KEGG   VARIANT: 491v1
Entry
491v1                      Variant                                 
Name
ATP2B2 mutation
Type
Loss of function
Gene
ATP2B2  ATPase plasma membrane Ca2+ transporting 2 [KO:K05850]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 108733
Network
nt06528  Calcium signaling
Disease
H00604  Deafness, autosomal dominant
H00605  Deafness, autosomal recessive
Reference
  Authors
Smits JJ, Oostrik J, Beynon AJ, Kant SG, de Koning Gans PAM, Rotteveel LJC, Klein Wassink-Ruiter JS, Free RH, Maas SM, van de Kamp J, Merkus P, Koole W, Feenstra I, Admiraal RJC, Lanting CP, Schraders M, Yntema HG, Pennings RJE, Kremer H
  Title
De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.
  Journal
Hum Genet 138:61-72 (2019)
DOI:10.1007/s00439-018-1965-1
Reference
  Authors
Schultz JM, Yang Y, Caride AJ, Filoteo AG, Penheiter AR, Lagziel A, Morell RJ, Mohiddin SA, Fananapazir L, Madeo AC, Penniston JT, Griffith AJ
  Title
Modification of human hearing loss by plasma-membrane calcium pump PMCA2.
  Journal
N Engl J Med 352:1557-64 (2005)
DOI:10.1056/NEJMoa043899
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