Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1271
Gene name	Ciliary neurotrophic factor receptor
Gene symbol	CNTFR
Synonyms (NCBI Gene)	-
Chromosome	9
Chromosome location	9p13.3
Summary	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

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miRTarBase ID	miRNA	Experiments	Reference
MIRT029854	hsa-miR-26b-5p	Microarray	19088304
MIRT438715	hsa-miR-708-5p	Luciferase reporter assayqRT-PCRWestern blot	23970374
MIRT438715	hsa-miR-708-5p	Luciferase reporter assayqRT-PCRWestern blot	23970374
MIRT901530	hsa-miR-2467-3p	CLIP-seq
MIRT901531	hsa-miR-3154	CLIP-seq
MIRT901532	hsa-miR-3199	CLIP-seq
MIRT901533	hsa-miR-3647-3p	CLIP-seq
MIRT901534	hsa-miR-3660	CLIP-seq
MIRT901535	hsa-miR-3688-5p	CLIP-seq
MIRT901536	hsa-miR-4292	CLIP-seq
MIRT901537	hsa-miR-4436b-3p	CLIP-seq
MIRT901538	hsa-miR-4475	CLIP-seq
MIRT901539	hsa-miR-4494	CLIP-seq
MIRT901540	hsa-miR-4513	CLIP-seq
MIRT901541	hsa-miR-4525	CLIP-seq
MIRT901542	hsa-miR-4526	CLIP-seq
MIRT901543	hsa-miR-4652-5p	CLIP-seq
MIRT901544	hsa-miR-4716-3p	CLIP-seq
MIRT901545	hsa-miR-4723-5p	CLIP-seq
MIRT901546	hsa-miR-4725-5p	CLIP-seq
MIRT901547	hsa-miR-4728-5p	CLIP-seq
MIRT901548	hsa-miR-4731-5p	CLIP-seq
MIRT901549	hsa-miR-4740-5p	CLIP-seq
MIRT901550	hsa-miR-4761-3p	CLIP-seq
MIRT901551	hsa-miR-499a-5p	CLIP-seq
MIRT901552	hsa-miR-504	CLIP-seq
MIRT901553	hsa-miR-637	CLIP-seq
MIRT901554	hsa-miR-1207-5p	CLIP-seq
MIRT901555	hsa-miR-3180	CLIP-seq
MIRT901556	hsa-miR-3180-3p	CLIP-seq
MIRT901557	hsa-miR-3196	CLIP-seq
MIRT901532	hsa-miR-3199	CLIP-seq
MIRT901533	hsa-miR-3647-3p	CLIP-seq
MIRT901558	hsa-miR-4446-3p	CLIP-seq
MIRT901559	hsa-miR-4466	CLIP-seq
MIRT901560	hsa-miR-4488	CLIP-seq
MIRT901561	hsa-miR-4492	CLIP-seq
MIRT901562	hsa-miR-4498	CLIP-seq
MIRT901563	hsa-miR-4505	CLIP-seq
MIRT901543	hsa-miR-4652-5p	CLIP-seq
MIRT901564	hsa-miR-4697-5p	CLIP-seq
MIRT901547	hsa-miR-4728-5p	CLIP-seq
MIRT901548	hsa-miR-4731-5p	CLIP-seq
MIRT901549	hsa-miR-4740-5p	CLIP-seq
MIRT901565	hsa-miR-4763-3p	CLIP-seq
MIRT901553	hsa-miR-637	CLIP-seq
MIRT901566	hsa-miR-675	CLIP-seq
MIRT901567	hsa-miR-762	CLIP-seq
MIRT901530	hsa-miR-2467-3p	CLIP-seq
MIRT901532	hsa-miR-3199	CLIP-seq
MIRT901533	hsa-miR-3647-3p	CLIP-seq
MIRT901543	hsa-miR-4652-5p	CLIP-seq
MIRT901547	hsa-miR-4728-5p	CLIP-seq
MIRT901549	hsa-miR-4740-5p	CLIP-seq
MIRT901531	hsa-miR-3154	CLIP-seq
MIRT901532	hsa-miR-3199	CLIP-seq
MIRT901534	hsa-miR-3660	CLIP-seq
MIRT901538	hsa-miR-4475	CLIP-seq
MIRT901539	hsa-miR-4494	CLIP-seq
MIRT901540	hsa-miR-4513	CLIP-seq
MIRT901542	hsa-miR-4526	CLIP-seq
MIRT901549	hsa-miR-4740-5p	CLIP-seq
MIRT901550	hsa-miR-4761-3p	CLIP-seq
MIRT901551	hsa-miR-499a-5p	CLIP-seq
MIRT1967448	hsa-miR-1184	CLIP-seq
MIRT1967449	hsa-miR-1205	CLIP-seq
MIRT901530	hsa-miR-2467-3p	CLIP-seq
MIRT1967450	hsa-miR-3158-5p	CLIP-seq
MIRT1967451	hsa-miR-3909	CLIP-seq
MIRT901537	hsa-miR-4436b-3p	CLIP-seq
MIRT2203129	hsa-miR-28-5p	CLIP-seq
MIRT2203130	hsa-miR-3139	CLIP-seq
MIRT2203131	hsa-miR-708	CLIP-seq
MIRT901530	hsa-miR-2467-3p	CLIP-seq
MIRT901532	hsa-miR-3199	CLIP-seq
MIRT901533	hsa-miR-3647-3p	CLIP-seq
MIRT901537	hsa-miR-4436b-3p	CLIP-seq
MIRT901543	hsa-miR-4652-5p	CLIP-seq
MIRT901547	hsa-miR-4728-5p	CLIP-seq
MIRT901549	hsa-miR-4740-5p	CLIP-seq
MIRT901530	hsa-miR-2467-3p	CLIP-seq
MIRT901532	hsa-miR-3199	CLIP-seq
MIRT901533	hsa-miR-3647-3p	CLIP-seq
MIRT901537	hsa-miR-4436b-3p	CLIP-seq
MIRT901543	hsa-miR-4652-5p	CLIP-seq
MIRT901547	hsa-miR-4728-5p	CLIP-seq
MIRT901549	hsa-miR-4740-5p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001967	Process	Suckling behavior	IEA
GO:0003360	Process	Brainstem development	IEA
GO:0004896	Function	Cytokine receptor activity	IEA
GO:0004897	Function	Ciliary neurotrophic factor receptor activity	IBA
GO:0004897	Function	Ciliary neurotrophic factor receptor activity	IDA	12643274
GO:0004897	Function	Ciliary neurotrophic factor receptor activity	IEA
GO:0004897	Function	Ciliary neurotrophic factor receptor activity	TAS	7585948
GO:0004921	Function	Interleukin-11 receptor activity	IBA
GO:0005102	Function	Signaling receptor binding	IPI	12707266
GO:0005515	Function	Protein binding	IPI	18775332, 19386761, 20584990, 26858303
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007165	Process	Signal transduction	NAS	1648265
GO:0007399	Process	Nervous system development	TAS	7585948
GO:0007548	Process	Sex differentiation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IBA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0009897	Component	External side of plasma membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IDA	21912637
GO:0019898	Component	Extrinsic component of membrane	TAS	1648265
GO:0019955	Function	Cytokine binding	IPI	15272019
GO:0019970	Function	Interleukin-11 binding	IBA
GO:0038154	Process	Interleukin-11-mediated signaling pathway	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	IMP	19386761
GO:0060538	Process	Skeletal muscle organ development	IEA
GO:0070110	Component	Ciliary neurotrophic factor receptor complex	IBA
GO:0070110	Component	Ciliary neurotrophic factor receptor complex	IDA	12643274
GO:0070120	Process	Ciliary neurotrophic factor-mediated signaling pathway	IBA
GO:0070120	Process	Ciliary neurotrophic factor-mediated signaling pathway	IDA	12643274
GO:0070120	Process	Ciliary neurotrophic factor-mediated signaling pathway	IEA
GO:0097049	Process	Motor neuron apoptotic process	IEA
GO:0097059	Component	CNTFR-CLCF1 complex	IBA
GO:0097059	Component	CNTFR-CLCF1 complex	IDA	11285233
GO:0098552	Component	Side of membrane	IEA
GO:2000672	Process	Negative regulation of motor neuron apoptotic process	IEA

MIM	HGNC	e!Ensembl
118946	2170	ENSG00000122756

P26992

Protein name

Ciliary neurotrophic factor receptor subunit alpha (CNTF receptor subunit alpha) (CNTFR-alpha)

Protein function

Binds to CNTF. The alpha subunit provides the receptor specificity. Receptor for heterodimeric neurotropic cytokine composed of CLCF1/CLC and CRLF1/CLF-1 (PubMed:26858303). Acts as a receptor for the neuroprotective peptide humanin as part of a

PDB

1UC6 , 8D74 , 8D7E , 8D7H , 8D7R

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00041	fn3	205 → 294	Fibronectin type III domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Nervous system and skeletal muscle.

Sequence

MAAPVPWACCAVLAAAAAVVYAQRHSPQEAPHVQYERLGSDVTLPCGTANWDAAVTWRVN
GTDLAPDLLNGSQLVLHGLELGHSGLYACFHRDSWHLRHQVLLHVGLPPREPVLSCRSNT
YPKGFYCSWHLPTPTYIPNTFNVTVLHGSKIMVCEKDPALKNRCHIRYMHLFSTIKYKVS
ISVSNALGHNATAITFDEFTIVKPDPPENVVARPVPSNPRRLEVTWQTPSTWPDPESFPL
KFFLRYRPLILDQWQHVELSDGTAHTITDAYAGKEYIIQVAAKDNEIGTWSDWSVAAHAT
PWTEEPRHLTTEAQAAETTTSTTSSLAPPPTTKICDPGELGSGGGPSAPFLVSVPITLAL
AAAAATASSLLI

Sequence length

372

Interactions

View interactions

	KEGG		Reactome
	Cytokine-cytokine receptor interaction JAK-STAT signaling pathway		IL-6-type cytokine receptor ligand interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
OSTEOARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (20)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	31538427		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	31700175		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	31538427		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	8244400		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	18179783		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	32190687	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	31538427		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	31538427		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crisponi syndrome	Crisponi Syndrome	BEFREE	16782820, 17436251		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crisponi syndrome	Crisponi syndrome	Pubtator	17436251	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Eating Disorders	Eating Disorders	BEFREE	20219210		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	23061382, 28765641		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	33600668	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	31538427	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	31538427		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	11694333		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23061382, 31700175		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	19503088		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid cancer medullary	Medullary thyroid cancer	Pubtator	35280443	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	32190687	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

CNTFR (ciliary neurotrophic factor receptor)