Entity Details

Primary name CHD2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO14647
EntryNameCHD2_HUMAN
FullNameChromodomain-helicase-DNA-binding protein 2
TaxID9606
Evidenceevidence at protein level
Length1828
SequenceStatuscomplete
DateCreated1998-07-15
DateModified2021-06-02

Ontological Relatives

GenesCHD2

GO terms

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GOName
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0003677 DNA binding
GO:0003678 DNA helicase activity
GO:0003723 RNA binding
GO:0005524 ATP binding
GO:0005634 nucleus
GO:0006325 chromatin organization
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007517 muscle organ development
GO:0042393 histone binding
GO:0070615 nucleosome-dependent ATPase activity

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
IPR014001 Helicase superfamily 1/2, ATP-binding domainDomainDomain
IPR016197 Chromo-like domain superfamilyFamilyHomologous superfamily
IPR023779 Chromo domain, conserved siteSiteConserved site
IPR023780 Chromo domainDomainDomain
IPR025260 Domain of unknown function DUF4208DomainDomain
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily
IPR038718 SNF2-like, N-terminal domain superfamilyFamilyHomologous superfamily
IPR040793 CDH1/2, SANT-Helical linker 1DomainDomain

Diseases

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Disease IDSourceNameDescription
615369 OMIMEpileptic encephalopathy, childhood-onset (EEOC)A severe form of epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability. The disease is caused by variants affecting the gene represented in this entry.