ATP2A1 Chromosome 16

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1

81 variants 81 Health Risk

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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 muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in muscular excitation and contraction. Mutations in this gene cause some autosomal recessive forms of Brody disease, characterized by increasing impairment of muscular relaxation during exercise. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq, Oct 2013]

Gene Info

Gene Group

ATPases Ca2+ transporting

Locus Type

gene with protein product

Location

16p11.2

Ensembl

ENSG00000196296

Associated Conditions (4)

Brody myopathy

ATP2A1-related disorder

Inborn genetic diseases

Familial cancer of breast

Key Variants

RS1057522931

Conflicting classifications of pathogenicity

Brody myopathy, Brody myopathy

Health Risk

RS113803159

Conflicting classifications of pathogenicity

Brody myopathy, ATP2A1-related disorder, Brody myopathy

Health Risk

RS117350233

Conflicting classifications of pathogenicity

Brody myopathy, ATP2A1-related disorder, Brody myopathy

Health Risk

RS138565447

Conflicting classifications of pathogenicity

Brody myopathy, ATP2A1-related disorder, Brody myopathy

Health Risk

RS138880727

Conflicting classifications of pathogenicity

Brody myopathy, Brody myopathy

Health Risk

RS145043756

Conflicting classifications of pathogenicity

Brody myopathy, Brody myopathy

Health Risk

RS148925426

Conflicting classifications of pathogenicity

Brody myopathy, ATP2A1-related disorder, Brody myopathy

Health Risk

RS150068594

Conflicting classifications of pathogenicity

Brody myopathy, ATP2A1-related disorder, Brody myopathy

Health Risk

RS150721350

Conflicting classifications of pathogenicity

Brody myopathy, Inborn genetic diseases, ATP2A1-related disorder

Health Risk

RS186012808

Conflicting classifications of pathogenicity

Brody myopathy, Brody myopathy

Health Risk

RS199557273

Conflicting classifications of pathogenicity

Brody myopathy, Brody myopathy

Health Risk

RS200285714

Conflicting classifications of pathogenicity

Brody myopathy, Brody myopathy

Health Risk

All Variants (81)

RSID	Category	Clinical Significance	Conditions
RS1057522931	Health Risk	Conflicting classifications of pathogenicity	Brody myopathy, Brody myopathy
RS113803159	Health Risk	Conflicting classifications of pathogenicity	Brody myopathy, ATP2A1-related disorder, Brody myopathy
RS117350233	Health Risk	Conflicting classifications of pathogenicity	Brody myopathy, ATP2A1-related disorder, Brody myopathy
RS138565447	Health Risk	Conflicting classifications of pathogenicity	Brody myopathy, ATP2A1-related disorder, Brody myopathy
RS138880727	Health Risk	Conflicting classifications of pathogenicity	Brody myopathy, Brody myopathy
RS145043756	Health Risk	Conflicting classifications of pathogenicity	Brody myopathy, Brody myopathy
RS148925426	Health Risk	Conflicting classifications of pathogenicity	Brody myopathy, ATP2A1-related disorder, Brody myopathy
RS150068594	Health Risk	Conflicting classifications of pathogenicity	Brody myopathy, ATP2A1-related disorder, Brody myopathy
RS150721350	Health Risk	Conflicting classifications of pathogenicity	Brody myopathy, Inborn genetic diseases, ATP2A1-related disorder
RS186012808	Health Risk	Conflicting classifications of pathogenicity	Brody myopathy, Brody myopathy
RS199557273	Health Risk	Conflicting classifications of pathogenicity	Brody myopathy, Brody myopathy
RS200285714	Health Risk	Conflicting classifications of pathogenicity	Brody myopathy, Brody myopathy
RS200531611	Health Risk	Conflicting classifications of pathogenicity	Brody myopathy, Brody myopathy
RS369161791	Health Risk	Conflicting classifications of pathogenicity	Brody myopathy, Brody myopathy
RS375336581	Health Risk	Conflicting classifications of pathogenicity	Brody myopathy, Brody myopathy
RS376915313	Health Risk	Conflicting classifications of pathogenicity	Brody myopathy, ATP2A1-related disorder, Brody myopathy
RS41292388	Health Risk	Conflicting classifications of pathogenicity	Brody myopathy, ATP2A1-related disorder, Brody myopathy
RS7192781	Health Risk	Conflicting classifications of pathogenicity	Brody myopathy, Brody myopathy
RS746779770	Health Risk	Conflicting classifications of pathogenicity	Brody myopathy, Inborn genetic diseases, Brody myopathy
RS749931257	Health Risk	Conflicting classifications of pathogenicity	Brody myopathy, Brody myopathy
RS750195772	Health Risk	Conflicting classifications of pathogenicity	Brody myopathy, Brody myopathy
RS753865718	Health Risk	Conflicting classifications of pathogenicity	Brody myopathy, Brody myopathy
RS754620899	Health Risk	Conflicting classifications of pathogenicity	Brody myopathy, Brody myopathy
RS757274362	Health Risk	Conflicting classifications of pathogenicity	Brody myopathy, Brody myopathy
RS771772555	Health Risk	Conflicting classifications of pathogenicity	Brody myopathy, Inborn genetic diseases, Brody myopathy
RS773807881	Health Risk	Conflicting classifications of pathogenicity	Brody myopathy, Brody myopathy
RS780795453	Health Risk	Conflicting classifications of pathogenicity	Brody myopathy, Brody myopathy
RS781369773	Health Risk	Conflicting classifications of pathogenicity	Brody myopathy, Brody myopathy
RS886051878	Health Risk	Conflicting classifications of pathogenicity	Brody myopathy, Brody myopathy
RS111266804	Health Risk	Likely pathogenic	Brody myopathy, Brody myopathy
RS121918115	Health Risk	Likely pathogenic	Brody myopathy, Brody myopathy
RS1389370558	Health Risk	Likely pathogenic	Brody myopathy, Brody myopathy
RS1596682330	Health Risk	Likely pathogenic	Brody myopathy, Brody myopathy
RS1964095605	Health Risk	Likely pathogenic	Brody myopathy, ATP2A1-related disorder, Brody myopathy
RS1964105013	Health Risk	Likely pathogenic	Brody myopathy, Brody myopathy
RS2152204111	Health Risk	Likely pathogenic	Brody myopathy, Brody myopathy
RS2152215136	Health Risk	Likely pathogenic	Brody myopathy, Brody myopathy
RS2506359056	Health Risk	Likely pathogenic	Brody myopathy, Brody myopathy
RS760995377	Health Risk	Likely pathogenic	Brody myopathy, Brody myopathy
RS992119026	Health Risk	Likely pathogenic	Brody myopathy, Brody myopathy, Brody myopathy
RS1024976181	Health Risk	Pathogenic	Brody myopathy, Brody myopathy
RS1187948767	Health Risk	Pathogenic	Brody myopathy, Brody myopathy
RS121918113	Health Risk	Pathogenic	Brody myopathy, Brody myopathy
RS121918114	Health Risk	Pathogenic	Brody myopathy, Brody myopathy
RS1409892710	Health Risk	Pathogenic	Brody myopathy, Brody myopathy
RS141559558	Health Risk	Pathogenic	Brody myopathy, ATP2A1-related disorder, Brody myopathy
RS1421005631	Health Risk	Pathogenic	Brody myopathy, ATP2A1-related disorder, Brody myopathy
RS1433893346	Health Risk	Pathogenic	Brody myopathy, Brody myopathy
RS1555515558	Health Risk	Pathogenic	Brody myopathy, Brody myopathy
RS1963393226	Health Risk	Pathogenic	Brody myopathy, Brody myopathy

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