HLA-DPB1
Major Histocompatibility Complex, Class II, DP Beta 1
Gene Information Card
| Symbol | HLA-DPB1 |
|---|---|
| Full Name | Major Histocompatibility Complex, Class II, DP Beta 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p21.32 |
| NCBI Gene ID | 3115 ncbi.nlm.nih.gov/gene/3115 |
| Ensembl ID | ENSG00000223865 |
| UniProt ID | P04440 |
| OMIM ID | 142858 |
| HGNC ID | 4940 |
| Aliases | DPB1, HLA-DP1B, HLA-DPB |
Description
HLA-DPB1 encodes the beta chain of the HLA-DP class II molecule, a heterodimer expressed on antigen-presenting cells. It presents peptides derived from extracellular proteins to CD4+ T cells, playing a central role in adaptive immunity. Polymorphisms in HLA-DPB1 are associated with susceptibility to autoimmune diseases and transplantation outcomes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Berylliosis (Chronic Beryllium Disease) | HLA-DPB1 Glu69 variant increases peptide binding affinity for beryllium, triggering CD4+ T-cell activation and granulomatous inflammation. | OMIM 142858, ClinVar |
| Rheumatoid Arthritis | Specific HLA-DPB1 alleles (e.g., *0401) contribute to shared epitope risk via altered antigen presentation. | NCBI Gene, OMIM |
| Graft-versus-Host Disease (GVHD) | HLA-DPB1 mismatches in hematopoietic stem cell transplantation increase alloreactive T-cell responses. | ClinVar, NCBI Gene |
| Sarcoidosis | HLA-DPB1*0101 allele associated with disease susceptibility and prognosis. | OMIM, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.3 | Medium |
| Spleen | 10.8 | Medium |
| Lung | 6.5 | Low |
| Small intestine | 5.2 | Low |
| Whole blood | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| B-lymphocyte (GM12878) | 18.7 | High expression |
| Monocyte (THP-1) | 14.2 | High expression |
| Dendritic cell (immature) | 22.5 | Very high expression |
| HeLa | 0.8 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Glu69 (rs1042151) | missense | Common (allele frequency ~0.3 in Europeans) | Alters peptide-binding groove; associated with berylliosis and autoimmune disease risk. |
| Val36 (rs9277534) | missense | Common (allele frequency ~0.4) | Modulates DP surface expression and alloreactivity in transplantation. |
| c.224G>A (p.Arg75His) | missense | Rare (<0.01) | Reported in association with sarcoidosis; functional impact unclear. |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function variants reported in HLA-DPB1; complete loss likely lethal due to immune deficiency.
Gain of Function (GOF)
Glu69 variant may confer gain-of-function by enhancing beryllium peptide presentation, leading to chronic inflammation.
Dominant Negative (DN)
Not described; HLA-DP heterodimer requires both alpha and beta chains, but no dominant-negative alleles known.
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-DPB1 encodes the beta chain of the HLA-DP class II molecule. The mature protein (UniProt P04440) is 258 amino acids long, with a molecular weight of ~29 kDa. It forms a heterodimer with HLA-DPA1 alpha chain, creating a peptide-binding groove that presents exogenous antigens to CD4+ T cells. The protein is highly polymorphic, especially in the peptide-binding domain, influencing immune response diversity and disease susceptibility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HLA-DPB1 Knockout HEK293 Cell Line | EDJ-KQ4873 | Human | 3115 | Details Get a Quote |
| HLA-DPB1 Knockout HCT 116 Cell Line | EDJ-KQ27662 | Human | 3115 | Details Get a Quote |
| HLA-DPB1 Knockout HeLa Cell Line | EDJ-KQ27663 | Human | 3115 | Details Get a Quote |
| HLA-DPB1 Knockout A-549 Cell Line | EDJ-KQ61992 | Human | 3115 | Details Get a Quote |
