Reviewed March 2008
What is the official name of the ATP2A2 gene?
The official name of this gene is “ATPase, Ca++ transporting, cardiac muscle, slow twitch 2.”
ATP2A2 is the gene's official symbol. The ATP2A2 gene is also known by other names, listed below.
What is the normal function of the ATP2A2 gene?
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. Within the cell, SERCA2 is found in the endoplasmic reticulum and a related structure in muscle cells called the sarcoplasmic reticulum. The endoplasmic reticulum is a structure inside the cell 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.
Does the ATP2A2 gene share characteristics with other genes?
The ATP2A2 gene belongs to a family of genes called ATP (ATPase superfamily).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
How are changes in the ATP2A2 gene related to health conditions?
- Darier disease - caused by mutations in the ATP2A2 gene
More than 130 mutations in the ATP2A2 gene have been found to cause Darier disease. Most of these mutations change a single protein building block (amino acid) in the SERCA2 enzyme. All mutations cause the production of a nonfunctional SERCA2 enzyme or cause no SERCA2 to be produced from one copy of the gene. 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 injury cause the signs and symptoms of Darier disease.
Where is the ATP2A2 gene located?
Cytogenetic Location: 12q24.11
Molecular Location on chromosome 12: base pairs 110,281,226 to 110,351,092
The ATP2A2 gene is located on the long (q) arm of chromosome 12 at position 24.11.
More precisely, the ATP2A2 gene is located from base pair 110,281,226 to base pair 110,351,092 on chromosome 12.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about ATP2A2?
You and your healthcare professional may find the following resources about ATP2A2 helpful.
Educational resources - Information pages
- Basic Neurochemistry (sixth edition, 1999): Calcium homeostasis (http://www.ncbi.nlm.nih.gov/books/NBK27906/figure/A346/)
- Biochemistry (fifith edition, 2002): Structure of SR CA2+ ATPase (http://www.ncbi.nlm.nih.gov/books/NBK22464/?rendertype=figure&id=A1781)
- Biochemistry (fifith edition, 2002): The Sarcoplasmic Reticulum Ca2+ ATPase Is an Integral Membrane Protein (http://www.ncbi.nlm.nih.gov/books/NBK22464/)
- Molecular Cell Biology (fourth edition,2000): Muscle Ca2+ ATPase Pumps Ca2+ Ions from the Cytosol into the Sarcoplasmic Reticulum (http://www.ncbi.nlm.nih.gov/books/NBK21481/)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for ATP2A2 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=488%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=((ATP2A2%5BTIAB%5D)%20OR%20(SERCA2%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201800%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/108740)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_ATP2A2.html)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=488)
- HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=812)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/488)
What other names do people use for the ATP2A2 gene or gene products?
- ATPase, Ca++ dependent, slow-twitch, cardiac muscle-2
- calcium-transporting ATPase sarcoplasmic reticulum type, slow twitch skeletal muscle isoform
- sarcoplasmic/endoplasmic reticulum calcium ATPase 2
- sarcoplasmic reticulum Ca(2+)-ATPase 2
- SR Ca(2+)-ATPase 2
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding ATP2A2?
amino acid ;
endoplasmic reticulum ;
muscle cells ;
sarcoplasmic reticulum ;
You may find definitions for these and many other terms in the Genetics Home Reference
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/17214724?dopt=Abstract)
- Basic Neurochemistry (sixth edition, 1999): ATP-Dependent Ca2+ Pumps (http://www.ncbi.nlm.nih.gov/books/NBK27906/)
- Biochemistry (fifith edition, 2002): Mechanism of P-Type ATPase Action (http://www.ncbi.nlm.nih.gov/books/NBK22464/?rendertype=figure&id=A1782)
- 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. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15149492?dopt=Abstract)
- 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. Epub 2006 Jun 9. (http://www.ncbi.nlm.nih.gov/pubmed/16766529?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/488)
- OMIM: ATPase, Ca(2+)-TRANSPORTING, SLOW-TWITCH (http://omim.org/entry/108740)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/15099360?dopt=Abstract)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/11168576?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.