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 rec... See more...

Aliases for CNTFR Gene

Aliases for CNTFR Gene

  • Ciliary Neurotrophic Factor Receptor 2 3 5
  • Ciliary Neurotrophic Factor Receptor Subunit Alpha 3 4
  • CNTF Receptor Subunit Alpha 3 4
  • CNTFR-Alpha 3 4
  • CNTFR 5

External Ids for CNTFR Gene

Previous GeneCards Identifiers for CNTFR Gene

  • GC09M034863
  • GC09M034720
  • GC09M034541

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 Crisponi/Cold-Induced Sweating Syndrome 1. Among its related pathways are Interleukin-6 family signaling and CNTF Signaling. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and ciliary neurotrophic factor receptor activity. An important paralog of this gene is IL11RA.

UniProtKB/Swiss-Prot Summary for CNTFR Gene

  • Binds to CNTF. The alpha subunit provides the receptor specificity. Receptor for heterodimeric neurotropic cytokine composed of CLCF1/CLC and CRLF1/CLF-1 (PubMed:26858303).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CNTFR Gene

Genomics for CNTFR Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CNTFR Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J034590 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +0.1 100 3.4 ZNF654 IKZF1 ZNF600 ZIC2 CTCF REST BHLHE40 SIN3A KLF9 SMAD4 CNTFR GALT ENSG00000230074 RPP25L LOC105376023 ENHO
GH09J034592 Enhancer 0.7 ENCODE 250.7 -1.7 -1705 0.1 ZNF654 SIN3A SMAD4 GABPB1 TEAD3 ZNF205 CTCF MYC REST IKZF1 CNTFR ENSG00000230074 RPP25L
GH09J034327 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.4 +261.0 261047 4.1 SP1 ZNF207 MYC IKZF1 ZNF600 POLR2A BRCA1 ZBTB10 YY1 MXD4 NUDT2 piR-57461-275 UBAP2 MYORG C9orf24 UNC13B CNTFR KIF24 NOL6 VCP
GH09J034511 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas 11.3 +78.3 78285 4.6 CEBPA ZSCAN16 ZIC2 FOXA1 FEZF1 FOXA2 CTBP1 SP2 SMAD4 CUX1 UBAP2 CNTFR DNAI1 FAM219A NUDT2 RPP25L ARID3C SIGMAR1 GALT KIF24
GH09J034575 Enhancer 0.9 FANTOM5 ENCODE CraniofacialAtlas 11.4 +12.1 12083 5.4 JUND ZNF341 REST GATA2 ZNF366 EGR2 EZH2 POLR2A ZFHX2 KDM1A GALT RPP25L ENSG00000230074 ENHO FAM219A CNTFR-AS1 ENSG00000232983 ARID3C CNTFR ENSG00000230729
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CNTFR on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CNTFR

Top Transcription factor binding sites by QIAGEN in the CNTFR gene promoter:
  • STAT1
  • STAT1alpha
  • STAT3

Genomic Locations for CNTFR Gene

Latest Assembly
chr9:34,551,432-34,590,386
(GRCh38/hg38)
Size:
38,955 bases
Orientation:
Minus strand

Previous Assembly
chr9:34,551,431-34,590,157
(GRCh37/hg19 by Entrez Gene)
Size:
38,727 bases
Orientation:
Minus strand

chr9:34,551,430-34,590,121
(GRCh37/hg19 by Ensembl)
Size:
38,692 bases
Orientation:
Minus strand

Genomic View for CNTFR Gene

Genes around CNTFR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CNTFR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    • Forms a heterotrimer with LIFR and IL6ST. Interacts with heterodimeric neurotropic cytokine composed of CLCF1/CLC and CRLF1/CLF-1 (PubMed:26858303). Either alone or in complex with the heterodimer CLCF1-CRLF1 interacts with SORL1; this interaction may promote internalization and lysosomal degradation (PubMed:26858303).

    Three dimensional structures from OCA and Proteopedia for CNTFR Gene

neXtProt entry for CNTFR Gene

Post-translational modifications for CNTFR Gene

  • Glycosylation at Asn60, Asn70, Asn142, and Asn190
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CNTFR Gene

Domains & Families for CNTFR Gene

Gene Families for CNTFR Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for CNTFR Gene

InterPro:
Blocks:
  • Immunoglobulin C-2 type
  • Long hematopoietin receptor, soluble alpha chain

Suggested Antigen Peptide Sequences for CNTFR Gene

GenScript: Design optimal peptide antigens:
  • Ciliary neurotrophic factor receptor subunit alpha (CNTFR_HUMAN)
  • Ciliary neurotrophic factor receptor, isoform CRA_a (Q5U050_HUMAN)

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.
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

UniProtKB/Swiss-Prot Function:
Binds to CNTF. The alpha subunit provides the receptor specificity. Receptor for heterodimeric neurotropic cytokine composed of CLCF1/CLC and CRLF1/CLF-1 (PubMed:26858303).
GENATLAS Biochemistry:
ciliary neurotrophic factor receptor,alpha

Phenotypes From GWAS Catalog for CNTFR Gene

Gene Ontology (GO) - Molecular Function for CNTFR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004896 cytokine receptor activity IEA,IBA 21873635
GO:0004897 contributes_to ciliary neurotrophic factor receptor activity TAS,IDA 12643274
GO:0005102 signaling receptor binding IPI 12707266
GO:0005515 protein binding IEA,IPI 18775332
GO:0019955 cytokine binding IBA,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 Models for research

  • Taconic Biosciences Mouse Models for CNTFR

miRNA for CNTFR Gene

miRTarBase miRNAs that target CNTFR

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CNTFR

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CNTFR gene
Compartment Confidence
plasma membrane 5
extracellular 4
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for CNTFR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0009897 external side of plasma membrane IBA 21873635
GO:0016020 membrane IEA --
GO:0016324 apical plasma membrane IDA 21912637
GO:0019898 extrinsic component of membrane TAS 1648265
genes like me logo Genes that share ontologies with CNTFR: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CNTFR Gene

Pathways & Interactions for CNTFR Gene

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

Pathways by source for CNTFR Gene

1 GeneGo (Thomson Reuters) pathway for CNTFR Gene
  • Development CNTF receptor signaling
1 Qiagen pathway for CNTFR Gene
  • CNTF Signaling

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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CNTFR: view

Transcripts for CNTFR Gene

mRNA/cDNA for CNTFR Gene

3 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CNTFR

Clone products for research

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

Expression for CNTFR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for CNTFR Gene



Protein tissue co-expression partners for CNTFR Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CNTFR

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.

Evidence on tissue expression from TISSUES for CNTFR Gene

  • Nervous system(4.7)
  • Muscle(2.5)
  • Eye(2)
genes like me logo Genes that share expression patterns with CNTFR: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CNTFR Gene

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 29 30
  • 99 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CNTFR 29 30
  • 93.01 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CNTFR 29 30
  • 91.49 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cntfr 29 16 30
  • 90.54 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cntfr 29
  • 89.14 (n)
Oppossum
(Monodelphis domestica)
Mammalia CNTFR 30
  • 80 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CNTFR 30
  • 54 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CNTFR 29 30
  • 72.08 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CNTFR 30
  • 63 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cntfr 29
  • 69.51 (n)
African clawed frog
(Xenopus laevis)
Amphibia cntfr-prov 29
Zebrafish
(Danio rerio)
Actinopterygii cntfr 29 30
  • 62.56 (n)
OneToOne
Species where no ortholog for CNTFR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for CNTFR: view image
Alliance of Genome Resources:
Additional Orthologs for CNTFR

Paralogs for CNTFR Gene

Variants for CNTFR Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CNTFR Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs193920748 Uncertain Significance: Malignant tumor of prostate 34,556,323(-) C/G
NM_147164.3(CNTFR):c.700G>C (p.Asp234His)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CNTFR Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv12659n54 CNV loss 21841781
esv3620335 CNV gain 21293372
nsv1110013 CNV deletion 24896259
nsv1125318 OTHER inversion 24896259
nsv1161857 CNV deletion 26073780
nsv519946 CNV loss 19592680
nsv818699 CNV gain 17921354
nsv831543 CNV loss 17160897
nsv951699 CNV deletion 24416366

Variation tolerance for CNTFR Gene

Residual Variation Intolerance Score: 14.6% 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)

Additional Variant Information for CNTFR Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CNTFR
Leiden Open Variation Database (LOVD)
CNTFR

SNP Genotyping and Copy Number Assays for research

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

Disorders for CNTFR Gene

MalaCards: The human disease database

(7) MalaCards diseases for CNTFR Gene - From: COP and GCD

- elite association - COSMIC cancer census association via MalaCards
Search CNTFR in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CNTFR

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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. Polymorphisms in the CNTF and CNTF receptor genes are associated with muscle strength in men and women. (PMID: 17272411) De Mars G … Thomis MA (Journal of applied physiology (Bethesda, Md. : 1985) 2007) 3 22 40
  2. 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 NY (The Journal of biological chemistry 2003) 3 4 22
  3. C174T polymorphism in the CNTF receptor gene is associated with fat-free mass in men and women. (PMID: 12807897) Roth SM … Ferrell RE (Journal of applied physiology (Bethesda, Md. : 1985) 2003) 3 22 40
  4. Genomic organization and chromosomal localization of the human and mouse genes encoding the alpha receptor component for ciliary neurotrophic factor. (PMID: 7774913) Valenzuela DM … Jenkins NA (Genomics 1995) 3 4 22
  5. The receptor for ciliary neurotrophic factor. (PMID: 1648265) Davis S … Yancopoulos GD (Science (New York, N.Y.) 1991) 2 3 4

Products for CNTFR Gene

Sources for CNTFR Gene