Homo sapiens Gene: CHD8
Summary
InnateDB Gene IDBG-2645.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CHD8
Gene Name chromodomain helicase DNA binding protein 8
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000100888
Encoded Proteins
chromodomain helicase DNA binding protein 8
chromodomain helicase DNA binding protein 8
chromodomain helicase DNA binding protein 8
chromodomain helicase DNA binding protein 8
chromodomain helicase DNA binding protein 8
chromodomain helicase DNA binding protein 8
chromodomain helicase DNA binding protein 8
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 14:21385194-21456126
Strand Reverse strand
Band q11.2
Transcripts
ENST00000399982 ENSP00000382863
ENST00000430710 ENSP00000406288
ENST00000557727
ENST00000557364 ENSP00000451601
ENST00000553870 ENSP00000451071
ENST00000555301
ENST00000557329
ENST00000555962
ENST00000555935 ENSP00000451442
ENST00000554384
ENST00000553283 ENSP00000450860
ENST00000553622 ENSP00000450957
ENST00000556833
ENST00000553651
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 39 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
Experimentally validated
Total 39 [view]
Protein-Protein 36 [view]
Protein-DNA 3 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 5 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0002039 p53 binding
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0003678 DNA helicase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008013 beta-catenin binding
GO:0008094 DNA-dependent ATPase activity
GO:0016787 hydrolase activity
GO:0016817 hydrolase activity, acting on acid anhydrides
GO:0035064 methylated histone binding
GO:0042393 histone binding
GO:0070016 armadillo repeat domain binding
Biological Process
GO:0001701 in utero embryonic development
GO:0006200 ATP catabolic process
GO:0006351 transcription, DNA-templated
GO:0030178 negative regulation of Wnt signaling pathway
GO:0032508 DNA duplex unwinding
GO:0043044 ATP-dependent chromatin remodeling
GO:0043066 negative regulation of apoptotic process
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0045945 positive regulation of transcription from RNA polymerase III promoter
GO:0060070 canonical Wnt signaling pathway
GO:2000270 negative regulation of fibroblast apoptotic process
Cellular Component
GO:0005634 nucleus
GO:0043234 protein complex
GO:0071339 MLL1 complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
TSLP pathway
REACTOME
misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling pathway
Signaling by WNT in cancer pathway
Signaling by Wnt pathway
deactivation of the beta-catenin transactivating complex pathway
Signal Transduction pathway
TCF dependent signaling in response to WNT pathway
RNF mutants show enhanced WNT signaling and proliferation pathway
XAV939 inhibits tankyrase, stabilizing AXIN pathway
Disease pathway
KEGG
Wnt signaling pathway pathway
INOH
PID NCI
Regulation of nuclear beta catenin signaling and target gene transcription
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.530698 Hs.718220
RefSeq NM_001170629 NM_020920
HUGO
OMIM
CCDS CCDS45081 CCDS53885
HPRD 16712
IMGT
EMBL
GenPept
RNA Seq Atlas