ATP2A2, Official Symbol ATP2A2provided by HGNC Official Full Name ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2provided by HGNC Primary source HGNC:HGNC:812 See related Ensembl:ENSG00000174437 MIM:108740; AllianceGenome:HGNC:812 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DD; DAR; ATP2B; SERCA2 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] Expression Broad expression in heart (RPKM 220.5), esophagus (RPKM 62.0) and 24 other tissues See more Orthologs mouse all