HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
HLA-DQA2
major histocompatibility complex, class II, DQ alpha 2
Chromosome 6 · 6p21.32
NCBI Gene: 3118Ensembl: ENSG00000206301.9HGNC: HGNC:4943UniProt: P01906
94PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindinglate endosome membraneMHC class II protein complexMHC class II protein complex bindingAlzheimer diseaseParkinson diseasemultiple sclerosisneurodegenerative disease
✦AI Summary

HLA-DQA2 is a major histocompatibility complex class II alpha chain that functions in antigen presentation to CD4+ T cells. As part of the HLA-DQ molecule, HLA-DQA2 binds peptides derived from exogenous antigens processed through the endocytic pathway and displays them on antigen-presenting cell surfaces 1. Unlike the canonical HLA-DQA1/DQB1 pair, HLA-DQA2 expression is restricted to specific cell types, particularly Langerhans cells in human epidermis, where it forms functional heterodimers with HLA-DQβ2 chains that localize to early endosomes and cell surfaces 2. HLA-DQA2 can also form mixed heterodimers with HLA-DQβ1 chains, potentially expanding antigen presentation complexity 2. Clinically, HLA-DQA2 has emerged as a disease-associated target in multiple conditions. High pre-infection HLA-DQA2 expression was associated with prevention of sustained SARS-CoV-2 infection in nasopharyngeal tissue 3. HLA-DQA2 has been identified as a shared genetic target between Parkinson's disease and inflammatory bowel disease through gut-brain axis mechanisms 4. Additionally, HLA-DQA2 was identified in glomerulonephritis pathology, particularly in membranous nephropathy 5, and proteome-wide Mendelian randomization studies identified HLA-DQA2 as a direct causal target for primary sclerosing cholangitis risk 6, suggesting therapeutic potential in autoimmune cholestatic liver disease.

Sources cited
1
HLA-DQA2 mRNA is expressed in human B lymphoblastoid cell lines
PMID: 1753107
2
HLA-DQA2 and HLA-DQB2 genes are specifically expressed in Langerhans cells, form functional heterodimers localized in early endosomes and cell surface, and can form mixed heterodimers with HLA-DQβ1
PMID: 22407913
3
High expression of HLA-DQA2 before SARS-CoV-2 inoculation was associated with preventing sustained infection
PMID: 38898278
4
HLA-DQA2 identified as a druggable target gene shared between Parkinson's disease and inflammatory bowel disease via Mendelian randomization
PMID: 39799347
5
HLA-DQA2 is a high-expressed gene in membranous nephropathy by single-cell RNA sequencing
PMID: 33754492
6
HLA-DQA2 identified as a direct causal target for primary sclerosing cholangitis through proteome-wide Mendelian randomization and colocalization analysis
PMID: 37950809
Disease Associationsⓘ20
Alzheimer diseaseOpen Targets
0.32Weak
Parkinson diseaseOpen Targets
0.32Weak
multiple sclerosisOpen Targets
0.31Weak
neurodegenerative diseaseOpen Targets
0.31Weak
lysosomal storage diseaseOpen Targets
0.31Weak
allergic rhinitisOpen Targets
0.12Weak
vasomotor rhinitisOpen Targets
0.12Weak
type 1 diabetes mellitusOpen Targets
0.10Suggestive
hepatitis B virus infectionOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.08Suggestive
esophageal squamous cell carcinomaOpen Targets
0.08Suggestive
ulcerative colitisOpen Targets
0.06Suggestive
hepatocellular carcinomaOpen Targets
0.06Suggestive
gestational diabetesOpen Targets
0.05Suggestive
achalasia-alacrima syndromeOpen Targets
0.05Suggestive
chronic kidney diseaseOpen Targets
0.05Suggestive
rheumatoid arthritisOpen Targets
0.05Suggestive
type 2 diabetes mellitusOpen Targets
0.05Suggestive
Townes-Brocks syndromeOpen Targets
0.05Suggestive
short-limb skeletal dysplasia with severe combined immunodeficiencyOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HLA-DRB4Shared pathway100%HLA-DMAProtein interaction100%HLA-DOAProtein interaction100%HLA-DOBProtein interaction100%HLA-DQA1Protein interaction100%CD74Protein interaction99%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
66%
Heart
37%
Brain
20%
Liver
8%
Ovary
3%
Gene Interaction Network
Click a node to explore
HLA-DQA2HLA-DRB4HLA-DMAHLA-DOAHLA-DOBHLA-DQA1CD74
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P01906
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.27LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.85 [0.58–1.27]
RankingsWhere HLA-DQA2 stands among ~20K protein-coding genes
  • #5,088of 20,598
    Most Researched94 · top quartile
  • #13,429of 17,882
    Most Constrained (LOEUF)1.27
Genes detectedHLA-DQA2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Synovial cell cross-talk with cartilage plays a major role in the pathogenesis of osteoarthritis.
PMID: 32616761
Sci Rep · 2020
1.00
2
Human SARS-CoV-2 challenge uncovers local and systemic response dynamics.
PMID: 38898278
Nature · 2024
0.90
3
Possible linking and treatment between Parkinson's disease and inflammatory bowel disease: a study of Mendelian randomization based on gut-brain axis.
PMID: 39799347
J Transl Med · 2025
0.80
4
Genetic Influence of the Brain on Muscle Structure: A Mendelian Randomization Study of Sarcopenia.
PMID: 39535371
J Cachexia Sarcopenia Muscle · 2025
0.70
5
A single-cell survey of the human glomerulonephritis.
PMID: 33754492
J Cell Mol Med · 2021
0.60