HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
Gene ID: 3119, updated on 22-Apr-2024Gene type: protein coding
Also known as: IDDM1; CELIAC1; HLA-DQB
- See all available tests in GTR for this gene
- Go to complete Gene record for HLA-DQB1
- Go to Variation Viewer for HLA-DQB1 variants
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. [provided by RefSeq, Sep 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci. GeneReviews: Not available | |
| A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population. GeneReviews: Not available | |
| A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population. GeneReviews: Not available | |
| A genome-wide association study reveals ARL15, a novel non-HLA susceptibility gene for rheumatoid arthritis in North Indians. GeneReviews: Not available | |
| A genome-wide integrative genomic study localizes genetic factors influencing antibodies against Epstein-Barr virus nuclear antigen 1 (EBNA-1). GeneReviews: Not available | |
| A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32. GeneReviews: Not available | |
| A meta-analysis of genome-wide association studies for serum total IgE in diverse study populations. GeneReviews: Not available | |
| Celiac disease, susceptibility to, 1 | not available |
| Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic. GeneReviews: Not available | |
| Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype. GeneReviews: Not available | |
| Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. GeneReviews: Not available | |
| Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects. GeneReviews: Not available | |
| Genome-wide association study identifies susceptibility loci for IgA nephropathy. GeneReviews: Not available | |
| Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population. GeneReviews: Not available | |
| Genome-wide association study of follicular lymphoma identifies a risk locus at 6p21.32. GeneReviews: Not available | |
| Genome-wide association study of HPV seropositivity. GeneReviews: Not available | |
| Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. GeneReviews: Not available | |
| Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. GeneReviews: Not available | |
| Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis. GeneReviews: Not available | |
| GWAS of follicular lymphoma reveals allelic heterogeneity at 6p21.32 and suggests shared genetic susceptibility with diffuse large B-cell lymphoma. GeneReviews: Not available | |
| HLA-DQB1*03 confers susceptibility to chronic hepatitis C in Japanese: a genome-wide association study. GeneReviews: Not available | |
| Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. GeneReviews: Not available | |
| Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. GeneReviews: Not available | |
| Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy. GeneReviews: Not available | |
| Inherited Creutzfeldt-Jakob disease | See labs |
| Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. GeneReviews: Not available | |
| Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization. GeneReviews: Not available | |
| Multiple common variants for celiac disease influencing immune gene expression. GeneReviews: Not available | |
| Multiple sclerosis, susceptibility to | See labs |
| New sequence variants in HLA class II/III region associated with susceptibility to knee osteoarthritis identified by genome-wide association study. GeneReviews: Not available | |
| Novel associations for hypothyroidism include known autoimmune risk loci. GeneReviews: Not available | |
| Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans. GeneReviews: Not available | |
| Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles. GeneReviews: Not available | |
| Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants. GeneReviews: Not available | |
| Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies. GeneReviews: Not available | |
| Susceptibility to amoxicillin-clavulanate-induced liver injury is influenced by multiple HLA class I and II alleles. GeneReviews: Not available | |
| Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. GeneReviews: Not available | |
| Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis. GeneReviews: Not available | |
| Variation at HLA-DRB1 is associated with resistance to enteric fever. GeneReviews: Not available |
Genomic context
- Location:
- 6p21.32
- Sequence:
- Chromosome: 6; NC_000006.12 (32659467..32666657, complement)
- Total number of exons:
- 6
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for HLA-DQB1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- HLA-DQB1 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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