JARID2


Description

The JARID2 (jumonji and AT-rich interaction domain containing 2) is a protein-coding gene located on chromosome 6.

JARID2 is a protein encoded by the JARID2 gene in humans. It belongs to the alpha-ketoglutarate-dependent hydroxylase superfamily and functions as a putative transcription factor. JARID2 is a nuclear protein essential for mouse embryogenesis, containing a DNA binding domain known as the AT-rich interaction domain (ARID). In vitro studies indicate that ARID and other functional domains are involved in DNA binding, nuclear localization, transcriptional repression, and recruitment of Polycomb-repressive complex 2 (PRC2). JARID2 has been identified as an important factor necessary for organ development. During mouse organogenesis, JARID2 is involved in the formation of the neural tube and development of the liver, spleen, thymus, and cardiovascular system. Continuous JARID2 expression in heart tissues highlights its role in the development of both the embryonic and adult heart. Mutant models of JARID2 embryos display severe heart malformations, ventricular septal defects, noncompaction of the ventricular wall, and atrial enlargement.

JARID2 is a regulator of histone methyltransferase complexes that plays a vital role in embryonic development, including heart and liver development, neural tube fusion, and hematopoiesis. It acts as an accessory subunit for the core PRC2 (Polycomb repressive complex 2) complex, which mediates histone H3K27 trimethylation on chromatin. JARID2 binds DNA and mediates the recruitment of the PRC2 complex to target genes in embryonic stem cells, thus playing a crucial role in stem cell differentiation and normal embryonic development. In cardiac cells, JARID2 is required to repress expression of cyclin-D1 by activating methylation of 'Lys-9' of histone H3 by the GLP1/EHMT1 and G9a/EHMT2 histone methyltransferases. It also acts as a transcriptional repressor of ANF via its interaction with GATA4 and NKX2-5. JARID2 participates in the negative regulation of cell proliferation signaling. It does not possess histone demethylase activity.

JARID2 is also known as DIDDF, JMJ.

Associated Diseases



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