ATP13A1 (ATPase 13A1)

2014-11-01  

Identity

HGNC
LOCATION
19p13.11
LOCUSID
ALIAS
ATP13A,CGI-152
FUSION GENES

Other Information

Locus ID:

NCBI: 57130
HGNC: 24215
Ensembl: ENSG00000105726

Variants:

dbSNP: 57130
ClinVar: 57130
TCGA: ENSG00000105726
COSMIC: ATP13A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000105726ENST00000291503Q9HD20
ENSG00000105726ENST00000291503A0A024R7P3
ENSG00000105726ENST00000357324Q9HD20
ENSG00000105726ENST00000357324A0A024R7N2
ENSG00000105726ENST00000455627H7C3H2

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100

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
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11

Citation

Dessen P

ATP13A1 (ATPase 13A1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60610/atp13a1