Aliases for JARID2 Gene
External Ids for JARID2 Gene
Previous HGNC Symbols for JARID2 Gene
Previous GeneCards Identifiers for JARID2 Gene
This gene encodes a Jumonji- and AT-rich interaction domain (ARID)-domain-containing protein. The encoded protein is a DNA-binding protein that functions as a transcriptional repressor. This protein interacts with the Polycomb repressive complex 2 (PRC2) which plays an essential role in regulating gene expression during embryonic development. This protein facilitates the recruitment of the PRC2 complex to target genes. Alternate splicing results in multiple transcript variants. Mutations in this gene are associated with chronic myeloid malignancies. [provided by RefSeq, May 2012]
GeneCards Summary for JARID2 Gene
JARID2 (Jumonji And AT-Rich Interaction Domain Containing 2) is a Protein Coding gene. Diseases associated with JARID2 include Tetralogy Of Fallot and Hereditary Lymphedema I. Among its related pathways are Signaling pathways regulating pluripotency of stem cells and Gene Expression. Gene Ontology (GO) annotations related to this gene include chromatin binding and histone demethylase activity. An important paralog of this gene is KDM5C.
UniProtKB/Swiss-Prot Summary for JARID2 Gene
Regulator of histone methyltransferase complexes that plays an essential role in embryonic development, including heart and liver development, neural tube fusion process and hematopoiesis. Acts by modulating histone methyltransferase activity and promoting the recruitment of histone methyltransferase complexes to their target genes. Binds DNA and mediates the recruitment of the PRC2 complex to target genes in embryonic stem cells. Does not have histone demethylase activity but regulates activity of various histone methyltransferase complexes. In embryonic stem cells, it associates with the PRC2 complex and inhibits trimethylation of 'Lys-27' of histone H3 (H3K27me3) by the PRC2 complex, thereby playing a key role in differentiation of embryonic stem cells and normal development. In cardiac cells, it is required to repress expression of cyclin-D1 (CCND1) by activating methylation of 'Lys-9' of histone H3 (H3K9me) by the GLP1/EHMT1 and G9a/EHMT2 histone methyltransferases. Also acts as a transcriptional repressor of ANF via its interaction with GATA4 and NKX2-5. Participates in the negative regulation of cell proliferation signaling.