HLA-B major histocompatibility complex, class I, B
Gene ID: 3106, updated on 17-Jun-2024Gene type: protein coding
Also known as: AS; HLAB; B-4901
- See all available tests in GTR for this gene
- Go to complete Gene record for HLA-B
- Go to Variation Viewer for HLA-B variants
Summary
HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies two new risk loci for Graves' disease. GeneReviews: Not available | |
| A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci. 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 | |
| Abacavir hypersensitivity MedGen: C1840547GeneReviews: Not available | See labs |
| Allopurinol response MedGen: CN160494GeneReviews: Not available | See labs |
| Association study of common genetic variants and HIV-1 acquisition in 6,300 infected cases and 7,200 controls. GeneReviews: Not available | |
| Carbamazepine hypersensitivity MedGen: C3277286GeneReviews: Not available | See labs |
| Carbamazepine response MedGen: CN077964GeneReviews: Not available | See labs |
| Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles. GeneReviews: Not available | |
| Common genetic variation and the control of HIV-1 in humans. GeneReviews: Not available | |
| Genetic variation in the HLA region is associated with susceptibility to herpes zoster. GeneReviews: Not available | |
| Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. GeneReviews: Not available | |
| Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC. GeneReviews: Not available | |
| Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin. GeneReviews: Not available | |
| Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma. GeneReviews: Not available | |
| Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension. GeneReviews: Not available | |
| Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. GeneReviews: Not available | |
| Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. GeneReviews: Not available | |
| HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin. GeneReviews: Not available | |
| Host determinants of HIV-1 control in African Americans. GeneReviews: Not available | |
| Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. GeneReviews: Not available | |
| Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci. GeneReviews: Not available | |
| Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization. GeneReviews: Not available | |
| Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes. GeneReviews: Not available | |
| Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size. GeneReviews: Not available | |
| Multiple loci are associated with white blood cell phenotypes. GeneReviews: Not available | |
| New gene functions in megakaryopoiesis and platelet formation. GeneReviews: Not available | |
| Novel associations for hypothyroidism include known autoimmune risk loci. GeneReviews: Not available | |
| Quantitative trait loci for CD4:CD8 lymphocyte ratio are associated with risk of type 1 diabetes and HIV-1 immune control. GeneReviews: Not available | |
| Spondyloarthropathy, susceptibility to, 1 | See labs |
| Susceptibility to severe cutaneous adverse reaction | See labs |
| The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. GeneReviews: Not available |
Genomic context
- Location:
- 6p21.33
- Sequence:
- Chromosome: 6; NC_000006.12 (31353875..31357179, complement)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for HLA-B variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- HLA-B 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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