|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
The official name of this gene is “ATPase, Ca++ transporting, plasma membrane 2.”
ATP2B2 is the gene's official symbol. The ATP2B2 gene is also known by other names, listed below.
The ATP2B2 gene provides instructions for making an enzyme called plasma membrane calcium-transporting ATPase 2 (PMCA2). This enzyme belongs to a family of ATPase enzymes that helps control the level of positively charged calcium atoms (calcium ions) inside cells. Calcium ions act as signals for a large number of activities that are important for the normal development and function of cells. PMCA2 appears to be important for regulating calcium ion levels in certain cells in the brain, spinal cord, liver, inner ear, and in the breast when milk is produced.
Researchers are interested in PMCA2's role in hearing because of its presence in the inner ear. Hearing requires the conversion of sound waves to nerve impulses that are transmitted via the auditory nerve to the brain. This conversion process occurs in specialized cells called hair cells and is triggered by a rapid change in the level of certain ions, including calcium ions. Studies indicate that PMCA2 exports calcium ions from hair cells and contributes to changes in ion levels that are needed for the conversion of sound waves to nerve impulses.
The ATP2B2 gene belongs to a family of genes called ATP (ATPases).
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.
Researchers have identified one variation in the ATP2B2 gene that appears to affect the severity of hearing loss. This variation changes one of the building blocks (amino acids) used to make the PMCA2 enzyme. Specifically, the amino acid valine is replaced with the amino acid methionine at position 586 in the enzyme (written as Val586Met). In a small number of people, researchers found that this particular variation occurs with mutations in another gene (called CDH23) that causes hearing loss. In these individuals, hearing loss is more severe than in people who have mutations in the CDH23 gene but lack the ATP2B2 gene variation. The Val586Met variation in the ATP2B2 gene might also modify hearing loss when it occurs with a mutation in another hearing loss gene called MYO6. Mutations in the CDH23 and MYO6 genes impair the conversion of sound waves to nerve impulses. It remains unclear how the variation in the ATP2B2 gene further impairs hearing loss.
Cytogenetic Location: 3p25.3
Molecular Location on chromosome 3: base pairs 10,324,022 to 10,707,992
The ATP2B2 gene is located on the short (p) arm of chromosome 3 at position 25.3.
More precisely, the ATP2B2 gene is located from base pair 10,324,022 to base pair 10,707,992 on chromosome 3.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about ATP2B2 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
acids ; amino acid ; auditory ; auditory nerve ; Ca ; calcium ; enzyme ; gene ; hair cells ; ions ; methionine ; mutation ; plasma ; plasma membrane ; valine
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
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 healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.