HLA-DRB4
Major Histocompatibility Complex, Class II, DR Beta 4
Gene Information Card
| Symbol | HLA-DRB4 |
|---|---|
| Full Name | Major Histocompatibility Complex, Class II, DR Beta 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.32 |
| NCBI Gene ID | 3126 ncbi.nlm.nih.gov/gene/3126 |
| Ensembl ID | ENSG00000206305 |
| UniProt ID | P13762 |
| OMIM ID | 142857 |
| HGNC ID | 4948 |
| Aliases | DRB4, HLA-DR4B, HLA-DRB4*01, DR-53 |
Description
HLA-DRB4 is a member of the HLA class II beta chain paralogues. It encodes the beta chain of the HLA-DR53 serotype, which is expressed on antigen-presenting cells. This gene plays a critical role in the immune system by presenting peptides derived from extracellular proteins to CD4+ T cells. Polymorphisms in HLA-DRB4 are associated with susceptibility to autoimmune diseases such as rheumatoid arthritis and multiple sclerosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Rheumatoid Arthritis | HLA-DRB4 alleles (e.g., DRB4*01) contribute to shared epitope risk | PMID: 12469122 |
| Multiple Sclerosis | HLA-DRB4*01:01 associated with increased risk in certain populations | PMID: 19525953 |
| Type 1 Diabetes | HLA-DRB4 haplotypes modulate disease susceptibility | PMID: 17054678 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.2 | Medium |
| Blood | 8.9 | Low |
| Bone marrow | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| B-lymphocyte (GM12878) | 15.1 | High expression |
| Monocyte (THP-1) | 11.4 | Medium expression |
| T-cell (Jurkat) | 2.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.266G>A (p.Arg89His) | Missense | <0.01% | Alters peptide binding groove; potential autoimmune association |
| c.343C>T (p.Arg115Trp) | Missense | <0.01% | Reduced cell surface expression |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the beta sheet domain can impair peptide binding and surface expression.
Gain of Function (GOF)
Not reported for HLA-DRB4.
Dominant Negative (DN)
Not applicable; HLA class II molecules require pairing with alpha chain.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Antigen processing and presentation (KEGG hsa04612)
• Allograft rejection (KEGG hsa05330)
• Autoimmune thyroid disease (KEGG hsa05320)
Protein Summary
HLA-DRB4 encodes a 266-amino acid beta chain of the HLA-DR53 molecule. The mature protein forms a heterodimer with the HLA-DRA alpha chain, creating a peptide-binding groove that presents antigens to CD4+ T cells. The protein is highly polymorphic, particularly in the antigen-binding domain, influencing immune response variability and disease association.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HLA-DRB4 Knockout HEK293 Cell Line | EDJ-KQ4081 | Human | 3126 | Details Get a Quote |
| HLA-DRB4 Knockout A-549 Cell Line | EDJ-KQ27664 | Human | 3126 | Details Get a Quote |
| HLA-DRB4 Knockout HCT 116 Cell Line | EDJ-KQ27666 | Human | 3126 | Details Get a Quote |
| HLA-DRB4 Knockout HeLa Cell Line | EDJ-KQ27667 | Human | 3126 | Details Get a Quote |
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