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
  • Helicase With SNF2 Domain 1 2 3 4
  • ATP-Dependent Helicase CHD8 3 4
  • KIAA1564 4 6
  • HELSNF1 3 4
  • Duplin 3 6
  • AUTS18 3 6
  • Chromodomain-Helicase-DNA-Binding Protein 8 3
  • Axis Duplication Inhibitor 3
  • EC 3.6.4.12 4
  • EC 3.6.1.7 64
  • EC 3.6.1 64
  • CHD-8 4

External Ids for CHD8 Gene

Previous Symbols for CHD8 Gene

  • HELSNF1

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 Regulation of Wnt-mediated beta catenin signaling and target gene transcription and Chromatin Regulation / Acetylation. GO annotations related to this gene include histone binding and p53 binding. An important paralog of this gene is CHD1.

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

Genomic Location for CHD8 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CHD8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHD8 Gene

Regulatory Elements 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

Proteomics data for CHD8 Gene at MOPED

Post-translational modifications for CHD8 Gene

Domains for CHD8 Gene

UniProtKB/Swiss-Prot:

CHD8_HUMAN
Domain:
  • Contains 2 chromo domains.:
    • Q9HCK8
  • Contains 1 helicase ATP-binding domain.:
    • Q9HCK8
  • Contains 1 helicase C-terminal domain.:
    • Q9HCK8
Family:
  • Belongs to the SNF2/RAD54 helicase family. CHD8 subfamily.:
    • Q9HCK8
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 ISS --
GO:0003676 nucleic acid binding --
GO:0003677 DNA binding IMP 18378692
GO:0003678 DNA helicase activity IMP 18378692
GO:0003682 chromatin binding IDA 22083958
genes like me logo Genes that share ontologies with CHD8: view

Phenotypes for CHD8 Gene

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

Animal Models for CHD8 Gene

MGI Knock Outs for CHD8:

No data available for Transcription Factor Targeting 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 IDA 18378692
GO:0005654 nucleoplasm TAS --
GO:0043234 protein complex IDA 18378692
GO:0071339 MLL1 complex IDA 15960975
genes like me logo Genes that share ontologies with CHD8: view

Pathways for CHD8 Gene

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

Pathways by source for CHD8 Gene

1 Cell Signaling Technology pathway for CHD8 Gene
1 KEGG pathway for CHD8 Gene

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:0006200 obsolete ATP catabolic process --
GO:0006351 transcription, DNA-templated IEA --
GO:0007420 brain development IMP 24998929
genes like me logo Genes that share ontologies with CHD8: view

Transcripts for CHD8 Gene

Unigene Clusters for CHD8 Gene

Chromodomain helicase DNA binding protein 8:
Representative Sequences:

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

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CHD8 Gene

SOURCE GeneReport for Unigene cluster for CHD8 Gene Hs.530698

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

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 36
  • 99.81 (n)
  • 99.92 (a)
CHD8 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CHD8 36
  • 93.6 (n)
  • 98.44 (a)
CHD8 37
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHD8 36
  • 93.93 (n)
  • 98.33 (a)
CHD8 37
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chd8 36
  • 90.6 (n)
  • 96.28 (a)
Chd8 16
Chd8 37
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CHD8 37
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 99 (a)
OneToMany
-- 37
  • 83 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Chd8 36
  • 90.56 (n)
  • 96.43 (a)
lizard
(Anolis carolinensis)
Reptilia CHD8 37
  • 77 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.32912 36
tropical clawed frog
(Silurana tropicalis)
Amphibia chd8 36
  • 69.18 (n)
  • 77.08 (a)
zebrafish
(Danio rerio)
Actinopterygii chd8 36
  • 63.75 (n)
  • 66.78 (a)
chd8 37
  • 61 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta kis 37
  • 17 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea chd-7 37
  • 25 (a)
OneToMany
Species with no ortholog for CHD8:
  • 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

Selected SIMAP similar genes for CHD8 Gene using alignment to 6 proteins:

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 MAF
rs1952554 -- 21,395,557(+) ATTAA(C/T)GACTC intron-variant
rs1998330 -- 21,389,129(+) acccc(C/G)tctct intron-variant
rs1998331 -- 21,389,171(+) tgcac(A/G/T)cacct intron-variant
rs3068337 -- 21,394,624(+) AAAAA(-/A/AA)GGCCC intron-variant
rs3762159 -- 21,391,377(+) GATGA(C/T)ACAGT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv483070 CNV Gain 15286789
esv2748456 CNV Deletion 23290073
esv2748457 CNV Deletion 23290073
esv1010334 CNV Deletion 20482838
esv2748458 CNV Deletion 23290073
esv1687094 CNV Deletion 17803354

Relevant External Links for CHD8 Gene

HapMap Linkage Disequilibrium report
CHD8
Human Gene Mutation Database (HGMD)
CHD8

Disorders for CHD8 Gene

(1) OMIM Diseases for CHD8 Gene (610528)

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.

(2) MalaCards Diseases for CHD8 Gene

Search for CHD8 Gene in MalaCards »
genes like me logo Genes that share disorders with CHD8: view

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 23
  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
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Physical association and coordinate function of the H3 K4 methyltransferase MLL1 and the H4 K16 acetyltransferase MOF. (PMID: 15960975) Dou Y. … Roeder R.G. (Cell 2005) 3 4
  5. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PMID: 12168954) Nakajima D. … Nagase T. (DNA Res. 2002) 3 4

Products for CHD8 Gene

Sources for CHD8 Gene

Back to Top

Content