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Genetics Home Reference: your guide to understanding genetic conditions
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ATP2B2

The information on this page was automatically extracted from online scientific databases.

What is the official name of the ATP2B2 gene?

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.

What is the normal function of the ATP2B2 gene?

From NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/491):

The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 2. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

From UniProt (AT2B2_HUMAN) (http://www.uniprot.org/uniprot/Q01814):

This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell.

How are changes in the ATP2B2 gene related to health conditions?

NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/491) lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the ATP2B2 gene.
  • Deafness, autosomal recessive 12
OMIM.org (http://omim.org/), a catalog designed for genetics professionals and researchers, provides the following information about the ATP2B2 gene and its association with health conditions.
OMIM
Number
Title

Where is the ATP2B2 gene located?

Cytogenetic Location: 3p25.3

Molecular Location on chromosome 3: base pairs 10,324,023 to 10,707,993

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/491))

The ATP2B2 gene is located on the short (p) arm of chromosome 3 at position 25.3.

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 10,324,023 to base pair 10,707,993 on chromosome 3.

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 ATP2B2?

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.

What other names do people use for the ATP2B2 gene or gene products?

  • PMCA2
  • PMCA2a
  • PMCA2i

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 ATP2B2?

alternative splicing ; ATP ; autosomal ; autosomal recessive ; calcium ; cell ; enzyme ; gene ; homeostasis ; hydrolysis ; intracellular ; ions ; ion transport ; isoforms ; phosphate ; plasma ; plasma membrane ; protein ; recessive ; splicing ; tissue ; transcript

You may find definitions for these and many other terms in the Genetics Home Reference 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.

 
Published: February 8, 2016