• Gene id: 1271

Gene Summary

• Gene Symbol: CNTFR   Gene   UCSC   Ensembl
• Gene name: ciliary neurotrophic factor receptor
• Alternate names: ciliary neurotrophic factor receptor subunit alpha, CNTF receptor subunit alpha, CNTFR-alpha,
• Gene location: 9p13.3 (23532040: 23504779)     Exons: 10     NC_000007.14
• Gene summary(Entrez): 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 ge
• OMIM: 118946

Protein Summary

• Protein general information: P26992  
  • Name: Ciliary neurotrophic factor receptor subunit alpha (CNTF receptor subunit alpha) (CNTFR alpha)
  • Length: 372  
  • Mass: 40633
  • Tissue specificity: Nervous system and skeletal muscle.
• Sequence:

  MAAPVPWACCAVLAAAAAVVYAQRHSPQEAPHVQYERLGSDVTLPCGTANWDAAVTWRVNGTDLAPDLLNGSQLV
  LHGLELGHSGLYACFHRDSWHLRHQVLLHVGLPPREPVLSCRSNTYPKGFYCSWHLPTPTYIPNTFNVTVLHGSK
  IMVCEKDPALKNRCHIRYMHLFSTIKYKVSISVSNALGHNATAITFDEFTIVKPDPPENVVARPVPSNPRRLEVT
  WQTPSTWPDPESFPLKFFLRYRPLILDQWQHVELSDGTAHTITDAYAGKEYIIQVAAKDNEIGTWSDWSVAAHAT
  PWTEEPRHLTTEAQAAETTTSTTSSLAPPPTTKICDPGELGSGGGPSAPFLVSVPITLALAAAAATASSLLI

• Structural information:
  • Protein Domains: (27..10-)
    (/note="Ig-like-C2-type)
    (108..20-)
    1 (/note="Fibronectin-type-III)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00316-)
    (206..30-)
    2 (/note="Fibronectin-type-III)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00316"-)
  • Interpro: IPR003961  IPR036116  IPR003530  IPR007110  IPR036179   IPR013783  IPR003599  IPR003598  
  • Prosite: PS50853 PS01354 PS50835
  • CDD: cd00063
  • PDB: 1UC6
  • PDBsum: 1UC6
  • DIP: 5777
  • STRING: ENSP00000368265
• Other Databases: GeneCards:  CNTFR  Malacards:  CNTFR

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0019955	cytokine binding	IPI	molecular function
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0019221	cytokine-mediated signaling pathway	IBA	biological process
GO:0019955	cytokine binding	IBA	molecular function
GO:0043235	receptor complex	IBA	cellular component
GO:0004896	cytokine receptor activity	IBA	molecular function
GO:0004897	ciliary neurotrophic factor receptor activity	IBA	contributes to
GO:0009897	external side of plasma membrane	IBA	cellular component
GO:0070110	ciliary neurotrophic factor receptor complex	IBA	cellular component
GO:0070120	ciliary neurotrophic factor-mediated signaling pathway	IBA	biological process
GO:0097059	CNTFR-CLCF1 complex	IBA	cellular component
GO:0004896	cytokine receptor activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0031225	anchored component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0004897	ciliary neurotrophic factor receptor activity	TAS	molecular function
GO:0007399	nervous system development	TAS	biological process
GO:0007165	signal transduction	NAS	biological process
GO:0019898	extrinsic component of membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0019221	cytokine-mediated signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0070120	ciliary neurotrophic factor-mediated signaling pathway	IEA	biological process
GO:0060538	skeletal muscle organ development	IEA	biological process
GO:0043524	negative regulation of neuron apoptotic process	IEA	biological process
GO:0007548	sex differentiation	IEA	biological process
GO:0004897	ciliary neurotrophic factor receptor activity	IEA	molecular function
GO:0003360	brainstem development	IEA	biological process
GO:0001967	suckling behavior	IEA	biological process
GO:0070110	ciliary neurotrophic factor receptor complex	IDA	cellular component
GO:0004897	ciliary neurotrophic factor receptor activity	IDA	contributes to
GO:0005102	signaling receptor binding	IPI	molecular function
GO:0005102	signaling receptor binding	IPI	molecular function
GO:0070120	ciliary neurotrophic factor-mediated signaling pathway	IDA	biological process
GO:0097059	CNTFR-CLCF1 complex	IDA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04060	Cytokine-cytokine receptor interaction
hsa04630	JAK-STAT signaling pathway

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq