Normal Function
The ATP2A2 gene provides instructions for making an enzyme called sarco(endo)plasmic reticulum calcium-ATPase 2 (SERCA2). This enzyme belongs to a family of ATPase enzymes that helps control the level of positively charged calcium atoms (calcium ions) inside cells. SERCA2 is found in the endoplasmic reticulum inside the cell and in a related structure called the sarcoplasmic reticulum inside muscle cells. The endoplasmic reticulum is a structure that is involved in protein processing and transport. The sarcoplasmic reticulum assists with muscle contraction and relaxation by releasing and storing calcium ions. Calcium ions act as signals for a large number of activities that are important for the normal development and function of cells. SERCA2 allows calcium ions to pass into and out of the cell in response to cell signals.
Health Conditions Related to Genetic Changes
Darier disease
Over 100 variants (also called mutations) in the ATP2A2 gene have been found to cause Darier disease. This disorder is a skin condition characterized by wart-like blemishes on the body. Most of these variants change a single protein building block (amino acid) in the SERCA2 enzyme. The variants that cause Darier disease prevent cells from producing enough SERCA2, or they cause cells to produce nonfunctional versions of SERCA2. Cells with only one functional copy of the ATP2A2 gene produce half the normal amount of SERCA2 protein. It is thought that insufficient amounts of SERCA2 combined with outside factors such as heat and minor injuries cause the signs and symptoms of Darier disease.
More About This Health ConditionOther Names for This Gene
- AT2A2_HUMAN
- ATP2B
- ATPase, Ca++ dependent, slow-twitch, cardiac muscle-2
- ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
- calcium-transporting ATPase sarcoplasmic reticulum type, slow twitch skeletal muscle isoform
- sarcoplasmic reticulum Ca(2+)-ATPase 2
- sarcoplasmic/endoplasmic reticulum calcium ATPase 2
- SERCA2
- SR Ca(2+)-ATPase 2
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Amichai B, Karpati M, Goldman B, Peleg L. Novel mutations in two families with Darier's disease. Int J Dermatol. 2007 Jan;46(1):64-7. doi: 10.1111/j.1365-4632.2006.03049.x. Citation on PubMed
- Dhitavat J, Fairclough RJ, Hovnanian A, Burge SM. Calcium pumps and keratinocytes: lessons from Darier's disease and Hailey-Hailey disease. Br J Dermatol. 2004 May;150(5):821-8. doi: 10.1111/j.1365-2133.2004.05904.x. Citation on PubMed
- Miyauchi Y, Daiho T, Yamasaki K, Takahashi H, Ishida-Yamamoto A, Danko S, Suzuki H, Iizuka H. Comprehensive analysis of expression and function of 51 sarco(endo)plasmic reticulum Ca2+-ATPase mutants associated with Darier disease. J Biol Chem. 2006 Aug 11;281(32):22882-95. doi: 10.1074/jbc.M601966200. Epub 2006 Jun 9. Citation on PubMed
- Onozuka T, Sawamura D, Yokota K, Shimizu H. Mutational analysis of the ATP2A2 gene in two Darier disease families with intrafamilial variability. Br J Dermatol. 2004 Apr;150(4):652-7. doi: 10.1111/j.0007-0963.2004.05868.x. Citation on PubMed
- Ringpfeil F, Raus A, DiGiovanna JJ, Korge B, Harth W, Mazzanti C, Uitto J, Bale SJ, Richard G. Darier disease--novel mutations in ATP2A2 and genotype-phenotype correlation. Exp Dermatol. 2001 Feb;10(1):19-27. doi: 10.1034/j.1600-0625.2001.100103.x. Citation on PubMed
- Xintong Z, Kexin Z, Junwen W, Ziyi W, Na L, Hong G. Whole-exome sequencing enables rapid and prenatal diagnosis of inherited skin disorders. BMC Med Genomics. 2023 Aug 21;16(1):193. doi: 10.1186/s12920-023-01628-2. Citation on PubMed
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