ATP2A2 Antibody – Polyclonal

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]

SERCA2: an intracellular pump located in the sarcoplasmic or endoplasmic reticula of muscle cells. Possesses a Ca(2+)-ATPase activity. Catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in regulation of the contraction/relaxation cycle. Reversibly inhibited by phospholamban (PLN) at low calcium concentrations. Dephosphorylated PLN decreases the apparent affinity of the ATPase for calcium. This inhibition is regulated by the phosphorylation of PLN. Two alternatively spliced isoforms have been described.

Protein type: Transporter, ion channel; Membrane protein, multi-pass; Membrane protein, integral; EC 3.6.3.8; Endoplasmic reticulum; Transporter; Cell adhesion; Hydrolase

Chromosomal Location of Human Ortholog: 12q24.11

Cellular Component: endoplasmic reticulum; endoplasmic reticulum membrane; extrinsic to internal side of plasma membrane; integral to plasma membrane; membrane; perinuclear region of cytoplasm; protein complex; sarcoplasmic reticulum; sarcoplasmic reticulum membrane; vesicle membrane

Molecular Function: ATP binding; calcium ion binding; calcium-transporting ATPase activity; enzyme binding; lutropin-choriogonadotropic hormone receptor binding; protein binding; protein C-terminus binding

Biological Process: cell adhesion; cellular calcium ion homeostasis; elevation of endoplasmic reticulum calcium ion concentration; endoplasmic reticulum calcium ion homeostasis; epidermis development; ER-nuclear signaling pathway; metabolic process; negative regulation of heart contraction; organelle organization and biogenesis; positive regulation of heart rate; regulation of the force of heart contraction; response to peptide hormone stimulus; T-tubule organization and biogenesis; transition between fast and slow fiber

Disease: Acrokeratosis Verruciformis; Darier-white Disease