Gene: HLA-DQB1-AS1

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: HLA-DQB1

Alternate names for this Gene: CELIAC1|HLA-DQB|IDDM1

Gene Summary: HLA-DQB1 belongs to the HLA class II beta chain paralogs. This 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 beta chain is approximately 26-28 kDa and it contains six exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes 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. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.32

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

Type of Gene: protein-coding

rs9273410 in HLA-DQB1-AS1;HLA-DQB1 gene and Asthma PMID 30552067 2019 Moderate-to-severe asthma in individuals of European ancestry: a genome-wide association study.

rs4713572 in HLA-DQB1-AS1;HLA-DQB1 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs9273404 in HLA-DQB1-AS1;HLA-DQB1 gene and Chronic Obstructive Airway Disease PMID 30804561 2019 Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations.

rs1063355 in HLA-DQB1-AS1;HLA-DQB1 gene and Crohn Disease PMID 23266558 2013 A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.

rs1063355 in HLA-DQB1-AS1;HLA-DQB1 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 30054458 2018 Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes.

rs201043192 in HLA-DQB1-AS1;HLA-DQB1 gene and Forced expiratory volume function PMID 26423011 2015 Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): a genetic association study in UK Biobank.

rs1063348 in HLA-DQB1-AS1;HLA-DQB1 gene and Nephrotic Syndrome PMID 29903748 2018 Transethnic, Genome-Wide Analysis Reveals Immune-Related Risk Alleles and Phenotypic Correlates in Pediatric Steroid-Sensitive Nephrotic Syndrome.

rs1063355 in HLA-DQB1-AS1;HLA-DQB1 gene and 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.