ATP13A2

Probable cation-transporting ATPase 13A2 is an enzyme that in humans is encoded by the ATP13A2 gene that is involved in the transport of divalent transition metal cations.^[5][6][7] It appears to protect cells from manganese^[8] and zinc toxicity,^[9] possibly by causing cellular efflux and/or lysosomal sequestration; and from iron toxicity, possibly by preserving lysosome integrity against iron-induced lipid peroxidation.^[10] However, it potentiates the toxic effects of cadmium and nickel on developing neurites,^[11] and of the widely used herbicide paraquat^[12] possibly by increasing polyamine uptake.^[13]

ATP13A2
Identifiers
Aliases	ATP13A2, CLN12, HSA9947, KRPPD, PARK9, ATPase 13A2, SPG78, ATPase cation transporting 13A2
External IDs	OMIM: 610513; MGI: 1922022; HomoloGene: 56940; GeneCards: ATP13A2; OMA:ATP13A2 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p36.13 Start 16,985,958 bp[1] End 17,011,928 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4|4 D3 Start 140,714,184 bp[2] End 140,734,641 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right frontal lobe right hemisphere of cerebellum prefrontal cortex anterior cingulate cortex Pons Brodmann area 9 anterior pituitary Amygdala Hypothalamus nucleus accumbens Top expressed in external carotid artery internal carotid artery stroma of bone marrow dorsal tegmental nucleus perirhinal cortex neural layer of retina motor neuron entorhinal cortex superior colliculus superior frontal gyrus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding metal ion binding ATPase activity protein binding hydrolase activity ATP binding cupric ion binding phosphatidic acid binding zinc ion binding phosphatidylinositol-3,5-bisphosphate binding manganese ion binding P-type calcium transporter activity ATPase-coupled cation transmembrane transporter activity Cellular component integral component of membrane membrane vesicle membrane integral component of plasma membrane transport vesicle lysosomal lumen lysosome vesicle multivesicular body neuron projection integral component of lysosomal membrane multivesicular body membrane autophagosome late endosome soma lysosomal membrane Biological process cellular cation homeostasis cation transport ion transmembrane transport regulation of autophagy of mitochondrion regulation of autophagosome size regulation of endopeptidase activity regulation of mitochondrion organization cellular response to oxidative stress cellular calcium ion homeostasis cellular response to manganese ion cellular iron ion homeostasis protein autophosphorylation cellular zinc ion homeostasis autophagosome organization regulation of glucosylceramidase activity regulation of chaperone-mediated autophagy negative regulation of neuron death zinc ion homeostasis regulation of macroautophagy regulation of intracellular protein transport positive regulation of protein secretion positive regulation of exosomal secretion peptidyl-aspartic acid autophosphorylation negative regulation of lysosomal protein catabolic process cellular response to zinc ion calcium ion transmembrane transport regulation of lysosomal protein catabolic process extracellular exosome biogenesis polyamine transmembrane transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 23400 74772 Ensembl ENSG00000159363 ENSMUSG00000036622 UniProt Q9NQ11 Q8N4D4 Q9CTG6 RefSeq (mRNA) NM_001141973 NM_001141974 NM_022089 NM_001164366 NM_029097 NM_001379619 NM_001379620 NM_001379621 NM_001379622 RefSeq (protein) NP_001135445 NP_001135446 NP_071372 NP_001135445.1 NP_001135446.1 NP_001157838 NP_083373 NP_001366548 NP_001366549 NP_001366550 NP_001366551 Location (UCSC) Chr 1: 16.99 – 17.01 Mb Chr 4: 140.71 – 140.73 Mb PubMed search [3] [4]
Wikidata
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Deficiency is associated with spastic paraplegia and Kufor-Rakeb syndrome, in which there is progressive parkinsonism with dementia.^[14]