CNTFR - ciliary neurotrophic factor receptor Gene

Homo sapiens

Gene ID: 1271 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

Recombinant CNTFR Proteins

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02924	CNTFR Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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