Version 5.4
Homo sapiens Protein: CBX2
Summary
InnateDB Protein IDBP-71188.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CBX2
Protein Name chromobox homolog 2
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000269399
InnateDB Gene IDBG-71184 (CBX2)
Protein Structure
UniProt Annotation
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}.
Subcellular Localization Nucleus {ECO:0000269PubMed:21282530}.
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.
Tissue Specificity
Comments
Interactions
Number of Interactions 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]
Protein-Protein 51 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 11 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0005515 protein binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006351 transcription, DNA-templated
GO:0016568 chromatin modification
GO:0030154 cell differentiation
GO:0045137 development of primary sexual characteristics
Cellular Component
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0031519 PcG protein complex
GO:0035102 PRC1 complex
Protein Structure and Domains
PDB ID
InterPro IPR000953 Chromo domain/shadow
IPR016197 Chromo domain-like
IPR017984 Chromo domain subgroup
IPR023780 Chromo domain
PFAM PF00385
PRINTS PR00504
PIRSF
SMART SM00298
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q14781
PhosphoSite PhosphoSite-Q14781
TrEMBL
UniProt Splice Variant
Entrez Gene 84733
UniGene Hs.368410
RefSeq NP_116036
HUGO HGNC:1552
OMIM 602770
CCDS CCDS11764
HPRD 14397
IMGT
EMBL AC105337 BC004252 BC119759 BC119760 X77824
GenPept AAH04252 AAI19760 AAI19761 CAA54839

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca