ATP9B Gene

HGNC Family	ATPases
Name	ATPase, class II, type 9B
Description	Predicted to enable ATPase-coupled intramembrane lipid transporter activity. Predicted to be involved in endocytosis; phospholipid translocation; and retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum. Located in perinuclear region of cytoplasm and trans-Golgi network. [provided by Alliance of Genome Resources, Mar 2025]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n ATP9B is a member of the class 2 phospholipid‐translocating P4‐ATPases that actively “flip” phospholipids across membranes to maintain lipid asymmetry. Unlike most P4‐ATPases—which require association with CDC50 proteins for efficient exit from the endoplasmic reticulum—ATP9B is unique in that it exits the ER independently and localizes exclusively to the trans‐Golgi network; its N‐terminal cytoplasmic region harbors a Golgi‐targeting signal that underlies this precise subcellular distribution."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Genetic studies have further implicated ATP9B in disease processes. For instance, specific single nucleotide polymorphisms in ATP9B were identified in patients with Hailey Hailey disease, suggesting that the levels or function of ATP9B may modulate disease expressivity."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " In addition, alternative transcripts originating from the ATP9B locus, such as circular RNA_Atp9b, have been shown to regulate extracellular matrix catabolism and inflammatory responses in osteoarthritis as well as modulate inflammation in other contexts."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " Moreover, ATP9B lies within a region of chromosome 18q where altered gene dosage appears to contribute to clinical phenotypes in deletion syndromes, highlighting its potential conditional dosage sensitivity."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": " Expanding beyond human pathology, genome‐wide association studies in cattle have nominated ATP9B as a candidate gene potentially influencing reproductive traits such as age at first calving."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": " Collectively, these findings, together with insights from broader reviews on P4‐ATPases and their roles in intracellular trafficking"}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "9", "end_ref": "11"}]}, {"type": "t", "text": ", underscore the versatile functions of ATP9B in membrane dynamics, disease pathogenesis, and development.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Hiroyuki Takatsu, Keiko Baba, Takahiro Shima, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ATP9B, a P4-ATPase (a putative aminophospholipid translocase), localizes to the trans-Golgi network in a CDC50 protein-independent manner."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M111.281006"}], "href": "https://doi.org/10.1074/jbc.M111.281006"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21914794"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21914794"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Sayuri Okamoto, Tomoki Naito, Ryo Shigetomi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The N- or C-terminal cytoplasmic regions of P4-ATPases determine their cellular localization."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Biol Cell (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1091/mbc.E20-04-0225"}], "href": "https://doi.org/10.1091/mbc.E20-04-0225"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32614659"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32614659"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Nina van Beek, Aikaterini Patsatsi, Yask Gupta, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A family with atypical Hailey Hailey disease--is there more to the underlying genetics than ATP2C1?"}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0121253"}], "href": "https://doi.org/10.1371/journal.pone.0121253"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25837627"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25837627"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Zhi-Bin Zhou, Di Du, Gao-Xiang Huang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Circular RNA Atp9b, a competing endogenous RNA, regulates the progression of osteoarthritis by targeting miR-138-5p."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Gene (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.gene.2017.12.064"}], "href": "https://doi.org/10.1016/j.gene.2017.12.064"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29305974"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29305974"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Jianwei Sun, Xijuan Wang, Dandan Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "circAtp9b knockdown alleviates LPS-caused inflammation provided that microRNA-27a is upregulated."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int Immunopharmacol (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.intimp.2019.105925"}], "href": "https://doi.org/10.1016/j.intimp.2019.105925"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31735661"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31735661"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Kiyoshi Misawa, Takeharu Kanazawa, Daiki Mochizuki, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genes Located on 18q23 Are Epigenetic Markers and Have Prognostic Significance for Patients with Head and Neck Cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancers (Basel) (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3390/cancers11030401"}], "href": "https://doi.org/10.3390/cancers11030401"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30901947"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30901947"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Flavio Rizzolio, Silvia Bione, Cinzia Sala, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Highly conserved non-coding sequences and the 18q critical region for short stature: a common mechanism of disease?"}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0001460"}], "href": "https://doi.org/10.1371/journal.pone.0001460"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18213369"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18213369"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Shoshanna L Fine, Aiysha Malik, Marie-France Guimond, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Improving mental health in low-resource settings: A feasibility randomized controlled trial of a transdiagnostic psychological intervention among Burundian refugee adolescents and their caregivers."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Behav Res Ther (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.brat.2021.103944"}], "href": "https://doi.org/10.1016/j.brat.2021.103944"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34392115"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34392115"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Vincent A van der Mark, Ronald P J Oude Elferink, Coen C Paulusma "}, {"type": "b", "children": [{"type": "t", "text": "P4 ATPases: flippases in health and disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Mol Sci (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3390/ijms14047897"}], "href": "https://doi.org/10.3390/ijms14047897"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23579954"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23579954"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Rosa L Lopez-Marques, Lisa Theorin, Michael G Palmgren, et al. "}, {"type": "b", "children": [{"type": "t", "text": "P4-ATPases: lipid flippases in cell membranes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Pflugers Arch (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00424-013-1363-4"}], "href": "https://doi.org/10.1007/s00424-013-1363-4"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24077738"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24077738"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Jonathan A Coleman, Faraz Quazi, Robert S Molday "}, {"type": "b", "children": [{"type": "t", "text": "Mammalian P4-ATPases and ABC transporters and their role in phospholipid transport."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochim Biophys Acta (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbalip.2012.10.006"}], "href": "https://doi.org/10.1016/j.bbalip.2012.10.006"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23103747"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23103747"}]}]}]}
Synonyms	NEO1L, HUSSY-20, ATPIIB, HMMR1, ATPASEP
Proteins	ATP9B_HUMAN
NCBI Gene ID	374868
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

ATP9B has 5,554 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 106 datasets.

Click the + buttons to view associations for ATP9B from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

ATP9B Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of ATP9B gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of ATP9B gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of ATP9B gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of ATP9B gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of ATP9B gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of ATP9B gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of ATP9B gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of ATP9B gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of ATP9B gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of ATP9B gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of ATP9B gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with ATP9B protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with ATP9B gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of ATP9B gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of ATP9B gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of ATP9B gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of ATP9B gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of ATP9B gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing ATP9B protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing ATP9B protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with ATP9B protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with ATP9B protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of ATP9B gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with ATP9B gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with ATP9B gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with ATP9B gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of ATP9B protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by ATP9B gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with ATP9B gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with ATP9B gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with ATP9B gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with ATP9B gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with ATP9B gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at ATP9B gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of ATP9B gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of ATP9B gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing ATP9B from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of ATP9B gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with ATP9B gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
	GeneSigDB Published Gene Signatures	PubMedIDs of publications reporting gene signatures containing ATP9B from the GeneSigDB Published Gene Signatures dataset.