Details for Gene ATP13A2

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

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