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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ATP8B2
ATPase phospholipid transporting 8B2
Chromosome 1 · 1q21.3
NCBI Gene: 57198Ensembl: ENSG00000143515.21HGNC: HGNC:13534UniProt: P98198
29PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
phosphatidylcholine flippase activityGolgi apparatusplasma membraneprotein bindingtype 2 diabetes mellitusParkinson diseaseneurodegenerative diseasemultiple sclerosis
✦AI Summary

ATP8B2 encodes a P4-ATPase flippase that catalyzes ATP hydrolysis coupled to phospholipid transport from the outer to inner leaflet of cellular membranes 1. This enzyme primarily functions as a phosphatidylcholine flippase at the plasma membrane, requiring CDC50A for proper trafficking from the endoplasmic reticulum 2. Beyond phosphatidylcholine, ATP8B2 can also translocate phosphatidylinositol, contributing to phosphoinositide homeostasis and membrane asymmetry maintenance 1. The protein plays crucial roles in cellular processes including autophagy regulation, lysosomal membrane fusion, and mitochondrial homeostasis 34. ATP8B2 downregulation has significant pathological implications, particularly in atherosclerosis where it impairs autophagic flux, inhibits oxidized LDL degradation by macrophages, and exacerbates foam cell formation through disrupted lysosomal function 34. The gene shows disease associations with ulcerative colitis and may influence BMI regulation, with rare loss-of-function variants associated with reduced body mass index 56. Additionally, de novo missense variants in ATP8B2 have been identified in patients with intellectual disability, highlighting its importance in neurological function 2.

Sources cited
1
ATP8B2 functions as phosphatidylcholine and phosphatidylinositol flippase contributing to membrane asymmetry
PMID: 39258799
2
ATP8B2 requires CDC50A for ER exit and plasma membrane localization, and missense variants are associated with intellectual disability
PMID: 39219493
3
ATP8B2 downregulation inhibits autophagic flux and ox-LDL degradation in atherosclerosis
PMID: 40148707
4
ATP8B2 downregulation impairs lysosomal membrane fusion and exacerbates foam cell formation
PMID: 40402302
5
ATP8B2 is associated with ulcerative colitis subgroups
PMID: 37843347
6
Rare ATP8B2 loss-of-function variants are associated with reduced BMI
PMID: 41363690
Disease Associationsⓘ20
type 2 diabetes mellitusOpen Targets
0.36Weak
Parkinson diseaseOpen Targets
0.26Weak
Alzheimer diseaseOpen Targets
0.26Weak
lysosomal storage diseaseOpen Targets
0.26Weak
multiple sclerosisOpen Targets
0.26Weak
neurodegenerative diseaseOpen Targets
0.26Weak
juvenile idiopathic arthritisOpen Targets
0.12Weak
Chronic painOpen Targets
0.10Weak
goutOpen Targets
0.10Suggestive
ovarian neoplasmOpen Targets
0.05Suggestive
coronary artery diseaseOpen Targets
0.03Suggestive
Myocardial IschemiaOpen Targets
0.03Suggestive
myocardial infarctionOpen Targets
0.03Suggestive
atrial fibrillationOpen Targets
0.02Suggestive
Decreased total leukocyte countOpen Targets
0.02Suggestive
hypertensionOpen Targets
0.02Suggestive
angina pectorisOpen Targets
0.02Suggestive
cardiovascular diseaseOpen Targets
0.02Suggestive
squamous cell carcinomaOpen Targets
0.02Suggestive
ovarian carcinomaOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CDC50BProtein interaction97%CDC50AProtein interaction78%ATP8B3Shared pathway75%ATP8B4Shared pathway75%ATP11BShared pathway60%ATP11CShared pathway60%
Tissue Expression6 tissues
Ovary
100%
Lung
51%
Heart
43%
Bone Marrow
27%
Brain
16%
Liver
10%
Gene Interaction Network
Click a node to explore
ATP8B2CDC50BCDC50AATP8B3ATP8B4ATP11BATP11C
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P98198
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.62LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.51 [0.42–0.62]
RankingsWhere ATP8B2 stands among ~20K protein-coding genes
  • #12,103of 20,598
    Most Researched29
  • #4,386of 17,882
    Most Constrained (LOEUF)0.62 · top quartile
Genes detectedATP8B2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Novel phosphatidylinositol flippases contribute to phosphoinositide homeostasis in the plasma membrane.
PMID: 39258799
Biochem J · 2024
1.00
2
Down-regulation of ATP8B2 in Foam Cells Inhibits Autophagic Flux and ox-LDL Degradation in Atherosclerosis.
PMID: 40148707
Cell Biochem Biophys · 2025
0.90
3
PMID: 39219493
Mol Cell Biol · 2024
0.80
4
Substrates of P4-ATPases: beyond aminophospholipids (phosphatidylserine and phosphatidylethanolamine).
PMID: 30509129
FASEB J · 2019
0.70
5
Construction of molecular subgroups of ulcerative colitis.
PMID: 37843347
Eur Rev Med Pharmacol Sci · 2023
0.60