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 58
  • KIAA1564 4
  • EC 3.6.1 58
  • 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 member of the chromodomain-helicase-DNA binding protein family, which is characterized by a SNF2-like domain and two chromatin organization modifier domains. The encoded protein also contains brahma and kismet domains, which are common to the subfamily of chromodomain-helicase-DNA binding proteins to which this protein belongs. This gene has been shown to function in several processes that include transcriptional regulation, epigenetic remodeling, promotion of cell proliferation, and regulation of RNA synthesis. Allelic variants of this gene are associated with autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2016]

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 Autism Spectrum Disorder Susceptibility, Chd8-Related. Among its related pathways are Regulation of Wnt-mediated beta catenin signaling and target gene transcription 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

Additional gene information for CHD8 Gene

No data available for CIViC summary , 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
GH14H021092 2 FANTOM5 Ensembl ENCODE dbSUPER 42.6 +354.7 354700 18 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZC3H11A SSRP1 METTL3 SUPT16H CHD8 METTL17 APEX1 PNP TEP1 ARHGEF40 TOX4 SNORA79B
GH14H020679 1.9 FANTOM5 ENCODE dbSUPER 35.6 +771.6 771594 9 MLX ZFP64 DMAP1 YY1 ZNF143 SP3 NFYC PPARGC1A SSRP1 ZNF610 METTL3 ENSG00000258515 SUPT16H CHD8 PARP2 TTC5 PIP4P1 METTL17 RNASE4 ENSG00000258768
GH14H021263 1.6 Ensembl ENCODE dbSUPER 37.2 +189.1 189072 7 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B SUPT16H METTL3 CHD8 METTL17 HNRNPC ENSG00000258515 PIP4P1 RAB2B APEX1 TRAV8-5
GH14H020609 1.1 ENCODE 54 +846.3 846277 1 PKNOX1 MLX ARNT ARID4B SIN3A ZNF2 YY1 SLC30A9 ZNF143 ZNF207 SUPT16H METTL3 CHD8 PARP2 METTL17 TTC5 ENSG00000258515 PIP4P1 ENSG00000258768 LINC00641
GH14H020622 1.3 Ensembl ENCODE 45.4 +831.4 831378 3 HNRNPUL1 SIN3A FEZF1 ZNF2 ZNF143 FOS ZC3H11A ZNF592 SSRP1 ZNF610 METTL3 SUPT16H CHD8 PARP2 METTL17 ENSG00000258515 TEP1 ENSG00000258768 OSGEP TOX4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000066484 26 2201 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 YY1 ZNF207 ZNF143 DEK

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. Interacts with FAM124B (PubMed:23285124).
    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

Selected DME Specific Peptides for CHD8 Gene

Q9HCK8:
  • QPAQPVL
  • VLIFSQMVR
  • FLQEVYNVGI
  • PVPRGRKGK
  • GAEEKIL
  • ILKPMMLRRLK
  • IFDSDWNP
  • KASFVAS
  • KASLKLG
  • LPGKIVLQGNQLAALTQAK
  • YGRTDCFRVEKHLLVYGWGRWRDIL
  • DEMGLGKT
  • SRQMIQQYEM
  • AVLQSMSG
  • EFSDLES
  • FARLDKKTDESLT
  • FCEEDIDQIL
  • TITIESEG
  • DFYRVVSTFG
  • VGKKRKRN
  • DEAHRLK
  • TGTPLQN
  • ETIIEVELT
  • YRLITRNSYEREM
  • APKIVILK
  • LDILEDY
  • REQVLCHPLL
  • KYFHGFVAMCRQVCRLPPAAGDEPPDP
  • KYNPDTLFQDE
  • MGLGKTIQ
  • GIHGPFL
  • FLEPSQFPSE
  • FDIHKADWI
  • DSDWNPQ
  • QKKYYRAILE
  • PAENGKTK
  • KKEIEDLLRKGAYAAIM
  • QKRRSNRQVKRKKYTEDLDIKITDDE
  • KRITLVLQQP
  • RADPALCFLE
  • ITTFEMIL
  • FNPDYVE
  • MLRRLKEDV
  • AGGLGINL
  • KVLTGTPLRPGVSIVSGNTVLA
  • GLSVVKVL
  • VLQGNQL
  • RCHRIGQ
  • KAVKVYRL
  • KQEKANRI
  • YLVKWCSLPYE
  • PITEERASRTLYR
  • QDESYKK
  • CNKVLLRVRMLY
  • DKLLPKL
  • TIQLQVQQ
  • LVIDTPRVRKQTR
  • LLIGVFK
  • PSMQFFVENPSEEDAAIVDK
  • NTMMELRKCCNHPYLI
  • PLSTITNW
  • WPPGSALTARLRRL
  • EDPEYKP
  • DKRIHQKLKRFKTK
  • LRQEVIG
  • QQRWTRRE

Post-translational modifications for CHD8 Gene

Domains & Families for CHD8 Gene

Gene Families for CHD8 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

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 :
  • Belongs to the SNF2/RAD54 helicase family. CHD8 subfamily.
Family:
  • Belongs to the SNF2/RAD54 helicase family. CHD8 subfamily.
genes like me logo Genes that share domains with CHD8: view

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

Phenotypes From GWAS Catalog for CHD8 Gene

Gene Ontology (GO) - Molecular Function for CHD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0002039 p53 binding ISS,IEA --
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
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

  • Applied Biological Materials Clones for CHD8
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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. {ECO:0000255 HAMAP-Rule:MF_03071}.

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 CHD8 gene
Compartment Confidence
nucleus 5
cytosol 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CHD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 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:0006355 regulation of transcription, DNA-templated IEA --
GO:0007420 brain development IMP 24998929
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
ATP Nutra Agonist 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

  • Applied Biological Materials Clones for CHD8
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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

Evidence on tissue expression from TISSUES for CHD8 Gene

  • Nervous system(4.8)
  • Lung(4.4)
  • Intestine(4.3)
  • Spleen(4.3)
  • Liver(4.2)
  • Lymph node(4.2)
genes like me logo Genes that share expression patterns with CHD8: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.81 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 99 (a)
OneToMany
-- 34
  • 83 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia CHD8 34
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHD8 33 34
  • 93.93 (n)
cow
(Bos Taurus)
Mammalia CHD8 33 34
  • 93.6 (n)
mouse
(Mus musculus)
Mammalia Chd8 33 16 34
  • 90.6 (n)
rat
(Rattus norvegicus)
Mammalia Chd8 33
  • 90.56 (n)
lizard
(Anolis carolinensis)
Reptilia CHD8 34
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia chd8 33
  • 69.18 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.32912 33
zebrafish
(Danio rerio)
Actinopterygii chd8 33 34
  • 63.75 (n)
fruit fly
(Drosophila melanogaster)
Insecta kis 34
  • 17 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea chd-7 34
  • 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
VAR_078704 Autism 18 (AUTS18) [MIM:615032]
rs781575717 Pathogenic 21,392,760(+) TCCCT(A/G/T)AGAGT upstream-variant-2KB, reference, missense
rs797044853 Pathogenic 21,406,928(-) GCGTT(-/GTGTT)ATCAT reference, frameshift-variant
rs886039692 Pathogenic 21,409,870(-) AAGGC(-/A)CCCAG reference, frameshift-variant
rs886039725 Pathogenic 21,401,072(-) TGTTC(-/TCTTCATAG)AATAA splice-acceptor-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

(5) MalaCards diseases for CHD8 Gene - From: HGMD, OMIM, ClinVar, GeneTests, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
autism 18
  • auts18
autism spectrum disorder susceptibility, chd8-related
  • autism, susceptibility to, 18
charge syndrome
  • charge association
autism spectrum disorder
  • pervasive developmental disorder
pervasive developmental 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, ECO:0000269 PubMed:26637798}. 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 CC … Hernandez N (Molecular and cellular biology 2007) 3 4 22 60
  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 research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4 60
  3. CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome. (PMID: 20453063) Batsukh T … Pauli S (Human molecular genetics 2010) 3 4 60
  4. Regulation of androgen-responsive transcription by the chromatin remodeling factor CHD8. (PMID: 20308527) Menon T … Bochar DA (Molecular endocrinology (Baltimore, Md.) 2010) 3 22 60
  5. Regulation of HOXA2 gene expression by the ATP-dependent chromatin remodeling enzyme CHD8. (PMID: 20085832) Yates JA … Bochar DA (FEBS letters 2010) 3 22 60

Products for CHD8 Gene

Sources for CHD8 Gene

Content
Loading form....