| Gene Symbol |
ATP2A2
|
| Gene Synonyms |
9530097L16Rik ATP2 ATP2B D5Wsu150e DAR DD mKIAA4195 RHABDO2 SERCA2 SERCA2A SERCA2B SercaII |
| Gene Full Name |
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 |
| Gene Summary |
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] |
| Alternative Names |
ATPase Ca++ transporting cardiac muscle slow twitch 2 ATPase Ca++ dependent slow-twitch cardiac muscle-2 ATPase Ca++ transporting cardiac muscle slow twitch 2 ATPase Ca++ transporting slow twitch 2 Ca(2+)-transport ATPase class 3 calcium ATPase calcium pump 2 calcium-ATPase (EC 3.6.1.3) calcium-transporting ATPase sarcoplasmic reticulum type slow twitch skeletal muscle isoform cardiac Ca2+ ATPase endoplasmic reticulum class 1/2 Ca(2+) ATPase HK1 HK2 non-muscle ATPase sarco(endo)plasmic reticulum Ca(2+)-dependent ATPase 2 sarco/endoplasmic reticulum Ca2+-ATPase 2 sarcoplasmic/endoplasmic-reticulum Ca(2+) pump gene 2 SERCA SERCA ATPase SERCA-2b class 2 SERCA2 SR Ca(2+)-ATPase 2 |
| Molecular Weight(MW) |
115 kDa |
| Cellular Localization |
Endoplasmic reticulum, Membrane, Sarcoplasmic reticulum |