KEGG   VARIANT: 488v1
Entry
488v1                      Variant                                 
Name
ATP2A2 mutation
Type
Loss of function
Gene
ATP2A2  ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 [KO:K05853]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 108740
Network
nt06528  Calcium signaling
nt06535  Efferocytosis
Disease
H00715  Darier disease
H00755  Acrokeratosis verruciformis
Reference
  Authors
Dhitavat J, Macfarlane S, Dode L, Leslie N, Sakuntabhai A, MacSween R, Saihan E, Hovnanian A
  Title
Acrokeratosis verruciformis of Hopf is caused by mutation in ATP2A2: evidence that it is allelic to Darier's disease.
  Journal
J Invest Dermatol 120:229-32 (2003)
DOI:10.1046/j.1523-1747.2003.t01-1-12045.x
Reference
  Authors
Nakajima K, Ishiwata M, Weitemier AZ, Shoji H, Monai H, Miyamoto H, Yamakawa K, Miyakawa T, McHugh TJ, Kato T
  Title
Brain-specific heterozygous loss-of-function of ATP2A2, endoplasmic reticulum Ca2+ pump responsible for Darier's disease, causes behavioral abnormalities and a  hyper-dopaminergic state.
  Journal
Hum Mol Genet 30:1762-1772 (2021)
DOI:10.1093/hmg/ddab137
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