CNTF Gene (Protein Coding)

Ciliary Neurotrophic Factor

GC11P058622
GIFtS:
44
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 mutatio... See more...

Aliases for CNTF Gene

Aliases for CNTF Gene

  • Ciliary Neurotrophic Factor 2 3 4 5
  • HCNTF 3

External Ids for CNTF Gene

Previous GeneCards Identifiers for CNTF Gene

  • GC11P060741
  • GC11P059903
  • GC11P058641
  • GC11P058165
  • GC11P058146
  • GC11P058390
  • GC11P054738

Summaries for CNTF Gene

Entrez Gene Summary for CNTF Gene

  • 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]

GeneCards Summary for CNTF Gene

CNTF (Ciliary Neurotrophic Factor) is a Protein Coding gene. Diseases associated with CNTF include Motor Neuron Disease and Epilepsy, Familial Temporal Lobe, 2. Among its related pathways are Cytokine Signaling in Immune system and PEDF Induced Signaling. Gene Ontology (GO) annotations related to this gene include growth factor activity and ciliary neurotrophic factor receptor binding.

UniProtKB/Swiss-Prot Summary for CNTF Gene

  • CNTF is a survival factor for various neuronal cell types. Seems to prevent the degeneration of motor axons after axotomy.

Gene Wiki entry for CNTF Gene

Additional gene information for CNTF Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CNTF Gene

Genomics for CNTF Gene

GeneHancer (GH) Regulatory Elements for CNTF Gene

Promoters and enhancers for CNTF Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH11J058624 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 750.6 +4.6 4615 5.9 CTCF RAD21 MAFK IKZF1 POLR2A REST TRIM22 JUN ZNF316 JUND CNTF ENSG00000280010 lnc-CNTF-2 ZFP91 ENSG00000197254 LPXN ZFP91-CNTF ENSG00000254926 MPEG1
GH11J058625 Promoter/Enhancer 0.7 EPDnew Ensembl ENCODE 750.6 -0.9 -865 2 CNTF ENSG00000197254 ENSG00000254926 piR-45473 ZFP91 ZFP91-CNTF
GH11J058571 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.4 -45.2 -45164 11 SIN3A ZNF24 SP1 ZBTB40 CTCF SIX5 LCORL ZBTB6 FOXA1 RBPJ ZFP91 LPXN ZFP91-CNTF ENSG00000269570 ENSG00000255139 ENSG00000255008 FAM111A CLP1 CTNND1 ZDHHC5
GH11J058592 Enhancer 1 Ensembl ENCODE dbSUPER 12.1 -29.4 -29364 3.8 HLF SP1 PRDM1 RXRA JUND YY1 ZBTB33 GABPA ZFHX2 CEBPB CNTF ENSG00000197254 ENSG00000254926 LPXN ZFP91 ZFP91-CNTF ENSG00000269570
GH11J058654 Enhancer 0.9 Ensembl ENCODE 11.2 +31.7 31711 0.8 CTCF USF2 MYC CC2D1A MAX RAD21 MNT PPARG KAT8 ARID2 CNTF ENSG00000254926 ENSG00000280010 lnc-CNTF-2 ENSG00000197254 GLYAT
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CNTF on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CNTF gene promoter:
  • CREB
  • deltaCREB
  • MyoD
  • NF-kappaB1
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for CNTF Gene

Genomic Locations for CNTF Gene
chr11:58,622,665-58,625,733
(GRCh38/hg38)
Size:
3,069 bases
Orientation:
Plus strand
chr11:58,390,146-58,393,206
(GRCh37/hg19)
Size:
3,061 bases
Orientation:
Plus strand

Genomic View for CNTF Gene

Genes around CNTF on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CNTF Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CNTF Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CNTF Gene

Proteins for CNTF Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for CNTF Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P26441-CNTF_HUMAN
    Recommended name:
    Ciliary neurotrophic factor
    Protein Accession:
    P26441
    Secondary Accessions:
    • B2RAB2

    Protein attributes for CNTF Gene

    Size:
    200 amino acids
    Molecular mass:
    22931 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for CNTF Gene

neXtProt entry for CNTF Gene

Protein Expression for CNTF Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CNTF Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CNTF Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for CNTF

No data available for DME Specific Peptides for CNTF Gene

Domains & Families for CNTF Gene

Gene Families for CNTF Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CNTF Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CNTF Gene

GenScript: Design optimal peptide antigens:
  • Ciliary neurotrophic factor (CNTF_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P26441

UniProtKB/Swiss-Prot:

CNTF_HUMAN :
  • Belongs to the CNTF family.
Family:
  • Belongs to the CNTF family.
genes like me logo Genes that share domains with CNTF: view

Function for CNTF Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for CNTF Gene

UniProtKB/Swiss-Prot Function:
CNTF is a survival factor for various neuronal cell types. Seems to prevent the degeneration of motor axons after axotomy.
GENATLAS Biochemistry:
ciliary neurotrophic factor,interleukin-6 cytokine family member,cytosolic protein,expressed in myelinating Schwann cells and astrocyte subpopulation,involved in axon out growth in retinal ganglion cells and in the spinal cord,with decreased expression in the lateral corticospinal tract of amyotrophic lateral sclerosis (ALS)

LifeMap Function Summary for CNTF Gene

CNTF as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells:

Phenotypes From GWAS Catalog for CNTF Gene

Gene Ontology (GO) - Molecular Function for CNTF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005125 cytokine activity IBA 21873635
GO:0005127 ciliary neurotrophic factor receptor binding IBA 21873635
GO:0005138 interleukin-6 receptor binding IPI 12643274
GO:0005515 protein binding IPI 16051226
GO:0008083 growth factor activity IDA 12643274
genes like me logo Genes that share ontologies with CNTF: view
genes like me logo Genes that share phenotypes with CNTF: view

Animal Models for CNTF Gene

MGI Knock Outs for CNTF:
  • Cntf Cntf<tm1Vlcg>
  • Cntf Cntf<tm1Mpin>
  • Cntf Cntf<tm1Gdy>
  • Cntf Cntf<tm1Eas>
  • Cntf Cntf<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CNTF Gene

Localization for CNTF Gene

Subcellular locations from UniProtKB/Swiss-Prot for CNTF Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CNTF gene
Compartment Confidence
extracellular 4
cytoskeleton 2
nucleus 2
plasma membrane 1
mitochondrion 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CNTF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA,IC 12643274
GO:0005737 cytoplasm IEA --
GO:0030424 axon IBA 21873635
genes like me logo Genes that share ontologies with CNTF: view

Pathways & Interactions for CNTF Gene

genes like me logo Genes that share pathways with CNTF: view

Pathways by source for CNTF Gene

1 BioSystems pathway for CNTF Gene
1 GeneGo (Thomson Reuters) pathway for CNTF Gene
1 Qiagen pathway for CNTF Gene
  • CNTF Signaling

SIGNOR curated interactions for CNTF Gene

Activates:

Gene Ontology (GO) - Biological Process for CNTF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction NAS 1840538
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development IEA --
GO:0008284 positive regulation of cell proliferation IEA,IBA 21873635
GO:0010628 positive regulation of gene expression IDA 24129709
genes like me logo Genes that share ontologies with CNTF: view

Drugs & Compounds for CNTF Gene

Products:

  1. Drug

(32) Drugs for CNTF Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(27) Additional Compounds for CNTF Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CNTF: view

Transcripts for CNTF Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CNTF Gene

(1) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(493) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CNTF Gene

No ASD Table

Relevant External Links for CNTF Gene

GeneLoc Exon Structure for
CNTF
ECgene alternative splicing isoforms for
CNTF

Expression for CNTF Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CNTF Gene

mRNA expression in normal human tissues for CNTF Gene
mRNA expression by BioGPS for CNTF Gene

Protein differential expression in normal tissues from HIPED for CNTF Gene

This gene is overexpressed in Spinal cord (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CNTF Gene



Protein tissue co-expression partners for CNTF Gene

NURSA nuclear receptor signaling pathways regulating expression of CNTF Gene:

CNTF

SOURCE GeneReport for Unigene cluster for CNTF Gene:

Hs.524920

mRNA Expression by UniProt/SwissProt for CNTF Gene:

P26441-CNTF_HUMAN
Tissue specificity: Nervous system.

Evidence on tissue expression from TISSUES for CNTF Gene

  • Nervous system(4.9)
  • Lung(4.5)
  • Eye(3.6)
  • Muscle(2.4)
  • Adrenal gland(2.2)
  • Blood(2)
  • Bone marrow(2)
  • Kidney(2)
genes like me logo Genes that share expression patterns with CNTF: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CNTF Gene

Orthologs for CNTF Gene

This gene was present in the common ancestor of chordates.

Orthologs for CNTF Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia CNTF 33 32
  • 99.33 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia CNTF 33 32
  • 88.94 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Cntf 32
  • 85.17 (n)
mouse
(Mus musculus)
 Mammalia Cntf 17 33 32
  • 84.09 (n)
cow
(Bos Taurus)
 Mammalia CNTF 33 32
  • 76.72 (n)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia CNTF 33
  • 62 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves CNTF 33 32
  • 55.98 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia CNTF 33
  • 45 (a)
 OneToOne
Species where no ortholog for CNTF was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for CNTF Gene

ENSEMBL:
Gene Tree for CNTF (if available)
TreeFam:
Gene Tree for CNTF (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CNTF: view image

Paralogs for CNTF Gene

No data available for Paralogs for CNTF Gene

Variants for CNTF Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for CNTF Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1800169 benign, CILIARY NEUROTROPHIC FACTOR POLYMORPHISM 58,624,028(+) G/A intron_variant
rs1000069415 -- 58,622,037(+) G/A upstream_transcript_variant
rs1000789397 -- 58,622,934(+) G/A intron_variant
rs1001391032 -- 58,622,187(+) T/C upstream_transcript_variant
rs1001799970 -- 58,620,896(+) C/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for CNTF Gene

Variant ID Type Subtype PubMed ID
nsv1159883 CNV duplication 26073780

Variation tolerance for CNTF Gene

Residual Variation Intolerance Score: 86% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.17; 51.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CNTF Gene

Human Gene Mutation Database (HGMD)
CNTF
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CNTF

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CNTF Gene

Disorders for CNTF Gene

MalaCards: The human disease database

(21) MalaCards diseases for CNTF Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search CNTF in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CNTF

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CNTF: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CNTF Gene

Publications for CNTF Gene

  1. Sequence and structural organization of the human gene encoding ciliary neurotrophic factor. (PMID: 1840538) Lam A … Cordell B (Gene 1991) 2 3 4 23 56
  2. Sex-specific effects of CNTF, IL6 and UCP2 polymorphisms on weight gain. (PMID: 19833146) Heidema AG … Mariman EC (Physiology & behavior 2010) 3 23 43 56
  3. The relationship between ciliary neurotrophic factor (CNTF) genotype and motor unit physiology: preliminary studies. (PMID: 16181490) Conwit RA … Metter EJ (BMC physiology 2005) 3 23 43 56
  4. Association of a null mutation in the CNTF gene with early onset of multiple sclerosis. (PMID: 11890844) Giess R … Rieckmann P (Archives of neurology 2002) 3 23 43 56
  5. Recombinant human and rat ciliary neurotrophic factors. (PMID: 1861138) Masiakowski P … Panayotatos N (Journal of neurochemistry 1991) 3 4 23 56

ExternalLinks

View latest publications for CNTF gene in Mastermind

Products for CNTF Gene

Sources for CNTF Gene