HLA-DRB5
Major Histocompatibility Complex, Class II, DR Beta 5
Gene Information Card
| Symbol | HLA-DRB5 |
|---|---|
| Full Name | Major Histocompatibility Complex, Class II, DR Beta 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.32 |
| NCBI Gene ID | 3127 ncbi.nlm.nih.gov/gene/3127 |
| Ensembl ID | ENSG00000198502 |
| UniProt ID | Q30154 |
| OMIM ID | 604776 |
| HGNC ID | 4948 |
| Aliases | DRB5, HLA-DRB, HLA-DR5B, DR-5B, DRB1*01:02 |
Description
HLA-DRB5 is a protein-coding gene located in the MHC class II region on chromosome 6. It encodes the beta chain of the HLA-DR5 antigen, a heterodimer composed of an alpha (DRA) and a beta chain (DRB5). This molecule is expressed on antigen-presenting cells and presents peptides to CD4+ T cells, playing a critical role in adaptive immune responses. The gene is highly polymorphic, with the most common allele being HLA-DRB5*01:01. Variants in HLA-DRB5 are associated with susceptibility to multiple sclerosis and other autoimmune conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Multiple Sclerosis | HLA-DRB5*01:01 allele increases risk; altered peptide presentation to T cells may trigger autoimmunity | Multiple studies in NCBI and ClinVar |
| Systemic Lupus Erythematosus | Association with DRB5 alleles; potential role in autoantibody production | OMIM and GWAS catalog |
| Rheumatoid Arthritis | Shared epitope hypothesis; DRB5 alleles may modulate disease severity | NCBI Gene and literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.3 | Medium |
| Spleen | 10.8 | Medium |
| Bone marrow | 8.5 | Medium |
| Lung | 4.2 | Low |
| Small intestine | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| B-lymphocyte (GM12878) | 15.6 | High expression |
| Monocyte (THP-1) | 9.8 | Medium expression |
| T-cell (Jurkat) | 2.1 | Low expression |
| HeLa | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| HLA-DRB5*01:01 | Allelic variant | Common (allele frequency ~10-15% in Europeans) | Normal function; associated with MS risk |
| HLA-DRB5*01:02 | Allelic variant | Rare | Reduced peptide binding affinity |
| c.263G>A (p.Gly88Asp) | Missense | <0.1% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported; null alleles are extremely rare.
Gain of Function (GOF)
Not described; allelic variants alter peptide repertoire but not constitutive activation.
Dominant Negative (DN)
Not applicable; MHC class II molecules are co-dominantly expressed.
View complete mutation data：
Gene Ontology (GO)
| • MHC class II receptor activity | • peptide antigen binding |
| • antigen processing and presentation of exogenous peptide antigen via MHC class II | • immune response |
| • plasma membrane |
Pathways
• Antigen processing and presentation (KEGG hsa04612)
• Th1 and Th2 cell differentiation (KEGG hsa04658)
• Allograft rejection (KEGG hsa05330)
Protein Summary
HLA-DRB5 encodes a 266-amino-acid beta chain of the HLA-DR5 MHC class II molecule. The protein contains an extracellular domain (alpha-1 and beta-1), a transmembrane region, and a cytoplasmic tail. It forms a heterodimer with HLA-DRA. The beta-1 domain is highly polymorphic and determines peptide-binding specificity. The protein is essential for presenting exogenous antigens to CD4+ helper T cells, thereby initiating and regulating adaptive immune responses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HLA-DRB5 Knockout HEK293 Cell Line | EDJ-KQ4876 | Human | 3127 | Details Get a Quote |
| HLA-DRB5 Knockout HeLa Cell Line | EDJ-KQ53526 | Human | 3127 | Details Get a Quote |
| HLA-DRB5 Knockout A-549 Cell Line | EDJ-KQ61999 | Human | 3127 | Details Get a Quote |
| HLA-DRB5 Knockout HCT 116 Cell Line | EDJ-KQ70477 | Human | 3127 | Details Get a Quote |
