| Entrez Gene ID | 186 |
|---|---|
| Official Gene Symbol | AGTR2 (GeneCards) |
| Full name | angiotensin II receptor type 2 |
| Location | Xq23 |
| Other ids | Vega : OTTHUMG00000022243 MIM : 300034 HGNC : HGNC:338 Ensembl : ENSG00000180772 |
| Other names | AT2, ATGR2, MRX88 |
| Summary | The protein encoded by this gene belongs to the G-protein coupled receptor 1 family, and functions as a receptor for angiotensin II. It is an intergral membrane protein that is highly expressed in fetus, but scantily in adult tissues, except brain, adrenal medulla, and atretic ovary. This receptor has been shown to mediate programmed cell death and this apoptotic function may play an important role in developmental biology and pathophysiology. Mutations in this gene are been associated with X-linked cognitive disability. [provided by RefSeq, Jan 2010] |
Found 4 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 22011 | 186 | AGTR2 | X | 115331617 | 115331617 | Asymptomatic | HiSeq X Ten |
| 22046 | 186 | AGTR2 | X | 115350544 | 115350544 | Asymptomatic | HiSeq X Ten |
| 22297 | 186 | AGTR2 | X | 115395885 | 115395885 | Cockayne syndrome | HiSeq X Ten |
| 22345 | 186 | AGTR2 | X | 115312684 | 115312684 | Xeroderma Pigmentosum | HiSeq X Ten |