CHD7

Chromodomain-helicase-DNA-binding protein 7 is an ATP-dependent 'chromatin' or 'nucleosome' remodeling factor ^[5] that in humans is encoded by the CHD7 gene.^[6][7]

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)[1] Band 8q12.2 Start 60,678,740 bp[1] End 60,868,028 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4 A1|4 3.68 cM Start 8,690,406 bp[2] End 8,867,659 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 55636 320790 Ensembl ENSG00000171316 ENSMUSG00000041235 UniProt Q9P2D1 A2AJK6 RefSeq (mRNA) NM_017780 NM_001316690 NM_017783 NM_001033395 NM_001081417 NM_001277149 NM_001355382 RefSeq (protein) NP_001303619 NP_060250 NP_001264078 NP_001342311 Location (UCSC) Chr 8: 60.68 – 60.87 Mb Chr 4: 8.69 – 8.87 Mb PubMed search [3] [4]
Wikidata
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CHD7 is an ATP-dependent chromatin remodeler homologous to the Drosophila trithorax-group protein Kismet.^[8] Mutations in CHD7 are associated with CHARGE syndrome.^[9] This protein belongs to a larger group of ATP-dependent chromatin remodeling complexes, the CHD subfamily.

Clinical

Mutations in this gene have been associated with the CHARGE syndrome.