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; OMA:CHD7 - orthologs
Gene location (Human)
Chr.	Chromosome 8 (human)
End	60,868,028 bp
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	8,867,659 bp
RNA expression pattern
	Top expressed in
	secondary oocyte; ; cerebellar vermis; ; sural nerve; ; inferior ganglion of vagus nerve; ; external globus pallidus; ; ventricular zone; ; pars reticulata; ; subthalamic nucleus; ; ventral tegmental area; ; embryo;
	Top expressed in
	neural layer of retina; ; Rostral migratory stream; ; tail of embryo; ; zygote; ; external carotid artery; ; genital tubercle; ; internal carotid artery; ; ventricular zone; ; secondary oocyte; ; granulocyte;
	More reference expression data
	n/a
Gene ontology
Molecular function	nucleotide binding; DNA binding; helicase activity; chromatin binding; RNA polymerase II cis-regulatory region sequence-specific DNA binding; hydrolase activity, acting on acid anhydrides; protein binding; hydrolase activity; ATP binding; promoter-specific chromatin binding;
Cellular component	nucleus; nucleoplasm; nucleolus;
Biological process	skeletal system 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; hearing; 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 by RNA polymerase II; 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; chromatin organization; roof of mouth development; secondary palate development; response to bacterium;
	Sources:Amigo / QuickGO
Orthologs
	55636
	320790
	ENSG00000171316
	ENSMUSG00000041235
	Q9P2D1
	A2AJK6
	NM_017780; NM_001316690; NM_017783
	NM_001033395; NM_001081417; NM_001277149; NM_001355382
	NP_001303619; NP_060250
	NP_001264078; NP_001342311
	Wikidata
View/Edit Human	View/Edit Mouse

Chromodomain-helicase-DNA-binding protein 7 is an ATP-dependent 'chromatin' or 'nucleosome' remodeling factor 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. This protein belongs to a larger group of ATP-dependent chromatin remodeling complexes, the CHD subfamily.