HLA-DMB - major histocompatibility complex, class II, DM beta Gene

Homo sapiens

Also known as RING7; D6S221E

Gene ID: 3109 | Gene type: protein coding

About HLA-DMB

Cytogenetic location: 6p21.32 Genomic coordinates (GRCh38): 6:32,934,636-32,941,028 (from NCBI)

This gene has 6 transcripts (splice variants), 1 gene allele, 149 orthologues and 13 paralogues. Broad expression in lymph node (RPKM 104.0), spleen (RPKM 76.5) and 24 other tissues.

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. [provided by RefSeq, Jul 2008]

HLA-DMB Products(1)

mRNA	Protein	Name
NM_002118.5	NP_002109.2	HLA class II histocompatibility antigen, DM beta chain precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables MHC class II protein complex binding	IDA IDA: Inferred from direct assay	9075930	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21131964	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in MHC class II protein complex assembly	IMP IMP: Inferred from mutant phenotype	8139689	GOA
involved in antigen processing and presentation of exogenous peptide antigen via MHC class II	IMP IMP: Inferred from mutant phenotype	8139689	GOA
involved in peptide antigen assembly with MHC class II protein complex	IDA IDA: Inferred from direct assay	7606781	GOA
involved in positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	IMP IMP: Inferred from mutant phenotype	8139689	GOA
involved in positive regulation of T cell proliferation	IMP IMP: Inferred from mutant phenotype	8139689	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of MHC class II protein complex	IDA IDA: Inferred from direct assay	7606781	GOA
located in late endosome membrane	IDA IDA: Inferred from direct assay	9075930	GOA
located in lysosomal membrane	IDA IDA: Inferred from direct assay	9075930	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HLA-DMB Protein Structure

C1-set

0
100
141 a.a.

Protein Preferred Names

Protein Names

HLA class II histocompatibility antigen, DM beta chain

MHC class II HLA-DMB

HLA-DMB Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	HLA-DMB	P28068	AP3M1	Homo sapiens	Q9Y2T2	Anti Tag CoIP	33961781
Intra	HLA-DMB	P28068	AP3M1	Homo sapiens	Q9Y2T2	Anti Tag CoIP	28514442
Intra	HLA-DMB	P28068	HLA-DMA	Homo sapiens	P28067	X-Ray Diffraction	9768757

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Psychologic Dyspareunia

Dyspareunia, Psychogenic

Non-Organic Dyspareunia

Type 1 Diabetes Mellitus

Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus Type 1
IDDM	Type 1 Diabetes
Insulin-Dependent Diabetes Mellitus	T1D
Juvenile-Onset Diabetes	Jod
Diabetes Mellitus, Type 1	Diabetes Mellitus, Insulin-Dependent-1
Type I Diabetes Mellitus	Autoimmune Diabetes
Juvenile Diabetes	Juvenile-Onset Diabetes Mellitus
Diabetes, Insulin Dependent	Insulin-Dependent Diabetes Mellitus-1
Diabetes Mellitus Insulin-Dependent	Diabetes Autoimmune
Diabetes Mellitus, Insulin-Dependent, Susceptibility To	Diabetes Mellitus, Type 1, Susceptibility To
Diabetes Type 1	Type I Diabetes
Diabetes, Autoimmune	T1dm - [Type 1 Diabetes Mellitus]
Iddm - [Insulin Dependent Diabetes Mellitus]	Type 1 Iddm
Juvenile Diabetes Mellitus Without Compications	Idiopathic Insulin-Dependent Diabetes Mellitus Without Complications
Juvenile-Onset Diabetes Mellitus Without Compications	Ketosis-Prone Diabetes Mellitus Without Compications
Juvenile-Onset-Type Diabetes Mellitus Without Compications

Rheumatoid Arthritis

RA	Arthritis, Rheumatoid
Rheumatoid Arthritis, Susceptibility To	Arthritis Or Polyarthritis, Rheumatic
Atrophic Arthritis	Rheumatism Arthritis
Rheumatoid Polyarthritis

Systemic Lupus Erythematosus

Lupus Nephritis	SLE
Disseminated Lupus Erythematosus	Systemic Lupus Erythematosus, Susceptibility To
Lupus Erythematosus, Systemic	Lupus Nephritis, Susceptibility To
Libman-Sacks Disease	Systemic Lupus Erythematosus Susceptibility To
Sle - Lupus Erythematosus, Systemic	Le Syndrome
Lupus	Lupus Erythematosus Systemic
Lupus Erythematosus, Systemic, Susceptibility To	Lupus Vulgaris
Lupus Erythematosus, Discoid	Lupus Erythematosus
Systemic Lupus Erythematosus Nos	Sle - [Systemic Lupus Erythematosus]

Severe Combined Immunodeficiency

Scid	Severe Combined Immunodeficiency Disease
Combined T And B Cell Inborn Immunodeficiency	Immunodeficiency, Severe Combined
Scid - [Severe Combined Immunodeficiencies]

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06200	HLA-DMB Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	HLA-DMB	RGD	RGD:735096

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