ATP13A2

ATPase type 13A2
Identifiers
Symbols	ATP13A2 ; CLN12; HSA9947; KRPPD; PARK9
External IDs	OMIM: 610513 MGI: 1922022 HomoloGene: 56940 GeneCards: ATP13A2 Gene
EC number	3.6.3.8
Gene ontology Molecular function • protein binding • ATP binding • ATPase activity • metal ion binding Cellular component • lysosome • lysosomal membrane • vesicle membrane • integral component of membrane Biological process • cation transport • metabolic process • cellular response to manganese ion Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	23400	74772
Ensembl	ENSG00000159363	ENSMUSG00000036622
UniProt	Q9NQ11	Q9CTG6
RefSeq (mRNA)	NM_001141973	NM_001164366
RefSeq (protein)	NP_001135445	NP_001157838
Location (UCSC)	Chr 1: 16.99 – 17.01 Mb	Chr 4: 140.99 – 141.01 Mb
PubMed search

Probable cation-transporting ATPase 13A2 is an enzyme that in humans is encoded by the ATP13A2 gene.^[1][2][3]

References

1. Schultheis PJ, Hagen TT, O'Toole KK, Tachibana A, Burke CR, McGill DL, Okunade GW, Shull GE (Oct 2004). "Characterization of the P5 subfamily of P-type transport ATPases in mice". Biochemical and Biophysical Research Communications 323 (3): 731–8. doi:10.1016/j.bbrc.2004.08.156. PMID 15381061.
2. Ramirez A, Heimbach A, Gründemann J, Stiller B, Hampshire D, Cid LP, Goebel I, Mubaidin AF, Wriekat AL, Roeper J, Al-Din A, Hillmer AM, Karsak M, Liss B, Woods CG, Behrens MI, Kubisch C (Oct 2006). "Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase". Nature Genetics 38 (10): 1184–91. doi:10.1038/ng1884. PMID 16964263.
3. "Entrez Gene: ATP13A2 ATPase type 13A2".

Further reading

• Hampshire DJ, Roberts E, Crow Y, Bond J, Mubaidin A, Wriekat AL, Al-Din A, Woods CG (Oct 2001). "Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36". Journal of Medical Genetics 38 (10): 680–2. doi:10.1136/jmg.38.10.680. PMC 1734748. PMID 11584046.
• Di Fonzo A, Chien HF, Socal M, Giraudo S, Tassorelli C, Iliceto G, Fabbrini G, Marconi R, Fincati E, Abbruzzese G, Marini P, Squitieri F, Horstink MW, Montagna P, Libera AD, Stocchi F, Goldwurm S, Ferreira JJ, Meco G, Martignoni E, Lopiano L, Jardim LB, Oostra BA, Barbosa ER, Bonifati V (May 2007). "ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease". Neurology 68 (19): 1557–62. doi:10.1212/01.wnl.0000260963.08711.08. PMID 17485642.