JARID2 |
- 0
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- JARID2 (HGNC:6196) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- jumonji and AT-rich interaction domain containing 2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- JMJ
- Alias symbols
- No aliases found
- %HI
- 12.14(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.19(Read more about gnomAD LOEUF score)
- Cytoband
- 6p22.3
- Genomic Coordinates
-
GRCh37/hg19: chr6:15246300-15522273 NCBI Ensembl UCSC GRCh38/hg38: chr6:15246069-15522042 NCBI Ensembl UCSC - MANE Select Transcript
- NM_004973.4 ENST00000341776.7 (Read more about MANE Select)
- Function
- 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 embryo... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-7235
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency
(0)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
11/07/2013
Haploinsufficiency (HI) Score Details
HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency
(Disclaimer)
HI Evidence Comments:
There are no reports of focal deletions or intragenic loss-of-function mutations. However, several patients with non-focal deletions have been reported and JARID2 is considered a candidate gene for the neurodevelopmental phenotype seen in these patients. Baroy et al (2013, PMID: 23294540) describe 5 unrelated patients with de novo deletions of 6p22.3-24.1 and suggest existence of two distinct dosage sensitive genes is this region (JARID2 and ATXN1) responsible for neurodevelopmental phenotype. JARID2, deleted in 4/5 patients, was suggested as a candidate on the basis of it's function as a histone methyltransferase gene in the Notch signalling pathway and the known association of haploinsufficiency neurodevelopmental disorders in other such genes. Furthermore RNA expression that JARID2 expression level was significantly decreased in these four patients. However, JARID2 was not included in one patient's deletion from this series. See also Di Benedetto et al. (2013, PMID: 23324214) for review of reported cases.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000006.11)
(NC_000006.12)