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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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ATP2A1
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
Chromosome 16 Β· 16p11.2
NCBI Gene: 487Ensembl: ENSG00000196296.15HGNC: HGNC:811UniProt: O14983
100PubMed Papers
21Diseases
1Drugs
69Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
Variant-Rich
CLINICAL
Clinical TrialsOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
response to endoplasmic reticulum stresspositive regulation of mitochondrial calcium ion concentrationmaintenance of mitochondrion locationintrinsic apoptotic signaling pathway in response to endoplasmic reticulum stressBrody myopathyAbnormality of the skeletal systemgenetic disorderobesity
✦AI Summary

ATP2A1 encodes SERCA1 (sarco/endoplasmic reticulum Ca2+ ATPase isoform 1), a critical regulator of skeletal muscle calcium homeostasis. SERCA1 actively transports calcium from the cytosol into the sarcoplasmic reticulum using ATP hydrolysis, a process essential for muscle relaxation following contraction 1. The pump is predominantly expressed in type II skeletal muscle fibers and plays a central role in maintaining appropriate calcium levels required for excitation-contraction coupling. Loss-of-function mutations in ATP2A1 cause autosomal recessive Brody myopathy, characterized by impaired muscle relaxation and exercise-induced muscle stiffness 1. In knockout mouse models, SERCA1 deficiency reduces calcium transport activity by ~80% and causes severe contractile dysfunction, particularly in the diaphragm, leading to neonatal respiratory failure 2. The critical importance of SERCA1 is further demonstrated by a bovine animal model carrying an ATP2A1 missense mutation (p.Arg164His) that phenocopies human Brody disease 3. Beyond skeletal muscle, emerging evidence suggests ATP2A1 has broader relevance. Mendelian randomization studies identified ATP2A1 as a potential therapeutic target for cognitive performance 4 and rheumatoid arthritis 5, though mechanisms remain unclear. Additionally, ATP2A1 expression alterations have been associated with breast cancer progression 6. These findings suggest ATP2A1 function extends beyond classical calcium regulation in muscle physiology.

Sources cited
1
ATP2A1 encodes SERCA1, which actively transports Ca2+ from cytosol to sarcoplasmic reticulum; mutations cause recessive Brody myopathy
PMID: 18193643
2
ATP2A1 knockout reduces Ca2+ transport activity by ~80% and causes severe diaphragm dysfunction and neonatal respiratory failure in mice
PMID: 12556521
3
ATP2A1 missense mutation (p.Arg164His) causes congenital pseudomyotonia in cattle, a model of human Brody disease
PMID: 18786632
4
ATP2A1 blood eQTL identified as candidate druggable gene causally associated with cognitive performance
PMID: 40562807
5
ATP2A1 identified as potential drug target for rheumatoid arthritis in Mendelian randomization analysis
PMID: 37697373
6
High ATP2A1 expression associated with reduced breast cancer patient survival
PMID: 34684111
Disease Associationsβ“˜21
Brody myopathyOpen Targets
0.78Strong
Abnormality of the skeletal systemOpen Targets
0.29Weak
genetic disorderOpen Targets
0.19Weak
obesityOpen Targets
0.16Weak
type 2 diabetes mellitusOpen Targets
0.16Weak
intelligenceOpen Targets
0.15Weak
smoking behaviorOpen Targets
0.15Weak
risk-taking behaviourOpen Targets
0.13Weak
hypogonadismOpen Targets
0.13Weak
schizophreniaOpen Targets
0.11Weak
bipolar disorderOpen Targets
0.11Weak
erysipelasOpen Targets
0.11Weak
glioblastoma multiformeOpen Targets
0.09Suggestive
overnutritionOpen Targets
0.09Suggestive
COVID-19Open Targets
0.09Suggestive
atrial fibrillationOpen Targets
0.08Suggestive
mathematical abilityOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
prostate cancerOpen Targets
0.08Suggestive
Brody diseaseUniProt
Pathogenic Variants69
NM_004320.6(ATP2A1):c.1184+1G>APathogenic
not provided|Brody myopathy|Familial cancer of breast
β˜…β˜…β˜†β˜†2026
NM_004320.6(ATP2A1):c.2464dup (p.Arg822fs)Pathogenic
Brody myopathy|not provided|ATP2A1-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 822
NM_004320.6(ATP2A1):c.490C>T (p.Arg164Ter)Pathogenic
Brody myopathy
β˜…β˜…β˜†β˜†2026β†’ Residue 164
NM_004320.6(ATP2A1):c.2574C>A (p.Tyr858Ter)Pathogenic
Brody myopathy
β˜…β˜…β˜†β˜†2026β†’ Residue 858
NM_004320.6(ATP2A1):c.2464del (p.Arg822fs)Pathogenic
Brody myopathy|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 822
NM_004320.6(ATP2A1):c.2758C>T (p.Gln920Ter)Pathogenic
not provided|Brody myopathy
β˜…β˜…β˜†β˜†2025β†’ Residue 920
NM_004320.6(ATP2A1):c.2574C>G (p.Tyr858Ter)Pathogenic
Brody myopathy
β˜…β˜…β˜†β˜†2025β†’ Residue 858
NM_004320.6(ATP2A1):c.324+1G>APathogenic
Brody myopathy
β˜…β˜…β˜†β˜†2025
NM_004320.6(ATP2A1):c.2025C>A (p.Cys675Ter)Pathogenic
Brody myopathy
β˜…β˜…β˜†β˜†2025β†’ Residue 675
NM_004320.6(ATP2A1):c.592del (p.Arg198fs)Pathogenic
Brody myopathy
β˜…β˜…β˜†β˜†2025β†’ Residue 198
NM_004320.6(ATP2A1):c.2311G>T (p.Glu771Ter)Pathogenic
Brody myopathy|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 771
NM_004320.6(ATP2A1):c.100G>T (p.Glu34Ter)Pathogenic
not provided|Brody myopathy|ATP2A1-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 34
NM_004320.6(ATP2A1):c.325-2A>TPathogenic
Brody myopathy|not provided
β˜…β˜…β˜†β˜†2025
NM_004320.6(ATP2A1):c.1717C>T (p.Arg573Ter)Pathogenic
Brody myopathy
β˜…β˜…β˜†β˜†2024β†’ Residue 573
NM_004320.6(ATP2A1):c.2744+1G>ALikely pathogenic
Brody myopathy
β˜…β˜…β˜†β˜†2024
NM_004320.6(ATP2A1):c.440del (p.Pro147fs)Pathogenic
Brody myopathy
β˜…β˜…β˜†β˜†2023β†’ Residue 147
NM_004320.6(ATP2A1):c.1764_1764+2delinsTGGLikely pathogenic
Brody myopathy
β˜…β˜…β˜†β˜†2023
NM_004320.6(ATP2A1):c.150G>A (p.Trp50Ter)Pathogenic
Brody myopathy
β˜…β˜…β˜†β˜†2023β†’ Residue 50
NM_004320.6(ATP2A1):c.2011C>T (p.Arg671Ter)Pathogenic
not provided|Brody myopathy
β˜…β˜…β˜†β˜†2023β†’ Residue 671
NM_004320.6(ATP2A1):c.1742_1743del (p.Ser581fs)Pathogenic
not provided|Brody myopathy|ATP2A1-related disorder
β˜…β˜…β˜†β˜†2023β†’ Residue 581
View on ClinVar β†—
Drug Targets1
MIPSAGARGINPhase II
Sarcoplasmic/endoplasmic reticulum calcium ATPase inhibitor
adenocarcinoma
Related Genes
TRDNProtein interaction99%MYH2Protein interaction99%MYL1Protein interaction99%MYH7Protein interaction96%HRCProtein interaction95%KAT5Protein interaction94%
Tissue Expression6 tissues
Lung
100%
Liver
97%
Ovary
75%
Brain
45%
Bone Marrow
20%
Heart
10%
Gene Interaction Network
Click a node to explore
ATP2A1TRDNMYH2MYL1MYH7HRCKAT5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O14983
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.88LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.73 [0.61–0.88]
RankingsWhere ATP2A1 stands among ~20K protein-coding genes
  • #4,765of 20,598
    Most Researched100 Β· top quartile
  • #1,054of 5,498
    Most Pathogenic Variants69 Β· top quartile
  • #7,835of 17,882
    Most Constrained (LOEUF)0.88
Genes detectedATP2A1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Identification of potential drug targets for rheumatoid arthritis from genetic insights: a Mendelian randomization study.
PMID: 37697373
J Transl Med Β· 2023
1.00
2
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
0.90
3
ATP2A2 regulates STING1/MITA-driven signal transduction including selective autophagy.
PMID: 40265346
Autophagy Β· 2025
0.80
4
SERCA pumps and human diseases.
PMID: 18193643
Subcell Biochem Β· 2007
0.70
5
Identification of a missense mutation in the bovine ATP2A1 gene in congenital pseudomyotonia of Chianina cattle: an animal model of human Brody disease.
PMID: 18786632
Genomics Β· 2008
0.60