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CNTF ciliary neurotrophic factor [ Homo sapiens (human) ]

Gene ID: 1270, updated on 11-Jul-2021

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
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
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Genomic context

See CNTF in Genome Data Viewer
Location:
11q12.1
Exon count:
2
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (58622665..58625733)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (58390138..58393206)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene leupaxin Neighboring gene ZFP91-CNTF readthrough (NMD candidate) Neighboring gene ZFP91 zinc finger protein, atypical E3 ubiquitin ligase Neighboring gene glycine-N-acyltransferase Neighboring gene glycine-N-acyltransferase pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Readthrough ZFP91-CNTF

Readthrough gene: ZFP91-CNTF, Included gene: ZFP91

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ciliary neurotrophic factor receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables cytokine activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables growth factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
involved_in ciliary neurotrophic factor-mediated signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 
involved_in positive regulation of cell population proliferation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
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 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
PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular region TAS
Traceable Author Statement
more info
 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in extracellular space IC
Inferred by Curator
more info
PubMed 

General protein information

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.

Genomic

  1. NG_008776.2 RefSeqGene

    Range
    4993..8061
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000614.4NP_000605.1  ciliary neurotrophic factor

    See identical proteins and their annotated locations for NP_000605.1

    Status: REVIEWED

    Source sequence(s)
    AP001350, BC068030, DB241497, DB341875
    Consensus CDS
    CCDS31554.1
    UniProtKB/Swiss-Prot
    P26441
    Related
    ENSP00000355370.4, ENST00000361987.6
    Conserved Domains (1) summary
    pfam01110
    Location:1187
    CNTF; Ciliary neurotrophic factor

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    58622665..58625733
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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