JARID2

Chr 6

jumonji and AT-rich interaction domain containing 2

Also known as: DIDDF, JMJ

NCBI Gene: 3720 ENSG00000008083 UniProt: Q92833

The JARID2 protein functions as a DNA-binding transcriptional repressor that recruits the Polycomb repressive complex 2 (PRC2) to target genes, playing essential roles in embryonic development including heart and liver development, neural tube fusion, and hematopoiesis. Mutations cause autosomal dominant developmental delay with variable intellectual disability and dysmorphic facies. This gene is highly constrained against loss-of-function variants (pLI 1.0, LOEUF 0.19), indicating that most loss-of-function mutations are likely pathogenic.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDevelopmental delay with variable intellectual disability and dysmorphic facies

Clinical highlights

Gene-disease validity (ClinGen)

developmental delay with variable intellectual disability and dysmorphic facies · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.19

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)

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