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

Summary

Official Symbol: CNTFprovided by HGNC
Official Full Name: ciliary neurotrophic factorprovided by HGNC
Primary source: HGNC:HGNC:2169
See related: Ensembl:ENSG00000242689 MIM:118945; AllianceGenome:HGNC:2169
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
Also known as: HCNTF
Summary: The protein encoded by this gene is a polypeptide hormone whose actions appear to be restricted to the nervous system where it promotes neurotransmitter synthesis and neurite outgrowth in certain neuronal populations. The protein is a potent survival factor for neurons and oligodendrocytes and may be relevant in reducing tissue destruction during inflammatory attacks. A mutation in this gene, which results in aberrant splicing, leads to ciliary neurotrophic factor deficiency, but this phenotype is not causally related to neurologic disease. A read-through transcript variant composed of the upstream ZFP91 gene and CNTF sequence has been identified, but it is thought to be non-coding. Read-through transcription of ZFP91 and CNTF has also been observed in mouse. [provided by RefSeq, Oct 2010]
Expression: Broad expression in bone marrow (RPKM 2.5), testis (RPKM 0.8) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q12.1

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (58622665..58625733)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (58572163..58575231)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (58390138..58393206)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

Breast cancer extracellular vesicles-derived miR-1290 activates astrocytes in the brain metastatic microenvironment via the FOXA2-->CNTF axis to promote progression of brain metastases.
Title: Breast cancer extracellular vesicles-derived miR-1290 activates astrocytes in the brain metastatic microenvironment via the FOXA2→CNTF axis to promote progression of brain metastases.
Ciliary neurotrophic factor is increased in the plasma of patients with obesity and its levels correlate with diabetes and inflammation indices.
Title: Ciliary neurotrophic factor is increased in the plasma of patients with obesity and its levels correlate with diabetes and inflammation indices.
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.
NGF and CNTF expression and regulation mechanism by miRNA in acute paralytic strabismus.
Title: NGF and CNTF expression and regulation mechanism by miRNA in acute paralytic strabismus.
Association between CNTF Polymorphisms and Adiposity Markers in European Adolescents.
Title: Association between CNTF Polymorphisms and Adiposity Markers in European Adolescents.
Increased CNTF levels in adults with autism spectrum disorders.
Title: Increased CNTF levels in adults with autism spectrum disorders.
identify a multimodal pathway that is rate-limited by CNTF volume transmission and poised to directly convert hypothalamic activation into long-lasting cortical excitability following acute stress.
Title: Hypothalamic CNTF volume transmission shapes cortical noradrenergic excitability upon acute stress.
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.
Our findings suggest that CNTF over-expression enhances the protective effects of bone marrow mesenchymal stem cells on retinal pigment epithelium cells, thus indicating subretinal-transplantation of CNTF-bone marrow mesenchymal stem cells may be a promising therapy for blue-light -injured retina
Title: Over-expression of CNTF in bone marrow mesenchymal stem cells protects RPE cells from short-wavelength, blue-light injury.
Cytokines of the LIF/CNTF family and metabolism
Title: Cytokines of the LIF/CNTF family and metabolism.

Submit: New GeneRIF Correction See all GeneRIFs (61)

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

EBI GWAS Catalog

Description
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

CNTF_1913 (e-PCR)
- UniSTS:280611

GDB:360980 (e-PCR)
- UniSTS:156721

CNTF (e-PCR)
- UniSTS:480060

ZFP91__4947 (e-PCR)
- UniSTS:468806

NoName (e-PCR)
- UniSTS:482132

NoName (e-PCR)
- UniSTS:481664

D11S4596 (e-PCR)
- UniSTS:8841

GDB:194646 (e-PCR)
- UniSTS:155794

D1S3694 (e-PCR)
- UniSTS:474272

WI-12111 (e-PCR)
- UniSTS:79284

Readthrough ZFP91-CNTF

Readthrough gene: ZFP91-CNTF, Included gene: ZFP91

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ciliary neurotrophic factor receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables cytokine activity	IBA Inferred from Biological aspect of Ancestor more info
enables growth factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables growth factor activity	IDA Inferred from Direct Assay more info	PubMed
enables interleukin-6 receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in astrocyte activation	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell surface receptor signaling pathway via JAK-STAT	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell surface receptor signaling pathway via STAT	IDA Inferred from Direct Assay more info	PubMed
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 muscle organ morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of neuron apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of neuron apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of photoreceptor cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in neuron development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of axon regeneration	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of tyrosine phosphorylation of STAT protein	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of retinal cell programmed cell death	IEA Inferred from Electronic Annotation more info
involved_in retinal rod cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in axon	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	IC Inferred by Curator more info	PubMed
is_active_in glial cell projection	IBA Inferred from Biological aspect of Ancestor more info
is_active_in neuronal cell body	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: ciliary neurotrophic factor

Names: Ciliary Neuronotrophic Factor

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.