Entrez Gene ID | 3720 |
---|---|
Official Gene Symbol | JARID2 (GeneCards) |
Full name | jumonji and AT-rich interaction domain containing 2 |
Location | 6p22.3 |
Other ids | Vega : OTTHUMG00000014293 MIM : 601594 HGNC : HGNC:6196 Ensembl : ENSG00000008083 |
Other names | JMJ |
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] |
Found 4 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
1397 | 3720 | JARID2 | 6 | 15374368 | 15374368 | Autism Spectrum Disorders | NextSeq500 v2 |
9766 | 3720 | JARID2 | 6 | 15503394 | 15503394 | Asymptomatic | NextSeq500 v2 HiSeq X Ten |
29235 | 3720 | JARID2 | 6 | 15374368 | 15374368 | Autism Spectrum Disorders | NextSeq500 v2 HiSeq X Ten PASM |
29563 | 3720 | JARID2 | 6 | 15374368 | 15374368 | Autism Spectrum Disorders | NextSeq500 v2 HiSeq X Ten PASM MiSeq |