JARID2 jumonji and AT-rich interaction domain containing 2
Gene ID: 3720, updated on 12-Sep-2024Gene type: protein coding
Also known as: JMJ; DIDDF
- See all available tests in GTR for this gene
- Go to complete Gene record for JARID2
- Go to Variation Viewer for JARID2 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Developmental delay with variable intellectual disability and dysmorphic facies | not available |
| Genetic variants and environmental factors associated with hormonal markers of ovarian reserve in Caucasian and African American women. GeneReviews: Not available | |
| Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. GeneReviews: Not available | |
| Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2024-06-11) ClinGen Genome Curation PageHaploinsufficency Some evidence for dosage pathogenicity (Last evaluated 2024-06-11) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 6p22.3
- Sequence:
- Chromosome: 6; NC_000006.12 (15246069..15522042)
- Total number of exons:
- 23
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for JARID2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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