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Chd8
Gene Detail
Symbol

Name
ID
Chd8
chromodomain helicase DNA binding protein 8
MGI:1915022
Synonyms
5830451P18Rik, Duplin, mKIAA1564
Feature Type
protein coding gene
Genetic Map
Chromosome 14
26.84 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr14:52198151-52237791 bp, - strand
From VEGA annotation of GRCm38

  39641 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:72405  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: CHD8
Gene Tree: Chd8

Human
homologs
CHD8, chromodomain helicase DNA binding protein 8
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 57680
neXtProt AC: NX_Q9HCK8

Human Synonyms: AUTS18, HELSNF1

Human Chr (Location): 14q11.2; chr14:21385194-21437298 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human CHD8

Mutations,
alleles, and
phenotypes
All mutations/alleles(11) : Gene trapped(9) Targeted(2)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Homozygous null embryos are growth retarded starting at E5.5 and exhibit developmental arrest at E6.5. Mutants develop into an egg cylinder but do not form a primitive streak or mesoderm and exhibit increased apoptosis at E7.5.
 
Interactions
Chd8 interacts with 227 markers (Mir1b, Mir9-1, Mir9-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (49 annotations)
Process ATP-dependent chromatin remodeling, brain development, ...
Component MLL1 complex, nucleoplasm, ...
Function armadillo repeat domain binding, ATP binding, ...
External Resources: FuncBase
Expression
Literature Summary: (5 records)
Data Summary: Results (118)    Tissues (109)    Images (2)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 118
cDNA source data(12)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase chd8 ; ZFIN chd8    NEW 
Molecular
reagents
All nucleic(15) Genomic(1) cDNA(14)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000023392 (Evidence)
Ensembl Gene Model ENSMUSG00000053754 (Evidence)
Entrez Gene 67772 (Evidence)
DFCI TC1576225, TC1605081, TC1608917, TC1616466, TC1695742, TC1765344
DoTS DT.101165083, DT.110747354, DT.527046, DT.91335432, DT.94211283, DT.94211287, DT.94211290, DT.94217030
NIA Mouse Gene Index U035535
EC 3.6.4.12
Consensus CDS Project CCDS36919.1
International Mouse Phenotyping Consortium Status Chd8
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000023392 VEGA Gene Model | MGI Sequence Detail 39641 C57BL/6J ±  kb
transcript OTTMUST00000056789 VEGA | MGI Sequence Detail 8190 Not Applicable 
polypeptide OTTMUSP00000027337 VEGA | MGI Sequence Detail 2582 Not Applicable 

For the selected sequences
All sequences(73) RefSeq(7) UniProt(3)
Polymorphisms
SNPs within 2kb(228 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR006576 BRK domain
InterPro IPR023780 Chromo domain
InterPro IPR016197 Chromo domain-like
InterPro IPR000953 Chromo domain/shadow
InterPro IPR001650 Helicase, C-terminal
InterPro IPR014001 Helicase, superfamily 1/2, ATP-binding domain
InterPro IPR027417 P-loop containing nucleoside triphosphate hydrolase
InterPro IPR000330 SNF2-related
Protein Ontology PR:000005414 chromodomain-helicase-DNA-binding protein 8
References
(Earliest) J:28401 Bettenhausen B, et al., Efficient isolation of novel mouse genes differentially expressed in early postimplantation embryos. Genomics. 1995 Aug 10;28(3):436-41
(Latest) J:183665 Nishiyama M, et al., Histone H1 recruitment by CHD8 is essential for suppression of the Wnt-beta-catenin signaling pathway. Mol Cell Biol. 2012 Jan;32(2):501-12
All references(39)
Other
accession IDs
MGI:2145721, MGI:3510543

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/18/2015
MGI 6.0
The Jackson Laboratory