HLA-DRB1 major histocompatibility complex, class II, DR beta 1
Gene ID: 3123, updated on 4-Jan-2025Gene type: protein coding
Also known as: SS1; DRB1; HLA-DRB; HLA-DR1B
- See all available tests in GTR for this gene
- Go to complete Gene record for HLA-DRB1
- Go to Variation Viewer for HLA-DRB1 variants
Summary
HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), 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. The beta chain is approximately 26-28 kDa. It is encoded by 6 exons. Exon one 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 DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and some alleles have increased frequencies associated with certain diseases or conditions. For example, DRB1*1302 has been related to acute and chronic hepatitis B virus persistence. There are multiple pseudogenes of this gene. [provided by RefSeq, Jul 2020]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| 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 identifies KIAA0350 as a type 1 diabetes gene. GeneReviews: Not available | |
| A genome-wide association study identifies polymorphisms in the HLA-DR region associated with non-response to hepatitis B vaccination in Chinese Han populations. GeneReviews: Not available | |
| A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjögren's syndrome at 7q11.23. GeneReviews: Not available | |
| A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy. GeneReviews: Not available | |
| A genome-wide association study of host genetic determinants of the antibody response to Anthrax Vaccine Adsorbed. GeneReviews: Not available | |
| A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides. 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 genome-wide study identifies HLA alleles associated with lumiracoxib-related liver injury. GeneReviews: Not available | |
| A regulatory variant in CCR6 is associated with rheumatoid arthritis susceptibility. GeneReviews: Not available | |
| Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency. GeneReviews: Not available | |
| Association of the TRAF1-C5 locus on chromosome 9 with juvenile idiopathic arthritis. GeneReviews: Not available | |
| Common variants at CD40 and other loci confer risk of rheumatoid arthritis. GeneReviews: Not available | |
| Common variants in the HLA-DRB1-HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis. GeneReviews: Not available | |
| Genetics of rheumatoid arthritis contributes to biology and drug discovery. GeneReviews: Not available | |
| Genome-wide association analysis of Vogt-Koyanagi-Harada syndrome identifies two new susceptibility loci at 1p31.2 and 10q21.3. 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 new multiple sclerosis susceptibility loci on chromosomes 12 and 20. GeneReviews: Not available | |
| Genome-wide association study identifies susceptibility loci for IgA nephropathy. GeneReviews: Not available | |
| Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus. GeneReviews: Not available | |
| Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. GeneReviews: Not available | |
| Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. GeneReviews: Not available | |
| Genome-wide association study of clinical dimensions of schizophrenia: polygenic effect on disorganized symptoms. GeneReviews: Not available | |
| Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations. GeneReviews: Not available | |
| Genome-wide association study of hepatitis C virus- and cryoglobulin-related vasculitis. GeneReviews: Not available | |
| Genome-wide association study of rheumatoid arthritis in Koreans: population-specific loci as well as overlap with European susceptibility loci. GeneReviews: Not available | |
| Genome-wide association study of susceptibility loci for cervical cancer. GeneReviews: Not available | |
| Genome-wide association study of ulcerative colitis in Koreans suggests extensive overlapping of genetic susceptibility with Caucasians. GeneReviews: Not available | |
| Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. GeneReviews: Not available | |
| GWAS identifies novel susceptibility loci on 6p21.32 and 21q21.3 for hepatocellular carcinoma in chronic hepatitis B virus carriers. GeneReviews: Not available | |
| HLA-Cw*1202-B*5201-DRB1*1502 haplotype increases risk for ulcerative colitis but reduces risk for Crohn's disease. 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 a novel risk locus for multiple sclerosis at 13q31.3 by a pooled genome-wide scan of 500,000 single nucleotide polymorphisms. GeneReviews: Not available | |
| Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy. GeneReviews: Not available | |
| Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians. GeneReviews: Not available | |
| Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. GeneReviews: Not available | |
| Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. GeneReviews: Not available | |
| Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci. GeneReviews: Not available | |
| Multiple sclerosis, susceptibility to | See labs |
| Novel associations for hypothyroidism include known autoimmune risk loci. GeneReviews: Not available | |
| Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles. GeneReviews: Not available | |
| Sarcoidosis, susceptibility to, 1 | not available |
| Single-nucleotide polymorphisms in HLA- and non-HLA genes associated with the development of antibodies to interferon-β therapy in multiple sclerosis patients. GeneReviews: Not available | |
| Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies. GeneReviews: Not available | |
| TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study. 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 (32578775..32589848, 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-DRB1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- HLA-DRB1 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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