Gene: LOC112267902

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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: LINC02571

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rs2247056 in LOC112267902;HLA-B;LINC02571 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.

rs2247056 in LOC112267902;HLA-B;LINC02571 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.

rs2247056 in LOC112267902;HLA-B;LINC02571 gene and Body Height PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

rs9380238 in LOC112267902;HLA-B;LINC02571 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs114985235 in LOC112267902;HLA-B;LINC02571 gene and Crohn Disease PMID 26891255 2016 Among them, rs114985235 in the intergenic region between HLA-B and HLA-C showed the strongest association, with an increased risk of CD (P = 8.71 × 10; odds ratio, 2.25).

rs2247056 in LOC112267902;HLA-B;LINC02571 gene and Diabetes Mellitus, Insulin-Dependent PMID 17632545 2007 A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.

rs2247056 in LOC112267902;HLA-B;LINC02571 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.

rs2247056 in LOC112267902;HLA-B;LINC02571 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.

rs2247056 in LOC112267902;HLA-B;LINC02571 gene and Height PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

rs2247056 in LOC112267902;HLA-B;LINC02571 gene and Low density lipoprotein cholesterol measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

rs2524089 in LOC112267902;HLA-B;LINC02571 gene and Lymphocyte Count measurement PMID 22286170 2012 The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes.

rs2524089 in LOC112267902;HLA-B;LINC02571 gene and Multiple Sclerosis PMID 17660530 2007 Risk alleles for multiple sclerosis identified by a genomewide study.

rs4406273 in LOC112267902;HLA-B;LINC02571 gene and Psoriasis PMID 23143594 2012 Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.

rs4406273 in LOC112267902;HLA-B;LINC02571 gene and Psoriasis vulgaris PMID 26626624 2015 Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture.

rs2524089 in LOC112267902;HLA-B;LINC02571 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.

rs2247056 in LOC112267902;HLA-B;LINC02571 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.

rs2247056 in LOC112267902;HLA-B;LINC02571 gene and Serum total cholesterol measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

rs2247056 in LOC112267902;HLA-B;LINC02571 gene and Triglycerides measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.