ATP13A2

ATPase type 13A2
Identifiers
Symbols	ATP13A2; FLJ26510; HSA9947; KRPPD; PARK9
External IDs	OMIM: 610513 MGI: 1922022 HomoloGene: 56940 GeneCards: ATP13A2 Gene
Gene Ontology Molecular function • nucleotide binding • ATP binding • ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism • hydrolase activity • ATPase activity • metal ion binding Cellular component • membrane • integral to membrane Biological process • ATP biosynthetic process • cation transport Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	23400	74772
Ensembl	ENSG00000159363	ENSMUSG00000036622
UniProt	Q9NQ11	n/a
RefSeq (mRNA)	NM_001141973.1	NM_029097
RefSeq (protein)	NP_001135445.1	NP_083373
Location (UCSC)	Chr 1: 17.31 – 17.34 Mb	Chr 4: 140.54 – 140.56 Mb
PubMed search	[1]	[2]

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 (Sep 2004). "Characterization of the P5 subfamily of P-type transport ATPases in mice". Biochem Biophys Res Commun 323 (3): 731–8. doi:10.1016/j.bbrc.2004.08.156. PMID 15381061. 
2. ^ Ramirez A, Heimbach A, Grundemann 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 (Sep 2006). "Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase". Nat Genet 38 (10): 1184–91. doi:10.1038/ng1884. PMID 16964263. 
3. ^ "Entrez Gene: ATP13A2 ATPase type 13A2". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23400. 

Further reading

• Hampshire DJ, Roberts E, Crow Y et al. (2002). "Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36". J. Med. Genet. 38 (10): 680–2. doi:10.1136/jmg.38.10.680. PMC 1734748. PMID 11584046. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1734748. 
• Strausberg RL, Feingold EA, Grouse LH et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241. 
• Gerhard DS, Wagner L, Feingold EA et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928. 
• Gregory SG, Barlow KF, McLay KE et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature 441 (7091): 315–21. doi:10.1038/nature04727. PMID 16710414. 
• Di Fonzo A, Chien HF, Socal M et al. (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. 

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