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50 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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HLA-DQB1
major histocompatibility complex, class II, DQ beta 1
Chromosome 6 · 6p21.32
NCBI Gene: 3119Ensembl: ENSG00000179344HGNC: HGNC:4944UniProt: P01920
1,556PubMed Papers
0Diseases
0Drugs
1Pathogenic Variants
RESEARCH IMPACT
Highly StudiedTrending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
antigen processing and presentation of exogenous peptide antigen via MHC class IIprotein bindingT cell receptor signaling pathwayhumoral immune response
✦AI Summary

HLA-DQB1 is a major histocompatibility complex class II beta chain that functions as a critical antigen-presenting molecule. It forms heterodimeric complexes with HLA-DQA1 alpha chains to present exogenous peptide antigens (10-30 residues) to CD4+ T cells, initiating adaptive immune responses [PMID:UniProt annotation]. The protein binds peptides from endocytosed antigens in acidified endosomal/lysosomal compartments, where CD74-associated invariant chains are proteolytically removed by CTSS/CTSL proteases, followed by HLA-DM-mediated CLIP peptide exchange to facilitate high-affinity antigenic peptide loading. Clinically, HLA-DQB1 polymorphisms show significant disease associations. The DQB1*0602 allele demonstrates tight association with narcolepsy-cataplexy, suggesting autoimmune etiology 1. Regarding cervical cancer, meta-analysis of 4,862 cases identified protective alleles (DQB1*02, *03, *0603) and risk alleles (DQB1*05, *0301, *0402) based on HPV immunologic control 2. HLA-DQB1*02:01 carrier status correlates with reduced serum IgA levels in immunodeficiency patients 3. In systemic lupus erythematosus, DQB1*02 and *06 confer increased disease risk, while DQB1*03 shows protective effects 4. Additionally, HLA-DQB1*02 allele presence increases suicidal behavior risk 5. These associations demonstrate HLA-DQB1's central role in immunological disease susceptibility and immune regulation.

Sources cited
1
HLA-DQB1*0602 allele shows tight association with narcolepsy-cataplexy, suggesting autoimmune etiology
PMID: 14527309
2
HLA-DQB1 allele polymorphisms (DQB1*02, *03, *0603 protective; DQB1*05, *0301, *0402 risk) affect cervical cancer susceptibility through HPV immunologic control
PMID: 26211583
3
HLA-DQB1*02:01 allelic status associates with reduced total serum IgA levels in IgA-deficient patients
PMID: 37725324
4
HLA-DQB1*02 and *06 alleles associate with increased systemic lupus erythematosus risk; DQB1*03 shows protective effect
PMID: 38653667
5
HLA-DQB1*02 allele presence increases risk of suicidal behavior
PMID: 31408207
Pathogenic Variants1
NM_002123.5(HLA-DQB1):c.370_379+2delLikely pathogenic
Susceptibility to severe COVID-19
★☆☆☆2024
View on ClinVar ↗
Related Genes
HLA-DRAProtein interaction100%LCKProtein interaction100%CD8AProtein interaction100%TNFRSF25Protein interaction100%CD74Protein interaction100%HLA-BProtein interaction100%
Tissue Expression

No tissue expression data available for this gene.

Gene Interaction Network
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HLA-DQB1HLA-DRALCKCD8ATNFRSF25CD74HLA-B
PROTEIN STRUCTURE
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PDB1UVQ · 1.80 Å · X-ray
View on RCSB ↗
RankingsWhere HLA-DQB1 stands among ~20K protein-coding genes
  • #79of 20,598
    Most Researched1,556 · top 1%
  • #4,598of 5,498
    Most Pathogenic Variants1
Genes detectedHLA-DQB1
Sources retrieved50 papers
Response time—
📄 Sources
50▼
1
[Analysis of Gene Recombination between
PMID: 37356951
Zhongguo Shi Yan Xue Ye Xue Za Zhi · 2023
1.00
2
Total serum IgA levels and HLA-DQB1*02:01 allelic status.
PMID: 37725324
Immunol Res · 2024
0.90
3
Study on the Relationship between Unexplained Recurrent Abortion and HLA-DQ Gene Polymorphism.
PMID: 36072716
Comput Intell Neurosci · 2022
0.90
4
Immunogenetics of heteroclitic recognition of HLA-DQB1 55R eplet specificity by human alloantibody.
PMID: 34815108
Hum Immunol · 2022
0.88
5
HLA-DQB1 codon 57 and IDDM in Chinese living in Taiwan.
PMID: 7956632
Diabetes Care · 1994
0.86