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CNTFR - ciliary neurotrophic factor receptor Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1271

About CNTFR

Cytogenetic location: 9p13.3 Genomic coordinates (GRCh38): 9:34,551,433-34,590,852 (from NCBI)

This gene has 4 transcripts (splice variants), 201 orthologues and 23 paralogues. Biased expression in fat (RPKM 23.5), brain (RPKM 9.3) and 10 other tissues.

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 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]

CNTFR Products (3)

mRNA	Protein	Name
NM_001207011.2	NP_001193940.1	ciliary neurotrophic factor receptor subunit alpha preproprotein
NM_001842.5	NP_001833.1	ciliary neurotrophic factor receptor subunit alpha preproprotein
NM_147164.3	NP_671693.1	ciliary neurotrophic factor receptor subunit alpha preproprotein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
contributes to ciliary neurotrophic factor receptor activity	IDA IDA: Inferred from direct assay	12643274	GOA
enables cytokine binding	IPI IPI: Inferred from physical interaction	15272019	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	18775332	GOA
enables signaling receptor binding	IPI IPI: Inferred from physical interaction	12707266	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in ciliary neurotrophic factor-mediated signaling pathway	IDA IDA: Inferred from direct assay	12643274	GOA
involved in negative regulation of neuron apoptotic process	IMP IMP: Inferred from mutant phenotype	19386761	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of CNTFR-CLCF1 complex	IDA IDA: Inferred from direct assay	11285233	GOA
located in apical plasma membrane	IDA IDA: Inferred from direct assay	21912637	GOA
part of ciliary neurotrophic factor receptor complex	IDA IDA: Inferred from direct assay	12643274	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CNTFR Protein Structure

fn3

0
100
200
300
372 a.a.

Protein Preferred Names	Protein Names
ciliary neurotrophic factor receptor subunit alpha	CNTF receptor subunit alpha

CNTFR Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CNTFR	P26992	CNTF	Homo sapiens	P26441	ITC	18775332
Intra	CNTFR	P26992	CNTF	Homo sapiens	P26441	GMS	18775332
Intra	CNTFR	P26992	SORL1	Homo sapiens	Q92673	Confocal	26858303
Intra	CNTFR	P26992	SORL1	Homo sapiens	Q92673	Crosslink	26858303
Intra	CNTFR	P26992	SORL1	Homo sapiens	Q92673	Anti Tag CoIP	26858303
Intra	CNTFR	P26992	SORL1	Homo sapiens	Q92673	SPR	26858303
Intra	CNTFR	P26992	SORL1	Homo sapiens	Q92673	Anti Bait CoIP	26858303
Intra	CNTFR	P26992	Q9UBD9-PRO_0000015616	Homo sapiens	Q9UBD9-PRO_0000015616	SPR	26858303
Intra	CNTFR	P26992	Q9UBD9-PRO_0000015616	Homo sapiens	Q9UBD9-PRO_0000015616	Confocal	26858303

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant CNTFR Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76275	CNTFR alpha Protein, Human (sf9, His)	P26992 (Q23-P346)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Cold-Induced Sweating Syndrome	Crisponi Syndrome Sohar-Crisponi Syndrome Ciss Cntf Receptor-Related Disorders Muscle Contractions, Tetanoform, With Characteristic Face, Camptodactyly, Hyperthermia, And Sudden Death Sweating Syndrome, Cold-Induced
Crisponi/Cold-Induced Sweating Syndrome 1	Crisponi Syndrome Cold-Induced Sweating Syndrome 1 CISS1 Sohar-Crisponi Syndrome Muscle Contractions, Tetanoform, With Characteristic Face, Camptodactyly, Hyperthermia, And Sudden Death Muscle Contractions Tetanoform With Characteristic Face Camptodactyly Hyperthermia And Sudden Death
Crisponi/Cold-Induced Sweating Syndrome 2	Cold-Induced Sweating Syndrome 2 CISS2 Sweating Syndrome, Cold-Induced, Type 2
Hyper Ige Recurrent Infection Syndrome 4
Developmental And Epileptic Encephalopathy 11	Epileptic Encephalopathy, Early Infantile, 11 DEE11 Eiee11 Developmental And Epileptic Encephalopathy, 11 Early Infantile Epileptic Encephalopathy 11 Encephalopathy, Developmental And Epileptic, Type 11
Postsurgical Hypothyroidism	Postoperative Hypothyroidism Post-Surgical Hypothyroidism
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02924	CNTFR Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18513	Cntfr Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24995	Cntfr Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P991945	Anti-CNTFR Antibody		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	CNTFR	VGNC	VGNC:39430
Felis catus	CNTFR	VGNC	VGNC:61035
Macaca mulatta	CNTFR	VGNC	VGNC:71282
Rattus norvegicus	CNTFR	RGD	RGD:1303100
Mus musculus	CNTFR	MGD	MGI:99605
Bos taurus	CNTFR	VGNC	VGNC:27535
Others	CNTFR	NCBI