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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ATP2A2
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
Chromosome 12 Β· 12q24.11
NCBI Gene: 488Ensembl: ENSG00000174437.19HGNC: HGNC:812UniProt: A0A0S2Z3L2
455PubMed Papers
23Diseases
2Drugs
92Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTransporter
RESEARCH IMPACT
Highly StudiedTrendingVariant-Rich
CLINICAL
Clinical TrialsOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
sarcoplasmic reticulumcalcium ion transmembrane transportregulation of cardiac muscle cell membrane potentialendoplasmic reticulum calcium ion homeostasisDarier diseaseacrokeratosis verruciformisneurodegenerative diseaseschizophrenia
✦AI Summary

ATP2A2 encodes SERCA2, a sarcoplasmic/endoplasmic reticulum Ca2+-ATPase that actively transports calcium from the cytosol into the ER lumen, maintaining intracellular calcium homeostasis 1. Beyond basic calcium handling, ATP2A2 regulates diverse cellular processes: it mediates mitochondria-ER contact through interaction with MFN2 to support mitochondrial metabolism in CD8+ T cells 2, controls STING1-mediated innate immune responses and selective autophagy of ER components via interaction with SEC62 3, and regulates autophagosome formation by modulating ER-isolation membrane contacts 4. ATP2A2 also supports thermogenesis in beige adipose tissue through ATP-dependent calcium cycling 5. Mutations in ATP2A2 cause Darier disease, an autosomal dominant genodermatosis characterized by chr12 relapsing keratotic papules and plaques in seborrheic areas, with defective epidermal barrier function predisposing to bacterial and viral superinfections 16. The disease involves acantholysis and dyskeratosis in epidermis and nails 6. Current treatment remains largely symptomatic, with systemic retinoids being the most effective option for extensive lesions, though IL-23/IL-17 axis blockade shows promise in therapy-resistant cases 1. ATP2A2 mutations also associate with acrokeratosis verruciformis and rhabdomyolysis. Additionally, impaired ATP2A2 function contributes to diabetic cardiomyopathy through abnormal mitochondrial calcium handling 7.

Sources cited
1
ATP2A2 mutations cause Darier disease; disease pathology includes acantholysis and dyskeratosis
PMID: 39606894
2
ATP2A2/SERCA2 interacts with MFN2 to enhance mitochondria-ER contacts and support CD8+ T cell mitochondrial metabolism
PMID: 37738362
3
ATP2A2 directly interacts with STING1 to regulate innate immune responses and SEC62-mediated selective autophagy
PMID: 40265346
4
SERCA activity regulated by VMP1 controls ER-isolation membrane contacts necessary for autophagosome formation
PMID: 28890335
5
SERCA2b mediates calcium-dependent UCP1-independent thermogenesis in beige adipose tissue
PMID: 29131158
6
ATP2A2 encodes ER Ca2+-ATPase SERCA2; mutations cause dyskeratosis follicularis with epidermal and nail involvement
PMID: 29761773
7
Abnormal mitochondrial calcium handling via decreased ATP2A2 function contributes to diabetic cardiomyopathy
PMID: 30973809
Disease Associationsβ“˜23
Darier diseaseOpen Targets
0.82Strong
acrokeratosis verruciformisOpen Targets
0.63Moderate
neurodegenerative diseaseOpen Targets
0.51Moderate
schizophreniaOpen Targets
0.48Moderate
gastroesophageal reflux diseaseOpen Targets
0.31Weak
atrial fibrillationOpen Targets
0.27Weak
skin diseaseOpen Targets
0.26Weak
obesityOpen Targets
0.26Weak
Abnormality of the skeletal systemOpen Targets
0.24Weak
angina pectorisOpen Targets
0.21Weak
genetic disorderOpen Targets
0.19Weak
myocardial infarctionOpen Targets
0.17Weak
major depressive disorderOpen Targets
0.17Weak
hypothyroidismOpen Targets
0.16Weak
goutOpen Targets
0.13Weak
heart failureOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.11Weak
glioblastoma multiformeOpen Targets
0.10Weak
alcoholic liver diseaseOpen Targets
0.10Weak
intelligenceOpen Targets
0.09Suggestive
Acrokeratosis verruciformisUniProt
Darier diseaseUniProt
Rhabdomyolysis 2UniProt
Pathogenic Variants92
NM_170665.4(ATP2A2):c.2300A>G (p.Asn767Ser)Pathogenic
Darier disease, acral hemorrhagic type|not provided|Keratosis follicularis
β˜…β˜…β˜†β˜†2025β†’ Residue 767
NM_170665.4(ATP2A2):c.2104G>A (p.Asp702Asn)Pathogenic
not provided|Keratosis follicularis
β˜…β˜…β˜†β˜†2025β†’ Residue 702
NM_170665.4(ATP2A2):c.632G>A (p.Gly211Asp)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 211
NM_170665.4(ATP2A2):c.2039C>T (p.Pro680Leu)Pathogenic
not provided|Keratosis follicularis
β˜…β˜…β˜†β˜†2024β†’ Residue 680
NM_170665.4(ATP2A2):c.1A>G (p.Met1Val)Pathogenic
not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 1
NM_170665.4(ATP2A2):c.1805C>T (p.Pro602Leu)Pathogenic
Acrokeratosis verruciformis of Hopf|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 602
NC_000012.12:g.110345247AG[1]Pathogenic
not provided
β˜…β˜†β˜†β˜†2026
NM_170665.4(ATP2A2):c.1389_1390insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCACCGCGCCCGGCCTGAAGGGTCTTTCT (p.Ser463_Lys464insPhePhePhePhePhePheXaaXaaXaaXaaProAspLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaGlyAlaThrAlaProGlyLeuLysGlyLeuSer)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 463
NM_170665.4(ATP2A2):c.1626_1627del (p.Lys543fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 543
NM_170665.4(ATP2A2):c.2305G>A (p.Gly769Arg)Pathogenic
Darier disease, segmental|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 769
NM_170665.4(ATP2A2):c.118+2T>CLikely pathogenic
ATP2A2-related disorder
β˜…β˜†β˜†β˜†2025
NM_170665.4(ATP2A2):c.1264_1265dup (p.Asp422fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 422
NM_170665.4(ATP2A2):c.119-2A>GPathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_170665.4(ATP2A2):c.2839del (p.Leu947fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 947
NM_170665.4(ATP2A2):c.530A>G (p.Gln177Arg)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 177
NM_170665.4(ATP2A2):c.117C>A (p.Asn39Lys)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 39
NM_170665.4(ATP2A2):c.392G>A (p.Arg131Gln)Pathogenic
Keratosis follicularis|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 131
NM_170665.4(ATP2A2):c.1739_1740del (p.Ser580fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 580
NM_170665.4(ATP2A2):c.445G>A (p.Asp149Asn)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 149
NM_170665.4(ATP2A2):c.544+1G>ALikely pathogenic
Keratosis follicularis|not provided
β˜…β˜†β˜†β˜†2024
View on ClinVar β†—
Drug Targets2
ISTAROXIMEPhase II
Sarcoplasmic/endoplasmic reticulum calcium ATPase 2 activator
heart disease
MIPSAGARGINPhase II
Sarcoplasmic/endoplasmic reticulum calcium ATPase inhibitor
adenocarcinoma
Related Genes
SLNProtein interaction100%HRCProtein interaction97%ITPR2Protein interaction94%KAT5Protein interaction94%RORAProtein interaction90%ATP2B4Protein interaction90%
Tissue Expression6 tissues
Heart
100%
Brain
21%
Liver
9%
Lung
9%
Ovary
7%
Bone Marrow
6%
Gene Interaction Network
Click a node to explore
ATP2A2SLNHRCITPR2KAT5RORAATP2B4
PROTEIN STRUCTURE
Preparing viewer…
PDB6LLY Β· 2.80 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.20Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.13 [0.09–0.20]
RankingsWhere ATP2A2 stands among ~20K protein-coding genes
  • #598of 20,598
    Most Researched455 Β· top 5%
  • #830of 5,498
    Most Pathogenic Variants92 Β· top quartile
  • #479of 17,882
    Most Constrained (LOEUF)0.20 Β· top 5%
Genes detectedATP2A2
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Diabetic Cardiomyopathy.
PMID: 30973809
Circ Res Β· 2019
1.00
2
Darier disease: Current insights and challenges in pathogenesis and management.
PMID: 39606894
J Eur Acad Dermatol Venereol Β· 2025
0.90
3
Mitochondria-ER contact mediated by MFN2-SERCA2 interaction supports CD8
PMID: 37738362
Sci Immunol Β· 2023
0.80
4
[Dyskeratosis follicularis].
PMID: 29761773
Ugeskr Laeger Β· 2018
0.70
5
Persistent Cutaneous Lesions of Darier Disease and Second-Hit Somatic Variants in ATP2A2 Gene.
PMID: 38536168
JAMA Dermatol Β· 2024
0.68