InnateDB Protein
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IDBP-380812.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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CHD2
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Protein Name
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chromodomain helicase DNA binding protein 2
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000406581
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InnateDB Gene
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IDBG-31108 (CHD2)
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Protein Structure
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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}.
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Subcellular Localization |
Nucleus {ECO:0000250}. Note=Binds to myogenic gene promoters. {ECO:0000250}.
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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.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
8
[view]
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Protein-Protein |
8
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000953
Chromo domain/shadow
IPR016197
Chromo domain-like
IPR023780
Chromo domain
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PFAM |
PF00385
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PRINTS |
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PIRSF |
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SMART |
SM00298
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TIGRFAMs |
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Modification |
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SwissProt |
O14647
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PhosphoSite |
PhosphoSite-O14647
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TrEMBL |
Q6AI05
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UniProt Splice Variant |
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Entrez Gene |
1106
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UniGene |
Hs.220864
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RefSeq |
NP_001036037
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HUGO |
HGNC:1917
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OMIM |
602119
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CCDS |
CCDS45356
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HPRD |
03669
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IMGT |
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EMBL |
AC013394
AF006514
BC007347
BT007050
CH471101
CR627422
CR978407
DQ088985
DQ088986
FJ515838
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GenPept |
AAB87382
AAH07347
AAP35699
AAZ85980
AAZ85981
ACS13730
CAH10509
EAX02160
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