ATP13A2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | ATP13A2 |
| Official Name | ATPase cation transporting 13A2 [Source:HGNC Symbol;Acc:HGNC:30213] |
| Ensembl ID | ENSG00000159363 |
| Bio databases IDs | |
| Aliases | ATPase cation transporting 13A2 |
| Synonyms | 1110012E06Rik, Atp13a2 predicted, ATPase cation transporting 13A2, ATPase type 13A2, CLN12, HSA9947, KRPPD, PARK9, RGD1307977, SPG78 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ATP13A2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- phospholipid binding
- Cation transporter/ATPase, N-terminus
- cation-transporting ATPase
- heavy metal-(Cd/Co/Hg/Pb/Zn)-translocating P-type ATPase
- heavy metal translocating P-type ATPase
- protein binding
- E1-E2 ATPase
- P-type ATPase of unknown pump specificity (type V)
- copper-(or silver)-translocating P-type ATPase
- ATPase, P-type (transporting), HAD superfamily, subfamily IC
- phosphatidylinositol binding
- plasma-membrane calcium-translocating P-type ATPase
- copper ion binding
- binding protein
- zinc ion binding
- Na,H/K antiporter P-type ATPase alpha subunit
- polyamine transporter
- manganese ion binding
- Haloacid Dehalogenase-like Hydrolases
- transporter
- P5-type ATPase cation transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- lipofuscinosis
- autosomal recessive spastic paraplegia type 78
- Parkinson disease 9
- hereditary disorder
- gait disturbance
- neurodegeneration with brain iron accumulation
- familial Parkinson disease
- motor dysfunction
- colorectal cancer
role in cell
- expression in
- apoptosis
- release
- proliferation
- formation
- production in
- biogenesis
- cell death
- cell viability
- fusion
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cellular membrane
- vesicles
- lysosome
- vesicle membrane
- lysosome membrane
- lysosomal compartment
- endosomal membrane
- neurites
- autophagic vacuoles
- late endosomes
- transport vesicles
- multivesicular bodies
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ATP13A2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- transmembrane transport
- regulation of ubiquitin-specific protease activity
- lipid homeostasis
- ion transmembrane transport
- lysosomal transport
- cellular zinc ion homeostasis
- protein autophosphorylation
- regulation of neuron apoptotic process
- cellular calcium ion homeostasis
- cellular iron ion homeostasis
- cellular response to zinc ion
- positive regulation of gene expression
- autophagy
- cellular response to manganese ion
- regulation of macroautophagy
- cellular response to oxidative stress
- regulation of intracellular protein transport
- regulation of autophagic vacuole size
- positive regulation of protein secretion
- regulation of mitochondrion organization
- regulation of endopeptidase activity
- cellular cation homeostasis
- regulation of protein localization to nucleus
Cellular Component
Where in the cell the gene product is active
- late endosome
- lysosomal lumen
- neuronal cell body
- multivesicular body
- neuron projection
- lysosomal membrane
- autophagic vacuole membrane
- autophagic vacuole
- lysosome
- late endosome membrane
- membrane
- vesicle
- multivesicular body membrane
- transport vesicle
Molecular Function
What the gene product does at the molecular level
- polyamine transmembrane transporter activity
- ATPase activity
- ATP binding
- zinc ion binding
- ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism
- protein binding
- cation-transporting ATPase activity
- phosphatidylinositol-3,5-bisphosphate binding
- manganese ion binding
- phosphatidic acid binding
- polyamine-transporting ATPase activity