HLA-DRB3
Major Histocompatibility Complex, Class II, DR Beta 3
Gene Information Card
| Symbol | HLA-DRB3 |
|---|---|
| Full Name | Major Histocompatibility Complex, Class II, DR Beta 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.32 |
| NCBI Gene ID | 3125 ncbi.nlm.nih.gov/gene/3125 |
| Ensembl ID | ENSG00000196126 |
| UniProt ID | P79483 |
| OMIM ID | 612735 |
| HGNC ID | 4948 |
| Aliases | DRB3, HLA-DR3B, HLA-DRB3*01:01, HLA-DRB3*02:02, HLA-DRB3*03:01 |
Description
HLA-DRB3 is a protein-coding gene that belongs to the HLA class II beta chain paralogues. It encodes a cell surface glycoprotein that forms a heterodimer with an alpha chain (DRA) to present peptides derived from extracellular proteins to CD4+ T cells. This gene is highly polymorphic and plays a critical role in the immune system, particularly in antigen presentation and susceptibility to autoimmune diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Rheumatoid arthritis | HLA-DRB3 alleles (e.g., DRB3*01:01) are associated with increased risk, possibly through presentation of arthritogenic peptides. | OMIM 180300; multiple GWAS studies |
| Systemic lupus erythematosus | Certain HLA-DRB3 variants contribute to autoantibody production and immune dysregulation. | OMIM 152700; PMID 25658027 |
| Type 1 diabetes | HLA-DRB3*03:01 is part of the extended DR3 haplotype associated with increased susceptibility. | OMIM 222100; PMID 19430480 |
| Multiple sclerosis | HLA-DRB3*01:01 has been reported as a risk allele in some populations. | PMID 19525953 |
| Sarcoidosis | HLA-DRB3*01:01 is associated with Löfgren syndrome, a acute form of sarcoidosis. | OMIM 181000; PMID 20534778 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.2 | Medium |
| Bone marrow | 8.9 | Medium |
| Lung | 6.1 | Low |
| Small intestine | 5.4 | Low |
| Skin | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| B-lymphocyte (GM12878) | 15.3 | High expression |
| Monocyte (THP-1) | 12.1 | High expression |
| Dendritic cell (immature) | 18.7 | Very high expression |
| T-cell (Jurkat) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| HLA-DRB3*01:01 | Allelic variant | Common in European populations | Associated with autoimmune disease risk |
| HLA-DRB3*02:02 | Allelic variant | Common in Asian populations | Neutral or protective in some contexts |
| HLA-DRB3*03:01 | Allelic variant | Common in African populations | Associated with type 1 diabetes and lupus |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations; null alleles are rare and may impair antigen presentation.
Gain of Function (GOF)
Not described; allelic variants alter peptide-binding specificity rather than gain of function.
Dominant Negative (DN)
Not reported for HLA-DRB3.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Antigen processing and presentation (KEGG hsa04612)
• Allograft rejection (KEGG hsa05330)
• Graft-versus-host disease (KEGG hsa05332)
• Type I diabetes mellitus (KEGG hsa04940)
• Autoimmune thyroid disease (KEGG hsa05320)
Protein Summary
HLA-DRB3 encodes the beta chain of the HLA-DR3 molecule, a classical MHC class II protein. The mature protein is approximately 30 kDa and forms a heterodimer with the invariant alpha chain (HLA-DRA). It is expressed on the surface of antigen-presenting cells (B cells, dendritic cells, macrophages) and presents exogenous peptides to CD4+ T helper cells. The protein is highly polymorphic, with over 100 known alleles, and the peptide-binding groove determines the repertoire of antigens presented. HLA-DRB3 is part of the extended DR3 haplotype (DRB1*03:01-DQA1*05:01-DQB1*02:01-DRB3*01:01) and is strongly linked to autoimmune diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HLA-DRB3 Knockout HEK293 Cell Line | EDJ-KQ4881 | Human | 3125 | Details Get a Quote |
| HLA-DRB3 Knockout A-549 Cell Line | EDJ-KQ26467 | Human | 3125 | Details Get a Quote |
| HLA-DRB3 Knockout HCT 116 Cell Line | EDJ-KQ27681 | Human | 3125 | Details Get a Quote |
| HLA-DRB3 Knockout HeLa Cell Line | EDJ-KQ27682 | Human | 3125 | Details Get a Quote |
