Gene: HLA-DOB

Alternate names for this Gene: DOB|HLA_DOB

Gene Summary: HLA-DOB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DOA) and a beta chain (DOB), both anchored in the membrane. It is located in intracellular vesicles. DO suppresses peptide loading of MHC class II molecules by inhibiting HLA-DM. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.32

Description of this Gene: major histocompatibility complex, class II, DO beta

Type of Gene: protein-coding

rs1894406 in HLA-DOB gene and ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO PMID 20041166 2009 Common genetic variation and the control of HIV-1 in humans.

rs1894406 in HLA-DOB gene and AIDS, PROGRESSION TO PMID 20041166 2009 Common genetic variation and the control of HIV-1 in humans.

rs7383287 in HLA-DOB gene and Carcinoma of lung PMID 28604730 2017 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.

rs11244 in HLA-DOB gene and Diabetes Mellitus, Insulin-Dependent PMID 17632545 2007 A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.

rs2071479 in HLA-DOB gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 30054458 2018 Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes.

rs1894406 in HLA-DOB gene and HIV-1, RESISTANCE TO PMID 20041166 2009 Common genetic variation and the control of HIV-1 in humans.

rs1894406 in HLA-DOB gene and HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO PMID 20041166 2009 Common genetic variation and the control of HIV-1 in humans.

rs3763354 in HLA-DOB gene and Hepatitis B PMID 23760081 2013 A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.

rs9784858 in HLA-DOB gene and Narcolepsy PMID 19629137 2009 Genome-wide association database developed in the Japanese Integrated Database Project.

rs1383258 in HLA-DOB 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.

PMID 26272072 2016 An Immunochip-based interaction study of contrasting interaction effects with smoking in ACPA-positive versus ACPA-negative rheumatoid arthritis.

rs11244 in HLA-DOB gene and Sarcoidosis PMID 26651848 2016 High-Density Genetic Mapping Identifies New Susceptibility Variants in Sarcoidosis Phenotypes and Shows Genomic-driven Phenotypic Differences.

rs7383287 in HLA-DOB gene and Schizophrenia PMID 26198764 2015 Genome-wide association study of schizophrenia in Ashkenazi Jews.

rs1383258 in HLA-DOB gene and Takayasu Arteritis PMID 25604533 2015 Identification of Susceptibility Loci in IL6, RPS9/LILRB3, and an Intergenic Locus on Chromosome 21q22 in Takayasu Arteritis in a Genome-Wide Association Study.