KEGG VARIANT: 492v1

VARIANT: 492v1

Entry

492v1                      Variant

Name

ATP2B3 mutation

Type

Loss of function

Gene

ATP2B3 ATPase plasma membrane Ca2+ transporting 3 [KO:K05850]

Organism

hsa_var Human gene variants (Homo sapiens)

Variation

mutation L425_V426del
ClinVar: 162469
dbSNP: rs724160011

Variation

mutation V426_V427del
ClinVar: 162470
dbSNP: rs724160012

Network

nt06316 Renin-angiotensin-aldosterone signaling
nt06528 Calcium signaling

Disease

H00063

Spinocerebellar ataxia (SCA)

H01603

Primary aldosteronism

Reference

PMID:23416519

Authors

Beuschlein F, Boulkroun S, Osswald A, Wieland T, Nielsen HN, Lichtenauer UD, Penton D, Schack VR, Amar L, Fischer E, Walther A, Tauber P, Schwarzmayr T, Diener S, Graf E, Allolio B, Samson-Couterie B, Benecke A, Quinkler M, Fallo F, Plouin PF, Mantero F, Meitinger T, Mulatero P, Jeunemaitre X, Warth R, Vilsen B, Zennaro MC, Strom TM, Reincke M

Title

Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension.

Journal

Nat Genet 45:440-4, 444e1-2 (2013)
DOI:10.1038/ng.2550

LinkDB

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