InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CHD2

Summary

InnateDB Protein

IDBP-242066.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CHD2

Protein Name

chromodomain helicase DNA binding protein 2

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000377747

InnateDB Gene

IDBG-31108 (CHD2)

Protein Structure

UniProt Annotation

Function

DNA-binding helicase that specifically binds to the promoter of target genes, leading to chromatin remodeling, possibly by promoting deposition of histone H3.3. Involved in myogenesis via interaction with MYOD1: binds to myogenic gene regulatory sequences and mediates incorporation of histone H3.3 prior to the onset of myogenic gene expression, promoting their expression (By similarity). {ECO:0000250}.

Subcellular Localization

Nucleus {ECO:0000250}. Note=Binds to myogenic gene promoters. {ECO:0000250}.

Disease Associations

Epileptic encephalopathy, childhood-onset (EEOC) [MIM:615369]: 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. {ECO:0000269PubMed:23708187}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.

Experimentally validated
Total	8 [view]
Protein-Protein	8 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001046	core promoter sequence-specific DNA binding
GO:0003677	DNA binding
GO:0004003	ATP-dependent DNA helicase activity
GO:0005524	ATP binding
GO:0042393	histone binding
GO:0044822	poly(A) RNA binding

Biological Process

GO:0006351	transcription, DNA-templated
GO:0006357	regulation of transcription from RNA polymerase II promoter
GO:0007517	muscle organ development
GO:0016568	chromatin modification
GO:0032508	DNA duplex unwinding

Cellular Component

GO:0005634	nucleus
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR000330 SNF2-related
IPR000953 Chromo domain/shadow
IPR001650 Helicase, C-terminal
IPR009057 Homeodomain-like
IPR014001 Helicase, superfamily 1/2, ATP-binding domain
IPR016197 Chromo domain-like
IPR023780 Chromo domain
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF00176
PF00271
PF00385

PRINTS

PIRSF

SMART

SM00298
SM00490
SM00487

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

O14647