ATP13A2 Chromosome 1
ATPase cation transporting 13A2
Upload your DNA to see your personal genotypes for variants in ATP13A2.
What This Gene Does
This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinson disease 9. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2008]
Gene Info
Gene Group
ATPase orphan transporters
Locus Type
gene with protein product
Location
1p36.13
Ensembl
ENSG00000159363
Associated Conditions (13)
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Inborn genetic diseases
ATP13A2-related disorder
Gastric cancer
Sarcoma
Melanoma
Congenital cerebellar hypoplasia
ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis
Lung cancer
Colorectal cancer
Neurodegeneration with brain iron accumulation
See cases
Key Variants
RS112549590
Conflicting classifications of pathogenicity
Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78, Inborn genetic diseases
Health Risk
RS113643181
Conflicting classifications of pathogenicity
Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78, Inborn genetic diseases
Health Risk
RS115985012
Conflicting classifications of pathogenicity
Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78, Inborn genetic diseases
Health Risk
RS1293271804
Conflicting classifications of pathogenicity
Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome
Health Risk
RS138212767
Conflicting classifications of pathogenicity
Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome
Health Risk
RS138546275
Conflicting classifications of pathogenicity
Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78, ATP13A2-related disorder
Health Risk
RS140631323
Conflicting classifications of pathogenicity
Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome
Health Risk
RS142616130
Conflicting classifications of pathogenicity
Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78, Inborn genetic diseases
Health Risk
RS143834546
Conflicting classifications of pathogenicity
Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78, Inborn genetic diseases
Health Risk
RS144557304
Conflicting classifications of pathogenicity
Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78, Inborn genetic diseases
Health Risk
RS144708504
Conflicting classifications of pathogenicity
Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78, Inborn genetic diseases
Health Risk
RS145515028
Conflicting classifications of pathogenicity
Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78, Inborn genetic diseases
Health Risk
All Variants (172)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2523738513 | Health Risk | Pathogenic | Autosomal recessive spastic paraplegia type 78, Autosomal recessive spastic paraplegia type 78 |
| RS2523962293 | Health Risk | Pathogenic | Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78, ATP13A2-related disorder |
| RS2523972211 | Health Risk | Pathogenic | Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78 |
| RS2524203249 | Health Risk | Pathogenic | Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78 |
| RS2524336523 | Health Risk | Pathogenic | Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78 |
| RS373607247 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS587776890 | Health Risk | Pathogenic | Kufor-Rakeb syndrome, Kufor-Rakeb syndrome |
| RS587777053 | Health Risk | Pathogenic | Kufor-Rakeb syndrome, Kufor-Rakeb syndrome |
| RS747617559 | Health Risk | Pathogenic | Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78 |
| RS758150853 | Health Risk | Pathogenic | Inborn genetic diseases, Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78 |
| RS762033589 | Health Risk | Pathogenic | Kufor-Rakeb syndrome, Kufor-Rakeb syndrome |
| RS773246271 | Health Risk | Pathogenic | Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78, Inborn genetic diseases |
| RS774115028 | Health Risk | Pathogenic | Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78 |
| RS866035312 | Health Risk | Pathogenic | Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome |
| RS1057519292 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78 |
| RS121918227 | Health Risk | Pathogenic/Likely pathogenic | Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78, See cases |
| RS1264582344 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78 |
| RS2076949269 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78 |
| RS758014228 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome, Neurodegeneration with brain iron accumulation |
| RS765632065 | Health Risk | Pathogenic/Likely pathogenic | Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78, Neurodegeneration with brain iron accumulation |
| RS776448394 | Health Risk | Pathogenic/Likely pathogenic | Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome |
| RS786205056 | Health Risk | Pathogenic/Likely pathogenic | Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome |