HLA-DOB: Major Histocompatibility Complex, Class II, DO Beta
A non-classical MHC class II molecule involved in antigen presentation and immune regulation
Gene Information Card
| Symbol | HLA-DOB |
|---|---|
| Full Name | Major Histocompatibility Complex, Class II, DO Beta |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.32 |
| NCBI Gene ID | 3112 ncbi.nlm.nih.gov/gene/3112 |
| Ensembl ID | ENSG00000241644 |
| UniProt ID | P13765 |
| OMIM ID | 600202 |
| HGNC ID | 4933 |
| Aliases | DOB, HLA-DOB, HLA-DO beta chain |
Description
HLA-DOB encodes the beta chain of the non-classical MHC class II molecule HLA-DO. HLA-DO is expressed primarily in B cells, thymic epithelial cells, and dendritic cells. It modulates antigen presentation by inhibiting HLA-DM-mediated peptide exchange on classical MHC class II molecules, thereby influencing the repertoire of presented antigens and immune responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Rheumatoid arthritis | HLA-DOB variants may alter antigen presentation, contributing to autoimmunity | GWAS association (PMID: 24390342) |
| Type 1 diabetes | Polymorphisms in HLA-DOB linked to altered immune tolerance | Genetic association studies (PMID: 19571815) |
| Systemic lupus erythematosus | HLA-DOB expression changes may affect B cell antigen presentation | Expression QTL studies (PMID: 25642632) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 5.2 | Low |
| Spleen | 4.8 | Low |
| Bone marrow | 3.1 | Low |
| Thymus | 2.5 | Low |
| Tonsil | 6.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| B-lymphocyte (GM12878) | 7.3 | Lymphoblastoid cell line |
| Dendritic cells (immature) | 4.1 | Primary cells |
| Monocytes | 1.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs9275572 | SNP | 0.15 (global) | Intronic variant, potential regulatory effect |
| rs9275596 | SNP | 0.22 (global) | Associated with autoimmune disease risk |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • antigen processing and presentation of peptide antigen via MHC class II (GO:0002504) | • MHC class II protein complex binding (GO:0023026) |
| • MHC class II protein complex (GO:0042613) |
Pathways
• Antigen processing and presentation (KEGG hsa04612)
• Endosomal/Vacuolar pathway (Reactome R-HSA-2132295)
Protein Summary
HLA-DOB encodes the beta chain of the HLA-DO heterodimer. The mature protein is a 273-amino acid transmembrane glycoprotein that associates with HLA-DOA alpha chain to form the functional HLA-DO complex. HLA-DO is predominantly localized in endosomal compartments of B cells and thymic epithelium, where it regulates peptide loading onto classical MHC class II molecules by inhibiting HLA-DM activity. This regulation influences the selection of antigenic peptides and modulates immune responses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HLA-DOB Knockout HEK293 Cell Line | EDJ-KQ50349 | Human | 3112 | Details Get a Quote |
| HLA-DOB Knockout HeLa Cell Line | EDJ-KQ53521 | Human | 3112 | Details Get a Quote |
| HLA-DOB Knockout A-549 Cell Line | EDJ-KQ61990 | Human | 3112 | Details Get a Quote |
| HLA-DOB Knockout HCT 116 Cell Line | EDJ-KQ70472 | Human | 3112 | Details Get a Quote |
