Aliases for ATP2A2 Gene
- ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 2 2 3 5
- Sarcoplasmic/Endoplasmic Reticulum Calcium ATPase 2 2 3 4
- Calcium Pump 2 2 3 4
- SERCA2 2 3 4
- Endoplasmic Reticulum Class 1/2 Ca(2+) ATPase 3 4
- SR Ca(2+)-ATPase 2 3 4
- ATP2B 3 4
- Calcium-Transporting ATPase Sarcoplasmic Reticulum Type, Slow Twitch Skeletal Muscle Isoform 4
- ATPase, Ca++ Transporting, Cardiac Muscle, Slow Twitch 2 2
External Ids for ATP2A2 Gene
Previous HGNC Symbols for ATP2A2 Gene
Previous GeneCards Identifiers for ATP2A2 Gene
This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of the skeletal muscle. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol into the sarcoplasmic reticulum lumen, and is involved in regulation of the contraction/relaxation cycle. Mutations in this gene cause Darier-White disease, also known as keratosis follicularis, an autosomal dominant skin disorder characterized by loss of adhesion between epidermal cells and abnormal keratinization. Other types of mutations in this gene have been associated with various forms of muscular dystrophies. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2019]
GeneCards Summary for ATP2A2 Gene
ATP2A2 (ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 2) is a Protein Coding gene. Diseases associated with ATP2A2 include Darier-White Disease and Acrokeratosis Verruciformis. Among its related pathways are Cardiac conduction and Pre-NOTCH Expression and Processing. Gene Ontology (GO) annotations related to this gene include calcium ion binding and enzyme binding. An important paralog of this gene is ATP2A1.
UniProtKB/Swiss-Prot Summary for ATP2A2 Gene
This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen. Isoform 2 is involved in the regulation of the contraction/relaxation cycle (PubMed:16402920). Acts as a regulator of TNFSF11-mediated Ca(2+) signaling pathways via its interaction with TMEM64 which is critical for the TNFSF11-induced CREB1 activation and mitochondrial ROS generation necessary for proper osteoclast generation. Association between TMEM64 and SERCA2 in the ER leads to cytosolic Ca (2+) spiking for activation of NFATC1 and production of mitochondrial ROS, thereby triggering Ca (2+) signaling cascades that promote osteoclast differentiation and activation (By similarity).
Ca2+-ATPases function to maintain a low cytoplasmic concentration of Ca2+ ions. They are high affinity, low capacitance transporters and complement the actions of the low affinity, high capacitance Na+/Ca2+ exchanger. Ca2+-ATPases are P-type ATPases.