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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ATP9B
ATPase phospholipid transporting 9B
Chromosome 18 · 18q23
NCBI Gene: 374868Ensembl: ENSG00000166377.22HGNC: HGNC:13541UniProt: B3KSI8
22PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
trans-Golgi networkperinuclear region of cytoplasmphospholipid translocationATPase-coupled intramembrane lipid carrier activityhypopituitarismadverse effectresponse to stimulusPancreatic pseudocyst
✦AI Summary

ATP9B is a P4-ATPase (Type IV P-type ATPase) that functions as a phospholipid flippase, translocating phospholipids from the exoplasmic (luminal) leaflet to the cytoplasmic leaflet of cellular membranes 12. The protein localizes exclusively to the trans-Golgi network (TGN) and operates independently of CDC50 auxiliary proteins, unlike other P4-ATPases 2. ATP9B contains a Golgi localization signal in its N-terminal cytoplasmic region that determines its specific subcellular targeting 23. Functionally, ATP9B works together with ATP9A in the exocytic pathway, facilitating transport of proteins like VSVG from the Golgi to the plasma membrane, with both proteins capable of forming homomeric and/or heteromeric complexes 1. The flippase activity of ATP9B is crucial for this transport process 1. Disease relevance includes associations with hepatocellular carcinoma risk through rare genetic variants identified in genome-wide association studies 4 and potential involvement in Alzheimer's disease susceptibility as suggested by blood biomarker analyses 5. Additionally, circular RNA derived from ATP9B (circATP9b) has been implicated in osteoarthritis progression and inflammatory responses through microRNA-mediated regulatory mechanisms 67.

Sources cited
1
ATP9B functions as a lipid flippase and works with ATP9A in exocytic transport from Golgi to plasma membrane
PMID: 40234049
2
ATP9B localizes to trans-Golgi network independently of CDC50 proteins and contains Golgi localization signals
PMID: 21914794
3
N-terminal region of ATP9B determines its cellular localization
PMID: 32614659
4
ATP9B rare variants associated with hepatocellular carcinoma risk
PMID: 41001506
5
ATP9B potentially associated with Alzheimer's disease susceptibility
PMID: 26625115
6
Circular RNA from ATP9B regulates osteoarthritis progression
PMID: 29305974
7
circATP9b involved in inflammatory responses
PMID: 31735661
Disease Associationsⓘ20
hypopituitarismOpen Targets
0.32Weak
adverse effectOpen Targets
0.28Weak
response to stimulusOpen Targets
0.27Weak
Pancreatic pseudocystOpen Targets
0.27Weak
femur fractureOpen Targets
0.26Weak
diabetes mellitusOpen Targets
0.24Weak
obesityOpen Targets
0.19Weak
spermatoceleOpen Targets
0.18Weak
overnutritionOpen Targets
0.14Weak
color vision disorderOpen Targets
0.12Weak
Griscelli diseaseOpen Targets
0.07Suggestive
Griscelli disease type 3Open Targets
0.06Suggestive
Griscelli syndrome type 3Open Targets
0.06Suggestive
uncombable hair syndromeOpen Targets
0.05Suggestive
oculocutaneous albinism type 3Open Targets
0.05Suggestive
Griscelli disease type 1Open Targets
0.04Suggestive
Griscelli syndrome type 1Open Targets
0.04Suggestive
Microcephaly - albinism - digital anomaliesOpen Targets
0.04Suggestive
microcephaly-albinism-digital anomalies syndromeOpen Targets
0.04Suggestive
prostate carcinomaOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ATP10BShared pathway40%ATP8B4Shared pathway40%ATP8B3Shared pathway40%ATP9AShared pathway38%ATP8B2Shared pathway33%ATP11CShared pathway33%
Tissue Expression6 tissues
Ovary
100%
Brain
77%
Bone Marrow
76%
Lung
72%
Liver
55%
Heart
52%
Gene Interaction Network
Click a node to explore
ATP9BATP10BATP8B4ATP8B3ATP9AATP8B2ATP11C
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt O43861
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.86LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.71 [0.59–0.86]
RankingsWhere ATP9B stands among ~20K protein-coding genes
  • #13,606of 20,598
    Most Researched22
  • #7,486of 17,882
    Most Constrained (LOEUF)0.86
Genes detectedATP9B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Lipid flippases ATP9A and ATP9B form a complex and contribute to the exocytic pathway from the Golgi.
PMID: 40234049
Life Sci Alliance · 2025
1.00
2
Germline Variants Influence Chronic Liver Disease Progression through Distinct Pathways.
PMID: 41001506
medRxiv · 2025
0.90
3
A unique gating mechanism revealed by the cryo-EM structure of monomeric ATP9A flippase.
PMID: 40876594
J Biol Chem · 2025
0.80
4
The N- or C-terminal cytoplasmic regions of P4-ATPases determine their cellular localization.
PMID: 32614659
Mol Biol Cell · 2020
0.70
5
Can Genetic Analysis of Putative Blood Alzheimer's Disease Biomarkers Lead to Identification of Susceptibility Loci?
PMID: 26625115
PLoS One · 2015
0.60