CD83 Gene - CD83 Molecule
A key immune regulatory gene encoding a transmembrane glycoprotein involved in antigen presentation and T cell activation.
Gene Information Card
| Symbol | CD83 |
|---|---|
| Full Name | CD83 molecule |
| Gene Type | protein-coding |
| Chromosomal Location | 6p23 |
| NCBI Gene ID | 9308 ncbi.nlm.nih.gov/gene/9308 |
| Ensembl ID | ENSG00000166135 |
| UniProt ID | Q01151 |
| OMIM ID | 604534 |
| HGNC ID | 1703 |
| Aliases | BL11, HB15, CD83 antigen |
Description
CD83 is a single-pass type I membrane glycoprotein belonging to the immunoglobulin superfamily. It is predominantly expressed on mature dendritic cells, activated B cells, and T cells. CD83 plays a critical role in antigen presentation, T cell co-stimulation, and immune homeostasis. Alternative splicing generates both membrane-bound and soluble isoforms, with soluble CD83 (sCD83) exerting immunosuppressive functions. The gene is located on chromosome 6p23 and is regulated by NF-κB and other transcription factors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Rheumatoid Arthritis | sCD83 levels are elevated and correlate with disease activity; may inhibit T cell responses | PMID: 21539716 |
| Systemic Lupus Erythematosus | Increased sCD83 associated with disease severity and immune dysregulation | PMID: 23300274 |
| Multiple Sclerosis | CD83 expression on dendritic cells is altered, affecting T cell priming | PMID: 19064728 |
| Graft-versus-Host Disease | sCD83 treatment reduces GVHD severity in murine models | PMID: 19644020 |
| Hodgkin Lymphoma | CD83 is overexpressed on Reed-Sternberg cells and may contribute to immune evasion | PMID: 12091323 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 35.2 | High |
| Spleen | 28.1 | High |
| Tonsil | 42.5 | High |
| Bone marrow | 12.3 | Medium |
| Lung | 5.6 | Low |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Dendritic cells (immature) | 0.5 | Low; upregulated upon maturation |
| Dendritic cells (mature) | 45.8 | High |
| B cells (activated) | 22.3 | High |
| T cells (activated) | 18.7 | Medium |
| Monocytes | 3.1 | Low |
| HeLa | 0.8 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Unknown; rare variant |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Likely loss of function |
| c.314_315insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and start-loss mutations are predicted to result in loss of CD83 protein expression or function.
Gain of Function (GOF)
No gain-of-function mutations have been reported in CD83.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for CD83.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Immune System (Reactome: R-HSA-168256)
• T cell receptor signaling pathway (KEGG: hsa04660)
• NF-kappa B signaling pathway (KEGG: hsa04064)
Protein Summary
The CD83 protein is a 205-amino-acid transmembrane glycoprotein with a single extracellular immunoglobulin-like domain. It is expressed as a monomer on the cell surface and can be cleaved to generate a soluble form (sCD83). Membrane-bound CD83 acts as a co-stimulatory molecule for T cell activation, while sCD83 has immunosuppressive properties, inhibiting dendritic cell maturation and T cell proliferation. CD83 is essential for the development and function of CD4+ T cells and is implicated in immune tolerance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CD83 Knockout HEK293 Cell Line | EDJ-KQ6539 | Human | 9308 | Details Get a Quote |
| CD83 Knockout A-549 Cell Line | EDJ-KQ30711 | Human | 9308 | Details Get a Quote |
| CD83 Knockout HCT 116 Cell Line | EDJ-KQ30712 | Human | 9308 | Details Get a Quote |
| CD83 Knockout HeLa Cell Line | EDJ-KQ30713 | Human | 9308 | Details Get a Quote |
