CHD8 information

CHD8
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2CKA, 2DL6
Identifiers
Aliases	CHD8, AUTS18, HELSNF1, chromodomain helicase DNA binding protein 8, IDDAM
External IDs	OMIM: 610528; MGI: 1915022; HomoloGene: 72405; GeneCards: CHD8; OMA:CHD8 - orthologs
Gene location (Human)
Chr.	Chromosome 14 (human)
End	21,456,126 bp
Gene location (Mouse)
Chr.	Chromosome 14 (mouse)
End	52,495,237 bp
RNA expression pattern
	Top expressed in
	sural nerve; ; ventricular zone; ; right hemisphere of cerebellum; ; granulocyte; ; ganglionic eminence; ; skin of leg; ; skin of abdomen; ; epithelium of colon; ; anterior pituitary; ; spleen;
	Top expressed in
	tail of embryo; ; genital tubercle; ; Rostral migratory stream; ; zygote; ; internal carotid artery; ; ventricular zone; ; secondary oocyte; ; external carotid artery; ; fossa; ; Ileal epithelium;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	DNA binding; nucleotide binding; ATP-dependent activity, acting on DNA; helicase activity; chromatin binding; methylated histone binding; hydrolase activity, acting on acid anhydrides; DNA helicase activity; protein binding; hydrolase activity; ATP binding; p53 binding; beta-catenin binding; histone binding; armadillo repeat domain binding;
Cellular component	nucleoplasm; MLL1 complex; nucleus; protein-containing complex;
Biological process	regulation of transcription, DNA-templated; negative regulation of transcription by RNA polymerase II; Wnt signaling pathway; transcription, DNA-templated; positive regulation of transcription, DNA-templated; brain development; digestive tract development; positive regulation of transcription by RNA polymerase III; negative regulation of canonical Wnt signaling pathway; positive regulation of transcription by RNA polymerase II; DNA duplex unwinding; chromatin organization; negative regulation of Wnt signaling pathway; negative regulation of transcription, DNA-templated; canonical Wnt signaling pathway; negative regulation of apoptotic process; in utero embryonic development; startle response; social behavior; prepulse inhibition; negative regulation of fibroblast apoptotic process;
	Sources:Amigo / QuickGO
Orthologs
	57680
	67772
	ENSG00000100888
	ENSMUSG00000053754
	Q9HCK8
	Q09XV5
	NM_020920; NM_001170629
	NM_001010928; NM_201637
	NP_001164100; NP_065971
	NP_963999
	Wikidata
View/Edit Human	View/Edit Mouse

Chromodomain-helicase-DNA-binding protein 8 is an enzyme that in humans is encoded by the CHD8 gene.^[5]^[6]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000100888 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000053754 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Nagase T, Kikuno R, Nakayama M, Hirosawa M, Ohara O (August 2000). "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". DNA Research. 7 (4): 273–81. doi:10.1093/dnares/7.4.271. PMID 10997877.
^ "Entrez Gene: CHD8 chromodomain helicase DNA binding protein 8".

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000100888 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000053754 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid10997877-5] Nagase T, Kikuno R, Nakayama M, Hirosawa M, Ohara O (August 2000). "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". DNA Research. 7 (4): 273–81. doi:10.1093/dnares/7.4.271. PMID 10997877.

[entrez-6] "Entrez Gene: CHD8 chromodomain helicase DNA binding protein 8".

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