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

Gene: LOC107986589

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: HLA-DQA1

Alternate names for this Gene: CELIAC1|DQ-A1|DQA1|HLA-DQA

Gene Summary: HLA-DQA1 belongs to the HLA class II alpha chain paralogues. The class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B Lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa. It is encoded by 5 exons; exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, and exon 4 encodes the transmembrane domain and the cytoplasmic tail. Within the DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.32

Description of this Gene: major histocompatibility complex, class II, DQ alpha 1

Type of Gene: protein-coding

rs28383364 in HLA-DQA2;LOC107986589;HLA-DQA1 gene and Asthma PMID 31619474 2019 Shared genetics of asthma and mental health disorders: a large-scale genome-wide cross-trait analysis.

rs1048372 in HLA-DQA2;LOC107986589;HLA-DQA1 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs9272535 in HLA-DQA2;LOC107986589;HLA-DQA1 gene and Chronic Lymphocytic Leukemia PMID 21131588 2011 Genome-wide association study identifies a novel susceptibility locus at 6p21.3 among familial CLL.

rs9272535 in HLA-DQA2;LOC107986589;HLA-DQA1 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs9272535 in HLA-DQA2;LOC107986589;HLA-DQA1 gene and Liver carcinoma PMID 23242368 2013 Genetic variants in STAT4 and HLA-DQ genes confer risk of hepatitis B virus-related hepatocellular carcinoma.

rs9272729 in HLA-DQA2;LOC107986589;HLA-DQA1 gene and Membranous glomerulonephritis PMID 27333618 2017 Classical HLA alleles (DRB1*0301-DQA1*0501-DQB1*0201 haplotype) were associated with MN but provided little additional information beyond rs9272729.

rs9272535 in HLA-DQA2;LOC107986589;HLA-DQA1 gene and Red Blood Cell Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs9272535 in HLA-DQA2;LOC107986589;HLA-DQA1 gene and Rheumatoid Arthritis PMID 21156761 2011 A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.

rs28383408 in HLA-DQA2;LOC107986589;HLA-DQA1 gene and Sarcoidosis PMID 22952805 2012 Genome-wide association study of African and European Americans implicates multiple shared and ethnic specific loci in sarcoidosis susceptibility.

rs9272535 in HLA-DQA2;LOC107986589;HLA-DQA1 gene and Schizophrenia PMID 19571809 2009 Common variants on chromosome 6p22.1 are associated with schizophrenia.

rs9272535 in HLA-DQA2;LOC107986589;HLA-DQA1 gene and Small Lymphocytic Lymphoma PMID 21131588 2011 Genome-wide association study identifies a novel susceptibility locus at 6p21.3 among familial CLL.