1. Gene
  2. CNTFR - ciliary neurotrophic factor receptor Gene

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

CNTFR Protein Structure

fn3

fn3: Fibronectin type III domain (205 - 291)

  • 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

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