AlphaFold predicted structure
JARID2 · Q92833
Mean pLDDT
61.9/ 100
Low
1,246 residues
Confidence breakdown
- Very high(≥ 90)32%
- Confident(70–90)15%
- Low(50–70)4%
- Very low(< 50)50%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
JARID2
Chr 6p22.3jumonji and AT-rich interaction domain containing 2
- MANE:
- ENST00000341776.7
Annotations refreshed 9 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disease associations (Open Targets)
developmental delay with variable intellectual disability and dysmorphic facies
0.73neurodevelopmental disorder
0.53hereditary disease
0.52neurodegenerative disease
0.46Intellectual disability
0.44hypertensive disorder
0.41self-injurious ideation
0.39type 2 diabetes mellitus
0.38complex neurodevelopmental disorder
0.37liver cancer
0.37
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Protein Jumonji
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)
Diseases associated with JARID2
Curated MONDO disease pages that list JARID2 among their top associated genes.