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:
Related Diseases:
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. |
Lek M et al. (2016) Analysis of protein-coding genetic variation in 60,706 humans.
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3. |
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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4. |
Schultz JM et al. (2005) Modification of human hearing loss by plasma-membrane calcium pump PMCA2.
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5. |
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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6. |
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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7. |
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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8. |
Street VA et al. (1998) Mutations in a plasma membrane Ca2+-ATPase gene cause deafness in deafwaddler mice.
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9. |
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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10. |
Elwess NL et al. (1997) Plasma membrane Ca2+ pump isoforms 2a and 2b are unusually responsive to calmodulin and Ca2+.
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11. |
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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12. |
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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13. |
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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14. |
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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15. |
Orphanet article
Orphanet ID 447183
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16. |
NCBI article
NCBI 491
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17. |
OMIM.ORG article
Omim 108733
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18. |
Wikipedia article
Wikipedia EN (ATP2B2)
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Update: Aug. 14, 2020