GENE NAME | ATP13A2 |
CHROMOSOME | 1 |
ENSEMBL ID | ENSG00000159363 |
ENTREZ ID | 23400 |
UNIPROT ACCESSION NUMBER | Q9NQ11 |
GO MOLECULAR FUNCTION | manganese ion binding; ATP hydrolysis activity; protein binding; cupric ion binding; phosphatidylinositol-3,5-bisphosphate binding; phosphatidic acid binding; ABC-type polyamine transporter activity; ATP binding; ATPase-coupled cation transmembrane transporter activity; zinc ion binding |
ESSENTIAL IN MOUSE | None |
PATHWAYS | R-HSA-983712; R-HSA-936837; R-HSA-382551 |
1 combination linked to ATP13A2 | OLI941 |
1 variant linked to ATP13A2 | ATP13A2:c.2219G>A, p.Arg740His |
1 disease linked to ATP13A2 | Amyotrophic lateral sclerosis |