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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CNTFR Gene

protein-coding   GIFtS: 60
GCID: GC09M034541

Ciliary Neurotrophic Factor Receptor

  See 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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are FLT3 Signaling and Transcription Receptor-mediated HIF regulation. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NT_008413.18  NC_018920.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CNTFR gene promoter:
         STAT1   STAT3   STAT1alpha   
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Cell membrane; Lipid-anchor, GPI-anchor
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 

CNTFR Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

CNTFR Protein Expression

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

ENSEMBL proteins: 
 ENSP00000242338   ENSP00000368265   ENSP00000388082  

Human Recombinant Protein Products for CNTFR: 
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OriGene Protein Over-expression Lysate for CNTFR
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Novus Biologicals CNTFR Lysate
Sino Biological Recombinant Protein for CNTFR
Sino Biological Cell Lysate for CNTFR 
Browse ProSpec Recombinant Proteins
Cloud-Clone Corp. Proteins for CNTFR 

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

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

CNTFR for ontologies           About GeneDecksing



CNTFR Antibody Products: 
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Abcam antibodies for CNTFR
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LSBio Antibodies in human, mouse, rat for CNTFR 

Assay Products for CNTFR: 
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Cloud-Clone Corp. ELISAs for CNTFR 
Cloud-Clone Corp. CLIAs for CNTFR


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
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 α 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


CNTFR for domains           About GeneDecksing


(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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

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 (GO ID links to tree view):    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
     
CNTFR for ontologies           About GeneDecksing


Phenotypes:
     3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Cntfr):
 behavior/neurological  mortality/aging  nervous system 

CNTFR for phenotypes           About GeneDecksing

Animal Models:
     MGI mouse knock-out Cntfrtm1Gdy for CNTFR

   inGenious Targeting Laboratory - Custom generated mouse model solutions for CNTFR 
   inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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
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QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CNTFR
8/44 QIAGEN miScript miRNA 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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Gene Editing
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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
Sirion Biotech Customized lentivirus for stable overexpression of CNTFR 
                     Customized lentivirus expression plasmids for stable overexpression of CNTFR 

Cell Line
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GenScript Custom overexpressing Cell Line Services for CNTFR
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CNTFR


(Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for CNTFR About   (see all 6)                                                                                              See pathways by source

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

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways

1 EMD Millipore Pathway for CNTFR
    Development CNTF receptor signaling

1 Downloadable PowerPoint Slide of QIAGEN 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


CNTFR for pathways           About GeneDecksing

Interactions:

    SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CNTFR

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

5/33 Interacting proteins for CNTFR (P269922, 3 ENSP000002423384) via UniProtKB, MINT, STRING, and/or I2D (see all 33)
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): 5/9 biological process terms (GO ID links to tree view) (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--

CNTFR for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

CNTFR for compounds           About GeneDecksing

Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

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)

Search CenterWatch for drugs/clinical trials and news about CNTFR

(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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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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QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CNTFR
8/44 QIAGEN miScript miRNA 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:
     
Browse for Gene Knock-down Tools from EMD Millipore
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QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CNTFR
Clone
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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)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for CNTFR
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CNTFR
Sirion Biotech Customized lentivirus for stable overexpression of CNTFR 
                     Customized lentivirus expression plasmids for stable overexpression of 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
SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CNTFR
  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CNTFR
  QIAGEN 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 

24/94 AceView cDNA sequences (see all 94):

BX366394 CR615362 M73238 F00357 BM714356 NM_147164 AI934646 BM710190 
NM_001842 BG059668 BX364435 CR615036 BC001492 CR624688 AK127444 AW950312 
BM719097 CR610538 BX332237 BX096435 AL563201 BX382444 BX417571 BM680741 

GeneLoc Exon Structure

5/6 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CNTFR expression in normal human tissues (normalized intensities)      CNTFR embryonic expression: see
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 
 5/4 selected tissues (see all 4) fully expand
 
 Brain (Nervous System)    fully expand to see all 16 entries
         Thalamus
         Fetal Neuronal Stem Cells (NSC)   
         Olfactory Bulb   
 
 Neuron (Nervous System)    fully expand to see all 2 entries
         Human Neurons   
         nerve   
 
 Spinal Cord (Nervous System)    fully expand to see all 2 entries
         Dorsal Horn   
 
 Mesoderm (Gastrulation Derivatives)
         Mesoderm-like cells ( Derivation of cardiomyocytes from pluripotent stem cells and...

See CNTFR Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CNTFR

SOURCE GeneReport for Unigene cluster: Hs.129966

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

    SABiosciences Expression via Pathway-Focused 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
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QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CNTFR
QIAGEN 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)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for CNTFR gene from 5/11 species (see all 11)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Cntfr1 , 5 ciliary neurotrophic factor receptor1, 5 90.41(n)1
95.16(a)1
  4 (21.81 cM)5
128041  NM_001136056.21  NP_001129528.11 
 416574985 
chicken
(Gallus gallus)
Aves CNTFR1 ciliary neurotrophic factor receptor 72.66(n)
73.04(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 61.86(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)
About This Section
Paralogs for CNTFR gene
IL11RA2  ENSG000002587282  IL6R2  EBI32  

CNTFR for paralogs           About GeneDecksing



(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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/468 SNPs in CNTFR are shown (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

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

20/24 diseases for CNTFR (see all 24):    About MalaCards
cold-induced sweating syndrome    choroid cancer    leptin deficiency    eating disorder
cblc    choroiditis    anaplastic large cell lymphoma    myasthenia gravis
amyotrophic lateral sclerosis    lateral sclerosis    peripheral neuropathy    pituitary adenoma
leukemia    obesity    neuropathy    neuroblastoma
adenoma    neuronitis    myeloma    hepatitis b

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

CNTFR for disorders           About GeneDecksing

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)
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PubMed articles for CNTFR gene, integrated from 9 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. (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. (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. (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. (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. (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. (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. (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. (2009)
  9. 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. (2009)
  10. 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. (2008)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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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, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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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
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



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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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