Gene: LOC112267902

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

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

rs10484554 in LOC112267902;HLA-B gene and ACQUIRED IMMUNODEFICIENCY SYNDROME, 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.

rs10484554 in LOC112267902;HLA-B 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.

rs10484554 in LOC112267902;HLA-B gene and Acquired Immunodeficiency Syndrome PMID 19115949 2009 Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02).

rs9368678 in LOC112267902;HLA-B gene and Behcet Syndrome PMID 23041938 2013 Genome-wide association study identifies GIMAP as a novel susceptibility locus for Behcet's disease.

rs3132479 in LOC112267902;HLA-B gene and Body Weight PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

rs393225 in LOC112267902;HLA-B gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs9264942 in LOC112267902;HLA-B gene and Crohn Disease PMID 23128233 2012 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.

PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

rs9368677 in LOC112267902;HLA-B gene and Dermatitis, Atopic PMID 23042114 2012 Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.

rs3094691 in LOC112267902;HLA-B gene and Diabetes Mellitus, Insulin-Dependent PMID 17632545 2007 A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.

rs10484554 in LOC112267902;HLA-B 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.

rs10484554 in LOC112267902;HLA-B 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.

rs9264942 in LOC112267902;HLA-B gene and IGA Glomerulonephritis PMID 22197929 2011 A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy.

rs9264868 in LOC112267902;HLA-B gene and Leprosy PMID 20018961 2009 Genomewide association study of leprosy.

rs115845232 in LOC112267902;HLA-B gene and Low density lipoprotein cholesterol measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

rs10484554 in LOC112267902;HLA-B gene and Psoriasis PMID 20953190 2010 A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.

PMID 18369459 2008 A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci.

PMID 26626624 2015 Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture.

rs10484554 in LOC112267902;HLA-B gene and Rheumatoid Arthritis PMID 19503088 2009 REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.

PMID 17804836 2007 TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.

rs9264873 in LOC112267902;HLA-B 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.

rs115845232 in LOC112267902;HLA-B gene and Serum total cholesterol measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

rs115845232 in LOC112267902;HLA-B gene and Triglycerides measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

rs10484554 in LOC112267902;HLA-B gene and Vitiligo PMID 20526339 2010 Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC.