ENSG00000100888


Homo sapiens

Features
Gene ID: ENSG00000100888
  
Biological name :CHD8
  
Synonyms : CHD8 / chromodomain helicase DNA binding protein 8 / Q9HCK8
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 14
Strand: -1
Band: q11.2
Gene start: 21385194
Gene end: 21456126
  
Corresponding Affymetrix probe sets: 1566340_at (Human Genome U133 Plus 2.0 Array)   212571_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000496722
Ensembl peptide - ENSP00000496730
Ensembl peptide - ENSP00000382863
Ensembl peptide - ENSP00000406288
Ensembl peptide - ENSP00000450860
Ensembl peptide - ENSP00000450957
Ensembl peptide - ENSP00000451071
Ensembl peptide - ENSP00000451442
Ensembl peptide - ENSP00000451601
Ensembl peptide - ENSP00000493865
Ensembl peptide - ENSP00000494402
Ensembl peptide - ENSP00000495070
Ensembl peptide - ENSP00000495174
Ensembl peptide - ENSP00000495240
Ensembl peptide - ENSP00000496565
NCBI entrez gene - 57680     See in Manteia.
OMIM - 610528
RefSeq - NM_001170629
RefSeq - NM_020920
RefSeq Peptide - NP_065971
RefSeq Peptide - NP_001164100
swissprot - G3V2T9
swissprot - H0YJA4
swissprot - G3V303
swissprot - Q9HCK8
swissprot - H0YJG4
Ensembl - ENSG00000100888
  
Related genetic diseases (OMIM): 615032 - {Autism, susceptibility to, 18}, 615032
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 chd8ENSDARG00000075543Danio rerio
 Chd8ENSMUSG00000053754Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CHD7 / Q9P2D1 / chromodomain helicase DNA binding protein 7ENSG0000017131652
CHD9 / Q3L8U1 / chromodomain helicase DNA binding protein 9ENSG0000017720051
CHD6 / Q8TD26 / chromodomain helicase DNA binding protein 6ENSG0000012417742
CHD3 / Q12873 / chromodomain helicase DNA binding protein 3ENSG0000017000419
CHD4 / Q14839 / chromodomain helicase DNA binding protein 4ENSG0000011164218
CHD5 / Q8TDI0 / chromodomain helicase DNA binding protein 5ENSG0000011625418
CHD2 / O14647 / chromodomain helicase DNA binding protein 2ENSG0000017357517
CHD1 / O14646 / chromodomain helicase DNA binding protein 1ENSG0000015392216
AC013394.1ENSG000002797651


Protein motifs (from Interpro)
Interpro ID Name
 IPR000330  SNF2-related, N-terminal domain
 IPR000953  Chromo/chromo shadow domain
 IPR001650  Helicase, C-terminal
 IPR006576  BRK domain
 IPR014001  Helicase superfamily 1/2, ATP-binding domain
 IPR016197  Chromo-like domain superfamily
 IPR023780  Chromo domain
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR034724  Chromodomain-helicase-DNA-binding protein 8
 IPR037259  BRK domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IMP
 biological_processGO:0001701 in utero embryonic development IMP
 biological_processGO:0006325 chromatin organization IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0007420 brain development IMP
 biological_processGO:0016055 Wnt signaling pathway IEA
 biological_processGO:0030178 negative regulation of Wnt signaling pathway IDA
 biological_processGO:0032508 DNA duplex unwinding IEA
 biological_processGO:0043044 ATP-dependent chromatin remodeling IMP
 biological_processGO:0043066 negative regulation of apoptotic process IDA
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IMP
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IDA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IMP
 biological_processGO:0045945 positive regulation of transcription by RNA polymerase III IMP
 biological_processGO:0048565 digestive tract development IMP
 biological_processGO:0060070 canonical Wnt signaling pathway IDA
 biological_processGO:0090090 negative regulation of canonical Wnt signaling pathway IDA
 biological_processGO:2000270 negative regulation of fibroblast apoptotic process IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0032991 protein-containing complex IDA
 cellular_componentGO:0071339 MLL1 complex IDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0002039 p53 binding ISS
 molecular_functionGO:0003677 DNA binding IMP
 molecular_functionGO:0003678 DNA helicase activity IMP
 molecular_functionGO:0003682 chromatin binding IDA
 molecular_functionGO:0004386 helicase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IDA
 molecular_functionGO:0008013 beta-catenin binding IDA
 molecular_functionGO:0008094 DNA-dependent ATPase activity IDA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0016817 hydrolase activity, acting on acid anhydrides IEA
 molecular_functionGO:0035064 methylated histone binding IDA
 molecular_functionGO:0042393 histone binding ISS
 molecular_functionGO:0070016 armadillo repeat domain binding IPI


Pathways (from Reactome)
Pathway description
Deactivation of the beta-catenin transactivating complex


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000168036 CTNNB1 / P35222 / catenin beta 1  / reaction / complex






 

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