Aliases for ATP2A2 Gene
- ATPase, Ca++ Transporting, Cardiac Muscle, Slow Twitch 2 2 3
- Calcium Pump 2 2 3 4
- ATP2B 3 4 6
- Calcium-Transporting ATPase Sarcoplasmic Reticulum Type, Slow Twitch Skeletal Muscle Isoform 3 4
- Sarcoplasmic/Endoplasmic Reticulum Calcium ATPase 2 2 3
- Endoplasmic Reticulum Class 1/2 Ca(2+) ATPase 3 4
- SR Ca(2+)-ATPase 2 3 4
- EC 184.108.40.206 4 63
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 acrokeratosis verruciformis and darier disease. Among its related pathways are Signaling by GPCR and CREB Pathway. GO annotations related to this gene include enzyme binding and calcium-transporting ATPase activity. 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 conentration of Ca2+ ions. They are high affinity, low capacitance transporters and compliment the actions of the low affinity, high capacitance Na+/Ca2+ exchanger. Ca2+-ATPases are P-type ATPases and there are two varients; a plasma membrane-bound Ca2+-ATPase (PMCA) and a sacroplasmic reticulum Ca2+-ATPase (SERCA). PMCA exists as a dimer within the plasma membrane of a wide variety of cell types and, using the energy released from ATP hydrolysis, transports Ca2+ ions out of the cell against the concentration gradient. SERCA is located in the sarcoplasmic reticulum (SR) of muscle cells and transports Ca2+ ions from the cytoplasm into the SR lumen during muscle relaxation. PMCA transports one Ca2+ ion per ATP molecule hydrolyzed, whilst SERCA can transport two. PMCAs are regulated by calmodulin and the phospholipid composition of the surrounding plasma membrane. Furthermore, PMCA can be phosphorylated by PKA, PKC, Src and FAK at specific residues to influence activity. So far, only one human pathology has been linked to PMCA defects; deafness. However, SERCA defects have been implicated in a wide array of pathologies including heart failure, sperm motility defects, cataract formation, carcinogenesis, diabetes, and cardiac hypertension and hypertrophy.