receptor activity (GO:0004925) | • cytokine receptor activity (GO:0004896) |
| • signal transducer activity (GO:0004871) | • plasma membrane (GO:0005886) |
| • neuron projection (GO:0043005) | • neurotrophin signaling pathway (GO:0038179) |
Pathways
• CNTF signaling pathway (Reactome: R-HSA-1266738)
• JAK-STAT signaling pathway (KEGG: hsa04630)
• MAPK signaling pathway (KEGG: hsa04010)
• PI3K-Akt signaling pathway (KEGG: hsa04151)
Protein Summary
CNTFR is a 372-amino-acid glycoprotein with a single transmembrane domain (GPI-anchored). It consists of an extracellular cytokine-binding domain, a fibronectin type III domain, and a short cytoplasmic tail. The receptor binds CNTF with high affinity and recruits gp130 and LIFRβ to form a functional signaling complex, activating JAK/STAT, MAPK, and PI3K/Akt pathways. CNTFR is critical for the development and maintenance of the nervous system, particularly motor and sensory neurons.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CNTFR Knockout HEK293 Cell Line | EDJ-KQ453 | Human | 1271 | Details Get a Quote |
| CNTFR Knockout HeLa Cell Line | EDJ-KQ52946 | Human | 1271 | Details Get a Quote |
| CNTFR Knockout A-549 Cell Line | EDJ-KQ61413 | Human | 1271 | Details Get a Quote |
| CNTFR Knockout HCT 116 Cell Line | EDJ-KQ69908 | Human | 1271 | Details Get a Quote |
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