Gene: HLA-DMB

Alternate names for this Gene: D6S221E|RING7

Gene Summary: HLA-DMB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DMA) and a beta (DMB) chain, both anchored in the membrane. It is located in intracellular vesicles. DM plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP (class II-associated invariant chain peptide) molecule from the peptide binding site. 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, DM beta

Type of Gene: protein-coding

rs1480380 in HLA-DMB gene and Attention deficit hyperactivity disorder PMID 23453885 2013 Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.

rs1480380 in HLA-DMB gene and Bipolar Disorder PMID 23453885 2013 Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.

rs115497191 in HLA-DMB 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.

PMID 23453885 2013 Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.

rs1480380 in HLA-DMB gene and Diabetes Mellitus, Insulin-Dependent PMID 17632545 2007 A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.

rs1480380 in HLA-DMB gene and Lupus Erythematosus, Systemic PMID 24871463 2014 GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.

rs1480380 in HLA-DMB gene and Major Depressive Disorder PMID 23453885 2013 Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.

rs1480380 in HLA-DMB gene and Membranous glomerulonephritis PMID 21323541 2011 Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.

rs151719 in HLA-DMB gene and Multiple Sclerosis PMID 17660530 2007 Risk alleles for multiple sclerosis identified by a genomewide study.

rs1042337 in HLA-DMB 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.

rs1480380 in HLA-DMB gene and Sarcoidosis PMID 26651848 2016 High-Density Genetic Mapping Identifies New Susceptibility Variants in Sarcoidosis Phenotypes and Shows Genomic-driven Phenotypic Differences.

rs115497191 in HLA-DMB 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.

PMID 23453885 2013 Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.

PMID 26198764 2015 Genome-wide association study of schizophrenia in Ashkenazi Jews.

rs114951367 in HLA-DMB gene and Squamous cell carcinoma of lung PMID 28604730 2017 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.