HLA-DOB Gene

HGNC Family	Immunoglobulin superfamily domain containing, Histocompatibility complex (HLA)
Name	major histocompatibility complex, class II, DO beta
Description	HLA-DOB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DOA) and a beta chain (DOB), both anchored in the membrane. It is located in intracellular vesicles. DO suppresses peptide loading of MHC class II molecules by inhibiting HLA-DM. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. [provided by RefSeq, Jul 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n HLA‐DOB is a non‐classical major histocompatibility complex (MHC) class II–like molecule that pairs with HLA‐DOA to form the HLA‐DO complex, which plays a key regulatory role in antigen processing by antigen‐presenting cells. Functionally, the HLA‐DO complex modulates peptide loading onto MHC class II molecules by impairing the activity of HLA‐DM, thereby down‐regulating the exchange of CLIP for antigenic peptides and fine‐tuning the peptide repertoire presented to CD4+ T cells."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In addition to its central role in antigen presentation, genetic variations in HLA‐DOB have been linked to differences in the ability to control viral infections. Alterations in the HLA‐DOB gene can result in either loss‐ or gain‐of–function, thus affecting the production of retrovirus‐neutralizing antibodies and influencing susceptibility to infections such as hepatitis B and C."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Moreover, studies evaluating autoimmune and inflammatory diseases have examined HLA‐DOB, with some data indicating that variants in the HLA‐DOB region may be associated with conditions like Kawasaki disease, although the overall contribution of HLA‐DO variants to autoimmunity appears to be limited."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Additional investigations have identified transcriptional regulators, such as the 19S proteasomal subunit Sug1, as factors that influence the expression of HLA‐DO, further highlighting the complex regulation of antigen presentation pathways in which HLA‐DOB is involved."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": " Comparative studies in animal models have also demonstrated a conserved role for DO molecules, supporting their functional relevance across species."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Collectively, these studies underscore that HLA‐DOB serves as a critical modulator of class II antigen processing, influencing adaptive immune responses and impacting susceptibility to infections and inflammatory conditions.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Jennifer L Fallas, Helen M Tobin, Olivia Lou, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Ectopic expression of HLA-DO in mouse dendritic cells diminishes MHC class II antigen presentation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Immunol (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.4049/jimmunol.173.3.1549"}], "href": "https://doi.org/10.4049/jimmunol.173.3.1549"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15265882"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15265882"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Yaritza Inostroza-Nieves, Prasanna Venkatraman, Zarixia Zavala-Ruiz "}, {"type": "b", "children": [{"type": "t", "text": "Role of Sug1, a 19S proteasome ATPase, in the transcription of MHC I and the atypical MHC II molecules, HLA-DM and HLA-DO."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Immunol Lett (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.imlet.2012.06.005"}], "href": "https://doi.org/10.1016/j.imlet.2012.06.005"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22771340"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22771340"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Lisa K Denzin, Aly A Khan, Francesca Virdis, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Neutralizing Antibody Responses to Viral Infections Are Linked to the Non-classical MHC Class II Gene H2-Ob."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Immunity (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.immuni.2017.07.013"}], "href": "https://doi.org/10.1016/j.immuni.2017.07.013"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28813660"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28813660"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Peng Huang, Yuanyuan Zhang, Xiaomei Lu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Association of polymorphisms in HLA antigen presentation-related genes with the outcomes of HCV infection."}]}, {"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.0123513"}], "href": "https://doi.org/10.1371/journal.pone.0123513"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25874709"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25874709"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Marcel van Lith, Marieke van Ham, Jacques Neefjes "}, {"type": "b", "children": [{"type": "t", "text": "Novel polymorphisms in HLA-DOA and HLA-DOB in B-cell malignancies."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Immunogenetics (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00251-002-0500-6"}], "href": "https://doi.org/10.1007/s00251-002-0500-6"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12439622"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12439622"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "A Shendre, H W Wiener, D Zhi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "High-density genotyping of immune loci in Kawasaki disease and IVIG treatment response in European-American case-parent trio study."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genes Immun (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/gene.2014.47"}], "href": "https://doi.org/10.1038/gene.2014.47"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25101798"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25101798"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Y Arimura "}, {"type": "b", "children": [{"type": "t", "text": "[Analysis of the rat novel major histocompatibility complex class II genes, RT1.Ha, RT1.Hb and RT1.DOa]."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hokkaido Igaku Zasshi (1995)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "7590596"}], "href": "https://pubmed.ncbi.nlm.nih.gov/7590596"}]}]}]}
Synonyms	DOB, HLA_DOB
Proteins	DOB_HUMAN
NCBI Gene ID	3112
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

HLA-DOB has 5,099 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 109 datasets.

Click the + buttons to view associations for HLA-DOB from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

HLA-DOB 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 HLA-DOB gene relative to other tissues from the Allen Brain Atlas Adult Human 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 HLA-DOB 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 HLA-DOB gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of HLA-DOB 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 HLA-DOB 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 HLA-DOB gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of HLA-DOB gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of HLA-DOB gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of HLA-DOB 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 HLA-DOB gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with HLA-DOB 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 HLA-DOB gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of HLA-DOB 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 HLA-DOB 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 HLA-DOB 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 HLA-DOB gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing HLA-DOB protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing HLA-DOB protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with HLA-DOB 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 HLA-DOB 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 HLA-DOB gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with HLA-DOB gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with HLA-DOB gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with HLA-DOB gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by HLA-DOB gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with HLA-DOB gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with HLA-DOB 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 HLA-DOB 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 HLA-DOB 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 HLA-DOB gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with HLA-DOB 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 HLA-DOB 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 HLA-DOB gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of HLA-DOB gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	GAD Gene-Disease Associations	diseases associated with HLA-DOB gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GAD High Level Gene-Disease Associations	diseases associated with HLA-DOB gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of HLA-DOB gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with HLA-DOB 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 HLA-DOB from the GeneSigDB Published Gene Signatures dataset.
	GEO Signatures of Differentially Expressed Genes for Diseases	disease perturbations changing expression of HLA-DOB gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.