HLA-DMB Gene

HGNC Family	Immunoglobulin superfamily domain containing, Histocompatibility complex (HLA)
Name	major histocompatibility complex, class II, DM beta
Description	HLA-DMB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DMA) and a beta (DMB) chain, both anchored in the membrane. It is located in intracellular vesicles. DM plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP (class II-associated invariant chain peptide) molecule from the peptide binding site. 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‐DMB is a key component of the major histocompatibility complex (MHC) class II antigen presentation machinery that plays important roles in processing and loading peptides onto MHC class II molecules. In tumor cells—for example, in ovarian cancer—elevated HLA‐DMB expression is associated with increased infiltration of CD8+ T lymphocytes and improved overall survival outcomes."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In inflammatory diseases, genetic variations in HLA‐DMB have been linked to disease severity; distinct alleles correlate with enhanced joint damage in rheumatoid arthritis"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": "and with susceptibility to trichloroethylene‐induced medicamentosa‐like dermatitis (TIMLD)."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " In the context of immune‐mediated inflammatory disorders such as rosacea, HLA‐DMB has been highlighted among gene regions linked to immuno‐inflammatory phenotypes"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": ", whereas in HIV‐related Kaposi’s sarcoma, an intronic variant in HLA‐DMB is associated with a markedly increased risk, emphasizing its role in antigen processing pathways."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": " Moreover, studies in cancer cell models have shown that factors such as DDX41 can upregulate HLA‐DMB expression, suggesting a link between modulation of antigen presentation and anticancer immune responses."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Population‐based analyses further document the polymorphic distribution of HLA‐DMB alleles, underscoring its immunogenetic importance in different ethnic groups."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": " In addition, dysregulation of HLA‐DMB expression features in other pathological settings. For instance, in bronchopulmonary dysplasia the gene emerges as one of several immune and antigen‐processing hubs, while in immune challenge models such as controlled human Plasmodium vivax infection, HLA‐DMB is induced as part of an interferon‐γ–driven gene signature."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": " Similarly, in inflammatory myopathies the upregulation of HLA‐DMB, alongside other MHC class II–related genes, marks a robust type II interferon response."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "11"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Transcriptional regulators have also been implicated in governing HLA‐DMB expression. For example, the proteasome regulatory subunit Sug1 facilitates the recruitment of transcription factors, such as the class II transactivator (CIITA), to the HLA‐DM promoter region, thereby linking protein degradation pathways with effective antigen presentation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "12"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Collectively, these studies illustrate that HLA‐DMB is not only essential for antigen processing and presentation but also functions as a biomarker whose expression and genetic variability can influence immune responses and clinical outcomes across a spectrum of diseases—from cancer to autoimmune and infectious conditions.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Michael J Callahan, Zoltan Nagymanyoki, Tomas Bonome, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Increased HLA-DMB expression in the tumor epithelium is associated with increased CTL infiltration and improved prognosis in advanced-stage serous ovarian cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Cancer Res (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1158/1078-0432.CCR-08-0479"}], "href": "https://doi.org/10.1158/1078-0432.CCR-08-0479"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19047092"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19047092"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "V Bjerkeli, B Halvorsen, J K Damås, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Expression of matrix metalloproteinases in patients with Wegener's granulomatosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ann Rheum Dis (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1136/ard.2003.017954"}], "href": "https://doi.org/10.1136/ard.2003.017954"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15547092"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15547092"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Fei Yue, Han-Lin Huang, Jian-Xun Huang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "HLA-DM polymorphism and risk of trichloroethylene induced medicamentosa-like dermatitis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biomed Environ Sci (2007)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18348411"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18348411"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Fei Yue, Han-lin Huang, Zhen-lie Huang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "[Relationship of trichloroethylene-induced medicamentosa like dermatitis to HLA-DMA and HLA-DMB]."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi (2006)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16737583"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16737583"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Jennifer L Aponte, Mathias N Chiano, Laura M Yerges-Armstrong, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Assessment of rosacea symptom severity by genome-wide association study and expression analysis highlights immuno-inflammatory and skin pigmentation genes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddy184"}], "href": "https://doi.org/10.1093/hmg/ddy184"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29771307"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29771307"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "B Aissani, A K Boehme, H W Wiener, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SNP screening of central MHC-identified HLA-DMB as a candidate susceptibility gene for HIV-related Kaposi's sarcoma."}]}, {"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.2014.42"}], "href": "https://doi.org/10.1038/gene.2014.42"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25008864"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25008864"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Kai Qin, Danni Jian, Yaqiang Xue, et al. "}, {"type": "b", "children": [{"type": "t", "text": "DDX41 regulates the expression and alternative splicing of genes involved in tumorigenesis and immune response."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncol Rep (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3892/or.2021.7951"}], "href": "https://doi.org/10.3892/or.2021.7951"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33650667"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33650667"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "M L Feng, R Z Liu, T Shen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Analysis of HLA-DM polymorphisms in the Chinese Han population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Tissue Antigens (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1399-0039.2012.01838.x"}], "href": "https://doi.org/10.1111/j.1399-0039.2012.01838.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22309257"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22309257"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Junyan Gao, Mingfu Wu, Fudong Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "CD74, a novel predictor for bronchopulmonary dysplasia in preterm infants."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Medicine (Baltimore) (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1097/MD.0000000000023477"}], "href": "https://doi.org/10.1097/MD.0000000000023477"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33235138"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33235138"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Andres F Vallejo, Robert C Read, Myriam Arevalo-Herrera, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Malaria systems immunology: Plasmodium vivax induces tolerance during primary infection through dysregulation of neutrophils and dendritic cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Infect (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jinf.2018.09.005"}], "href": "https://doi.org/10.1016/j.jinf.2018.09.005"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30248353"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30248353"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Seokjin Ham, Jae-Bum Bae, Suman Lee, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Epigenetic analysis in rheumatoid arthritis synoviocytes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Exp Mol Med (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s12276-019-0215-5"}], "href": "https://doi.org/10.1038/s12276-019-0215-5"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30820026"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30820026"}]}, {"type": "r", "ref": 12, "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"}]}]}]}
Synonyms	D6S221E, RING7
Proteins	DMB_HUMAN
NCBI Gene ID	3109
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

HLA-DMB has 5,407 functional associations with biological entities spanning 8 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) extracted from 110 datasets.

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

If available, associations are ranked by standardized value

Harmonizome 3.0

HLA-DMB Gene

Functional Associations

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

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by HLA-DMB gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of HLA-DMB 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-DMB 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-DMB 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 HLA-DMB 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 HLA-DMB 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-DMB 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-DMB 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-DMB 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-DMB 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-DMB 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-DMB gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with HLA-DMB protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with HLA-DMB 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-DMB gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of HLA-DMB 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-DMB gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of HLA-DMB gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing HLA-DMB protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing HLA-DMB protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with HLA-DMB 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-DMB protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with HLA-DMB gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with HLA-DMB gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with HLA-DMB gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with HLA-DMB 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-DMB gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving HLA-DMB gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with HLA-DMB 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-DMB 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-DMB 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-DMB gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with HLA-DMB 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-DMB 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-DMB gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of HLA-DMB 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 HLA-DMB from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with HLA-DMB 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-DMB 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-DMB gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.