HLA-DQA2
Major Histocompatibility Complex, Class II, DQ Alpha 2
Gene Information Card
| Symbol | HLA-DQA2 |
|---|---|
| Full Name | Major Histocompatibility Complex, Class II, DQ Alpha 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p21.32 |
| NCBI Gene ID | 3118 ncbi.nlm.nih.gov/gene/3118 |
| Ensembl ID | ENSG00000204308 |
| UniProt ID | P01906 |
| OMIM ID | 613503 |
| HGNC ID | 4934 |
| Aliases | HLA-DXA, HLA-DQA1-like, DQ-A2 |
Description
HLA-DQA2 is a protein-coding gene located in the major histocompatibility complex (MHC) class II region on chromosome 6p21.32. It encodes the alpha chain of the HLA-DQ heterodimer, which is involved in antigen presentation to CD4+ T cells. The gene is highly polymorphic and is associated with susceptibility to autoimmune diseases such as type 1 diabetes and celiac disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Celiac disease | HLA-DQA2 variants alter peptide binding affinity, leading to inappropriate T-cell activation against gluten peptides | OMIM 212750 |
| Type 1 diabetes | Specific HLA-DQA2 alleles contribute to autoimmune destruction of pancreatic beta cells via altered antigen presentation | OMIM 222100 |
| Rheumatoid arthritis | HLA-DQA2 polymorphisms influence presentation of self-antigens, promoting autoreactive T-cell responses | OMIM 180300 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.2 | Medium |
| Small intestine | 8.7 | Low |
| Lung | 6.3 | Low |
| Bone marrow | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| B-lymphocyte (GM12878) | 15.3 | High expression |
| Monocyte (THP-1) | 9.8 | Medium expression |
| Dendritic cell (immature) | 11.2 | Medium expression |
| T-cell (Jurkat) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs9272346 | SNP | 0.45 (global) | Associated with altered HLA-DQ expression and autoimmune risk |
| rs2187668 | SNP | 0.32 (European) | Linked to celiac disease susceptibility |
| rs7453920 | SNP | 0.28 (Asian) | Associated with type 1 diabetes risk |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
Not documented.
Dominant Negative (DN)
Not documented.
View complete mutation data：
Gene Ontology (GO)
| • MHC class II receptor activity | • antigen binding |
| • immune response | • peptide antigen binding |
| • plasma membrane |
Pathways
• Antigen processing and presentation (KEGG hsa04612)
• Allograft rejection (KEGG hsa05330)
• Type I diabetes mellitus (KEGG hsa04940)
Protein Summary
HLA-DQA2 encodes the alpha chain of the HLA-DQ class II molecule. This transmembrane protein forms a heterodimer with HLA-DQB1 to present exogenous peptides to CD4+ T helper cells. The alpha chain contains two extracellular domains (alpha-1 and alpha-2), a transmembrane region, and a short cytoplasmic tail. Polymorphisms in the peptide-binding groove influence antigen specificity and autoimmune disease susceptibility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HLA-DQA2 Knockout HEK293 Cell Line | EDJ-KQ4875 | Human | 3118 | Details Get a Quote |
| HLA-DQA2 Knockout HeLa Cell Line | EDJ-KQ53523 | Human | 3118 | Details Get a Quote |
| HLA-DQA2 Knockout A-549 Cell Line | EDJ-KQ61994 | Human | 3118 | Details Get a Quote |
| HLA-DQA2 Knockout HCT 116 Cell Line | EDJ-KQ70475 | Human | 3118 | Details Get a Quote |
