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CNTFR Gene

protein-coding   GIFtS: 62

GC09M034541
ciliary neurotrophic factor receptor
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Products    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases & Descriptions
ciliary neurotrophic factor receptor1 2     ciliary neurotrophic factor receptor alpha2
CNTFR-alpha2 3     ciliary neurotrophic factor receptor subunit alpha2
CNTF receptor subunit alpha2 3     OTTHUMP000000212722
MGC17742     CNTFR alpha2

External Ids:    HGNC: 21701   Entrez Gene: 12712   Ensembl: ENSG000001227567   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,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CNTFR:
This gene encodes a hematopoeitin/interferon-class receptor belonging to the cytokine superfamily of receptors. The
encoded gene product represents the CNTF-specific alpha subunit of a heterotrimer forming the CNTF receptor complex,
which also includes LIFR and gp130. The receptor is attached to the membrane by a glycosyl-phosphatidylinositol
linkage and contains an immunoglobulin-like C2-type domain and a fibronectin type-III domain. Signal transduction
requires that CNTF bind first to this alpha component, which permits the recruitment of gp130 and LIFR beta to form
the tripartite receptor complex. Signal transduction stimulates gene expression, cell survival or differentiation in a
variety of neuronal cell types. Alternative splicing has been observed at this locus and two variants, both encoding
the same protein, have been identified. (provided by RefSeq)

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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CNTFR gene promoter:
         STAT1alpha   STAT1beta   STAT1   STAT3   POU2F1   ATF-2   PPAR-gamma2   PPAR-gamma1   Oct-B1   POU2F2C   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for CNTFR

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for 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 gene densities for chromosome 9         GeneLoc Exon Structure

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

Start:
34,505,792 bp from pter
End:
34,540,343 bp from pter
Size:
34,552 bases
Orientation:
minus strand

1 alternative location:
Chr9- 34,551,430-34,590,121     
RefSeq DNA sequence:
NC_000009.11  NT_008413.18  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
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
PDB structures from and Proteopedia :
1UC6 (3D)    

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

REFSEQ proteins (2 alternative transcripts): 
NP_001833.1  NP_671693.1  


ENSEMBL proteins: 
ENSP00000242338 ENSP00000368265 ENSP00000388082 


Human Recombinant Proteins 
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich
R&D Systems Recombinant & Natural Proteins for CNTFR (CNTF R alpha)
Browse recombinant and purified proteins available from Enzo Life Sciences
Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
OriGene Protein Over-expression Lysate: CNTFR
GenScript Custom Purified and Recombinant Proteins Services for CNTFR 
Novus Biologicals Protein for CNTFR
Sino Biological Recombinant Protein for CNTFR
Browse ProSpec Recombinant Proteins

3 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005886 plasma membrane IEA--
GO:0019898 extrinsic to membrane TAS1648265
GO:0031225 anchored to membrane IEA--
About this table

CNTFR for ontologies           About GeneDecksing



Antibodies for CNTFR: 
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for CNTFR
R&D Systems Antibodies for CNTFR (CNTF R alpha)
OriGene Antibodies: CNTFR
GenScript Custom Superior Antibodies Services for CNTFR 
Novus Biologicals Antibodies for CNTFR
Browse antibodies at Epitomics

Assays for CNTFR: 
Browse Kits and Assays available from Millipore
Browse ELISAs at Sigma-Aldrich
OriGene Custom Immunoassay Development 
Browse OriGene Fluorogenic Cell Assay Kits 
Browse R&D Systems for biochemical assays
GenScript Custom Assay Services for CNTFR 
Browse Enzo Life Sciences for kits & assays
Uscn ELISAs and CLIAs for CNTFR 


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

CNTFR for domains           About GeneDecksing

5/6 InterPro domains/families (see all 6):
 IPR003598 Ig_sub2
 IPR008957 Fibronectin_III_dom
 IPR003961 FN_III
 IPR003530 Hematopoietin_rcpt_L_F3_CS
 IPR013783 Ig-like_fold

Graphical View of Domain Structure for InterPro Entry P26992

ProtoNet protein and cluster: P26992

2 Blocks protein families:
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


(According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
About This Section

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

Inhib.
RNA:
    
Browse for Gene Knock-down Tools from Millipore
Browse Nano Scale siRNA at Sigma-Aldrich
Sigma-Aldrich siRNA Panels and esiRNA and siRNA for CNTFR
Sigma-Aldrich shRNA Panels and shRNA for CNTFR
OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): CNTFR
OriGene shRNA RFP (see all 2): CNTFR
OriGene basic RS shRNA (see all 2): CNTFR
OriGene siRNA (see all 2): CNTFR
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of CNTFR 
miRNA:Sigma-Aldrich microRNA Mimics for CNTFR
Browse microRNA target validation systems at Sigma-Aldrich 
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of CNTFR 
5 SABiosciences Assays for microRNAs that regulate CNTFR:
hsa-miR-708 hsa-miR-19b hsa-miR-28-5p hsa-miR-589 hsa-miR-19a

Gene
Editing:
Browse CompoZr Knockout ZFN at Sigma-Aldrich 

Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
Browse iPSC Reprogramming Factors at Sigma-Aldrich
OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): CNTFR
OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): CNTFR
OriGene untagged cDNA clones in CMV expression vector (see all 2): CNTFR
OriGene 3'-UTR clone (see all 2): CNTFR 
Browse MicroRNA Expression Plasmids 
GenScript cDNA clones with any tag delivered in your preferred vector (see all 2): CNTFR 
Sino Biological Human cDNA Clone for CNTFR

Cell
Lines:
  
GenScript Custom overexpressing Cell Line Services for CNTFR 

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

5 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0004872 receptor activity IEA--
GO:0004897contributes to ciliary neurotrophic factor receptor activity IDA12643274
GO:0005102 receptor binding IPI12707266
GO:0005515 protein binding IPI17474147
GO:0019955 cytokine binding IPI15272019
About this table

CNTFR for ontologies           About GeneDecksing

Animal Models: 3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Cntfr):

behavior/neurologicallethality-prenatal/perinatalnervous system

CNTFR for phenotypes           About GeneDecksing


(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
About This Section


CNTFR for pathways           About GeneDecksing

1 Millipore Pathway for CNTFR
    Development CNTF receptor signaling

1 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathway for  CNTFR
    CNTF Signaling

2 Kegg Pathways  (Kegg details for CNTFR):
    hsa04060 Cytokine-cytokine receptor interaction
hsa04630 Jak-STAT signaling pathway

    SABiosciences Pathway-Focused PCR Arrays including CNTFR (see all 4): PAHS-017A PAHS-031A  

    Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for CNTFR
    SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CNTFR

5/23 Interacting proteins for CNTFR (ENSP000002423383 P269921, 2) via UniProtKB, MINT, and/or STRING (see all 23)
InteractantInteraction Details
GeneCardExternal ID(s)
ABL1P005191, 2EBI-743758,EBI-375543 MINT-7244074
CRKP461081, 2EBI-743758,EBI-886 MINT-7255269
FYNP062411, 2EBI-743758,EBI-515315 MINT-7246462
NCK1P163331, 2EBI-743758,EBI-389883 MINT-7248850
GRB2P629931EBI-743758,EBI-401755
About this table

4 Gene Ontology (GO) biological process terms (GO ID links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0007165 signal transduction NAS1648265
GO:0007399 nervous system development TAS7585948
GO:0008284 positive regulation of cell proliferation IEA--
GO:0070120 ciliary neurotrophic factor-mediated signaling pathway IDA12643274
About this table

CNTFR for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

CNTFR for compounds           About GeneDecksing

Browse Small Molecules at Sigma-Aldrich
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CNTFR
4 Novoseek chemical compound relationships for CNTFR gene
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)
About this table



(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Millipore,
siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
About This Section

Inhib.
RNA:
     
Browse for Gene Knock-down Tools from Millipore
Browse Nano Scale siRNA at Sigma-Aldrich
Sigma-Aldrich siRNA Panels and esiRNA and siRNA for CNTFR
Sigma-Aldrich shRNA Panels and shRNA for CNTFR
OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): CNTFR
OriGene shRNA RFP (see all 2): CNTFR
OriGene basic RS shRNA (see all 2): CNTFR
OriGene siRNA (see all 2): CNTFR
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of CNTFR 
miRNA: Sigma-Aldrich microRNA Mimics for CNTFR
Browse microRNA target validation systems at Sigma-Aldrich 
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of CNTFR 
5 SABiosciences Assays for microRNAs that regulate CNTFR:
hsa-miR-708 hsa-miR-19b hsa-miR-28-5p hsa-miR-589 hsa-miR-19a
Clones: Browse FLAG tag genes at Sigma-Aldrich
OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): CNTFR
OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): CNTFR
OriGene untagged cDNA clones in CMV expression vector (see all 2): CNTFR
OriGene 3'-UTR Clone (see all 2): CNTFR 
Browse OriGene MicroRNA Expression Plasmids 
GenScript cDNA clones with any tag delivered in your preferred vector (see all 2): CNTFR 
Primers: OriGene genome-wide validated SYBR primer pairs: CNTFR
Browse OriGene validated miRNA SYBR primer pairs 
SABiosciences RT2 qPCR Primer Assay for CNTFR: PPH00866A

REFSEQ mRNAs for CNTFR gene (2 alternative transcripts): 

NM_001842.3  NM_147164.1  

Additional cDNA sequence: 

AK127444.1 BC001492.2 BT019824.1 CR610538.1 CR615036.1 CR615362.1 CR621924.1 CR624688.1 
M73238.1 

4 DOTS entries:

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

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

BM714356 BX364435 NM_001842 M73238 CR624688 BC001492 AW950312 BX366394 
F00357 AI934646 CR615036 AK127444 CR610538 NM_147164 BM710190 CR615362 
BM719097 BG059668 BI917291 BX428112 AI039219 F16937 BX428111 BF315347 

highest scoring ESTs for CNTFR:

M73238 AL528607 AL538308 BC001492 BE262541 BF311347 BF312992 BF315347 BG519609 BG911153 

Unigene Cluster for CNTFR:

Ciliary neurotrophic factor receptor
Hs.129966  [show with all ESTs]
Unigene Representative Sequence: AK127444


GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for CNTFR (see all 6)

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

About this scheme

ECgene alternative splicing isoforms for CNTFR
3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000351266 ENST00000378980(uc003zup.1 uc003zuq.1) ENST00000417345


(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Primers from OriGene and/or SABiosciences )
About This Section

CNTFR expression in normal and diseased human tissues

1  / 2  / 3

4 probe-sets matching CNTFR gene

Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
32366_at2, 3 U95-A 1 0.81 1.00 0.37 0.50 M73238 1.00 1.00 1.00 1
88926_at2, 3 U95-E 1 0.75 1.00 0.80 1.54 AA029437 0.40 1.00 0.76 1
205723_at2, 3 U133-A 1 0.82 1.00 -- -- NM_001842 0.60 1.00 0.82 1
205723_at2 U133Plus2 1 0.82 1.00 -- -- -- -- -- -- --
About this table

CNTFR for expression           About GeneDecksing

Data from Genenote  (Publications) and GNF BioGPS
    About these images
CNTFR gene expression
CNTFR gene electronic northern expression
CNTFR gene sage expression
About these images

CGAP SAGE TAG: CAGCTAACCC

SOURCE GeneReport for Unigene cluster: Hs.129966

Expression variation in blood from EXPOLDB for CNTFR

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

Primers: OriGene genome-wide validated SYBR primer pairs: CNTFR
Browse OriGene validated miRNA SYBR primer pairs 
SABiosciences RT2 qPCR Primer Assay for CNTFR: PPH00866A
    SABiosciences Expression via Pathway-Focused PCR Arrays including CNTFR (see all 4): PAHS-017A PAHS-031A  


(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for CNTFR gene from 5/7 species (see all 7)
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
CNTFR1   -- ciliary neurotrophic factor receptor 93.01(n)
97.85(a)
442941  NM_001003353.1  NP_001003353.1 
cow
(Bos taurus)
CNTFR1   -- ciliary neurotrophic factor receptor 91.49(n)
95.97(a)
539548  XM_876020.2  XP_881113.1 
rat
(Rattus norvegicus)
Cntfr1   -- ciliary neurotrophic factor receptor 89.07(n)
94.09(a)
313173  NM_001003929.1  NP_001003929.1 
mouse
(Mus musculus)
Cntfr1 , 5 4 (21.81 cM)5
ciliary neurotrophic factor receptor1, 5 90.32(n)1
94.89(a)1
128041  NM_016673.11  NP_057882.11 
 AB1542465  AF0686155  (see all 11)
chicken
(Gallus gallus)
CNTFR1   -- ciliary neurotrophic factor receptor 72.66(n)
73.04(a)
395885  NM_205028.1  NP_990359.1 
About this table        Species with no ortholog for CNTFR

ENSEMBL Gene Tree for CNTFR (if available)

(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
Paralogs for CNTFR gene
IL11RA2  IL6R2  EBI32  

CNTFR for paralogs           About GeneDecksing



(SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section

10/380 NCBI SNPs in CNTFR are shown (see all 380)
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidChr 9 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
----------
rs10553471,2
C,F,34570990(+) CCCCTC/TCCTGG 2 -- int12Minor allele frequency- T:0.45NA EA 160
rs10754301,2
H34564039(+) TACGGT/GCACAC 2 -- int14Minor allele frequency- G:0.00NS EA 416
rs10779611,2
C,F,34554716(-) TTCAGG/AAGGAA 2 -- int1 trp32Minor allele frequency- A:0.08NA WA 122
rs10779621,2
C,F,34554634(-) AGTACT/CGGGAC 2 -- int16Minor allele frequency- C:0.07NS EA NA 492
rs10807501,2
C,F,A,34581525(-) GTGAGA/GATGCA 2 -- int1102Minor allele frequency- T:0.01NA NS EA PA EU CA WA 6160
rs11110701,2
C,F,H,34554353(+) TTGCCG/ACCTCA 2 -- int111Minor allele frequency- A:0.02NS EA NA WA 434
rs11248821,2
C,F,O,34554227(-) GGTATC/GTTTGC 2 -- int113Minor allele frequency- G:0.07NA NS EA 1172
rs15569851,2
C,F,H,34569699(+) TTTTCC/TGTAAT 2 -- int114Minor allele frequency- T:0.16NS EA NA WA 1030
rs15714011,2
C,F,A,34572815(+) TGACAC/TCAACA 2 -- int16Minor allele frequency- T:0.20NS EA NA WA 422
rs15714021,2
C,F,A,H,34572825(+) AAACGC/GGGCAA 2 -- int115Minor allele frequency- G:0.15NS EA NA WA 620
About this table

HapMap Linkage Disequilibrium images for CNTFR (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for CNTFR
     1 CNV: 9615

QIAGEN SeqTarget long-range PCR primers for resequencing CNTFR 

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CNTFR for disorders           About GeneDecksing

OMIM: 118946

5 Novoseek disease relationships for CNTFR gene

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)
About this table

Genetic Association Database (GAD): CNTFR
Human Genome Epidemiology (HuGE) Navigator: CNTFR (10 documents)

Export disorders and mutations for CNTFR gene to outside databases

(Possibly Related Articles in Doctor's Guide)
About This Section
  --

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

10/92 PubMed articles for CNTFR gene, integrated from 7 sources (see all 92):
(articles sorted by number of sources associating them with CNTFR)
  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, 7 Man D.... Ip N.Y. (2003)
  3. C174T polymorphism in the CNTF receptor gene is associated with fat-free mass in men and women. (PubMed id 12807897)1, 4, 7 Roth S.M....Ferrell R.E. (2003)
  4. 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, 7 Valenzuela D.M....Yancopoulos G.D. (1995)
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
  6. Signaling pathways recruited by the cardiotrophin-like cytokine/cytokine-like factor-1 composite cytokine: specific requirement of the membrane-bound form of ciliary neurotrophic factor receptor alpha component. (PubMed id 11294841)1, 7 Lelievre E....Gascan H. (2001)
  7. Localization of the gene for the ciliary neurotrophic factor receptor (CNTFR) to human chromosome 9. (PubMed id 8244400)1, 7 Donaldson D.H....Patterson D. (1993)
  8. Humanin inhibits neuronal cell death by interacting w ith a cytokine receptor complex or complexes involving CNTF receptor alpha/WSX- 1/gp130. (PubMed id 19386761)1, 7 Hashimoto Y....Matsuoka M. (2009)
  9. Membrane distal cytokine binding domain of LIFR interacts with soluble CNTFR in vitro. (PubMed id 11943154)1, 7 He W....Ip N.Y. (2002)
  10. Polymorphisms in the CNTF and CNTF receptor genes are associated with muscle strength in men and women. (PubMed id 17272411)1, 7 De Mars G....Thomis M.A. (2007)

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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 ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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