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-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: 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

rs2187668 in LOC107986589;HLA-DQA2;HLA-DQA1 gene and Adenocarcinoma of lung (disorder) PMID 19836008 2009 A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.

rs2187668 in LOC107986589;HLA-DQA2;HLA-DQA1 gene and Asthma PMID 21150878 2011 Association between ORMDL3, IL1RL1 and a deletion on chromosome 17q21 with asthma risk in Australia.

rs2187668 in LOC107986589;HLA-DQA2;HLA-DQA1 gene and Autoimmune Chronic Hepatitis PMID 24768677 2014 Genome-wide association study identifies variants associated with autoimmune hepatitis type 1.

rs2187668 in LOC107986589;HLA-DQA2;HLA-DQA1 gene and Autoimmune Hepatitis with Centrilobular Necrosis PMID 24768677 2014 Genome-wide association study identifies variants associated with autoimmune hepatitis type 1.

rs2187668 in LOC107986589;HLA-DQA2;HLA-DQA1 gene and Celiac Disease PMID 20190752 2010 Multiple common variants for celiac disease influencing immune gene expression.

PMID 17558408 2007 A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21.

rs2187668 in LOC107986589;HLA-DQA2;HLA-DQA1 gene and Colitis, Collagenous PMID 26525574 2017 Dense genotyping of immune-related loci identifies HLA variants associated with increased risk of collagenous colitis.

rs2187668 in LOC107986589;HLA-DQA2;HLA-DQA1 gene and Diabetes Mellitus, Insulin-Dependent PMID 17632545 2007 A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.

rs2187668 in LOC107986589;HLA-DQA2;HLA-DQA1 gene and Diastolic blood pressure PMID 27618452 2016 The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.

rs2187668 in LOC107986589;HLA-DQA2;HLA-DQA1 gene and Immunoglobulin A measurement PMID 20694011 2010 Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.

rs2187668 in LOC107986589;HLA-DQA2;HLA-DQA1 gene and Inflammatory Bowel Diseases PMID 28008999 2016 Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.

rs2187668 in LOC107986589;HLA-DQA2;HLA-DQA1 gene and Lupus Erythematosus, Cutaneous PMID 25827949 2015 Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.

rs2187668 in LOC107986589;HLA-DQA2;HLA-DQA1 gene and Lupus Erythematosus, Systemic PMID 18204098 2008 Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.

PMID 24871463 2014 GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.

PMID 21408207 2011 Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.

PMID 26316170 2016 Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry.

rs2187668 in LOC107986589;HLA-DQA2;HLA-DQA1 gene and Malignant neoplasm of lung PMID 19654303 2009 Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study.

PMID 22899653 2012 Influence of common genetic variation on lung cancer risk: meta-analysis of 14 900 cases and 29 485 controls.

rs2187668 in LOC107986589;HLA-DQA2;HLA-DQA1 gene and Membranous glomerulonephritis PMID 21323541 2011 Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.

rs2187668 in LOC107986589;HLA-DQA2;HLA-DQA1 gene and Myasthenia Gravis PMID 23055271 2012 Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08.

rs9272723 in LOC107986589;HLA-DQA2;HLA-DQA1 gene and Narcolepsy PMID 19629137 2009 Genome-wide association database developed in the Japanese Integrated Database Project.

rs2187668 in LOC107986589;HLA-DQA2;HLA-DQA1 gene and Protein measurement PMID 20694011 2010 Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.

rs2187668 in LOC107986589;HLA-DQA2;HLA-DQA1 gene and Rheumatoid Arthritis PMID 17804836 2007 TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.

PMID 21156761 2011 A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.

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

rs2187668 in LOC107986589;HLA-DQA2;HLA-DQA1 gene and Sarcoidosis PMID 26651848 2016 High-Density Genetic Mapping Identifies New Susceptibility Variants in Sarcoidosis Phenotypes and Shows Genomic-driven Phenotypic Differences.

PMID 22952805 2012 Genome-wide association study of African and European Americans implicates multiple shared and ethnic specific loci in sarcoidosis susceptibility.