HLA-DMB Gene Summary [Human]
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]
Details
| Type | Retained Intron |
| Official Symbol | HLA-DMB |
| Official Name | major histocompatibility complex, class II, DM beta [Source:HGNC Symbol;Acc:HGNC:4935] |
| Ensembl ID | ENSG00000226264 |
| Bio databases IDs | |
| Aliases | major histocompatibility complex, class II, DM beta |
| Synonyms | D6S221E, DMb, H2-DMb2, H-2Mb2, histocompatibility 2, class II, locus Mb2, LOC108348139, major histocompatibility complex, class II, DM beta, major histocompatibility complex, class II, DM β, RING7, RT1 class II, locus DMb, RT1-DMb, RT1.DMb, RT1.Mb |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human HLA-DMB often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Immunoglobulin C1-set domain
- binding protein
- YXX-Phi motif
- immunoglobulin domain
- Immunoglobulin like
- Immunoglobulin I-set domain
- protein binding
- transmembrane receptor
- Class II histocompatibility antigen, beta domain
Pathways
Biological processes and signaling networks where the HLA-DMB gene in human plays a role, providing insight into its function and relevance in health or disease.
- Allograft Rejection Signaling
- Altered T Cell and B Cell Signaling in Rheumatoid Arthritis
- Antigen Presentation Pathway
- Autoimmune Thyroid Disease Signaling
- Calcium-induced T Lymphocyte Apoptosis
- CTLA4 Signaling in Cytotoxic T Lymphocytes
- Dendritic Cell Maturation
- Glucocorticoid Receptor Signaling
- Graft-versus-Host Disease Signaling
- iCOS-iCOSL Signaling in T Helper Cells
- IL-10 Signaling
- IL-4 Signaling
- Neuroinflammation Signaling Pathway
- Nur77 Signaling in T Lymphocytes
- OX40 Signaling Pathway
- PKCθ Signaling in T Lymphocytes
- T Cell Receptor Signaling
- Th1 and Th2 Activation Pathway
- Th1 Pathway
- Th2 Pathway
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- schizophrenia
- laser induced choroidal neovascularization
- insulin-dependent diabetes mellitus
- septic shock
- dextran sodium sulfate-induced colitis
- COVID-19
- hypothyroidism
- androgenic alopecia
- lung squamous cell carcinoma
- squamous cell lung cancer
role in cell
- proliferation
- activation
- loss in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- intracellular membrane-bounded organelle
- cellular membrane
- lysosome
- MHC class II compartments
- lysosome membrane
- endosomal membrane
- late endosomes
- endocytotic vesicle
- multivesicular bodies
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HLA-DMB gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of T cell activation
- peptide antigen assembly with MHC class II protein complex
- adaptive immune response
- positive regulation of T cell proliferation
- positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell
- antigen processing and presentation of exogenous peptide antigen via MHC class II
- positive regulation of immune response
- MHC class II protein complex assembly
Cellular Component
Where in the cell the gene product is active
- MHC class II protein complex
- late endosome membrane
- intracellular membrane-bounded organelle
- lysosomal membrane
Molecular Function
What the gene product does at the molecular level
- peptide antigen binding
- protein binding
- MHC class II protein complex binding