HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
50 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-DQA1
major histocompatibility complex, class II, DQ alpha 1
Chromosome 6 · 6p21.32
NCBI Gene: 3117Ensembl: ENSG00000196735.14HGNC: HGNC:4942UniProt: A0A173ADG5
838PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
RESEARCH IMPACT
Highly Studied
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
membraneprotein bindingMHC class II protein complexMHC class II protein complex bindingPleural Mesotheliomatype 1 diabetes mellitushepatitis B virus infectionneoplasm
✦AI Summary

HLA-DQA1 encodes the alpha chain of MHC class II molecules, which present exogenous peptide antigens (10-30 residues) to CD4+ T cells on antigen-presenting cells 1. The protein functions as part of a heterodimeric complex that binds peptides processed through the endosomal-lysosomal pathway after CD74-mediated loading and CLIP removal facilitated by HLA-DM 2. HLA-DQA1 allelic variants are strongly associated with multiple autoimmune diseases through altered peptide presentation. Specific alleles confer disease risk: DQA1*03:01 and *01:01 increase type 1 diabetes (T1D) susceptibility 34, while DQA1*02:01 provides protective effects in Jordanian T1D populations 4. Similarly, HLA-DQA1*0301 increases Vogt-Koyanagi-Harada disease risk, whereas DQA1*0103, *0401, and *0501 are protective 2. Clinically, HLA-DQA1 polymorphisms influence therapeutic responses. The DQA1*05 allele increased immunogenicity to anti-TNF drugs but did not affect response to ustekinumab or vedolizumab in inflammatory bowel disease 5. HLA-DQA1 variations (rs9272346) were not significantly associated with glatiramer acetate resistance in multiple sclerosis 67. These findings suggest HLA-DQA1 genotyping may facilitate personalized risk stratification and treatment selection in autoimmune conditions.

Sources cited
1
HLA-DQA1 SNP rs2187668 was analyzed in idiopathic membranous nephropathy; PLA2R1 variants were strongly associated with IMN susceptibility
PMID: 33623956
2
HLA-DQA1*03:01 allele significantly increased T1D risk; DQA1*01:01 provided protective effects in Arab populations
PMID: 26095634
3
HLA-DQA1*0301 increased Vogt-Koyanagi-Harada disease risk (OR=4.52); DQA1*0103, *0401, *0501 alleles were protective
PMID: 29443768
4
HLA-DQA1*01:01 increased T1D susceptibility in Jordanian population; DQA1*02:01 and DQB1*05:01 provided protection
PMID: 40117003
5
HLA-DQA1*05 allele did not affect clinical response to ustekinumab or vedolizumab in IBD patients
PMID: 37314124
6
HLA-DQA1 rs9272346 variation showed no significant relationship with glatiramer acetate resistance in multiple sclerosis
PMID: 40072812
7
HLA-DQA1 rs9272346 polymorphisms did not substantially differ between MS patients and controls
PMID: 40643781
Disease Associationsⓘ20
Pleural MesotheliomaOpen 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
0.06Suggestive
achalasia-alacrima syndromeOpen Targets
0.05Suggestive
chronic kidney diseaseOpen Targets
0.05Suggestive
type 2 diabetes mellitusOpen Targets
0.05Suggestive
rheumatoid arthritisOpen Targets
0.05Suggestive
Townes-Brocks syndromeOpen Targets
0.05Suggestive
short-limb skeletal dysplasia with severe combined immunodeficiencyOpen Targets
0.05Suggestive
reticular dysgenesisOpen Targets
0.05Suggestive
systemic lupus erythematosusOpen Targets
0.05Suggestive
asthmaOpen Targets
0.05Suggestive
immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopeniasOpen Targets
0.05Suggestive
narcolepsyOpen Targets
0.04Suggestive
lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndromeOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HLA-DRB4Shared pathway100%TNFRSF25Protein interaction100%HLA-DMAProtein interaction100%HLA-DOAProtein interaction100%HLA-DOBProtein interaction100%HLA-DQA2Protein interaction100%
Tissue Expression6 tissues
Lung
100%
Heart
23%
Bone Marrow
22%
Brain
7%
Liver
6%
Ovary
3%
Gene Interaction Network
Click a node to explore
HLA-DQA1HLA-DRB4TNFRSF25HLA-DMAHLA-DOAHLA-DOBHLA-DQA2
PROTEIN STRUCTURE
Preparing viewer…
PDB1UVQ · 1.80 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.96LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF2.19 [0.93–1.96]
RankingsWhere HLA-DQA1 stands among ~20K protein-coding genes
  • #219of 20,598
    Most Researched838 · top 5%
  • #17,758of 17,882
    Most Constrained (LOEUF)1.96
Genes detectedHLA-DQA1
Sources retrieved50 papers
Response time—
📄 Sources
50▼
1
PLA2R1 and HLA-DQA1 gene variations in idiopathic membranous nephropathy in South China.
PMID: 33623956
Ann Acad Med Singap · 2021
1.00
2
PLA2R1 and HLA-DQA1 SNP in patients with primary membranous nephropathy.
PMID: 40845005
PLoS One · 2025
0.94
3
Association Analysis Between HLA-DQA1 Loci and Neuromyelitis Optica Spectrum Disorder in a Han Chinese Population.
PMID: 34873111
Neurologist · 2022
0.92
4
Association between HLA-DQA1/DRB1 polymorphism and development of hepatocellular carcinoma during entecavir treatment.
PMID: 30160782
J Gastroenterol Hepatol · 2019
0.90
5
Association of HLA-DQA1 and -DQB1 alleles with type I diabetes in Arabs: a meta-analyses.
PMID: 26095634
Tissue Antigens · 2015
0.90