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: LOC112267902

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

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Description of this Gene:

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rs6457374 in HLA-B;LOC112267902 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.

rs6457374 in HLA-B;LOC112267902 gene and AIDS, PROGRESSION TO PMID 21051598 2010 The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.

PMID 20041166 2009 Common genetic variation and the control of HIV-1 in humans.

rs6457374 in HLA-B;LOC112267902 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs540653847 in HLA-B;LOC112267902 gene and Blood basophil count (lab test) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs6457374 in HLA-B;LOC112267902 gene and Body Height PMID 25282103 2014 Defining the role of common variation in the genomic and biological architecture of adult human height.

rs115283957 in HLA-B;LOC112267902 gene and Child Development Disorders, Pervasive PMID 28540026 2017 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.

rs396038 in HLA-B;LOC112267902 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs116392568 in HLA-B;LOC112267902 gene and Crohn Disease PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

rs6457374 in HLA-B;LOC112267902 gene and Diabetes Mellitus, Insulin-Dependent PMID 17632545 2007 A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.

rs540653847 in HLA-B;LOC112267902 gene and Eosinophil count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs6457374 in HLA-B;LOC112267902 gene and HIV-1, RESISTANCE TO PMID 21051598 2010 The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.

PMID 20041166 2009 Common genetic variation and the control of HIV-1 in humans.

rs6457374 in HLA-B;LOC112267902 gene and HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO PMID 21051598 2010 The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.

PMID 20041166 2009 Common genetic variation and the control of HIV-1 in humans.

rs7750963 in HLA-B;LOC112267902 gene and Hepatitis B PMID 24162738 2013 New loci associated with chronic hepatitis B virus infection in Han Chinese.

rs116392568 in HLA-B;LOC112267902 gene and Inflammatory Bowel Diseases PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

rs6457374 in HLA-B;LOC112267902 gene and Lupus Erythematosus, Systemic PMID 24871463 2014 GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.

rs115681968 in HLA-B;LOC112267902 gene and Neutrophil count (procedure) PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs1634761 in HLA-B;LOC112267902 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.

rs6457375 in HLA-B;LOC112267902 gene and Sarcoidosis PMID 22952805 2012 Genome-wide association study of African and European Americans implicates multiple shared and ethnic specific loci in sarcoidosis susceptibility.

rs115283957 in HLA-B;LOC112267902 gene and Schizophrenia PMID 28540026 2017 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.