Aliases for ATP2A2 Gene
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 muscle cells. 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. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2008]
GeneCards Summary for ATP2A2 Gene
ATP2A2 (ATPase, Ca++ Transporting, Cardiac Muscle, Slow Twitch 2) is a Protein Coding gene. Diseases associated with ATP2A2 include darier disease and acrokeratosis verruciformis. Among its related pathways are Signaling by GPCR and CREB Pathway. GO annotations related to this gene include calcium ion binding and enzyme binding. An important paralog of this gene is ATP2A1.
UniProtKB/Swiss-Prot 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.
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.