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Gene : ATP2A2 Homo sapiens

Name  ? ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 Cytological Location  12q24.11
Brief Description  ATPase sarcoplasmic/endoplasmic reticulum Ca2 transporting 2
Description  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]
  • synonyms:
  • DAR,
  • OTTHUMG00000169327,
  • ATPase, Ca++ transporting, cardiac muscle, slow twitch 2,
  • DAR,
  • HGNC:812,
  • calcium pump 2,
  • ATP2B,
  • SERCA2,
  • SERCA2,
  • ATP2A2,
  • DD,
  • ATP2B,
  • NM_001681,
  • sarcoplasmic/endoplasmic reticulum calcium ATPase 2,
  • uc001tqk.5
  • identifiers:
  • 488,
  • ENSG00000174437,
  • ATP2A2

Genome feature

Region: gene ? Length: 69847  
Location: 12:110281247-110351093 Cyto location: 12q24.11


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Disease

2 Diseases

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3753 SN Ps

5 Cross References

20 Data Sets

7 Homologues

0 Located Features

97 Rna Seq Results