CNTFR Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
CNTFR
Official Name
ciliary neurotrophic factor receptor [Source:HGNC Symbol;Acc:HGNC:2170]
Ensembl ID
ENSG00000122756
Bio databases IDs NCBI: 1271 Ensembl: ENSG00000122756
Aliases ciliary neurotrophic factor receptor
Synonyms ciliary neurotrophic factor receptor, CNTFR-alpha, CNTFR-α
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CNTFR often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • extracellular domain
  • cytokine binding
  • FN3
  • immunoglobulin domain
  • Immunoglobulin like
  • ciliary neurotrophic factor receptor
  • protein binding
  • receptor binding
  • Fibronectin type 3 domain
  • transmembrane receptor

Pathways

Biological processes and signaling networks where the CNTFR gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • osteoarthritis
  • liver cancer
  • epithelial cancer
  • colorectal cancer
  • hepatocellular carcinoma
  • hydronephrosis
  • hypothermia
  • motor dysfunction
  • Waldenström macroglobulinemia
regulated by
role in cell
  • number
  • expression in
  • proliferation
  • growth
  • quantity
  • apoptosis
  • cell death
  • phosphorylation in
  • differentiation
  • survival

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • cell surface
  • cellular membrane
  • apical membrane
  • sarcolemma
  • perikaryon
  • axons

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human CNTFR gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • sex differentiation
  • motor neuron apoptotic process
  • signal transduction
  • ciliary neurotrophic factor-mediated signaling pathway
  • suckling behavior
  • positive regulation of cell proliferation
  • nervous system development
  • brainstem development
  • skeletal muscle organ development
  • negative regulation of motor neuron apoptotic process
  • negative regulation of neuron apoptotic process

Cellular Component

Where in the cell the gene product is active
  • CNTFR-CLCF1 complex
  • ciliary neurotrophic factor receptor complex
  • external side of plasma membrane
  • extrinsic to membrane
  • plasma membrane
  • apical plasma membrane

Molecular Function

What the gene product does at the molecular level
  • ciliary neurotrophic factor receptor activity
  • protein binding
  • receptor binding
  • cytokine receptor activity
  • cytokine binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.