HLA-DQB2
Major Histocompatibility Complex, Class II, DQ Beta 2
Gene Information Card
| Symbol | HLA-DQB2 |
|---|---|
| Full Name | Major Histocompatibility Complex, Class II, DQ Beta 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.32 |
| NCBI Gene ID | 3120 ncbi.nlm.nih.gov/gene/3120 |
| Ensembl ID | ENSG00000243466 |
| UniProt ID | P05538 |
| OMIM ID | 615161 |
| HGNC ID | 4945 |
| Aliases | HLA-DQB1, HLA-DQB, HLA-DX beta |
Description
HLA-DQB2 is a protein-coding gene located in the MHC class II region on chromosome 6. It encodes the beta chain of the HLA-DQ heterodimer, which is involved in antigen presentation to CD4+ T cells. The gene is primarily expressed in immune cells and plays a role in immune response regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Celiac disease | HLA-DQB2 variants may influence DQ2.2 heterodimer formation and gluten peptide presentation | GWAS and association studies |
| Type 1 diabetes | Altered DQ beta chain expression affects autoantigen presentation | Genetic association studies |
| Rheumatoid arthritis | MHC class II allele interactions including DQB2 modulate disease risk | Case-control studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.3 | Medium |
| Bone marrow | 8.1 | Low |
| Lung | 4.2 | Low |
| Small intestine | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| B-lymphocyte (GM12878) | 15.2 | 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 |
|---|---|---|---|
| c.253G>A (p.Gly85Arg) | Missense | <0.01% | Alters peptide binding groove |
| c.487C>T (p.Pro163Ser) | Missense | <0.01% | Potential effect on dimer stability |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar.
Gain of Function (GOF)
No gain-of-function variants described.
Dominant Negative (DN)
Not documented.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Antigen processing and presentation (KEGG hsa04612)
• Th1 and Th2 cell differentiation (KEGG hsa04658)
• Allograft rejection (KEGG hsa05330)
Protein Summary
HLA-DQB2 encodes the beta chain of the HLA-DQ MHC class II molecule. The protein forms a heterodimer with the alpha chain (HLA-DQA2) and is expressed on antigen-presenting cells. It binds peptides derived from extracellular proteins and presents them to CD4+ T cells, initiating adaptive immune responses. The DQ beta 2 chain is less polymorphic than its classical counterpart DQB1 but may contribute to autoimmune disease susceptibility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HLA-DQB2 Knockout HEK293 Cell Line | EDJ-KQ4882 | Human | 3120 | Details Get a Quote |
| HLA-DQB2 Knockout HeLa Cell Line | EDJ-KQ53525 | Human | 3120 | Details Get a Quote |
| HLA-DQB2 Knockout A-549 Cell Line | EDJ-KQ61996 | Human | 3120 | Details Get a Quote |
| HLA-DQB2 Knockout HCT 116 Cell Line | EDJ-KQ70476 | Human | 3120 | Details Get a Quote |
