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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

External Ids for CNTFR Gene

Previous GeneCards Identifiers for CNTFR Gene

  • GC09M034863
  • GC09M034720

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 attention deficit-hyperactivity disorder. 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

Regulatory Elements for CNTFR Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CNTFR Gene

Chromosome:
9
Start:
34,551,432 bp from pter
End:
34,590,140 bp from pter
Size:
38,709 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

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 Asn 60, Asn 70, Asn 142, and Asn 190

Other Protein References for CNTFR Gene

Antibody Products

  • Cloud-Clone Corp. Antibodies for CNTFR

No data available for DME Specific Peptides for CNTFR Gene

Domains & Families for CNTFR Gene

Suggested Antigen Peptide Sequences for CNTFR Gene

Graphical View of Domain Structure for InterPro Entry

P26992

UniProtKB/Swiss-Prot:

CNTFR_HUMAN :
  • The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding
  • Belongs to the type I cytokine receptor family. Type 3 subfamily.
Domain:
  • The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding
  • Contains 2 fibronectin type-III domains.
  • Contains 1 Ig-like C2-type (immunoglobulin-like) domain.
Family:
  • Belongs to the type I cytokine receptor family. Type 3 subfamily.
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:0004896 cytokine receptor activity --
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
genes like me logo Genes that share phenotypes with CNTFR: view

Animal Models for CNTFR Gene

MGI Knock Outs for CNTFR:

Animal Model Products

miRNA for CNTFR Gene

miRTarBase miRNAs that target CNTFR

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CNTFR

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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

Gene Ontology (GO) - Cellular Components for CNTFR Gene

GO ID Qualified GO term Evidence PubMed IDs
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 --
GO:0070110 ciliary neurotrophic factor receptor complex IDA 12643274
genes like me logo Genes that share ontologies with CNTFR: view

Pathways & Interactions for CNTFR Gene

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

Pathways by source for CNTFR Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

SIGNOR curated interactions for CNTFR Gene

Activates:
Is activated by:

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

Drugs & Compounds for CNTFR Gene

(1) Drugs for CNTFR Gene - From: NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Acetylcholine Experimental Pharma Full agonist, Agonist 104

(3) Additional Compounds for CNTFR Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
GP 130
LIPID
retinoic acid
302-79-4
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:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CNTFR

Flow Cytometry Products

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 (x5.8).

Protein differential expression in normal tissues from HIPED for CNTFR Gene

This gene is overexpressed in Fetal Brain (21.1), Serum (12.9), and Retina (11.5).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with CNTFR: view

Protein tissue co-expression partners for CNTFR Gene

Primer Products

In Situ Assay Products

Orthologs for CNTFR Gene

This gene was present in the common ancestor of chordates.

Orthologs for CNTFR Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CNTFR 35
  • 91.49 (n)
  • 95.97 (a)
CNTFR 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CNTFR 35
  • 93.01 (n)
  • 97.85 (a)
CNTFR 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cntfr 35
  • 90.54 (n)
  • 95.79 (a)
Cntfr 16
Cntfr 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CNTFR 35
  • 99 (n)
  • 99.5 (a)
CNTFR 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cntfr 35
  • 89.14 (n)
  • 94.66 (a)
oppossum
(Monodelphis domestica)
Mammalia CNTFR 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CNTFR 36
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves CNTFR 35
  • 72.08 (n)
  • 72.17 (a)
CNTFR 36
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CNTFR 36
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cntfr 35
  • 69.51 (n)
  • 68.99 (a)
African clawed frog
(Xenopus laevis)
Amphibia cntfr-prov 35
zebrafish
(Danio rerio)
Actinopterygii cntfr 35
  • 62.56 (n)
  • 58.9 (a)
cntfr 36
  • 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

Variation tolerance for CNTFR Gene

Residual Variation Intolerance Score: 14.57% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.13; 22.85% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CNTFR Gene

HapMap Linkage Disequilibrium report
CNTFR

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CNTFR Gene

Disorders for CNTFR Gene

MalaCards: The human disease database

(3) MalaCards diseases for CNTFR Gene - From: DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
cold-induced sweating syndrome
  • sohar-crisponi syndrome
attention deficit-hyperactivity disorder
  • attention deficit hyperactivity disorder
amyotrophic lateral sclerosis 1
  • amyotrophic lateral sclerosis
- elite association
Search CNTFR in MalaCards View complete list of genes associated with diseases

Relevant External Links for CNTFR

Genetic Association Database (GAD)
CNTFR
Human Genome Epidemiology (HuGE) Navigator
CNTFR
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CNTFR
genes like me logo Genes that share disorders with CNTFR: view

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

Publications for CNTFR Gene

  1. Identification of ciliary neurotrophic factor receptor alpha as a mediator of neurotoxicity induced by alpha-synuclein. (PMID: 20340160) Liu J. … Zhang J. (Proteomics 2010) 23 67
  2. Identification of soluble WSX-1 not as a dominant-negative but as an alternative functional subunit of a receptor for an anti-Alzheimer's disease rescue factor Humanin. (PMID: 19703422) Hashimoto Y. … Matsuoka M. (Biochem. Biophys. Res. Commun. 2009) 23 67
  3. Humanin inhibits neuronal cell death by interacting with a cytokine receptor complex or complexes involving CNTF receptor alpha/WSX-1/gp130. (PMID: 19386761) Hashimoto Y. … Matsuoka M. (Mol. Biol. Cell 2009) 23 67
  4. Detection of ligand-induced CNTF receptor dimers in living cells by fluorescence cross correlation spectroscopy. (PMID: 19482006) Neugart F. … Graeve L. (Biochim. Biophys. Acta 2009) 23 67
  5. Ciliary neurotrophic factor receptor alpha subunit-modulated multiple downstream signaling pathways in hepatic cancer cell lines and their biological implications. (PMID: 18307269) Hu X. … Gu J. (Hepatology 2008) 23 67

Products for CNTFR Gene

Sources for CNTFR Gene

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