JARID2

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.

Full Name

jumonji and AT-rich interaction domain containing 2

Function

Regulator of histone methyltransferase complexes that plays an essential role in embryonic development, including heart and liver development, neural tube fusion process and hematopoiesis (PubMed:20075857).
Acts as an accessory subunit for the core PRC2 (Polycomb repressive complex 2) complex, which mediates histone H3K27 (H3K27me3) trimethylation on chromatin (PubMed:20075857, PubMed:29499137, PubMed:31959557).
Binds DNA and mediates the recruitment of the PRC2 complex to target genes in embryonic stem cells, thereby playing a key role in stem cell differentiation and normal embryonic development (PubMed:20075857).
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 (By similarity).
Also acts as a transcriptional repressor of ANF via its interaction with GATA4 and NKX2-5 (By similarity).
Participates in the negative regulation of cell proliferation signaling (By similarity).
Does not have histone demethylase activity (By similarity).

Biological Process

Cellular response to leukemia inhibitory factorIEA:Ensembl
Central nervous system developmentManual Assertion Based On ExperimentTAS:ProtInc
Chromatin remodelingManual Assertion Based On ExperimentIBA:GO_Central
Dosage compensation by inactivation of X chromosomeIEA:Ensembl
Liver developmentIEA:Ensembl
Negative regulation of cardiac muscle cell proliferationIEA:Ensembl
Negative regulation of cardiac muscle hypertrophyIEA:Ensembl
Negative regulation of histone methylationISS:UniProtKB
Negative regulation of transcription by RNA polymerase IIIEA:Ensembl
Negative regulation of transcription, DNA-templatedISS:UniProtKB
Positive regulation of histone H3-K9 methylationISS:UniProtKB
Protein localization to pericentric heterochromatinIEA:Ensembl
Spleen developmentIEA:Ensembl
Stem cell differentiationISS:UniProtKB
Thymus developmentIEA:Ensembl

Cellular Location

Nucleus. Colocalizes with the PRC2 complex on chromatin.