CNTFR ciliary neurotrophic factor receptor [Homo sapiens (human)] - Gene

Summary

Official Symbol: CNTFRprovided by HGNC
Official Full Name: ciliary neurotrophic factor receptorprovided by HGNC
Primary source: HGNC:HGNC:2170
See related: Ensembl:ENSG00000122756 MIM:118946; AllianceGenome:HGNC:2170
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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]
Expression: Biased expression in fat (RPKM 23.5), brain (RPKM 9.3) and 10 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9p13.3

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (34551433..34590852, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (34569984..34609005, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (34551431..34590157, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Ciliary neurotrophic factor (CNTF) and its receptor (CNTFRalpha) signal through MAPK/ERK pathway in human prostate tissues: a morphological and biomolecular study.
Title: Ciliary neurotrophic factor (CNTF) and its receptor (CNTFRα) signal through MAPK/ERK pathway in human prostate tissues: a morphological and biomolecular study.
Ciliary Neurotrophic Factor Receptor rs41274853 Polymorphism Is Associated With Weightlifting Performance in Japanese Weightlifters.
Title: Ciliary Neurotrophic Factor Receptor rs41274853 Polymorphism Is Associated With Weightlifting Performance in Japanese Weightlifters.
we nominate blockade of CLCF1-CNTFR signaling as a novel therapeutic opportunity for lung adenocarcinoma and potentially for other tumor types in which CLCF1 is present in the tumor microenvironment.
Title: Antitumor activity of an engineered decoy receptor targeting CLCF1-CNTFR signaling in lung adenocarcinoma.
miR-146a could promote the proliferation, migration, and invasion and inhibit the apoptosis of AL Jurkat and HL-60 cells by downregulating CNTFR and activating the JAK2/STAT3 pathway.
Title: microRNA-146a Promotes Growth of Acute Leukemia Cells by Downregulating Ciliary Neurotrophic Factor Receptor and Activating JAK2/STAT3 Signaling.
This study demonstrated that hypomethylation leading to CNTFRalpha up-regulation, together with autocrine expression of CNTF, was involved in glioma growth regulation.
Title: Hypomethylation of CNTFRα is associated with proliferation and poor prognosis in lower grade gliomas.
The family-based study showed no association between the CNTFR rs7036351, NET rs3785143 polymorphisms, and attention-deficit hyperactivity disorder.
Title: Family-based association study of ciliary neurotrophic factor receptor and norepinephrine transporter genes in attention-deficit hyperactivity disorder.
R28E mutation in CNTF abrogatesIL-6 receptor-dependent but retains CNTF receptor-dependent signaling via glycoprotein 130/ LIFR.
Title: The amino acid exchange R28E in ciliary neurotrophic factor (CNTF) abrogates interleukin-6 receptor-dependent but retains CNTF receptor-dependent signaling via glycoprotein 130 (gp130)/leukemia inhibitory factor receptor (LIFR).
gene expression and surface expression in NK92 cells of ciliary neurotrophic factor alpha (CNTFR-alpha) and glycoprotein (gp)130 in natural killer (NK) cells, in the context of malaria, were investigated.
Title: Expression of interleukin-6 family receptors in NK92 cells is regulated by cytokines and not through direct interaction with Plasmodium falciparum-infected erythrocytes.
Data indicate that CNTFRalpha plays a role in the formation or maintenance of tumor-initiating cells in gliomas, is a marker that correlates with histological grade, may underlie treatment resistance in some cases, and is a potential therapeutic target.
Title: CNTF receptor subunit α as a marker for glioma tumor-initiating cells and tumor grade: laboratory investigation.
expression of neurotrophin receptors Pan-Trk, p75 neurotrophin receptor (p75(NTR) and ciliary neurotrophic factor receptor-alpha in ulveal melanoma does not show a role in growth.
Title: Expression of neurotrophin receptors by retinoinvasive uveal melanoma.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-149348 (e-PCR)
- UniSTS:176950

RH102255 (e-PCR)
- UniSTS:96589

RH80199 (e-PCR)
- UniSTS:88448

CNTFR (e-PCR), detects polymorphism
- UniSTS:506038

D9S985E (e-PCR)
- UniSTS:151232

G59221 (e-PCR)
- UniSTS:136394

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to ciliary neurotrophic factor receptor activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to ciliary neurotrophic factor receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables cytokine binding	IBA Inferred from Biological aspect of Ancestor more info
enables cytokine binding	IPI Inferred from Physical Interaction more info	PubMed
enables cytokine receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in brainstem development	IEA Inferred from Electronic Annotation more info
involved_in ciliary neurotrophic factor-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in ciliary neurotrophic factor-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in motor neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of motor neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of neuron apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in sex differentiation	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	NAS Non-traceable Author Statement more info	PubMed
involved_in skeletal muscle organ development	IEA Inferred from Electronic Annotation more info
involved_in suckling behavior	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of CNTFR-CLCF1 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of CNTFR-CLCF1 complex	IDA Inferred from Direct Assay more info	PubMed
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
part_of ciliary neurotrophic factor receptor complex	IBA Inferred from Biological aspect of Ancestor more info
part_of ciliary neurotrophic factor receptor complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in external side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in extrinsic component of membrane	TAS Traceable Author Statement more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: ciliary neurotrophic factor receptor subunit alpha

Names: CNTF receptor subunit alpha; CNTFR-alpha

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_047044.1 RefSeqGene

Range

5417..43708

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001207011.2 → NP_001193940.1 ciliary neurotrophic factor receptor subunit alpha preproprotein

See identical proteins and their annotated locations for NP_001193940.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.

Source sequence(s)

AL160270, AL537375, BM714356, BT019824, BX364434

Consensus CDS

CCDS6558.1

UniProtKB/Swiss-Prot

P26992, Q5U050

UniProtKB/TrEMBL

A0A0A0N0N2

Related

ENSP00000480451.1, ENST00000610543.4

Conserved Domains (2) summary

smart00408
Location:39 → 96

IGc2; Immunoglobulin C-2 Type

cd00063
Location:204 → 300

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
NM_001842.5 → NP_001833.1 ciliary neurotrophic factor receptor subunit alpha preproprotein

See identical proteins and their annotated locations for NP_001833.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.

Source sequence(s)

BC001492, BI829871

Consensus CDS

CCDS6558.1

UniProtKB/Swiss-Prot

P26992, Q5U050

UniProtKB/TrEMBL

A0A0A0N0N2

Related

ENSP00000242338.4, ENST00000351266.8

Conserved Domains (2) summary

smart00408
Location:39 → 96

IGc2; Immunoglobulin C-2 Type

cd00063
Location:204 → 300

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
NM_147164.3 → NP_671693.1 ciliary neurotrophic factor receptor subunit alpha preproprotein

See identical proteins and their annotated locations for NP_671693.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.

Source sequence(s)

BI829871, BM714356, DB311865, M73238

Consensus CDS

CCDS6558.1

UniProtKB/Swiss-Prot

P26992, Q5U050

UniProtKB/TrEMBL

A0A0A0N0N2

Related

ENSP00000368265.3, ENST00000378980.8

Conserved Domains (2) summary

smart00408
Location:39 → 96

IGc2; Immunoglobulin C-2 Type

cd00063
Location:204 → 300

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

34551433..34590852 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047422756.1 → XP_047278712.1 ciliary neurotrophic factor receptor subunit alpha isoform X3
XM_047422755.1 → XP_047278711.1 ciliary neurotrophic factor receptor subunit alpha isoform X3
XM_017014263.2 → XP_016869752.1 ciliary neurotrophic factor receptor subunit alpha isoform X4

UniProtKB/Swiss-Prot

P26992, Q5U050

UniProtKB/TrEMBL

A0A0A0N0N2

Conserved Domains (2) summary

smart00408
Location:39 → 96

IGc2; Immunoglobulin C-2 Type

cd00063
Location:204 → 300

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
XM_017014265.2 → XP_016869754.1 ciliary neurotrophic factor receptor subunit alpha isoform X4

UniProtKB/Swiss-Prot

P26992, Q5U050

UniProtKB/TrEMBL

A0A0A0N0N2

Conserved Domains (2) summary

smart00408
Location:39 → 96

IGc2; Immunoglobulin C-2 Type

cd00063
Location:204 → 300

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
XM_017014261.2 → XP_016869750.1 ciliary neurotrophic factor receptor subunit alpha isoform X3

UniProtKB/TrEMBL

A0A0A0N0N2
XM_017014262.2 → XP_016869751.1 ciliary neurotrophic factor receptor subunit alpha isoform X3

UniProtKB/TrEMBL

A0A0A0N0N2
XM_047422758.1 → XP_047278714.1 ciliary neurotrophic factor receptor subunit alpha isoform X4

UniProtKB/Swiss-Prot

P26992, Q5U050
XM_017014260.2 → XP_016869749.1 ciliary neurotrophic factor receptor subunit alpha isoform X3

UniProtKB/TrEMBL

A0A0A0N0N2
XM_047422757.1 → XP_047278713.1 ciliary neurotrophic factor receptor subunit alpha isoform X4

UniProtKB/Swiss-Prot

P26992, Q5U050
XM_017014264.2 → XP_016869753.1 ciliary neurotrophic factor receptor subunit alpha isoform X4

UniProtKB/Swiss-Prot

P26992, Q5U050

UniProtKB/TrEMBL

A0A0A0N0N2

Conserved Domains (2) summary

smart00408
Location:39 → 96

IGc2; Immunoglobulin C-2 Type

cd00063
Location:204 → 300

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
XM_047422753.1 → XP_047278709.1 ciliary neurotrophic factor receptor subunit alpha isoform X1
XM_047422754.1 → XP_047278710.1 ciliary neurotrophic factor receptor subunit alpha isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060933.1 Alternate T2T-CHM13v2.0

Range

34569984..34609005 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054361957.1 → XP_054217932.1 ciliary neurotrophic factor receptor subunit alpha isoform X4

UniProtKB/Swiss-Prot

P26992, Q5U050
XM_054361959.1 → XP_054217934.1 ciliary neurotrophic factor receptor subunit alpha isoform X4

UniProtKB/Swiss-Prot

P26992, Q5U050
XM_054361955.1 → XP_054217930.1 ciliary neurotrophic factor receptor subunit alpha isoform X3
XM_054361956.1 → XP_054217931.1 ciliary neurotrophic factor receptor subunit alpha isoform X3
XM_054361961.1 → XP_054217936.1 ciliary neurotrophic factor receptor subunit alpha isoform X4

UniProtKB/Swiss-Prot

P26992, Q5U050
XM_054361954.1 → XP_054217929.1 ciliary neurotrophic factor receptor subunit alpha isoform X3
XM_054361958.1 → XP_054217933.1 ciliary neurotrophic factor receptor subunit alpha isoform X4

UniProtKB/Swiss-Prot

P26992, Q5U050
XM_054361960.1 → XP_054217935.1 ciliary neurotrophic factor receptor subunit alpha isoform X4

UniProtKB/Swiss-Prot

P26992, Q5U050
XM_054361952.1 → XP_054217927.1 ciliary neurotrophic factor receptor subunit alpha isoform X1
XM_054361953.1 → XP_054217928.1 ciliary neurotrophic factor receptor subunit alpha isoform X2