Entity Details

Primary name CHD7
Entity type gene
Source Source Link

Details

PrimaryID55636
RefseqGeneNG_007009
SymbolCHD7
Namechromodomain helicase DNA binding protein 7
Chromosome8
Location8q12.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-10-30
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCHD7_HUMAN

GO terms

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GOName
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0001501 skeletal system development
GO:0001701 in utero embryonic development
GO:0001974 blood vessel remodeling
GO:0003007 heart morphogenesis
GO:0003222 ventricular trabecula myocardium morphogenesis
GO:0003226 right ventricular compact myocardium morphogenesis
GO:0003678 DNA helicase activity
GO:0003682 chromatin binding
GO:0005524 ATP binding
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0006338 chromatin remodeling
GO:0006355 regulation of transcription, DNA-templated
GO:0006364 rRNA processing
GO:0007417 central nervous system development
GO:0007512 adult heart development
GO:0007605 sensory perception of sound
GO:0007628 adult walking behavior
GO:0008015 blood circulation
GO:0009617 response to bacterium
GO:0010880 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
GO:0016787 hydrolase activity
GO:0021545 cranial nerve development
GO:0021553 olfactory nerve development
GO:0021772 olfactory bulb development
GO:0030217 T cell differentiation
GO:0030540 female genitalia development
GO:0035116 embryonic hindlimb morphogenesis
GO:0035909 aorta morphogenesis
GO:0036302 atrioventricular canal development
GO:0040018 positive regulation of multicellular organism growth
GO:0042048 olfactory behavior
GO:0042472 inner ear morphogenesis
GO:0043584 nose development
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0048752 semicircular canal morphogenesis
GO:0048806 genitalia development
GO:0050767 regulation of neurogenesis
GO:0050890 cognition
GO:0060041 retina development in camera-type eye
GO:0060123 regulation of growth hormone secretion
GO:0060173 limb development
GO:0060324 face development
GO:0060384 innervation
GO:0060411 cardiac septum morphogenesis
GO:0060429 epithelium development
GO:0062009 secondary palate development
GO:0070615 nucleosome-dependent ATPase activity
GO:1990841 promoter-specific chromatin binding

Diseases

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Disease IDSourceNameDescription
612370 OMIMHypogonadotropic hypogonadism 5 with or without anosmia (HH5)A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). The disease is caused by variants affecting the gene represented in this entry.
214800 OMIMCHARGE syndrome (CHARGES)Common cause of congenital anomalies. Is characterized by a non-random pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina. The disease is caused by variants affecting the gene represented in this entry.
608765 OMIMIdiopathic scoliosis 3 (IS3)An abnormality of the vertebral column in which patients develop lateral curvature of the spine of at least 10 degrees. Disease susceptibility is associated with variants affecting the gene represented in this entry.

Interactions

75 interactions

InteractorPartnerSourcesPublicationsLink
CHD7CHD8BioGRID, UniProt20453063 24705355 details
CHD7CTCFBioGRID17603073 details
CHD7PBRM1BioGRID, DIP20130577 details
CHD7SMARCE1BioGRID, DIP20130577 21532573 details
CHD7SMARCA4BioGRID, DIP20130577 21532573 details
CHD7SMARCC2BioGRID, DIP20130577 21532573 details
CHD7SOX2BioGRID, MINT21532573 23667531 28794006 details
CHD7TERF2BioGRID20811636 details
CHD7MTA2BioGRID21532573 details
CHD7MTA1BioGRID21532573 details
CHD7GATAD2ABioGRID21532573 details
CHD7SALL3BioGRID21532573 details
CHD7ARID1ABioGRID21532573 details
CHD7ZBTB20BioGRID21532573 details
CHD7OLIG1BioGRID21532573 details
CHD7VARS1BioGRID21532573 details
CHD7WDR5BioGRID24705355 details
CHD7ASH2LBioGRID24705355 details
CHD7RBBP5BioGRID24705355 details
CHD7ARBioGRID28611094 details
CHD7SOX10BioGRID26928066 details
CHD7SUPT5HBioGRID29395067 details
CHD7SNW1BioGRID, MINT20467437 details
CHD7CBX4UniProt21282530 details
CHD7NESBioGRID, IntAct26496610 details
CHD7BRD7BioGRID, DIP20130577 details
CHD7SMARCD1DIP20130577 details
CHD7SMARCC1BioGRID, DIP20130577 details
CHD7PARP1BioGRID, DIP20130577 34079125 details
CHD7SMARCD3DIP20130577 details
CHD7SMARCB1DIP20130577 details
CHD7SMARCD2DIP20130577 details
CHD7ARID2BioGRID, DIP20130577 details
CHD7MKI67BioGRID, IntAct26949251 details
CHD7RPL7ABioGRID, IntAct30021884 details
CHD7ESR1BioGRID, IntAct31527615 details
CHD7SIRT7BioGRID22586326 details
CHD7POU5F1BioGRID26687479 details
CHD7NKX2-1BioGRID28192407 details
CHD7ESR2BioGRID29509190 details
CHD7LARP7BioGRID29845934 details
CHD7EZH2BioGRID27634302 details
CHD7SUZ12BioGRID27634302 details
CHD7MYCBioGRID29467282 details
CHD7WDR76BioGRID27248496 details
CHD7H4C1BioGRID27248496 30804502 details
CHD7H2BC3BioGRID27248496 details
CHD7NR2C2BioGRID30463901 details
CHD7XRCC6BioGRID30585729 details
CHD7VRK3BioGRID28927264 details
CHD7RHBDD1BioGRID31177093 details
CHD7KIF14BioGRID31586073 details
CHD7BCAR1BioGRID33001583 details
CHD7CICBioGRID29844126 details
CHD7NR3C1BioGRID31182584 details
CHD7APEX1BioGRID34079125 details
CHD7ASF1ABioGRID34079125 details
CHD7CBX3BioGRID34079125 details
CHD7POLR1GBioGRID34079125 details
CHD7CENPABioGRID34079125 details
CHD7COILBioGRID34079125 details
CHD7H2BC8BioGRID34079125 details
CHD7H3C1BioGRID34079125 details
CHD7NUP50BioGRID34079125 details
CHD7POLR1EBioGRID34079125 details
CHD7TERF2IPBioGRID34079125 details
CHD7ZNF330BioGRID34079125 details
CHD7MYCNIntAct21532573 details
CHD7GLI2IntAct21532573 details
CHD7JAG1IntAct21532573 details
CHD7GLI3IntAct21532573 details
CHD7NDNIntAct21532573 details
CHD7TRIM25BioGRID29117863 details
CHD7VIRMABioGRID29507755 details
CHD7MKRN2BioGRID32460013 details