Aliases for ATP13A2 Gene
External Ids for ATP13A2 Gene
Previous HGNC Symbols for ATP13A2 Gene
Previous GeneCards Identifiers for ATP13A2 Gene
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]
GeneCards Summary for ATP13A2 Gene
ATP13A2 (ATPase Cation Transporting 13A2) is a Protein Coding gene. Diseases associated with ATP13A2 include Kufor-Rakeb Syndrome and Spastic Paraplegia 78, Autosomal Recessive. Among its related pathways are Cardiac conduction and Neuroscience. Gene Ontology (GO) annotations related to this gene include nucleotide binding and cation-transporting ATPase activity. An important paralog of this gene is ATP13A3.
UniProtKB/Swiss-Prot Summary for ATP13A2 Gene
ATPase that plays a role in intracellular cation homeostasis and the maintenance of neuronal integrity (PubMed:22186024). Required for a proper lysosomal and mitochondrial maintenance (PubMed:22296644, PubMed:28137957). Regulates the autophagy-lysosome pathway through the control of SYT11 expression at both transcriptional and post-translational levels (PubMed:27278822).