HLA-DQB1
Major Histocompatibility Complex, Class II, DQ Beta 1
Gene Information Card
| Symbol | HLA-DQB1 |
|---|---|
| Full Name | Major Histocompatibility Complex, Class II, DQ Beta 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.32 |
| NCBI Gene ID | 3119 ncbi.nlm.nih.gov/gene/3119 |
| Ensembl ID | ENSG00000179344 |
| UniProt ID | P01920 |
| OMIM ID | 604305 |
| HGNC ID | 4944 |
| Aliases | HLA-DQB, IDDM1, CELIAC1 |
Description
HLA-DQB1 encodes the beta chain of the HLA-DQ heterodimer, a class II major histocompatibility complex (MHC) molecule expressed on antigen-presenting cells. It presents exogenous peptides to CD4+ T cells, initiating adaptive immune responses. Polymorphisms in HLA-DQB1 are strongly associated with susceptibility or resistance to autoimmune diseases, including type 1 diabetes, celiac disease, and rheumatoid arthritis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Type 1 Diabetes | HLA-DQB1 alleles (e.g., DQB1*0302) increase risk by altering peptide binding and T-cell recognition of pancreatic beta-cell antigens. | OMIM 222100; NCBI GeneReviews |
| Celiac Disease | HLA-DQ2 (DQB1*0201) and DQ8 (DQB1*0302) present deamidated gluten peptides to T cells, driving intestinal inflammation. | OMIM 212750; NCBI GeneReviews |
| Rheumatoid Arthritis | Shared epitope alleles in HLA-DRB1 interact with DQB1 polymorphisms to modulate disease risk. | OMIM 180300; NCBI PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 15.2 | Medium |
| Spleen | 12.8 | Medium |
| Small intestine | 8.5 | Low |
| Lung | 6.1 | Low |
| Whole blood | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| B-lymphocyte (GM12878) | 18.5 | High expression |
| Monocyte (THP-1) | 12.0 | Medium expression |
| Dendritic cell (immature) | 20.1 | High expression |
| HeLa | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| DQB1*0201 (rs2187668) | SNP | High in celiac disease (90% of patients) | Alters peptide-binding groove; increases affinity for gluten peptides. |
| DQB1*0302 (rs7453920) | SNP | High in type 1 diabetes (60% of patients) | Increases presentation of insulin-derived peptides. |
| DQB1*0602 (rs9273363) | SNP | Protective in type 1 diabetes | Reduces presentation of beta-cell autoantigens. |
Mutation functional classification
Loss of Function (LOF)
Rare null alleles (e.g., DQB1*0201 null) reduce cell-surface HLA-DQ expression, impairing antigen presentation and increasing infection susceptibility.
Gain of Function (GOF)
Not well characterized; certain alleles (e.g., DQB1*0201) enhance presentation of specific autoantigens, contributing to autoimmunity.
Dominant Negative (DN)
Not reported for HLA-DQB1; heterodimer formation with DQA1 may modulate function but not classical dominant-negative.
View complete mutation data：
Gene Ontology (GO)
| • MHC class II receptor activity (GO:0032395) | • antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886) |
| • peptide antigen binding (GO:0042605) |
Pathways
• Antigen processing and presentation (KEGG hsa04612)
• Th1 and Th2 cell differentiation (KEGG hsa04658)
• Type I diabetes mellitus (KEGG hsa04940)
Protein Summary
HLA-DQB1 is a 261-amino-acid transmembrane glycoprotein that forms the beta chain of HLA-DQ. It contains an extracellular alpha-1 and beta-1 domain, a transmembrane region, and a short cytoplasmic tail. Polymorphic residues in the peptide-binding groove determine antigen specificity and disease associations. The protein is essential for adaptive immunity and is highly expressed on B cells, dendritic cells, and macrophages.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HLA-DQB1 Knockout HEK293 Cell Line | EDJ-KQ13011 | Human | 3119 | Details Get a Quote |
| HLA-DQB1 Knockout HCT 116 Cell Line | EDJ-KQ43532 | Human | 3119 | Details Get a Quote |
| HLA-DQB1 Knockout HeLa Cell Line | EDJ-KQ53524 | Human | 3119 | Details Get a Quote |
| HLA-DQB1 Knockout A-549 Cell Line | EDJ-KQ61995 | Human | 3119 | Details Get a Quote |
