HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 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.
ATP2B3
ATPase plasma membrane Ca2+ transporting 3
Chromosome X Β· Xq28
NCBI Gene: 492Ensembl: ENSG00000067842.19HGNC: HGNC:816UniProt: A0A994J5M1
59PubMed Papers
21Diseases
0Drugs
9Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTransporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
GABA-ergic synapseprotein bindingP-type calcium transporter activity involved in regulation of presynaptic cytosolic calcium ion concentrationregulation of cytosolic calcium ion concentrationX-linked progressive cerebellar ataxiaaldosterone-producing adenomaspinocerebellar ataxia type 1genetic disorder
✦AI Summary

ATP2B3 encodes a plasma membrane calcium ATPase (PMCA3) that functions as an ATP-driven calcium ion pump. The primary role of ATP2B3 is maintaining basal intracellular Ca2+ levels at presynaptic terminals by actively transporting cytosolic calcium ions across the plasma membrane to the extracellular compartment, using ATP hydrolysis as the energy source 1234. The gene is located on chromosome X 5 and shows tissue-specific expression, particularly in the nervous system. Clinically, ATP2B3 mutations have emerged as significant contributors to primary aldosteronism, the most common cause of secondary hypertension. Somatic ATP2B3 mutations are identified in approximately 10-15% of aldosterone-producing adenomas 6789101112. These mutations disrupt intracellular calcium signaling, leading to cell membrane depolarization and subsequent excessive aldosterone production 679. The identification of ATP2B3 as a disease gene has important implications for understanding the genetic basis of hypertension and potentially developing targeted molecular therapies. Additionally, ATP2B3 is a candidate gene for neurological diseases assigned to the distal Xq region 5.

Sources cited
1
ATP2B3 maintains basal intracellular Ca2+ levels at presynaptic terminals
PMID: 18029012
2
ATP2B3 maintains basal intracellular Ca2+ levels at presynaptic terminals
PMID: 22912398
3
ATP2B3 uses ATP to transport cytosolic Ca2+ across plasma membrane
PMID: 25953895
4
ATP2B3 uses ATP to transport cytosolic Ca2+ across plasma membrane
PMID: 27035656
5
ATP2B3 located on chromosome Xq28; candidate gene for neurological diseases
PMID: 8187550
6
ATP2B3 mutations found in aldosterone-producing adenomas; alter ion transport leading to aldosterone overproduction
PMID: 35841527
7
ATP2B3 mutations identified in aldosterone-producing adenomas; role in intracellular calcium signaling
PMID: 31207362
8
Over 90% of aldosterone-producing adenomas carry somatic mutations in ATP2B3 and other genes
PMID: 35139664
9
ATP2B3 defects implicated in benign aldosterone-producing tumors through modification of intracellular calcium signaling
PMID: 32507359
10
ATP2B3 mutations are susceptibility genes for aldosterone-producing adenomas
PMID: 27485459
11
ATP2B3 mutations discovered in primary aldosteronism, most common cause of secondary hypertension
PMID: 26125435
12
ATP2B3 somatic driver mutations identified in substantial portion of aldosterone-producing adenomas
PMID: 31695023
Disease Associationsβ“˜21
X-linked progressive cerebellar ataxiaOpen Targets
0.62Moderate
aldosterone-producing adenomaOpen Targets
0.52Moderate
spinocerebellar ataxia type 1Open Targets
0.46Moderate
genetic disorderOpen Targets
0.38Weak
bile duct carcinomaOpen Targets
0.37Weak
breast ductal adenocarcinomaOpen Targets
0.37Weak
colon adenocarcinomaOpen Targets
0.37Weak
colorectal adenocarcinomaOpen Targets
0.37Weak
cutaneous melanomaOpen Targets
0.37Weak
Endometrial Endometrioid AdenocarcinomaOpen Targets
0.37Weak
HER2 Positive Breast CarcinomaOpen Targets
0.37Weak
lung carcinomaOpen Targets
0.37Weak
lymphoid neoplasmOpen Targets
0.37Weak
Ovarian Endometrioid Adenocarcinoma with Squamous DifferentiationOpen Targets
0.37Weak
pancreatic neoplasmOpen Targets
0.37Weak
skin basal cell carcinomaOpen Targets
0.37Weak
skin squamous cell carcinomaOpen Targets
0.37Weak
X-linked non progressive cerebellar ataxiaOpen Targets
0.37Weak
Global developmental delayOpen Targets
0.33Weak
Intellectual disabilityOpen Targets
0.33Weak
Spinocerebellar ataxia, X-linked 1UniProt
Pathogenic Variants9
NM_001001344.3(ATP2B3):c.3320G>A (p.Gly1107Asp)Likely pathogenic
X-linked progressive cerebellar ataxia|not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2021β†’ Residue 1107
NM_001001344.3(ATP2B3):c.130G>A (p.Glu44Lys)Likely pathogenic
Spastic ataxia
β˜…β˜†β˜†β˜†2021β†’ Residue 44
NM_001001344.3(ATP2B3):c.2770A>G (p.Thr924Ala)Likely pathogenic
X-linked progressive cerebellar ataxia
β˜…β˜†β˜†β˜†2021β†’ Residue 924
NM_001001344.3(ATP2B3):c.3594G>T (p.Lys1198Asn)Likely pathogenic
8 conditions|X-linked progressive cerebellar ataxia
β˜…β˜†β˜†β˜†2019β†’ Residue 1198
NM_001001344.3(ATP2B3):c.197C>T (p.Ser66Leu)Likely pathogenic
Arthrogryposis multiplex congenita;Fetal akinesia deformation sequence 1
β˜…β˜†β˜†β˜†2019β†’ Residue 66
NM_001001344.3(ATP2B3):c.3338C>T (p.Thr1113Met)Likely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2013β†’ Residue 1113
NM_001001344.3(ATP2B3):c.1272_1277del (p.Leu425_Val426del)Pathogenic
Aldosterone-producing adrenal cortex adenoma
β˜†β˜†β˜†β˜†2013β†’ Residue 425
NM_001001344.3(ATP2B3):c.1273_1278del (p.Leu425_Val426del)Pathogenic
Aldosterone-producing adrenal cortex adenoma
β˜†β˜†β˜†β˜†2013β†’ Residue 425
NM_001001344.3(ATP2B3):c.1277_1282del (p.Val426_Val427del)Pathogenic
Aldosterone-producing adrenal cortex adenoma
β˜†β˜†β˜†β˜†2013β†’ Residue 426
View on ClinVar β†—
Related Genes
PRKACAProtein interaction93%PRKACBProtein interaction93%PRKACGProtein interaction93%PRKG1Protein interaction91%PRKG2Protein interaction91%CYP11B2Protein interaction78%
Tissue Expression6 tissues
Brain
100%
Ovary
0%
Liver
0%
Bone Marrow
0%
Lung
0%
Heart
0%
Gene Interaction Network
Click a node to explore
ATP2B3PRKACAPRKACBPRKACGPRKG1PRKG2CYP11B2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q16720
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.27Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.17 [0.11–0.27]
RankingsWhere ATP2B3 stands among ~20K protein-coding genes
  • #7,735of 20,598
    Most Researched59
  • #2,959of 5,498
    Most Pathogenic Variants9
  • #944of 17,882
    Most Constrained (LOEUF)0.27 Β· top 10%
Genes detectedATP2B3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Primary Aldosteronism.
PMID: 31327272
Hypertension Β· 2019
1.00
2
Update on the Genetics of Primary Aldosteronism and Aldosterone-Producing Adenomas.
PMID: 35841527
Curr Cardiol Rep Β· 2022
0.90
3
Genomics of benign adrenocortical tumors.
PMID: 31207362
J Steroid Biochem Mol Biol Β· 2019
0.80
4
Genetics of Primary Aldosteronism.
PMID: 35139664
Hypertension Β· 2022
0.70
5
Adrenocortical tumorigenesis: Lessons from genetics.
PMID: 32507359
Best Pract Res Clin Endocrinol Metab Β· 2020
0.60