ATP13A2

ATP13A2
Identifiers
AliasesATP13A2, CLN12, HSA9947, KRPPD, PARK9, ATPase 13A2, SPG78
External IDsMGI: 1922022 HomoloGene: 56940 GeneCards: ATP13A2
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

23400

74772

Ensembl

ENSG00000159363

ENSMUSG00000036622

UniProt

Q9NQ11
Q8N4D4

Q9CTG6

RefSeq (mRNA)

NM_001141973
NM_001141974
NM_022089

NM_001164366
NM_029097

RefSeq (protein)

NP_001135445
NP_001135446
NP_071372
NP_001135445.1
NP_001135446.1

NP_001157838
NP_083373

Location (UCSC)Chr 1: 16.99 – 17.01 MbChr 4: 140.99 – 141.01 Mb
PubMed search[1][2]
Wikidata
View/Edit HumanView/Edit Mouse

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.[3][4][5] It appears to protect cells from manganese[6] and zinc toxicity,[7] possibly by causing cellular efflux and/or lysosomal sequestration. However, it potentiates the toxic effects of cadmium and nickel on developing neurites.[8]

Deficiency is associated with spastic paraplegia and Kufor-Rakeb syndrome, in which there is progressive parkinsonism with dementia.[9]

References

  1. ↑ "Human PubMed Reference:".
  2. ↑ "Mouse PubMed Reference:".
  3. ↑ Schultheis PJ, Hagen TT, O'Toole KK, Tachibana A, Burke CR, McGill DL, Okunade GW, Shull GE (October 2004). "Characterization of the P5 subfamily of P-type transport ATPases in mice". Biochemical and Biophysical Research Communications. 323 (3): 731–8. PMID 15381061. doi:10.1016/j.bbrc.2004.08.156.
  4. ↑ 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 (October 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. PMID 16964263. doi:10.1038/ng1884.
  5. ↑ "Entrez Gene: ATP13A2 ATPase type 13A2".
  6. ↑ Tan J, Zhang T, Jiang L, Chi J, Hu D, Pan Q, Wang D, Zhang Z (August 2011). "Regulation of intracellular manganese homeostasis by Kufor-Rakeb syndrome-associated ATP13A2 protein". The Journal of Biological Chemistry. 286 (34): 29654–62. PMC 3191006 Freely accessible. PMID 21724849. doi:10.1074/jbc.M111.233874.
  7. ↑ Tsunemi T, Krainc D (June 2014). "Zn²⁺ dyshomeostasis caused by loss of ATP13A2/PARK9 leads to lysosomal dysfunction and alpha-synuclein accumulation". Human Molecular Genetics. 23 (11): 2791–801. PMC 4014186 Freely accessible. PMID 24334770. doi:10.1093/hmg/ddt572.
  8. ↑ Podhajska A, Musso A, Trancikova A, Stafa K, Moser R, Sonnay S, Glauser L, Moore DJ (2012-06-29). "Common pathogenic effects of missense mutations in the P-type ATPase ATP13A2 (PARK9) associated with early-onset parkinsonism". PloS One. 7 (6): e39942. PMC 3386943 Freely accessible. PMID 22768177. doi:10.1371/journal.pone.0039942.
  9. ↑ "OMIM Entry 610513 - ATPase, TYPE 13A2; ATP13A2". OMIM. Retrieved 2017-04-15.

Further reading


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