ATP13A2
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | ATPase type 13A2 |
| EntrezGene | 23400 |
| PheGenI | 23400 |
| VariationViewer | 23400 |
| ClinVar | ATP13A2 |
| GeneCards | ATP13A2 |
| dbSNP | 23400 |
| Diseases | ATP13A2 |
| SADR | 23400 |
| HugeNav | 23400 |
| wikipedia | ATP13A2 |
| ATP13A2 | |
| gopubmed | ATP13A2 |
| EVS | ATP13A2 |
| HEFalMp | ATP13A2 |
| MyGene2 | ATP13A2 |
| 23andMe | ATP13A2 |
| UniProt | Q9NQ11 |
| Ensembl | ENSG00000159363 |
| OMIM | 610513 |
| # SNPs | 23 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs1057519289 | 7.8 | 16,986,346 | |
| rs1057519290 | 7.8 | 16,986,886 | |
| rs1057519291 | 7.8 | 16,993,828 | |
| rs1057519292 | 7.8 | 17,004,805 | |
| rs1057519293 | 7.8 | 16,996,262 | |
| rs121918227 | 8 | 16,996,008 | |
| rs137853967 | 0 | 16,986,864 | |
| rs137853968 | 0 | 16,986,615 | |
| rs144701072 | 8 | 16,988,455 | |
| rs150519745 | 0 | 17,000,107 | |
| rs151181674 | 0 | 16,986,334 | |
| rs199624796 | 8 | 17,004,399 | |
| rs2076600 | 0 | 17,010,896 | |
| rs2076602 | 0 | 16,996,703 | |
| rs2871776 | 0 | 17,001,806 | |
| rs3738814 | 0 | 17,005,181 | |
| rs3738815 | 0 | 16,988,207 | |
| rs4920608 | 0 | 16,992,792 | |
| rs587776890 | 8 | 16,989,747 | |
| rs587777053 | 8 | 16,989,739 | |
| rs749798211 | 8 | 17,004,818 | |
| rs762033589 | 8 | 16,997,112 | |
| rs786205056 | 8 | 16,996,381 |
The ATP13A2 gene on chromosome 1 encodes the ATPase 13A2 protein, an ion transporter enzyme.
Certain ATP13A2 mutations are considered causative for two different disorders:
- Kufor–Rakeb syndrome, a recessively inherited, juvenile-onset form of Parkinson's disease
- Spastic paraplegia, type 78, an adult-onset neurodegenerative disorder, also recessively inherited
