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Aliases for CNTFR Gene

Aliases for CNTFR Gene

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

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 Cold-Induced Sweating Syndrome 1. Among its related pathways are Innate Immune System 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 CIViC summary , 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

Enhancers for CNTFR Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09G034575 1 FANTOM5 ENCODE 11.4 +11.9 11913 5.1 ZNF263 CTCF RNF2 SUZ12 CBX2 RBBP5 REST JUND ZFHX2 POLR2A GALT RPP25L ENSG00000230074 ENHO FAM219A ENSG00000232983 ARID3C CNTFR ENSG00000230729 SIGMAR1
GH09G034333 1 ENCODE dbSUPER 10.4 +255.6 255580 1.4 SOX13 SAP130 ARID4B ZNF644 ZNF652 THAP11 SOX5 GATAD2A HMG20B KLF11 NUDT2 KIAA1161 C9orf24 CNTFR UBAP1 GC09P034356
GH09G034512 0.8 ENCODE 11.3 +77.0 77031 0.8 FOXA2 RAD21 THRB RARA ZNF335 TCF12 HMG20B NFIL3 MIER3 KLF16 CNTFR FAM219A DNAI1 RPP25L ARID3C GALT SIGMAR1 PIR54959 RN7SKP24
GH09G034514 0.8 ENCODE 11.3 +77.5 77523 0.2 SOX13 FOXA2 THRB TCF12 RERE FOXK2 NR2F6 ZNF652 HMG20B TEAD1 CNTFR FAM219A DNAI1 RPP25L ARID3C GALT SIGMAR1 NUDT2 PIR54959 RN7SKP24
GH09G034332 0.8 ENCODE 10.4 +257.6 257593 0.2 CTCF PKNOX1 SAP130 ARID4B RAD21 TEAD3 ZNF316 GATAD1 SMC3 NFE2 KIAA1161 C9orf24 CNTFR NUDT2 GC09P034356
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CNTFR on UCSC Golden Path with GeneCards custom track

Promoters for CNTFR Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000234552 440 201 CTCF MAZ MXI1 SUZ12 CBX2 RBBP5 ZBTB8A ZIC2 GLIS2 ZBTB26

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

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:
    • Heterotrimer of the alpha subunit, LIFR and IL6ST.

    Three dimensional structures from OCA and Proteopedia for CNTFR Gene

neXtProt entry for CNTFR Gene

Post-translational modifications for CNTFR Gene

  • Glycosylation at posLast=6060, posLast=7070, Asn142, and posLast=190190

Antibody Products

  • Cloud-Clone Corp. Antibodies for CNTFR
  • Santa Cruz Biotechnology (SCBT) Antibodies for CNTFR

Protein Products

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.
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 IEA --
GO:0004897 contributes_to ciliary neurotrophic factor receptor activity IDA,TAS 12643274
GO:0005102 receptor binding IPI 12707266
GO:0005515 protein binding IPI 18775332
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

  • Taconic Biosciences Mouse Models for CNTFR

CRISPR Products

miRNA for CNTFR Gene

miRTarBase miRNAs that target CNTFR

Inhibitory RNA Products

Clone Products

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 5
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for CNTFR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
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 & 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
1 Qiagen pathway for CNTFR Gene

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

Unigene Clusters for CNTFR Gene

Ciliary neurotrophic factor receptor:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for CNTFR Gene



Protein tissue co-expression partners for CNTFR Gene

NURSA nuclear receptor signaling pathways regulating expression of CNTFR Gene:

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(2.2)
genes like me logo Genes that share expression patterns with CNTFR: view

Primer Products

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 34 35
  • 99 (n)
dog
(Canis familiaris)
Mammalia CNTFR 34 35
  • 93.01 (n)
cow
(Bos Taurus)
Mammalia CNTFR 34 35
  • 91.49 (n)
mouse
(Mus musculus)
Mammalia Cntfr 34 16 35
  • 90.54 (n)
rat
(Rattus norvegicus)
Mammalia Cntfr 34
  • 89.14 (n)
oppossum
(Monodelphis domestica)
Mammalia CNTFR 35
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CNTFR 35
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves CNTFR 34 35
  • 72.08 (n)
lizard
(Anolis carolinensis)
Reptilia CNTFR 35
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cntfr 34
  • 69.51 (n)
African clawed frog
(Xenopus laevis)
Amphibia cntfr-prov 34
zebrafish
(Danio rerio)
Actinopterygii cntfr 34 35
  • 62.56 (n)
Species where no ortholog for CNTFR was found in the sources mined by GeneCards:
  • 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
rs193920748 Uncertain significance 34,556,323(-) GGCCT(C/G)ACCCT reference, missense
rs1000191382 -- 34,553,719(+) TCCTG(C/T)TGGTC intron-variant
rs1000294345 -- 34,579,452(+) GAGAC(-/AG)AGACA intron-variant
rs1000337098 -- 34,565,981(+) ACACT(C/T)GCTTA intron-variant
rs1000605310 -- 34,569,960(+) CTCTC(C/G)CCCTC intron-variant

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)

Relevant External Links for CNTFR Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
  • crisponi syndrome
cold-induced sweating syndrome 1
  • crisponi syndrome
amyotrophic lateral sclerosis 1
  • amyotrophic lateral sclerosis
- elite association - COSMIC cancer census association via MalaCards
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. 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 22 46 64
  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 N.Y. (J. Biol. Chem. 2003) 3 4 22 64
  3. 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 22 46 64
  4. 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 22 64
  5. The receptor for ciliary neurotrophic factor. (PMID: 1648265) Davis S. … Yancopoulos G.D. (Science 1991) 2 3 4 64

Products for CNTFR Gene

Sources for CNTFR Gene

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