Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CHD8 Gene

Aliases for CHD8 Gene

  • Chromodomain Helicase DNA Binding Protein 8 2 3 5
  • Helicase With SNF2 Domain 1 2 3 4
  • ATP-Dependent Helicase CHD8 3 4
  • HELSNF1 3 4
  • Chromodomain-Helicase-DNA-Binding Protein 8 3
  • Axis Duplication Inhibitor 3
  • EC 3.6.4.12 4
  • EC 3.6.1.7 61
  • KIAA1564 4
  • EC 3.6.1 61
  • AUTS18 3
  • Duplin 3
  • CHD-8 4

External Ids for CHD8 Gene

Previous HGNC Symbols for CHD8 Gene

  • HELSNF1

Previous GeneCards Identifiers for CHD8 Gene

  • GC14M019844
  • GC14M020923
  • GC14M021853
  • GC14M001973

Summaries for CHD8 Gene

Entrez Gene Summary for CHD8 Gene

  • This gene encodes a DNA helicase that functions as a transcription repressor by remodeling chromatin structure. It binds beta-catenin and negatively regulates Wnt signaling pathway, which plays a pivotal role in vertebrate early development and morphogenesis. Mice lacking this gene exhibit early embryonic death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]

GeneCards Summary for CHD8 Gene

CHD8 (Chromodomain Helicase DNA Binding Protein 8) is a Protein Coding gene. Diseases associated with CHD8 include Autism 18 and Charge Syndrome. Among its related pathways are Signaling by GPCR and Signaling by Wnt. GO annotations related to this gene include nucleic acid binding and hydrolase activity. An important paralog of this gene is CHD7.

UniProtKB/Swiss-Prot for CHD8 Gene

  • DNA helicase that acts as a chromatin remodeling factor and regulates transcription. Acts as a transcription repressor by remodeling chromatin structure and recruiting histone H1 to target genes. Suppresses p53/TP53-mediated apoptosis by recruiting histone H1 and preventing p53/TP53 transactivation activity. Acts as a negative regulator of Wnt signaling pathway by regulating beta-catenin (CTNNB1) activity. Negatively regulates CTNNB1-targeted gene expression by being recruited specifically to the promoter regions of several CTNNB1 responsive genes. Involved in both enhancer blocking and epigenetic remodeling at chromatin boundary via its interaction with CTCF. Acts as a suppressor of STAT3 activity by suppressing the LIF-induced STAT3 transcriptional activity. Also acts as a transcription activator via its interaction with ZNF143 by participating in efficient U6 RNA polymerase III transcription.

Gene Wiki entry for CHD8 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHD8 Gene

Genomics for CHD8 Gene

Regulatory Elements for CHD8 Gene

Enhancers for CHD8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around CHD8 on UCSC Golden Path with GeneCards custom track

Promoters for CHD8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CHD8 on UCSC Golden Path with GeneCards custom track

Genomic Location for CHD8 Gene

Chromosome:
14
Start:
21,385,194 bp from pter
End:
21,456,126 bp from pter
Size:
70,933 bases
Orientation:
Minus strand

Genomic View for CHD8 Gene

Genes around CHD8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHD8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHD8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHD8 Gene

Proteins for CHD8 Gene

  • Protein details for CHD8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HCK8-CHD8_HUMAN
    Recommended name:
    Chromodomain-helicase-DNA-binding protein 8
    Protein Accession:
    Q9HCK8
    Secondary Accessions:
    • Q4G0D8
    • Q68DQ0
    • Q6DKH9
    • Q6P440
    • Q6ZNL7
    • Q8N3Z9
    • Q8NCY4
    • Q8TBR9
    • Q96F26

    Protein attributes for CHD8 Gene

    Size:
    2581 amino acids
    Molecular mass:
    290519 Da
    Quaternary structure:
    • Interacts with p53/TP53, histone H1, CTNNB1, CTCF and PIAS3. Component of some MLL1/MLL complex, at least composed of the core components KMT2A/MLL1, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as well as the facultative components BAP18, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, KAT8/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. Interacts with CHD7.
    Miscellaneous:
    • Its gene is located in the 14q11.2 region of the genome which is associated with developmental delay, cognitive impairment and similar minor anomalies in some children, suggesting that it may be a good candidate for the phenotype.

    Three dimensional structures from OCA and Proteopedia for CHD8 Gene

    Alternative splice isoforms for CHD8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CHD8 Gene

Post-translational modifications for CHD8 Gene

Domains & Families for CHD8 Gene

Suggested Antigen Peptide Sequences for CHD8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9HCK8

UniProtKB/Swiss-Prot:

CHD8_HUMAN :
  • Contains 2 chromo domains.
  • Belongs to the SNF2/RAD54 helicase family. CHD8 subfamily.
Domain:
  • Contains 2 chromo domains.
  • Contains 1 helicase ATP-binding domain.
  • Contains 1 helicase C-terminal domain.
Family:
  • Belongs to the SNF2/RAD54 helicase family. CHD8 subfamily.
genes like me logo Genes that share domains with CHD8: view

No data available for Gene Families for CHD8 Gene

Function for CHD8 Gene

Molecular function for CHD8 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate.
UniProtKB/Swiss-Prot Function:
DNA helicase that acts as a chromatin remodeling factor and regulates transcription. Acts as a transcription repressor by remodeling chromatin structure and recruiting histone H1 to target genes. Suppresses p53/TP53-mediated apoptosis by recruiting histone H1 and preventing p53/TP53 transactivation activity. Acts as a negative regulator of Wnt signaling pathway by regulating beta-catenin (CTNNB1) activity. Negatively regulates CTNNB1-targeted gene expression by being recruited specifically to the promoter regions of several CTNNB1 responsive genes. Involved in both enhancer blocking and epigenetic remodeling at chromatin boundary via its interaction with CTCF. Acts as a suppressor of STAT3 activity by suppressing the LIF-induced STAT3 transcriptional activity. Also acts as a transcription activator via its interaction with ZNF143 by participating in efficient U6 RNA polymerase III transcription.

Enzyme Numbers (IUBMB) for CHD8 Gene

Gene Ontology (GO) - Molecular Function for CHD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002039 p53 binding IEA,ISS --
GO:0003677 DNA binding IEA,IMP 18378692
GO:0003678 DNA helicase activity IMP 18378692
GO:0003682 chromatin binding IDA 22083958
GO:0005515 protein binding IEA,IPI 15960975
genes like me logo Genes that share ontologies with CHD8: view
genes like me logo Genes that share phenotypes with CHD8: view

Animal Models for CHD8 Gene

MGI Knock Outs for CHD8:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CHD8 Gene

Localization for CHD8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHD8 Gene

Nucleus. Note=Localizes to the promoter regions of several CTNNB1-responsive genes. Also present at known CTCF target sites.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CHD8 Gene COMPARTMENTS Subcellular localization image for CHD8 gene
Compartment Confidence
nucleus 5
cytosol 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for CHD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 18378692
GO:0005654 nucleoplasm TAS --
GO:0043234 protein complex IEA,IDA 18378692
GO:0071339 MLL1 complex IDA 15960975
genes like me logo Genes that share ontologies with CHD8: view

Pathways & Interactions for CHD8 Gene

genes like me logo Genes that share pathways with CHD8: view

Pathways by source for CHD8 Gene

SIGNOR curated interactions for CHD8 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for CHD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IMP 25294932
GO:0001701 in utero embryonic development IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0007420 brain development IMP 24998929
GO:0016569 covalent chromatin modification IEA --
genes like me logo Genes that share ontologies with CHD8: view

Drugs & Compounds for CHD8 Gene

(3) Drugs for CHD8 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Adenosine triphosphate Approved Nutra 0

(1) Additional Compounds for CHD8 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with CHD8: view

Transcripts for CHD8 Gene

Unigene Clusters for CHD8 Gene

Chromodomain helicase DNA binding protein 8:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CHD8 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
SP1: -
SP2: - -
SP3:
SP4:
SP5:
SP6:
SP7:

ExUns: 24a · 24b · 24c ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31a · 31b · 31c ^ 32a · 32b ^ 33 ^ 34 ^ 35 ^ 36 ^ 37a · 37b ^ 38
SP1: - -
SP2: - -
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for CHD8 Gene

GeneLoc Exon Structure for
CHD8
ECgene alternative splicing isoforms for
CHD8

Expression for CHD8 Gene

mRNA expression in normal human tissues for CHD8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CHD8 Gene

This gene is overexpressed in Heart (32.1), Monocytes (7.9), and CD8 Tcells (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CHD8 Gene



Protein tissue co-expression partners for CHD8 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CHD8 Gene:

CHD8

SOURCE GeneReport for Unigene cluster for CHD8 Gene:

Hs.530698
genes like me logo Genes that share expression patterns with CHD8: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CHD8 Gene

Orthologs for CHD8 Gene

This gene was present in the common ancestor of animals.

Orthologs for CHD8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CHD8 35
  • 100 (a)
OneToOne
CHD8 34
  • 99.81 (n)
  • 99.92 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 83 (a)
OneToMany
-- 35
  • 99 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Chd8 35
  • 96 (a)
OneToOne
Chd8 16
Chd8 34
  • 90.6 (n)
  • 96.28 (a)
oppossum
(Monodelphis domestica)
Mammalia CHD8 35
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHD8 35
  • 98 (a)
OneToOne
CHD8 34
  • 93.93 (n)
  • 98.33 (a)
cow
(Bos Taurus)
Mammalia CHD8 35
  • 98 (a)
OneToOne
CHD8 34
  • 93.6 (n)
  • 98.44 (a)
rat
(Rattus norvegicus)
Mammalia Chd8 34
  • 90.56 (n)
  • 96.43 (a)
lizard
(Anolis carolinensis)
Reptilia CHD8 35
  • 77 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.32912 34
tropical clawed frog
(Silurana tropicalis)
Amphibia chd8 34
  • 69.18 (n)
  • 77.08 (a)
zebrafish
(Danio rerio)
Actinopterygii chd8 35
  • 61 (a)
OneToOne
chd8 34
  • 63.75 (n)
  • 66.78 (a)
fruit fly
(Drosophila melanogaster)
Insecta kis 35
  • 17 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea chd-7 35
  • 25 (a)
OneToMany
Species where no ortholog for CHD8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • 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)
  • 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)
  • wheat (Triticum aestivum)

Evolution for CHD8 Gene

ENSEMBL:
Gene Tree for CHD8 (if available)
TreeFam:
Gene Tree for CHD8 (if available)

Paralogs for CHD8 Gene

Paralogs for CHD8 Gene

genes like me logo Genes that share paralogs with CHD8: view

Variants for CHD8 Gene

Sequence variations from dbSNP and Humsavar for CHD8 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs7141803 -- 21,407,317(+) TGCCC(C/T)AGATC intron-variant
rs8022395 -- 21,403,494(+) CAGCG(C/T)ACCAT reference, synonymous-codon
rs8022558 -- 21,416,260(+) TTCCA(G/T)TTTTT intron-variant
rs8023081 -- 21,416,728(+) TTTAA(A/G)AAATC intron-variant
rs7147024 -- 21,407,328(+) TTTTG(C/T)TGATT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CHD8 Gene

Variant ID Type Subtype PubMed ID
esv1010334 CNV deletion 20482838
esv1687094 CNV deletion 17803354
esv2748456 CNV deletion 23290073
esv2748457 CNV deletion 23290073
esv2748458 CNV deletion 23290073
nsv1135808 CNV deletion 24896259
nsv1139884 CNV deletion 24896259
nsv1147677 CNV deletion 26484159

Variation tolerance for CHD8 Gene

Residual Variation Intolerance Score: 1.25% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.52; 82.32% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CHD8 Gene

Human Gene Mutation Database (HGMD)
CHD8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CHD8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHD8 Gene

Disorders for CHD8 Gene

MalaCards: The human disease database

(4) MalaCards diseases for CHD8 Gene - From: OMIM, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
autism 18
  • auts18
charge syndrome
  • charge association
pervasive developmental disorder
  • pervasive development disorder
autism spectrum disorder
  • pervasive development disorder
- elite association - COSMIC cancer census association via MalaCards
Search CHD8 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CHD8_HUMAN
  • Autism 18 (AUTS18) [MIM:615032]: A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation. {ECO:0000269 PubMed:23160955}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for CHD8

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CHD8
genes like me logo Genes that share disorders with CHD8: view

No data available for Genatlas for CHD8 Gene

Publications for CHD8 Gene

  1. CHD8 associates with human Staf and contributes to efficient U6 RNA polymerase III transcription. (PMID: 17938208) Yuan C.-C. … Hernandez N. (Mol. Cell. Biol. 2007) 3 4 22 65
  2. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10997877) Nagase T. … Ohara O. (DNA Res. 2000) 2 3 4 65
  3. Regulation of HOXA2 gene expression by the ATP-dependent chromatin remodeling enzyme CHD8. (PMID: 20085832) Yates J.A. … Bochar D.A. (FEBS Lett. 2010) 3 22 65
  4. Regulation of androgen-responsive transcription by the chromatin remodeling factor CHD8. (PMID: 20308527) Menon T. … Bochar D.A. (Mol. Endocrinol. 2010) 3 22 65
  5. CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome. (PMID: 20453063) Batsukh T. … Pauli S. (Hum. Mol. Genet. 2010) 3 4 65

Products for CHD8 Gene

Sources for CHD8 Gene

Content