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CNTFR Gene

protein-coding   GIFtS: 60
GCID: GC09M034541

Ciliary Neurotrophic Factor Receptor

  See CNTFR-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Ciliary Neurotrophic Factor Receptor1 2
CNTFR-alpha2 3
CNTF Receptor Subunit Alpha2 3
Ciliary Neurotrophic Factor Receptor Subunit Alpha2

External Ids:    HGNC: 21701   Entrez Gene: 12712   Ensembl: ENSG000001227567   OMIM: 1189465   UniProtKB: P269923   

Export aliases for CNTFR gene to outside databases

Previous GC identifers: GC09M034863 GC09M034720


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 choroid cancer, and cold-induced sweating syndrome. GO annotations related to this gene include ciliary neurotrophic factor receptor activity and receptor binding. An important paralog of this gene is IL11RA.

UniProtKB/Swiss-Prot: CNTFR_HUMAN, P26992
Function: Binds to CNTF. The alpha subunit provides the receptor specificity




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NT_008413.19  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CNTFR gene promoter:
         STAT1   STAT3   STAT1alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCNTFR promoter sequence
   Search Chromatin IP Primers for CNTFR

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CNTFR


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9p13   Ensembl cytogenetic band:  9p13.3   HGNC cytogenetic band: 9p13

CNTFR Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CNTFR gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M034541:  view genomic region     (about GC identifiers)

Start:
34,551,430 bp from pter      End:
34,590,138 bp from pter
Size:
38,709 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CNTFR_HUMAN, P26992 (See protein sequence)
Recommended Name: Ciliary neurotrophic factor receptor subunit alpha precursor  
Size: 372 amino acids; 40633 Da
Subunit: Heterotrimer of the alpha subunit, LIFR and IL6ST
1 PDB 3D structure from and Proteopedia for CNTFR:
1UC6 (3D)    
Secondary accessions: Q5U050

Explore the universe of human proteins at neXtProt for CNTFR: NX_P26992

Explore proteomics data for CNTFR at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn60, Asn70, Asn142, Asn190

  • See CNTFR Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001193940.1  NP_001833.1  NP_671693.1  

    ENSEMBL proteins: 
     ENSP00000242338   ENSP00000368265   ENSP00000388082  

    CNTFR Human Recombinant Protein Products:

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    Novus Biologicals CNTFR Protein
    Novus Biologicals CNTFR Lysate
    Sino Biological Recombinant Protein for CNTFR
    Sino Biological Cell Lysate for CNTFR
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    Cloud-Clone Corp. Proteins for CNTFR

     
    Search eBioscience for Proteins for CNTFR 

    CNTFR Antibody Products:

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    Novus Biologicals CNTFR Antibodies
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    LSBio Antibodies in human, mouse, rat for CNTFR

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    Search eBioscience for ELISAs for CNTFR 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    FN3: Fibronectin type III domain containing
    IGD: Immunoglobulin superfamily / Immunoglobulin-like domain containing

    IUPHAR Guide to PHARMACOLOGY protein family classification: Ciliary neurotrophic factor receptor alpha subunit
    IL-6 receptor family

    5 InterPro protein domains:
     IPR003598 Ig_sub2
     IPR003961 Fibronectin_type3
     IPR003530 Hematopoietin_rcpt_L_F3_CS
     IPR013783 Ig-like_fold
     IPR007110 Ig-like_dom

    Graphical View of Domain Structure for InterPro Entry P26992

    ProtoNet protein and cluster: P26992

    2 Blocks protein domains:
    IPB003530 Long hematopoietin receptor
    IPB003598 Immunoglobulin C-2 type


    UniProtKB/Swiss-Prot: CNTFR_HUMAN, P26992
    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


    Find genes that share domains with CNTFR           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CNTFR_HUMAN, P26992
    Function: Binds to CNTF. The alpha subunit provides the receptor specificity

         Genatlas biochemistry entry for CNTFR:
    ciliary neurotrophic factor receptor,alpha

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004897contributes to ciliary neurotrophic factor receptor activity IDA12643274
    GO:0005102receptor binding IPI12707266
    GO:0005515protein binding ----
    GO:0019955cytokine binding IPI15272019
         
    Find genes that share ontologies with CNTFR           About GenesLikeMe


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Cntfr):
     behavior/neurological  mortality/aging  nervous system 

    Find genes that share phenotypes with CNTFR           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for CNTFR: Cntfrtm1.1Lex Cntfrtm1Gdy

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CNTFR
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CNTFR

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CNTFR
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CNTFR

    miRNA
    Products:
        
    miRTarBase miRNAs that target CNTFR:
    hsa-mir-26b-5p (MIRT029854)

    Block miRNA regulation of human, mouse, rat CNTFR using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CNTFR (see all 44):
    hsa-miR-607 hsa-miR-429 hsa-miR-146a hsa-miR-765 hsa-miR-374a hsa-miR-486-3p hsa-miR-9 hsa-miR-637
    SwitchGear 3'UTR luciferase reporter plasmidCNTFR 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CNTFR
    Predesigned siRNA for gene silencing in human, mouse, rat CNTFR

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CNTFR

    Clone
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    OriGene clones in human, mouse for CNTFR (see all 12)
    OriGene ORF clones in mouse, rat for CNTFR
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    GenScript: all cDNA clones in your preferred vector (see all 2): CNTFR (NM_147164)
    Sino Biological Human cDNA Clone for CNTFR
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CNTFR
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CNTFR

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for CNTFR 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CNTFR


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CNTFR_HUMAN, P26992: Cell membrane; Lipid-anchor, GPI-anchor
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular4
    cytoskeleton1
    endoplasmic reticulum1
    lysosome1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--
    GO:0016020membrane ----
    GO:0019898extrinsic component of membrane TAS1648265
    GO:0031225anchored component of membrane IEA--
    GO:0097059CNTFR-CLCF1 complex IDA11285233

    Find genes that share ontologies with CNTFR           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CNTFR About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1CNTF Signaling
    CNTF Signaling0.50
    2PEDF Induced Signaling
    Cytokine-cytokine receptor interaction0.43
    3Translation Insulin regulation of translation
    Development CNTF receptor signaling0.43
    4Notch signaling pathway (KEGG)
    Delta-Notch Signaling Pathway0.33
    5Jak-STAT signaling pathway
    Jak-STAT signaling pathway


    Find genes that share SuperPaths with CNTFR           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for CNTFR
        CNTF Signaling

    1 GeneGo (Thomson Reuters) Pathway for CNTFR
        Development CNTF receptor signaling

    2 BioSystems Pathways for CNTFR
        Adipogenesis
    Delta-Notch Signaling Pathway



    2 Kegg Pathways  (Kegg details for CNTFR):
        Cytokine-cytokine receptor interaction
    Jak-STAT signaling pathway

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CNTFR: 
              Interferons & Receptors in human mouse rat
              Neurotrophins & Receptors in human mouse rat
              Polycomb & Trithorax Target Genes in human mouse rat
              Obesity in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CNTFR

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CNTFR (P269922, 3 ENSP000002423384) via UniProtKB, MINT, STRING, and/or I2D (see all 34)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABL1P005192, 3, ENSP000003614234MINT-8110143 I2D: score=3 STRING: ENSP00000361423
    FYNP062412, 3, ENSP000003576564MINT-8111043 I2D: score=3 STRING: ENSP00000357656
    CRAMP1LQ96RY52, 3, ENSP000002939254MINT-8252604 I2D: score=1 STRING: ENSP00000293925
    APPBP2Q926243, ENSP000000831824I2D: score=4 STRING: ENSP00000083182
    CRKP461083, ENSP000003005744I2D: score=2 STRING: ENSP00000300574
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001967suckling behavior IEA--
    GO:0003360brainstem development IEA--
    GO:0007165signal transduction NAS1648265
    GO:0007399nervous system development TAS7585948
    GO:0007548sex differentiation IEA--

    Find genes that share ontologies with CNTFR           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CNTFR

    4 Novoseek inferred chemical compound relationships for CNTFR gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gp 130 92.4 60 12765290 (4), 12707266 (4), 7852997 (3), 10950877 (3) (see all 30)
    retinoic acid 1.42 1 9488162 (1)
    lipid 0 4 17448148 (2), 15054106 (1)
    acetylcholine 0 1 9736657 (1)



    Find genes that share compounds with CNTFR           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CNTFR gene (3 alternative transcripts): 
    NM_001207011.1  NM_001842.4  NM_147164.2  

    Unigene Cluster for CNTFR:

    Ciliary neurotrophic factor receptor
    Hs.129966  [show with all ESTs]
    Unigene Representative Sequence: AK127444
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000351266 ENST00000378980(uc003zup.2 uc003zuq.2 uc022bgg.1)
    ENST00000417345
    miRNA
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    Block miRNA regulation of human, mouse, rat CNTFR using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CNTFR (see all 44):
    hsa-miR-607 hsa-miR-429 hsa-miR-146a hsa-miR-765 hsa-miR-374a hsa-miR-486-3p hsa-miR-9 hsa-miR-637
    SwitchGear 3'UTR luciferase reporter plasmidCNTFR 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): CNTFR (NM_147164)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CNTFR
    Primer
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    OriGene qPCR primer pairs and template standards for CNTFR
    OriGene qSTAR qPCR primer pairs in human, mouse for CNTFR
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CNTFR
      QuantiTect SYBR Green Assays in human, mouse, rat CNTFR
      QuantiFast Probe-based Assays in human, mouse, rat CNTFR

    Additional mRNA sequence: 

    AK127444.1 BC001492.2 BT019824.1 M73238.1 

    4 DOTS entries:

    DT.409104  DT.100781270  DT.100719333  DT.95154739 

    Selected AceView cDNA sequences (see all 94):

    CR624688 AI934646 BX366394 BC001492 CR615036 BX364435 NM_147164 CR615362 
    NM_001842 F00357 CR610538 AW950312 BM710190 BG059668 BM714356 M73238 
    AK127444 BM719097 AI039219 AL527029 BF311347 AL563201 BX417571 BX382444 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CNTFR (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for CNTFR

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CNTFR expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGCTAACCC
    CNTFR Expression
    About this image


    CNTFR expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 16 entries
             Thalamus
             Fetal Neuronal Stem Cells (NSC)   
             Olfactory Bulb   
     
     NULL (Uncategorized)
             Mesoderm-like cells
     
     Neural Ectoderm (Nervous System)
             Neural ectoderm cells
     
     Neural Tube (Nervous System)
             Floor plate-like cells
     
     Adipose (Muscoskeletal System)
    CNTFR Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CNTFR Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.129966

    UniProtKB/Swiss-Prot: CNTFR_HUMAN, P26992
    Tissue specificity: Nervous system and skeletal muscle

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CNTFR: 
              Interferons & Receptors in human mouse rat
              Neurotrophins & Receptors in human mouse rat
              Polycomb & Trithorax Target Genes in human mouse rat
              Obesity in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for CNTFR
    OriGene qSTAR qPCR primer pairs in human, mouse for CNTFR
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CNTFR
    QuantiTect SYBR Green Assays in human, mouse, rat CNTFR
    QuantiFast Probe-based Assays in human, mouse, rat CNTFR
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CNTFR

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CNTFR gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cntfr1 , 5 ciliary neurotrophic factor receptor1, 5 90.54(n)1
    95.79(a)1
      4 (21.81 cM)5
    128041  NM_001136056.21  NP_001129528.11 
     416574985 
    chicken
    (Gallus gallus)
    Aves CNTFR1 ciliary neurotrophic factor receptor 72.08(n)
    72.17(a)
      395885  NM_205028.1  NP_990359.1 
    lizard
    (Anolis carolinensis)
    Reptilia CNTFR6
    ciliary neurotrophic factor receptor
    63(a)
    1 ↔ 1
    GL343305.1(1100822-1579121)
    African clawed frog
    (Xenopus laevis)
    Amphibia cntfr-prov2 ciliary neurotrophic factor receptor 76.48(n)    BC043961.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cntfr1 ciliary neurotrophic factor receptor 62.56(n)
    58.9(a)
      368438  NM_001098242.1  NP_001091712.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CNTFR gene
    IL11RA2  ENSG000002587282  IL6R2  EBI32  

    Find genes that share paralogs with CNTFR           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CNTFR (see all 468)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1923689511,2
    --34550999(+) TAGCAA/CCCCTG 3 -- ds50010--------
    rs78687491,2
    C,F--34551249(+) CAACTC/GTGTGC 3 -- ds50011Minor allele frequency- G:0.14WA 118
    rs727352741,2
    C,F--34551274(+) ACCCCC/GCAAGA 3 -- ds50011Minor allele frequency- G:0.04NA 120
    rs1127025121,2
    C--34551446(+) GTGACA/GTTTAA 3 -- ut310--------
    rs1852605381,2
    --34551449(+) ACGTTC/TAATGA 3 -- ut310--------
    rs1486401401,2
    --34551682(+) TAATCG/TGATGG 3 -- ut310--------
    rs412748531,2
    C,F--34551896(+) GTGCGG/ACAGGG 3 -- ut314Minor allele frequency- A:0.25NA WA EA 242
    rs1885798581,2
    --34551919(+) AGGCCC/TGGGCC 3 -- ut310--------
    rs1150349261,2
    C--34551920(+) GGCCCA/GGGCCC 3 -- ut310--------
    rs1927738521,2
    --34551929(+) CCGCCA/GGGGTC 3 -- ut310--------

    HapMap Linkage Disequilibrium report for CNTFR (34551430 - 34590138 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for CNTFR:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv519946CNV Loss19592680
    nsv893038CNV Loss21882294
    nsv831543CNV Loss17160897
    nsv818699CNV Gain17921354

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CNTFR
    DNA2.0 Custom Variant and Variant Library Synthesis for CNTFR

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 118946    OMIM disorders: --

    3 diseases for CNTFR:    
    About MalaCards
    choroid cancer    cold-induced sweating syndrome    amyotrophic lateral sclerosis

    1 disease from the University of Copenhagen DISEASES database for CNTFR:
    Choroid cancer

    Find genes that share disorders with CNTFR           About GenesLikeMe

    5 Novoseek inferred disease relationships for CNTFR gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cold-induced sweating syndrome 90.2 1 16782820 (1)
    leukemia 67 24 11358282 (2), 7852997 (1), 7774913 (1), 9630704 (1) (see all 23)
    amyotrophic lateral sclerosis 42.8 2 9485075 (1), 7595599 (1)
    tumors 4.85 1 17077326 (1)
    obesity 0 1 16537512 (1)

    Genetic Association Database (GAD): CNTFR
    Human Genome Epidemiology (HuGE) Navigator: CNTFR (11 documents)

    Export disorders for CNTFR gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for CNTFR gene, integrated from 10 sources (see all 99):
    (articles sorted by number of sources associating them with CNTFR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The receptor for ciliary neurotrophic factor. (PubMed id 1648265)1, 2, 3 Davis S.... Yancopoulos G.D. (Science 1991)
    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. (PubMed id 12707266)1, 2, 9 Man D.... Ip N.Y. (J. Biol. Chem. 2003)
    3. Polymorphisms in the CNTF and CNTF receptor genes are associated with muscle strength in men and women. (PubMed id 17272411)1, 4, 9 De Mars G....Thomis M.A. (J. Appl. Physiol. 2007)
    4. C174T polymorphism in the CNTF receptor gene is associated with fat-free mass in men and women. (PubMed id 12807897)1, 4, 9 Roth S.M....Ferrell R.E. (J. Appl. Physiol. 2003)
    5. Genomic organization and chromosomal localization of the human and mouse genes encoding the alpha receptor component for ciliary neurotrophic factor. (PubMed id 7774913)1, 2, 9 Valenzuela D.M....Yancopoulos G.D. (Genomics 1995)
    6. Role of the neurotrophin network in eating disorders' subphenotypes: body mass index and age at onset of the disease. (PubMed id 20219210)1, 4 GratacA^s M....Estivill X. (J Psychiatr Res 2010)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    8. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)1, 4 Yerges L.M....Zmuda J.M. (J. Bone Miner. Res. 2009)
    9. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PubMed id 19086053)1, 4 GratacA^s M....Carracedo A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009)
    10. Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease. (PubMed id 19204726)1, 4 Chapuis J....Lambert J.C. (Mol. Psychiatry 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 1271 HGNC: 2170 AceView: CNTFR Ensembl:ENSG00000122756 euGenes: HUgn1271
    ECgene: CNTFR Kegg: 1271 H-InvDB: CNTFR

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for CNTFR Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for CNTFR gene:
    Search GeneIP for patents involving CNTFR

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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