InnateDB Protein
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IDBP-71186.6
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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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CBX2
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Protein Name
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chromobox homolog 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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ENSP00000308750
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InnateDB Gene
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IDBG-71184 (CBX2)
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Protein Structure
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Function |
Component of a Polycomb group (PcG) multiprotein PRC1- like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. Involved in sexual development, acting as activator of NR5A1 expression. {ECO:0000269PubMed:19361780, ECO:0000269PubMed:21282530}.
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Subcellular Localization |
Nucleus {ECO:0000269PubMed:21282530}.
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Disease Associations |
46,XY sex reversal 5 (SRXY5) [MIM:613080]: A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females. {ECO:0000269PubMed:19361780}. 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 51 experimentally validated interaction(s) in this database.
They are also associated with 11 interaction(s) predicted by orthology.
Experimentally validated |
Total |
51
[view]
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Protein-Protein |
51
[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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Predicted by orthology |
Total |
11 [view]
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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 |
Q14781
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PhosphoSite |
PhosphoSite-Q14781
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
84733
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UniGene |
Hs.368410
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RefSeq |
NP_005180
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HUGO |
HGNC:1552
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OMIM |
602770
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CCDS |
CCDS32757
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HPRD |
14397
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IMGT |
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EMBL |
AC105337
BC004252
BC119759
BC119760
X77824
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GenPept |
AAH04252
AAI19760
AAI19761
CAA54839
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