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25 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ATP2B4
ATPase plasma membrane Ca2+ transporting 4
Chromosome 1 · 1q32.1
NCBI Gene: 493Ensembl: ENSG00000058668.17HGNC: HGNC:817UniProt: P23634
174PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cellular response to epinephrine stimulusnegative regulation of adenylate cyclase-activating adrenergic receptor signaling pathwaynegative regulation of cellular response to vascular endothelial growth factor stimuluscalcium ion exportmalariaAbnormality of the skeletal systemchronic venous hypertensionmale infertility
✦AI Summary

ATP2B4 encodes a plasma membrane calcium-ATPase (PMCA4b) that catalyzes ATP-dependent calcium export from cells 1. This calcium pump is the primary regulator of erythrocyte calcium homeostasis 2, maintaining intracellular calcium balance through active transport 3. ATP2B4 has emerged as a significant malaria-resistance gene. Genetic variants in ATP2B4, particularly SNPs in a regulatory haplotype region, reduce PMCA4b expression and calcium extrusion capacity in red blood cells 3. These variants are associated with protection against severe malaria in African populations 4, with homozygous carriers showing suppressed Plasmodium falciparum parasite growth in vitro 2. The protective mechanism appears independent of effects on parasite adhesion or var-gene expression, instead operating through altered erythrocyte calcium handling 2. ATP2B4 polymorphisms also associate with mild malaria risk 5. Notably, ATP2B4 variants in adrenal tissue have been investigated in primary aldosteronism but did not demonstrate pathogenic effects on aldosterone production 6. The gene represents a critical example of how red blood cell membrane protein variants shape malaria susceptibility through calcium regulation mechanisms 7.

Sources cited
1
ATP2B4 catalyzes ATP hydrolysis coupled with calcium transport out of cells
PMID: 8530416
2
ATP2B4 is the primary regulator of erythrocyte calcium concentration; genetic variants reduce PMCA4b expression and calcium extrusion rates; variants are associated with reduced P. falciparum growth in vitro
PMID: 36604655
3
Minor ATP2B4 haplotype in promoter region correlates with reduced PMCA4b protein levels and calcium extrusion capacity; linked to malaria protection in GWAS studies
PMID: 28216081
4
ATP2B4 polymorphisms are significantly associated with severe malaria protection (OR 0.76); ATP2B4 codes for the major calcium pump on red blood cells
PMID: 30033078
5
Parasite growth inhibition by calcium channel blockade confirms PMCA4b sensitivity; protection mechanism independent of parasite adhesion or var-gene expression
PMID: 36604655
6
ATP2B4 regulatory variants are associated with mild malaria; homozygous major alleles increase mild malaria risk
PMID: 36849945
7
ATP2B4 variants investigated in bilateral hyperaldosteronism; did not alter basal or agonist-stimulated aldosterone synthase expression
PMID: 32002807
8
ATP2B4 polymorphisms are among newly identified variants associated with malaria protection, related to red blood cell structure/function
PMID: 32130487
Disease Associationsⓘ20
malariaOpen Targets
0.36Weak
Abnormality of the skeletal systemOpen Targets
0.31Weak
chronic venous hypertensionOpen Targets
0.18Weak
male infertilityOpen Targets
0.12Weak
prostate cancerOpen Targets
0.11Weak
Familial prostate cancerOpen Targets
0.11Weak
azoospermiaOpen Targets
0.10Suggestive
Male infertility with spermatogenesis disorder due to single gene mutationOpen Targets
0.09Suggestive
spermatogenic failure 3Open Targets
0.09Suggestive
spermatogenic failure 55Open Targets
0.09Suggestive
spermatogenic failure 83Open Targets
0.09Suggestive
spermatogenic failure 7Open Targets
0.09Suggestive
spermatogenic failure 16Open Targets
0.09Suggestive
spermatogenic failure 21Open Targets
0.09Suggestive
melanomaOpen Targets
0.08Suggestive
spermatogenic failure 29Open Targets
0.08Suggestive
spermatogenic failure 79Open Targets
0.08Suggestive
spermatogenic failure 10Open Targets
0.08Suggestive
spermatogenic failure 11Open Targets
0.08Suggestive
partial chromosome Y deletionOpen Targets
0.08Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PRKACGProtein interaction99%PRKACBProtein interaction99%PRKACAProtein interaction99%NOS1Protein interaction98%SCN5AProtein interaction96%CALM2Protein interaction96%
Tissue Expression6 tissues
Heart
100%
Brain
69%
Lung
49%
Ovary
43%
Liver
23%
Bone Marrow
23%
Gene Interaction Network
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ATP2B4PRKACGPRKACBPRKACANOS1SCN5ACALM2
PROTEIN STRUCTURE
Preparing viewer…
PDB1CFF · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.44Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.34 [0.26–0.44]
RankingsWhere ATP2B4 stands among ~20K protein-coding genes
  • #2,516of 20,598
    Most Researched174 · top quartile
  • #2,407of 17,882
    Most Constrained (LOEUF)0.44 · top quartile
Genes detectedATP2B4
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Molecular and Electrophysiological Analyses of ATP2B4 Gene Variants in Bilateral Adrenal Hyperaldosteronism.
PMID: 32002807
Horm Cancer · 2020
1.00
2
Genetic variations in human ATP2B4 gene alter Plasmodium falciparum in vitro growth in RBCs from Gambian adults.
PMID: 36604655
Malar J · 2023
0.90
3
Human genetics and malaria resistance.
PMID: 32130487
Hum Genet · 2020
0.80
4
GUSB and ATP2B4 are suitable reference genes for CFTR gene expression data normalization in nasal epithelium cells.
PMID: 22525089
J Cyst Fibros · 2012
0.70
5
Identification of
PMID: 35563239
Int J Mol Sci · 2022
0.60