JARID2

The ARID domain is required to target the PRC2 complex to its target genes.

The GSGFP motif is required for the interaction with SUZ12.

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).

Developmental delay with variable intellectual disability and dysmorphic facies

DIDDF

An autosomal dominant disorder characterized by various degrees of developmental delay, mild to moderate intellectual disability, learning difficulties, hypotonia, autistic features, behavior abnormalities, and dysmorphic facial features apparent from infancy or early childhood.

None

The disease is caused by variants affecting the gene represented in this entry.

During embryogenesis, predominantly expressed in neurons and particularly in dorsal root ganglion cells.

• Nucleus
• Colocalizes with the PRC2 complex on chromatin.

JMJ, JARID2, Protein Jumonji, Jumonji/ARID domain-containing protein 2

• entrezGene:3720
• omim:601594
• swissprot:Q92833

Proteins

Epigenetics

138734Da