Entity Details

Primary name CHD7_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9P2D1
EntryNameCHD7_HUMAN
FullNameChromodomain-helicase-DNA-binding protein 7
TaxID9606
Evidenceevidence at protein level
Length2997
SequenceStatuscomplete
DateCreated2002-09-19
DateModified2021-06-02

Ontological Relatives

GenesCHD7

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

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR000330 SNF2, N-terminalDomainDomain
IPR000953 Chromo/chromo shadow domainDomainDomain
IPR001650 Helicase, C-terminalDomainDomain
IPR006576 BRK domainDomainDomain
IPR014001 Helicase superfamily 1/2, ATP-binding domainDomainDomain
IPR016197 Chromo-like domain superfamilyFamilyHomologous superfamily
IPR023780 Chromo domainDomainDomain
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily
IPR037259 BRK domain superfamilyFamilyHomologous superfamily
IPR038718 SNF2-like, N-terminal domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
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.
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.
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.