ATP13A2 (ATPase cation transporting 13A2)

2014-08-01  

Identity

HGNC
LOCATION
1p36.13
LOCUSID
ALIAS
CLN12,HSA9947,KRPPD,PARK9,SPG78
FUSION GENES

Other Information

Locus ID:

NCBI: 23400
MIM: 610513
HGNC: 30213
Ensembl: ENSG00000159363

Variants:

dbSNP: 23400
ClinVar: 23400
TCGA: ENSG00000159363
COSMIC: ATP13A2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000159363ENST00000326735Q9NQ11
ENSG00000159363ENST00000341676Q9NQ11
ENSG00000159363ENST00000452699Q9NQ11
ENSG00000159363ENST00000502418H0Y953
ENSG00000159363ENST00000503552H0Y8I1
ENSG00000159363ENST00000506174H0Y9K4
ENSG00000159363ENST00000508222H0Y8V5
ENSG00000159363ENST00000509619H0Y8Z6
ENSG00000159363ENST00000510069H0Y9K0
ENSG00000159363ENST00000511957H0YAI7
ENSG00000159363ENST00000617114A0A087WUM9

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Ion transport by P-type ATPasesREACTOMER-HSA-936837

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
226476022012Loss of P-type ATPase ATP13A2/PARK9 function induces general lysosomal deficiency and leads to Parkinson disease neurodegeneration.100
224420862012Deficiency of ATP13A2 leads to lysosomal dysfunction, α-synuclein accumulation, and neurotoxicity.91
174856422007ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease.86
174856422007ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease.86
246030742014Parkinson's disease-linked human PARK9/ATP13A2 maintains zinc homeostasis and promotes α-Synuclein externalization via exosomes.75
223889362012Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis.70
206693272010Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations.67
221860242012PARK9-associated ATP13A2 localizes to intracellular acidic vesicles and regulates cation homeostasis and neuronal integrity.55
217248492011Regulation of intracellular manganese homeostasis by Kufor-Rakeb syndrome-associated ATP13A2 protein.54
243347702014Zn²⁺ dyshomeostasis caused by loss of ATP13A2/PARK9 leads to lysosomal dysfunction and alpha-synuclein accumulation.52

Citation

Dessen P

ATP13A2 (ATPase cation transporting 13A2)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54139/atp13a2