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Aliases for CNTFR Gene

Aliases for CNTFR Gene

  • Ciliary Neurotrophic Factor Receptor 2 3
  • CNTF Receptor Subunit Alpha 3 4
  • CNTFR-Alpha 3 4
  • Ciliary Neurotrophic Factor Receptor Subunit Alpha 3

External Ids for CNTFR Gene

Summaries for CNTFR Gene

Entrez Gene Summary for CNTFR Gene

  • 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]

GeneCards Summary for CNTFR Gene

CNTFR (Ciliary Neurotrophic Factor Receptor) is a Protein Coding gene. Diseases associated with CNTFR include cold-induced sweating syndrome and choroid cancer. Among its related pathways are Adipogenesis and PEDF Induced Signaling. GO annotations related to this gene include receptor binding and ciliary neurotrophic factor receptor activity. An important paralog of this gene is IL11RA.

UniProtKB/Swiss-Prot for CNTFR Gene

  • Binds to CNTF. The alpha subunit provides the receptor specificity

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CNTFR Gene

Genomics for CNTFR Gene

Genomic Location for CNTFR Gene

Start:
34,551,427 bp from pter
End:
34,590,714 bp from pter
Size:
39,288 bases
Orientation:
Minus strand

Genomic View for CNTFR Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CNTFR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CNTFR Gene

Regulatory Elements for CNTFR Gene

Proteins for CNTFR Gene

  • Protein details for CNTFR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P26992-CNTFR_HUMAN
    Recommended name:
    Ciliary neurotrophic factor receptor subunit alpha
    Protein Accession:
    P26992
    Secondary Accessions:
    • Q5U050

    Protein attributes for CNTFR Gene

    Size:
    372 amino acids
    Molecular mass:
    40633 Da
    Quaternary structure:
    • Heterotrimer of the alpha subunit, LIFR and IL6ST

    Three dimensional structures from OCA and Proteopedia for CNTFR Gene

neXtProt entry for CNTFR Gene

Proteomics data for CNTFR Gene at MOPED

Post-translational modifications for CNTFR Gene

  • Glycosylation at Asn60, Asn70, Asn142, and Asn190

Other Protein References for CNTFR Gene

No data available for DME Specific Peptides for CNTFR Gene

Domains for CNTFR Gene

Gene Families for CNTFR Gene

HGNC:
  • FN3 :Fibronectin type III domain containing
  • IGD :Immunoglobulin superfamily / Immunoglobulin-like domain containing
IUPHAR :

UniProtKB/Swiss-Prot:

CNTFR_HUMAN
Domain:
  • The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding:
    • P26992
  • Contains 2 fibronectin type-III domains.:
    • P26992
  • Contains 1 Ig-like C2-type (immunoglobulin-like) domain.:
    • P26992
Family:
  • Belongs to the type I cytokine receptor family. Type 3 subfamily.:
    • P26992
genes like me logo Genes that share domains with CNTFR: view

Function for CNTFR Gene

Molecular function for CNTFR Gene

GENATLAS Biochemistry: ciliary neurotrophic factor receptor,alpha
UniProtKB/Swiss-Prot Function: Binds to CNTF. The alpha subunit provides the receptor specificity

Gene Ontology (GO) - Molecular Function for CNTFR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004897 contributes_to ciliary neurotrophic factor receptor activity IDA 12643274
GO:0005102 receptor binding IPI 12707266
GO:0005515 protein binding --
GO:0019955 cytokine binding IPI 15272019
genes like me logo Genes that share ontologies with CNTFR: view

Phenotypes for CNTFR Gene

genes like me logo Genes that share phenotypes with CNTFR: view

Animal Models for CNTFR Gene

MGI Knock Outs for CNTFR:

miRNA for CNTFR Gene

miRTarBase miRNAs that target CNTFR

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for CNTFR Gene

Localization for CNTFR Gene

Subcellular locations from UniProtKB/Swiss-Prot for CNTFR Gene

Cell membrane; Lipid-anchor, GPI-anchor.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CNTFR Gene COMPARTMENTS Subcellular localization image for CNTFR gene
Compartment Confidence
plasma membrane 5
extracellular 4
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CNTFR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane --
GO:0016020 membrane --
GO:0016324 apical plasma membrane IDA 21912637
GO:0019898 extrinsic component of membrane TAS 1648265
GO:0031225 anchored component of membrane IEA --
genes like me logo Genes that share ontologies with CNTFR: view

Pathways for CNTFR Gene

genes like me logo Genes that share pathways with CNTFR: view

Pathways by source for CNTFR Gene

1 GeneGo (Thomson Reuters Life Sciences Research) pathway for CNTFR Gene
1 Qiagen pathway for CNTFR Gene
2 BioSystems pathways for CNTFR Gene

Gene Ontology (GO) - Biological Process for CNTFR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001967 suckling behavior IEA --
GO:0003360 brainstem development IEA --
GO:0007165 signal transduction NAS 1648265
GO:0007399 nervous system development TAS 7585948
GO:0007548 sex differentiation IEA --
genes like me logo Genes that share ontologies with CNTFR: view

Compounds for CNTFR Gene

(4) Novoseek inferred chemical compound relationships for CNTFR Gene

Compound -log(P) Hits PubMed IDs
gp 130 92.4 53
retinoic acid 1.42 1
lipid 0 3
acetylcholine 0 1
genes like me logo Genes that share compounds with CNTFR: view

Transcripts for CNTFR Gene

Unigene Clusters for CNTFR Gene

Ciliary neurotrophic factor receptor:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CNTFR Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12
SP1: -
SP2: - -
SP3:
SP4: -
SP5:
SP6:

Relevant External Links for CNTFR Gene

GeneLoc Exon Structure for
CNTFR
ECgene alternative splicing isoforms for
CNTFR

Expression for CNTFR Gene

mRNA expression in normal human tissues for CNTFR Gene

mRNA differential expression in normal tissues according to GTEx for CNTFR Gene

This gene is overexpressed in Muscle - Skeletal (5.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CNTFR Gene

SOURCE GeneReport for Unigene cluster for CNTFR Gene Hs.129966

mRNA Expression by UniProt/SwissProt for CNTFR Gene

P26992-CNTFR_HUMAN
Tissue specificity: Nervous system and skeletal muscle
genes like me logo Genes that share expressions with CNTFR: view

Orthologs for CNTFR Gene

This gene was present in the common ancestor of chordates.

Orthologs for CNTFR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CNTFR 36
  • 99 (n)
  • 99.5 (a)
CNTFR 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CNTFR 36
  • 91.49 (n)
  • 95.97 (a)
CNTFR 37
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CNTFR 36
  • 93.01 (n)
  • 97.85 (a)
CNTFR 37
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cntfr 36
  • 90.54 (n)
  • 95.79 (a)
Cntfr 16
Cntfr 37
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CNTFR 37
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CNTFR 37
  • 54 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cntfr 36
  • 89.14 (n)
  • 94.66 (a)
chicken
(Gallus gallus)
Aves CNTFR 36
  • 72.08 (n)
  • 72.17 (a)
CNTFR 37
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CNTFR 37
  • 63 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia cntfr-prov 36
tropical clawed frog
(Silurana tropicalis)
Amphibia cntfr 36
  • 69.51 (n)
  • 68.99 (a)
zebrafish
(Danio rerio)
Actinopterygii cntfr 36
  • 62.56 (n)
  • 58.9 (a)
cntfr 37
  • 53 (a)
OneToOne
Species with no ortholog for CNTFR:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CNTFR Gene

ENSEMBL:
Gene Tree for CNTFR (if available)
TreeFam:
Gene Tree for CNTFR (if available)

Paralogs for CNTFR Gene

Paralogs for CNTFR Gene

genes like me logo Genes that share paralogs with CNTFR: view

Variants for CNTFR Gene

Sequence variations from dbSNP and Humsavar for CNTFR Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs1075430 -- 34,564,041(+) TACGG(G/T)CACAC intron-variant
rs1077961 -- 34,554,718(-) TTCAG(A/G/T)AGGAA intron-variant
rs1077962 -- 34,554,636(-) AGTAC(C/T)GGGAC intron-variant
rs1111070 -- 34,554,355(+) TTGCC(A/G)CCTCA intron-variant
rs1124882 -- 34,554,229(-) GGTAT(C/G)TTTGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CNTFR Gene

Variant ID Type Subtype PubMed ID
nsv831543 CNV Loss 17160897
nsv519946 CNV Loss 19592680
nsv893038 CNV Loss 21882294
nsv818699 CNV Gain 17921354

Relevant External Links for CNTFR Gene

HapMap Linkage Disequilibrium report
CNTFR

Disorders for CNTFR Gene

(1) University of Copenhagen DISEASES for CNTFR Gene

(5) Novoseek inferred disease relationships for CNTFR Gene

Disease -log(P) Hits PubMed IDs
cold-induced sweating syndrome 90.2 1
leukemia 67 24
amyotrophic lateral sclerosis 42.8 2
tumors 4.85 1
obesity 0 1

Relevant External Links for CNTFR

Genetic Association Database (GAD)
CNTFR
Human Genome Epidemiology (HuGE) Navigator
CNTFR
genes like me logo Genes that share disorders with CNTFR: view

No data available for UniProtKB/Swiss-Prot for CNTFR Gene

Publications for CNTFR Gene

  1. Genomic organization and chromosomal localization of the human and mouse genes encoding the alpha receptor component for ciliary neurotrophic factor. (PMID: 7774913) Valenzuela D.M. … Yancopoulos G.D. (Genomics 1995) 3 4 23
  2. C174T polymorphism in the CNTF receptor gene is associated with fat-free mass in men and women. (PMID: 12807897) Roth S.M. … Ferrell R.E. (J. Appl. Physiol. 2003) 3 23 49
  3. Solution structure of the C-terminal domain of the ciliary neurotrophic factor (CNTF) receptor and ligand free associations among components of the CNTF receptor complex. (PMID: 12707266) Man D. … Ip N.Y. (J. Biol. Chem. 2003) 3 4 23
  4. Polymorphisms in the CNTF and CNTF receptor genes are associated with muscle strength in men and women. (PMID: 17272411) De Mars G. … Thomis M.A. (J. Appl. Physiol. 2007) 3 23 49
  5. The receptor for ciliary neurotrophic factor. (PMID: 1648265) Davis S. … Yancopoulos G.D. (Science 1991) 2 3 4

Products for CNTFR Gene

Sources for CNTFR Gene

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