ATP13A2
Chr 1ARATPase cation transporting 13A2
Also known as: CLN12, HSA9947, KRPPD, PARK9, SPG78
This gene encodes a P5-type ATPase that transports inorganic cations and localizes to the lysosome membrane. Biallelic mutations cause Kufor-Rakeb syndrome (a juvenile-onset parkinsonism with pyramidal signs and dementia) and autosomal recessive spastic paraplegia 78. Mutations can cause disease through multiple mechanisms depending on the variant type, with the gene showing moderate constraint against loss-of-function variants.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ATP13A2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools