ATP2A2 Chromosome 12

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
64 variants 64 Health Risk

Upload your DNA to see your personal genotypes for variants in ATP2A2.

What This Gene Does
This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of the skeletal muscle. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol into the sarcoplasmic reticulum lumen, and is involved in regulation of the contraction/relaxation cycle. Mutations in this gene cause Darier-White disease, also known as keratosis follicularis, an autosomal dominant skin disorder characterized by loss of adhesion between epidermal cells and abnormal keratinization. Other types of mutations in this gene have been associated with various forms of muscular dystrophies. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2019]
Gene Info
Gene Group
ATPases Ca2+ transporting
Locus Type
gene with protein product
Location
12q24.11
Ensembl
ENSG00000174437
Associated Conditions (8)
Keratosis follicularis
Inborn genetic diseases
Cervical cancer
Acrokeratosis verruciformis of Hopf
ATP2A2-related disorder
Darier disease
acral hemorrhagic type
segmental
Key Variants
RS141335001
Conflicting classifications of pathogenicity
Keratosis follicularis, Keratosis follicularis
Health Risk
RS142721178
Conflicting classifications of pathogenicity
Health Risk
RS149024535
Conflicting classifications of pathogenicity
Keratosis follicularis, Keratosis follicularis
Health Risk
RS193112984
Conflicting classifications of pathogenicity
Keratosis follicularis, Keratosis follicularis
Health Risk
RS199776454
Conflicting classifications of pathogenicity
Inborn genetic diseases, Cervical cancer, Inborn genetic diseases
Health Risk
RS763637617
Conflicting classifications of pathogenicity
Acrokeratosis verruciformis of Hopf, Acrokeratosis verruciformis of Hopf
Health Risk
RS766125552
Conflicting classifications of pathogenicity
Keratosis follicularis, Inborn genetic diseases, Keratosis follicularis
Health Risk
RS773326317
Conflicting classifications of pathogenicity
Keratosis follicularis, Inborn genetic diseases, Keratosis follicularis
Health Risk
RS1057518135
Likely pathogenic
Health Risk
RS1057518457
Likely pathogenic
Health Risk
RS1085307908
Likely pathogenic
Health Risk
RS1085307960
Likely pathogenic
Health Risk
All Variants (64)
RSID Category Clinical Significance Conditions
RS141335001 Health Risk Conflicting classifications of pathogenicity Keratosis follicularis, Keratosis follicularis
RS142721178 Health Risk Conflicting classifications of pathogenicity —
RS149024535 Health Risk Conflicting classifications of pathogenicity Keratosis follicularis, Keratosis follicularis
RS193112984 Health Risk Conflicting classifications of pathogenicity Keratosis follicularis, Keratosis follicularis
RS199776454 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cervical cancer, Inborn genetic diseases
RS763637617 Health Risk Conflicting classifications of pathogenicity Acrokeratosis verruciformis of Hopf, Acrokeratosis verruciformis of Hopf
RS766125552 Health Risk Conflicting classifications of pathogenicity Keratosis follicularis, Inborn genetic diseases, Keratosis follicularis
RS773326317 Health Risk Conflicting classifications of pathogenicity Keratosis follicularis, Inborn genetic diseases, Keratosis follicularis
RS1057518135 Health Risk Likely pathogenic —
RS1057518457 Health Risk Likely pathogenic —
RS1085307908 Health Risk Likely pathogenic —
RS1085307960 Health Risk Likely pathogenic —
RS1131691899 Health Risk Likely pathogenic —
RS1379900827 Health Risk Likely pathogenic —
RS1555282129 Health Risk Likely pathogenic —
RS1555284765 Health Risk Likely pathogenic —
RS1555285354 Health Risk Likely pathogenic —
RS1592839705 Health Risk Likely pathogenic Keratosis follicularis, Keratosis follicularis
RS1592864859 Health Risk Likely pathogenic Keratosis follicularis, Keratosis follicularis
RS1592868802 Health Risk Likely pathogenic —
RS1873370871 Health Risk Likely pathogenic Keratosis follicularis, Keratosis follicularis
RS1877402552 Health Risk Likely pathogenic —
RS2500176856 Health Risk Likely pathogenic —
RS2548535410 Health Risk Likely pathogenic —
RS2548550584 Health Risk Likely pathogenic —
RS2548553879 Health Risk Likely pathogenic Keratosis follicularis, Keratosis follicularis
RS2548561116 Health Risk Likely pathogenic ATP2A2-related disorder, ATP2A2-related disorder
RS2548563297 Health Risk Likely pathogenic ATP2A2-related disorder, ATP2A2-related disorder
RS2548564104 Health Risk Likely pathogenic —
RS2548565181 Health Risk Likely pathogenic —
RS1057520577 Health Risk Pathogenic —
RS1064793900 Health Risk Pathogenic —
RS121912731 Health Risk Pathogenic Keratosis follicularis, Keratosis follicularis
RS121912733 Health Risk Pathogenic Darier disease, acral hemorrhagic type, Darier disease
RS121912734 Health Risk Pathogenic Keratosis follicularis, Keratosis follicularis
RS121912735 Health Risk Pathogenic Darier disease, segmental, Darier disease
RS121912736 Health Risk Pathogenic Darier disease, segmental, Darier disease
RS121912737 Health Risk Pathogenic Acrokeratosis verruciformis of Hopf, Acrokeratosis verruciformis of Hopf
RS121912738 Health Risk Pathogenic Keratosis follicularis, Keratosis follicularis
RS1566240208 Health Risk Pathogenic Keratosis follicularis, Keratosis follicularis
RS1879161381 Health Risk Pathogenic —
RS1879429695 Health Risk Pathogenic —
RS1879537034 Health Risk Pathogenic —
RS2137673961 Health Risk Pathogenic Keratosis follicularis, Keratosis follicularis
RS2137720420 Health Risk Pathogenic —
RS2137856827 Health Risk Pathogenic Keratosis follicularis, Keratosis follicularis
RS2137870396 Health Risk Pathogenic ATP2A2-related disorder, ATP2A2-related disorder
RS2500176996 Health Risk Pathogenic —
RS2548535407 Health Risk Pathogenic —
RS2548550544 Health Risk Pathogenic —
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