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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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ATP8B3
ATPase phospholipid transporting 8B3
Chromosome 19 Β· 19p13.3
NCBI Gene: 148229Ensembl: ENSG00000130270.16HGNC: HGNC:13535UniProt: O60423
16PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
plasma membraneGolgi organizationATPase-coupled intramembrane lipid carrier activityphospholipid translocationCOVID-19severe acute respiratory syndromecardiovascular diseasekidney transplant
✦AI Summary

ATP8B3 is a P4-ATPase flippase that catalyzes ATP hydrolysis coupled to phospholipid translocation from the outer to inner membrane leaflet, maintaining asymmetric phospholipid distribution 1. Unlike other class 1 P4-ATPases, ATP8B3 does not interact with CDC50 proteins and remains localized in the endoplasmic reticulum rather than trafficking to the plasma membrane 1. ATP8B3 has been implicated in sperm cell function, potentially maintaining phosphatidylserine asymmetry in spermatozoa membranes and involvement in acrosome reactions 2. Recent studies have identified ATP8B3 as having broader physiological roles beyond reproductive function. Genetic variants in ATP8B3 are associated with aspirin-exacerbated respiratory disease in asthmatics, where minor alleles may confer protection through increased ATP8B3 production 3. In colon adenocarcinoma, ATP8B3 contributes to establishing an immunosuppressive microenvironment and correlates with PD-L1 expression, suggesting its inhibition could enhance immunotherapy efficacy in microsatellite instability-high tumors 4. Additionally, ATP8B3 variants have been associated with adipocytokine regulation and triglyceride levels in genetic studies 56, and cardiac abnormalities in mouse models 7, indicating diverse roles in metabolic and cardiovascular physiology beyond its established membrane lipid transport function.

Sources cited
1
ATP8B3 is a P4-ATPase that does not interact with CDC50 proteins and remains in the ER
PMID: 20947505
2
ATP8B3 role in sperm cell capacitation and phosphatidylserine maintenance
PMID: 19254779
3
ATP8B3 variants associated with aspirin-exacerbated respiratory disease protection
PMID: 35997042
4
ATP8B3 role in colon adenocarcinoma immunosuppressive environment and PD-L1 correlation
PMID: 39074670
5
ATP8B3 variants associated with adipocytokine regulation
PMID: 40187068
6
ATP8B3 variants associated with triglyceride levels
PMID: 40841581
7
ATP8B3 associated with cardiac abnormalities in mouse models
PMID: 41756822
Disease Associationsβ“˜20
COVID-19Open Targets
0.17Weak
severe acute respiratory syndromeOpen Targets
0.16Weak
cardiovascular diseaseOpen Targets
0.14Weak
kidney transplantOpen Targets
0.12Weak
hypertensionOpen Targets
0.10Suggestive
Increased blood pressureOpen Targets
0.10Suggestive
Rare genetic female infertilityOpen Targets
0.08Suggestive
azoospermiaOpen Targets
0.07Suggestive
Male infertility with spermatogenesis disorder due to single gene mutationOpen Targets
0.05Suggestive
spermatogenic failure 3Open Targets
0.05Suggestive
spermatogenic failure 55Open Targets
0.05Suggestive
sensory perception of smellOpen Targets
0.05Suggestive
spermatogenic failure 83Open Targets
0.05Suggestive
spermatogenic failure 7Open Targets
0.05Suggestive
spermatogenic failure 29Open Targets
0.05Suggestive
spermatogenic failure 16Open Targets
0.05Suggestive
spermatogenic failure 21Open Targets
0.05Suggestive
spermatogenic failure 26Open Targets
0.05Suggestive
spermatogenic failure 31Open Targets
0.05Suggestive
spermatogenic failure 87Open Targets
0.05Suggestive
Pathogenic Variants1
NM_138813.4(ATP8B3):c.1009C>T (p.Arg337Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2016β†’ Residue 337
View on ClinVar β†—
Related Genes
ATP8B4Shared pathway100%CDC50AProtein interaction88%ATP8B2Shared pathway75%ATP10BShared pathway50%ATP11BShared pathway40%ATP9BShared pathway40%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
15%
Ovary
15%
Lung
13%
Heart
6%
Brain
3%
Gene Interaction Network
Click a node to explore
ATP8B3ATP8B4CDC50AATP8B2ATP10BATP11BATP9B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O60423
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.28LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.11 [0.97–1.28]
RankingsWhere ATP8B3 stands among ~20K protein-coding genes
  • #15,207of 20,598
    Most Researched16
  • #5,417of 5,498
    Most Pathogenic Variants1
  • #13,501of 17,882
    Most Constrained (LOEUF)1.28
Genes detectedATP8B3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Association of ATP8B3 gene polymorphisms with aspirin-exacerbated respiratory disease in asthmatics.
PMID: 35997042
Pharmacogenet Genomics Β· 2022
1.00
2
Novel genetic associations with childhood adipocytokines in Indian adolescents.
PMID: 40187068
Cytokine Β· 2025
0.90
3
Validation of Genetic Markers Associated with Survival in Colorectal Cancer Patients Treated with Oxaliplatin-Based Chemotherapy.
PMID: 34862210
Cancer Epidemiol Biomarkers Prev Β· 2022
0.80
4
The aminophospholipid transporter, ATP8B3, as a potential biomarker and target for enhancing the therapeutic effect of PD-L1 blockade in colon adenocarcinoma.
PMID: 39074670
Genomics Β· 2024
0.70
5
Early lipid genetics: identification of common and rare genetic variants for lipid traits in Indian adolescents.
PMID: 40841581
J Hum Genet Β· 2025
0.60