CHD7

CHD7
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2CKC, 2V0E, 2V0F
Identifiers
Aliases	CHD7, CRG, HH5, IS3, KAL5, chromodomain helicase DNA binding protein 7
External IDs	OMIM: 608892 MGI: 2444748 HomoloGene: 19067 GeneCards: CHD7
Gene ontology Molecular function • nucleotide binding • DNA binding • helicase activity • chromatin binding • RNA polymerase II core promoter proximal region sequence-specific DNA binding • hydrolase activity, acting on acid anhydrides • protein binding • hydrolase activity • ATP binding • promoter-specific chromatin binding Cellular component • nucleolus • nucleus Biological process • skeletal system development • palate development • olfactory behavior • semicircular canal morphogenesis • regulation of transcription, DNA-templated • cognition • locomotory behavior • adult heart development • cranial nerve development • heart morphogenesis • olfactory nerve development • in utero embryonic development • sensory perception of sound • blood circulation • transcription, DNA-templated • epithelium development • genitalia development • limb development • ear morphogenesis • regulation of growth hormone secretion • central nervous system development • T cell differentiation • face development • blood vessel development • retina development in camera-type eye • inner ear morphogenesis • artery morphogenesis • positive regulation of multicellular organism growth • rRNA processing • camera-type eye development • olfactory bulb development • nose development • female genitalia development • regulation of neurogenesis • adult walking behavior • embryonic hindlimb morphogenesis • ventricular trabecula myocardium morphogenesis • tissue remodeling • aorta morphogenesis • positive regulation of transcription from RNA polymerase II promoter • covalent chromatin modification • right ventricular compact myocardium morphogenesis • regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum • aorta development • atrioventricular canal development • blood vessel remodeling • chromatin remodeling • cardiac septum morphogenesis • innervation Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	55636	320790
Ensembl	ENSG00000171316	ENSMUSG00000041235
UniProt	Q9P2D1	A2AJK6
RefSeq (mRNA)	NM_017780 NM_001316690	NM_001033395 NM_001081417 NM_001277149
RefSeq (protein)	NP_001303619 NP_060250	NP_001264078.1 NP_001264078
Location (UCSC)	Chr 8: 60.68 – 60.87 Mb	Chr 4: 8.69 – 8.87 Mb
PubMed search

2CKC, 2V0E, 2V0F

55636

320790

ENSG00000171316

ENSMUSG00000041235

Q9P2D1

A2AJK6

NM_017780
NM_001316690

NM_001033395
NM_001081417
NM_001277149

NP_001303619
NP_060250

NP_001264078.1
NP_001264078

Chromodomain-helicase-DNA-binding protein 7 also known as ATP-dependent helicase CHD7 is an enzyme that in humans is encoded by the CHD7 gene.

CHD7 is an ATP-dependent chromatin remodeler homologous to the Drosophila trithorax-group protein Kismet. Mutations in CHD7 are associated with CHARGE syndrome.

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