Gene: LINC02571

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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: LOC112267902

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rs16899207 in LINC02571;HLA-B;LOC112267902 gene and ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO PMID 21051598 2010 The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.

rs16899207 in LINC02571;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.

rs2524139 in LINC02571;HLA-B;LOC112267902 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs114274203 in LINC02571;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.

rs9264842 in LINC02571;HLA-B;LOC112267902 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs16899207 in LINC02571;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.

rs16899207 in LINC02571;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.

rs2524132 in LINC02571;HLA-B;LOC112267902 gene and Leprosy PMID 20018961 2009 Genomewide association study of leprosy.

rs2524095 in LINC02571;HLA-B;LOC112267902 gene and Multiple Sclerosis PMID 17660530 2007 Risk alleles for multiple sclerosis identified by a genomewide study.

rs2524095 in LINC02571;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.

rs2524139 in LINC02571;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.

rs114274203 in LINC02571;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.