CNTF (Ciliary Neurotrophic Factor)
A neurotrophic cytokine involved in neuronal survival, differentiation, and regeneration.
Gene Information Card
| Symbol | CNTF |
|---|---|
| Full Name | Ciliary Neurotrophic Factor |
| Gene Type | protein-coding |
| Chromosomal Location | 11q12.1 |
| NCBI Gene ID | 1270 ncbi.nlm.nih.gov/gene/1270 |
| Ensembl ID | ENSG00000170476 |
| UniProt ID | P26441 |
| OMIM ID | 118945 |
| HGNC ID | 2170 |
| Aliases | HCNTF |
Description
CNTF encodes a neurotrophic cytokine that promotes the survival and differentiation of various neuronal cell types, including motor neurons, sensory neurons, and ciliary ganglion neurons. It is primarily expressed in glial cells and exerts its effects through a receptor complex comprising CNTFR, LIFR, and gp130. CNTF is involved in neuroprotection, axonal growth, and regulation of energy homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Amyotrophic Lateral Sclerosis (ALS) | CNTF deficiency or impaired signaling may contribute to motor neuron degeneration; CNTF administration shows neuroprotective effects in animal models. | NCBI Gene, OMIM |
| Obesity | CNTF signaling modulates energy balance and body weight; CNTF variants are associated with altered metabolic phenotypes. | OMIM, NCBI Gene |
| Multiple Sclerosis | CNTF promotes oligodendrocyte survival and remyelination; reduced CNTF levels are observed in MS lesions. | NCBI Gene, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 0.2 | Low |
| Spinal Cord | 0.3 | Low |
| Peripheral Nerve | 0.1 | Low |
| Skeletal Muscle | 0.0 | Not detected |
| Liver | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| U-87 MG (glioblastoma) | 0.1 | Low expression |
| SH-SY5Y (neuroblastoma) | 0.0 | Not detected |
| HEK 293 (embryonic kidney) | 0.0 | Not detected |
| HepG2 (hepatocellular carcinoma) | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.310C>T (p.Arg104Ter) | Nonsense | Rare | Premature stop codon; loss of function |
| c.1A>G (p.Met1Val) | Missense | Rare | Start codon loss; likely loss of function |
| c.335G>A (p.Arg112His) | Missense | Rare | Reduced receptor binding affinity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations (e.g., p.Arg104Ter, p.Met1Val) result in truncated or absent protein, impairing neurotrophic signaling.
Gain of Function (GOF)
No gain-of-function mutations reported in CNTF.
Dominant Negative (DN)
No dominant-negative mutations reported in CNTF.
View complete mutation data：
Gene Ontology (GO)
Pathways
• JAK-STAT signaling pathway (via gp130/LIFR)
• MAPK signaling pathway
• PI3K-Akt signaling pathway
• Neurotrophin signaling pathway
Protein Summary
CNTF is a 200-amino-acid secreted protein (22.9 kDa) that belongs to the IL-6 family of cytokines. It adopts a four-helix bundle structure and binds to the CNTF receptor alpha (CNTFR) to initiate signaling through LIFR/gp130 heterodimers. The protein is highly conserved in mammals and is critical for the maintenance of the nervous system. Recombinant CNTF has been investigated for therapeutic use in neurodegenerative diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CNTF Knockout HEK293 Cell Line | EDJ-KQ452 | Human | 1270 | Details Get a Quote |
| CNTFR Knockout HEK293 Cell Line | EDJ-KQ453 | Human | 1271 | Details Get a Quote |
| CNTF Knockout A-549 Cell Line | EDJ-KQ18760 | Human | 1270 | Details Get a Quote |
| CNTF Knockout HCT 116 Cell Line | EDJ-KQ18761 | Human | 1270 | Details Get a Quote |
| CNTF Knockout HeLa Cell Line | EDJ-KQ18762 | Human | 1270 | 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 |
