Description: Homo sapiens ciliary neurotrophic factor receptor (CNTFR), transcript variant 2, mRNA. RefSeq Summary (NM_001842): 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]. Transcript (Including UTRs) Position: hg19 chr9:34,551,430-34,589,735 Size: 38,306 Total Exon Count: 9 Strand: - Coding Region Position: hg19 chr9:34,552,069-34,568,979 Size: 16,911 Coding Exon Count: 8
ID:CNTFR_HUMAN DESCRIPTION: RecName: Full=Ciliary neurotrophic factor receptor subunit alpha; Short=CNTF receptor subunit alpha; Short=CNTFR-alpha; Flags: Precursor; FUNCTION: Binds to CNTF. The alpha subunit provides the receptor specificity. SUBUNIT: Heterotrimer of the alpha subunit, LIFR and IL6ST. SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor. TISSUE SPECIFICITY: Nervous system and skeletal muscle. DOMAIN: The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell- surface receptor binding. SIMILARITY: Belongs to the type I cytokine receptor family. Type 3 subfamily. SIMILARITY: Contains 2 fibronectin type-III domains. SIMILARITY: Contains 1 Ig-like C2-type (immunoglobulin-like) domain.
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): CNTFR CDC HuGE Published Literature: CNTFR Positive Disease Associations: Arteries
, body mass
, muscle testing Related Studies:
body mass Roth, S. M. et al. 2003, C174T polymorphism in the CNTF receptor gene is associated with fat-free mass in men and women., Journal of applied physiology (Bethesda, Md : 1985). 2003 Oct;95(4):1425-30.
[PubMed 12807897]
There were no significant sex by genotype interactions. The results indicate that the C174T polymorphism in exon 9 of CNTFR is significantly associated with FFM in men and women, with concomitant differences in muscular strength.
muscle testing De Mars, G. et al. 2007, Polymorphisms in the CNTF and CNTF receptor genes are associated with muscle strength in men and women, J Appl Physiol 2007.
[PubMed 17272411]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P26992
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0001967 suckling behavior GO:0003360 brainstem development GO:0007165 signal transduction GO:0007399 nervous system development GO:0007548 sex differentiation GO:0008284 positive regulation of cell proliferation GO:0019221 cytokine-mediated signaling pathway GO:0043524 negative regulation of neuron apoptotic process GO:0060538 skeletal muscle organ development GO:0070120 ciliary neurotrophic factor-mediated signaling pathway
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