Gene: HLA-B

Alternate names for this Gene: AS|B-4901|HLAB

Gene 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.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.33

Description of this Gene: major histocompatibility complex, class I, B

Type of Gene: protein-coding

Gene: HLA-C

Alternate names for this Gene: D6S204|HLA-JY3|HLAC|HLC-C|MHC|PSORS1

Gene Summary: HLA-C 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 endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, 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. Over one hundred HLA-C alleles have been described

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.33

Description of this Gene: major histocompatibility complex, class I, C

Type of Gene: protein-coding

rs13207315 in HLA-B;HLA-C gene and ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO PMID 20041166 2009 Common genetic variation and the control of HIV-1 in humans.

PMID 21051598 2010 The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.

rs13207315 in HLA-B;HLA-C gene and AIDS, PROGRESSION TO PMID 20041166 2009 Common genetic variation and the control of HIV-1 in humans.

PMID 21051598 2010 The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.

rs9264638 in HLA-B;HLA-C gene and Beta-2-microglobulin measurement PMID 23417110 2013 Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.

rs2074488 in HLA-B;HLA-C gene and Chronic Obstructive Airway Disease PMID 23144326 2012 Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.

rs2249742 in HLA-B;HLA-C gene and Diabetes Mellitus, Insulin-Dependent PMID 17632545 2007 A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.

rs9264639 in HLA-B;HLA-C gene and Glomerular Filtration Rate PMID 31015462 2019 Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.

rs5010528 in HLA-B;HLA-C gene and HIV Infections PMID 28062682 2017 Genome-wide association study of nevirapine hypersensitivity in a sub-Saharan African HIV-infected population.

rs13207315 in HLA-B;HLA-C gene and HIV-1, RESISTANCE TO PMID 20041166 2009 Common genetic variation and the control of HIV-1 in humans.

PMID 21051598 2010 The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.

rs13207315 in HLA-B;HLA-C gene and HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO PMID 20041166 2009 Common genetic variation and the control of HIV-1 in humans.

PMID 21051598 2010 The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.

rs7759127 in HLA-B;HLA-C gene and Leprosy PMID 20018961 2009 Genomewide association study of leprosy.

rs9357121 in HLA-B;HLA-C gene and Low density lipoprotein cholesterol measurement PMID 26582766 2016 Genetic Susceptibility to Lipid Levels and Lipid Change Over Time and Risk of Incident Hyperlipidemia in Chinese Populations.

rs2249742 in HLA-B;HLA-C gene and Lymphocyte Count measurement PMID 28158719 2017 Genome-wide association of white blood cell counts in Hispanic/Latino Americans: the Hispanic Community Health Study/Study of Latinos.

rs114208039 in HLA-B;HLA-C gene and Monocyte count procedure PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs114208039 in HLA-B;HLA-C gene and Monocyte count result PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs34794906 in HLA-B;HLA-C gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs2074488 in HLA-B;HLA-C gene and Rheumatoid Arthritis PMID 21156761 2011 A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative 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.

rs9357121 in HLA-B;HLA-C gene and Serum total cholesterol measurement PMID 26582766 2016 Genetic Susceptibility to Lipid Levels and Lipid Change Over Time and Risk of Incident Hyperlipidemia in Chinese Populations.

rs5010528 in HLA-B;HLA-C gene and Stevens-Johnson Syndrome PMID 28062682 2017 Genome-wide association study of nevirapine hypersensitivity in a sub-Saharan African HIV-infected population.

rs2074488 in HLA-B;HLA-C gene and Surfactant protein D measurement PMID 23144326 2012 Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.

rs5010528 in HLA-B;HLA-C gene and Toxic Epidermal Necrolysis PMID 28062682 2017 The most promising signal was seen in SJS/TEN, where rs5010528 ( HLA-C locus) approached genome-wide significance ( P  <   8.5 × 10 -8 ) and was below HLA -wide significance ( P  <   2.5 × 10 -4 ) in the meta-analysis of discovery and replication cohorts [OR 4.84 (95% CI 2.71-8.61)]. rs5010528 is a strong proxy for HLA-C*04:01 carriage: in silico docking showed that two residues (33 and 123) in the B pocket were the most likely nevirapine interactors.

rs2249742 in HLA-B;HLA-C gene and White Blood Cell Count procedure PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.