CNTFR

Chr 9

ciliary neurotrophic factor receptor

NCBI Gene: 1271 ENSG00000122756 UniProt: P26992

The ciliary neurotrophic factor receptor (CNTFR) encodes the ligand-specific alpha subunit of a tripartite cytokine receptor that binds ciliary neurotrophic factor and mediates neuronal survival, differentiation, and gene expression. This gene is highly constrained against loss-of-function variants (pLI 0.96, LOEUF 0.34) and mutations cause ciliary neurotrophic factor receptor deficiency, an autosomal recessive disorder affecting the nervous system. The condition involves impaired neuronal signaling pathways critical for motor neuron survival and muscle function.

ResearchSummary from RefSeq, UniProt

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]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.34

LOEUF· LoF intol.

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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