ATP2A1
Chr 16ARATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
Also known as: ATP2A, SERCA1
This gene encodes SERCA1, a calcium ATPase pump that translocates calcium from the cytosol into the sarcoplasmic reticulum lumen in muscle cells, which is essential for muscle relaxation after contraction. Biallelic mutations cause Brody myopathy, an autosomal recessive disorder characterized by progressive impairment of muscle relaxation during exercise. The gene shows relatively low constraint to loss-of-function variation (LOEUF 0.833), consistent with its recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ATP2A1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools