HLA-DOA
Major Histocompatibility Complex, Class II, DO Alpha
Gene Information Card
| Symbol | HLA-DOA |
|---|---|
| Full Name | Major Histocompatibility Complex, Class II, DO Alpha |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.32 |
| NCBI Gene ID | 3111 ncbi.nlm.nih.gov/gene/3111 |
| Ensembl ID | ENSG00000204252 |
| UniProt ID | P06340 |
| OMIM ID | 142930 |
| HGNC ID | 4936 |
| Aliases | HLA-DO alpha, DOA, HLA-DZA |
Description
HLA-DOA encodes the alpha chain of the non-classical MHC class II molecule HLA-DO. HLA-DO is expressed primarily in B cells, thymic epithelium, and dendritic cells, where it modulates antigen presentation by inhibiting HLA-DM-mediated peptide exchange on classical MHC class II molecules. This regulation influences the repertoire of presented peptides and plays a role in immune tolerance and autoimmunity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Rheumatoid arthritis | Altered HLA-DO expression may affect presentation of self-antigens, contributing to autoimmune response. | PMID: 25428822 |
| Systemic lupus erythematosus | Polymorphisms in HLA-DOA associated with susceptibility; modulation of B cell antigen presentation. | PMID: 23544020 |
| Type 1 diabetes | HLA-DOA variants linked to altered MHC class II peptide loading and autoimmune risk. | PMID: 19017987 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 5.2 | Medium |
| Spleen | 4.8 | Medium |
| Bone marrow | 3.1 | Low |
| Thymus | 2.5 | Low |
| Lung | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| B-lymphocyte (GM12878) | 6.1 | High expression |
| Dendritic cell (monocyte-derived) | 4.5 | Moderate expression |
| THP-1 (monocyte) | 1.2 | Low expression |
| HeLa (cervical carcinoma) | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs9275572 | SNP (intronic) | 0.15 (global) | Associated with autoimmune disease risk |
| rs3129763 | SNP (intronic) | 0.22 (global) | Linked to HLA-DOA expression levels |
| c.1A>G | Missense (p.Met1Val) | <0.01 | Potential loss of start codon; functional impact unknown |
Mutation functional classification
Loss of Function (LOF)
Rare missense or start-loss variants may impair HLA-DO alpha chain synthesis or stability, reducing HLA-DO surface expression and altering antigen presentation.
Gain of Function (GOF)
Not reported; gain-of-function mutations are not described for HLA-DOA.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for HLA-DOA.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Antigen processing and presentation (KEGG hsa04612)
• Endosomal/Vacuolar pathway (Reactome R-HSA-2132295)
Protein Summary
HLA-DOA encodes the alpha chain of HLA-DO, a non-classical MHC class II molecule. The mature protein forms a heterodimer with HLA-DOB (beta chain) and localizes to endosomal/lysosomal compartments in antigen-presenting cells. HLA-DO binds to HLA-DM and inhibits its peptide-exchange activity, thereby modulating the peptide repertoire loaded onto classical MHC class II molecules. This regulation is critical for B cell-mediated immunity and central tolerance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HLA-DOA Knockout HEK293 Cell Line | EDJ-KQ4871 | Human | 3111 | Details Get a Quote |
| HLA-DOA Knockout HeLa Cell Line | EDJ-KQ53520 | Human | 3111 | Details Get a Quote |
| HLA-DOA Knockout A-549 Cell Line | EDJ-KQ61989 | Human | 3111 | Details Get a Quote |
| HLA-DOA Knockout HCT 116 Cell Line | EDJ-KQ70471 | Human | 3111 | Details Get a Quote |
