| Variant ID | 22011 |
|---|---|
| Entrez Gene ID | 186 |
| Gene | AGTR2 (GeneCards) |
| Location | hg19 X:115331617-115331617
hg38 X:116200364-116200364 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000023.10:g.115331617 G>A (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | 0.333337 (Deleterious) |
| FATHMM raw prediction score | 0.11793 (Tolerated) |
| Deleterious probability by DeFine | 0.0717 (Neutral) |
| Entrez Gene ID | 186 (NCBI Gene) |
|---|---|
| Official Gene Symbol | AGTR2 (GeneCards) |
| Number of variants in AGTR2 in this database | 4 (view all the variants) |
| Full name | angiotensin II receptor type 2 |
| Band | Xq23 |
| Other IDs | Vega: OTTHUMG00000022243 OMIM: 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] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |