Gene: HLA-DQA2

Alternate names for this Gene: DC-alpha|DX-ALPHA|HLA-DCA|HLA-DXA|HLADQA2

Gene Summary: This gene belongs to the HLA class II alpha chain family. The encoded protein forms a heterodimer with a class II beta chain. It is located in intracellular vesicles and plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (B lymphocytes, dendritic cells, macrophages) and are used to present antigenic peptides on the cell surface to be recognized by CD4 T-cells.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.32

Description of this Gene: major histocompatibility complex, class II, DQ alpha 2

Type of Gene: protein-coding

rs116593970 in HLA-DQA2 gene and Child Development Disorders, Pervasive PMID 28540026 2017 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.

rs17500468 in HLA-DQA2 gene and Diabetes Mellitus, Insulin-Dependent PMID 17632545 2007 A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.

rs2051598 in HLA-DQA2 gene and Hepatitis B PMID 23760081 2013 A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.

PMID 24940741 2014 We found that rs9277535 (HLA-DPB1, P = 4.87×10(-14)), rs9276370 (HLA-DQA2, P = 1.9×10(-12)), rs7756516 and rs7453920 (HLA-DQB2, P = 1.48×10(-11) and P = 6.66×10(-15) respectively) were significantly associated with persistent HBV infection.

PMID 21750111 2011 A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population.

rs9276370 in HLA-DQA2 gene and Hepatitis B, Chronic PMID 24940741 2014 A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.

rs9276423 in HLA-DQA2 gene and Influenza due to Influenza A virus subtype H1N1 PMID 26379185 2015 No Major Host Genetic Risk Factor Contributed to A(H1N1)2009 Influenza Severity.

rs2227127 in HLA-DQA2 gene and Multiple Sclerosis PMID 17660530 2007 Risk alleles for multiple sclerosis identified by a genomewide study.

rs2227127 in HLA-DQA2 gene and Narcolepsy PMID 19629137 2009 Genome-wide association database developed in the Japanese Integrated Database Project.

rs9276427 in HLA-DQA2 gene and Oral Ulcer PMID 30837455 2019 Genome wide analysis for mouth ulcers identifies associations at immune regulatory loci.

rs2051600 in HLA-DQA2 gene and Rheumatoid Arthritis PMID 21156761 2011 A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.

PMID 17804836 2007 TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.

PMID 19503088 2009 REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.

rs116593970 in HLA-DQA2 gene and Schizophrenia PMID 28540026 2017 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.