ATP2A2

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ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
Identifiers
SymbolATP2A2
Alt. symbolsATP2B, DAR
NCBI gene488
HGNC812
OMIM108740
RefSeqNM_001681
UniProtP16615
Other data
EC number3.6.3.8
LocusChr. 12 q23-q24
Search for
StructuresSwiss-model
DomainsInterPro

ATP2A2 also known as sarcoplasmic/endoplasmic reticulum calcium ATPase 2 (SERCA2) is an ATPase associated with Darier's disease[1] and Acrokeratosis verruciformis.

This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells.[2] This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in calcium sequestration associated with muscular excitation and contraction. Alternative splicing results in multiple transcript variants encoding different isoforms.

References

  1. ^ Ren YQ, Gao M, Liang YH, Hou YX, Wang PG, Sun LD, Xu SX, Li W, Du WH, Zhou FS, Shen YJ, Yang S, Zhang XJ (July 2006). "Five mutations of ATP2A2 gene in Chinese patients with Darier's disease and a literature review of 86 cases reported in China". Archives of Dermatological Research. 298 (2): 58–63. doi:10.1007/s00403-006-0658-0. PMID 16552539. S2CID 31728235.
  2. ^ Entrez Gene: ATP2A2. ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2

External links