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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ATP11B
ATPase phospholipid transporting 11B (putative)
Chromosome 3 · 3q26.33
NCBI Gene: 23200Ensembl: ENSG00000058063.18HGNC: HGNC:13553UniProt: B4DKX1
31PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
endoplasmic reticulumrecycling endosomemembraneearly endosome membranealcohol drinkinghearing lossandrogenetic alopeciaobesity
✦AI Summary

ATP11B is a P4-ATPase flippase that catalyzes ATP-dependent transport of aminophospholipids, particularly phosphatidylserine and phosphatidylethanolamine, from the outer to inner leaflet of intracellular membranes 1. This activity maintains membrane lipid asymmetry in endosomal compartments 1 and is essential for proper cellular signaling and vesicle trafficking 2. ATP11B shows tissue-specific expression patterns during development, with roles in neural crest, ocular, auditory, and hepatic development 2. Clinically, ATP11B dysfunction is implicated in cerebral small vessel disease (SVD). Loss-of-function mutations cause endothelial cell dysfunction and patchy white matter damage independent of hypertension, suggesting inherent vascular vulnerability 3. However, ATP11B's role in SVD may be population-specific, as variants showed minimal association in Chinese populations 4. In cancer contexts, ATP11B promotes cisplatin resistance in ovarian cancer through enhanced drug efflux via Golgi-to-plasma membrane vesicular transport 5. Conversely, ATP11B upregulation in T cells enhances anti-tumor immunity by increasing S1PR1 externalization, promoting T-cell infiltration into glioblastoma and improving immunotherapy response 6. ATP11B also appears dysregulated in sepsis pathogenesis as an aging-related hub gene associated with immune dysfunction 7.

Sources cited
1
ATP11B catalyzes ATP-coupled transport of phosphatidylserine and phosphatidylethanolamine and maintains membrane lipid asymmetry in endosomes
PMID: 30018401
2
ATP11B is a P4-flippase responsible for phospholipid asymmetry and shows tissue-specific expression in neural crest, eye, ear, and liver development
PMID: 32344036
3
ATP11B loss causes cerebral small vessel disease with endothelial dysfunction and white matter pathology independent of hypertension
PMID: 35635573
4
ATP11B variants showed minimal association with cerebral small vessel disease in Chinese Han population
PMID: 36510145
5
ATP11B mediates cisplatin resistance through enhanced drug efflux via vesicular transport from Golgi to plasma membrane
PMID: 23585472
6
ATP11B upregulation in T cells enhances S1PR1 externalization, promoting T-cell infiltration into glioblastoma and improving immunotherapy
PMID: 40426254
7
ATP11B is an aging-related hub gene dysregulated in sepsis with predictive power for disease severity
PMID: 41394771
8
ATP11B is among P4-ATPases that transport phosphatidylserine to maintain membrane lipid asymmetry
PMID: 30509129
Disease Associationsⓘ20
alcohol drinkingOpen Targets
0.42Moderate
hearing lossOpen Targets
0.30Weak
androgenetic alopeciaOpen Targets
0.30Weak
obesityOpen Targets
0.27Weak
frozen shoulderOpen Targets
0.27Weak
age-related hearing impairmentOpen Targets
0.27Weak
male reproductive system diseaseOpen Targets
0.25Weak
diabetes mellitusOpen Targets
0.24Weak
overnutritionOpen Targets
0.24Weak
tooth agenesisOpen Targets
0.20Weak
placental retentionOpen Targets
0.19Weak
type 2 diabetes mellitusOpen Targets
0.19Weak
response to antihypertensive drugOpen Targets
0.19Weak
epilepsyOpen Targets
0.18Weak
hypertrophic cardiomyopathyOpen Targets
0.17Weak
brain aneurysmOpen Targets
0.17Weak
eye swellingOpen Targets
0.17Weak
placenta praeviaOpen Targets
0.17Weak
cardiac arrestOpen Targets
0.16Weak
Abnormality of the immune systemOpen Targets
0.15Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CDC50AProtein interaction97%ATP11AProtein interaction73%ATP11CShared pathway60%ATP10DShared pathway60%ATP8B2Shared pathway60%ATP10AShared pathway60%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
59%
Heart
53%
Ovary
40%
Brain
32%
Liver
27%
Gene Interaction Network
Click a node to explore
ATP11BCDC50AATP11AATP11CATP10DATP8B2ATP10A
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9Y2G3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.52Moderately Constrained
pLIⓘ
0.75Intermediate
Observed/Expected LoF0.39 [0.29–0.52]
RankingsWhere ATP11B stands among ~20K protein-coding genes
  • #11,666of 20,598
    Most Researched31
  • #3,236of 17,882
    Most Constrained (LOEUF)0.52 · top quartile
Genes detectedATP11B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
ATP11B triggers the infiltration of T cells into GBM and intensifies anti-GBM immunity by upregulating and externalizing S1PR1.
PMID: 40426254
J Transl Med · 2025
1.00
2
Genetic analysis of the ATP11B gene in Chinese Han population with cerebral small vessel disease.
PMID: 36510145
BMC Genomics · 2022
0.90
3
Oncolytic immunotherapy: multiple mechanisms of oncolytic peptides to confer anticancer immunity.
PMID: 35851309
J Immunother Cancer · 2022
0.80
4
Substrates of P4-ATPases: beyond aminophospholipids (phosphatidylserine and phosphatidylethanolamine).
PMID: 30509129
FASEB J · 2019
0.70
5
Mapping of the ATP11B gene and refined localization of the SOX2 and FXR1 genes to BTA1q33.
PMID: 15566487
Anim Genet · 2004
0.60