Identity
HGNC
LOCATION
1p36.13
LOCUSID
ALIAS
CLN12,HSA9947,KRPPD,PARK9,SPG78
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 23400
MIM: 610513
HGNC: 30213
Ensembl: ENSG00000159363
Variants:
dbSNP: 23400
ClinVar: 23400
TCGA: ENSG00000159363
COSMIC: ATP13A2
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Transmembrane transport of small molecules | REACTOME | R-HSA-382551 |
| Ion channel transport | REACTOME | R-HSA-983712 |
| Ion transport by P-type ATPases | REACTOME | R-HSA-936837 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37080960 | 2023 | Parkinson's disease-associated ATP13A2/PARK9 functions as a lysosomal H(+),K(+)-ATPase. | 13 |
| 37243374 | 2023 | ATP13A2 activates the pentose phosphate pathway to promote colorectal cancer growth though TFEB-PGD axis. | 4 |
| 37080960 | 2023 | Parkinson's disease-associated ATP13A2/PARK9 functions as a lysosomal H(+),K(+)-ATPase. | 13 |
| 37243374 | 2023 | ATP13A2 activates the pentose phosphate pathway to promote colorectal cancer growth though TFEB-PGD axis. | 4 |
| 36445873 | 2022 | ATP13A2 modifies mitochondrial localization of overexpressed TOM20 to autolysosomal pathway. | 1 |
| 36445873 | 2022 | ATP13A2 modifies mitochondrial localization of overexpressed TOM20 to autolysosomal pathway. | 1 |
| 33091395 | 2021 | Novel mutations in ATP13A2 associated with mixed neurological presentations and iron toxicity due to nonsense-mediated decay. | 4 |
| 33799982 | 2021 | ATP13A2 Regulates Cellular α-Synuclein Multimerization, Membrane Association, and Externalization. | 10 |
| 34695705 | 2021 | Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy. | 2 |
| 34715013 | 2021 | Structural basis of polyamine transport by human ATP13A2 (PARK9). | 12 |
| 34715014 | 2021 | Structural mechanisms for gating and ion selectivity of the human polyamine transporter ATP13A2. | 11 |
| 34798056 | 2021 | Cryo-EM reveals mechanistic insights into lipid-facilitated polyamine export by human ATP13A2. | 13 |
| 34827672 | 2021 | Sgt1 Regulates α-Synuclein Subcellular Localization and Expression of Parkinson's Disease Related Genes, PINK1 and PARK9. | 2 |
| 33091395 | 2021 | Novel mutations in ATP13A2 associated with mixed neurological presentations and iron toxicity due to nonsense-mediated decay. | 4 |
| 33799982 | 2021 | ATP13A2 Regulates Cellular α-Synuclein Multimerization, Membrane Association, and Externalization. | 10 |
Citation
Dessen P
ATP13A2 (ATPase cation transporting 13A2)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54139/atp13a2-(atpase-cation-transporting-13a2)
