Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Plasma membrane calcium-transporting ATPase 2

The ATP2B2 gene encodes a calcium tranport protein wich is important for calcium homeostasis. Mutations modify autosomal recessive deafness 12.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Autosomal recesive deafness 12
ATP2B2
CDH23

References:

1.

Brandt P et. al. (1992) Determination of the nucleotide sequence and chromosomal localization of the ATP2B2 gene encoding human Ca(2+)-pumping ATPase isoform PMCA2.

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2.

Brandt P et. al. (1992) Analysis of the tissue-specific distribution of mRNAs encoding the plasma membrane calcium-pumping ATPases and characterization of an alternately spliced form of PMCA4 at the cDNA and genomic levels.

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3.

Wang MG et. al. (1994) Localization of two genes encoding plasma membrane Ca2+ ATPases isoforms 2 (ATP2B2) and 3 (ATP2B3) to human chromosomes 3p26-->p25 and Xq28, respectively.

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4.

Richards FM et al. (1993) Mapping the Von Hippel-Lindau disease tumour suppressor gene: identification of germline deletions by pulsed field gel electrophoresis.

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5.

Santiago-García J et. al. (1996) Analysis of mRNA expression and cloning of a novel plasma membrane Ca(2+)-ATPase splice variant in human heart.

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6.

Elwess NL et. al. (1997) Plasma membrane Ca2+ pump isoforms 2a and 2b are unusually responsive to calmodulin and Ca2+.

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7.

Kozel PJ et. al. (1998) Balance and hearing deficits in mice with a null mutation in the gene encoding plasma membrane Ca2+-ATPase isoform 2.

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8.

Street VA et. al. (1998) Mutations in a plasma membrane Ca2+-ATPase gene cause deafness in deafwaddler mice.

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9.

DeMarco SJ et. al. (2002) Plasma membrane Ca2+ ATPase isoform 2b interacts preferentially with Na+/H+ exchanger regulatory factor 2 in apical plasma membranes.

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10.

Chicka MC et. al. (2003) Alternative splicing of the first intracellular loop of plasma membrane Ca2+-ATPase isoform 2 alters its membrane targeting.

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11.

Reinhardt TA et. al. (2004) Null mutation in the gene encoding plasma membrane Ca2+-ATPase isoform 2 impairs calcium transport into milk.

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12.

Schultz JM et. al. (2005) Modification of human hearing loss by plasma-membrane calcium pump PMCA2.

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13.

Bortolozzi M et. al. (2010) The novel PMCA2 pump mutation Tommy impairs cytosolic calcium clearance in hair cells and links to deafness in mice.

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14.

Lek M et. al. (2016) Analysis of protein-coding genetic variation in 60,706 humans.

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Update: Sept. 26, 2018