CD83

Chr 6

CD83 molecule

Also known as: BL11, HB15

NCBI Gene: 9308ENSG00000112149UniProt: Q01151

The protein encoded by this gene is a single-pass type I membrane protein and member of the immunoglobulin superfamily of receptors. The encoded protein may be involved in the regulation of antigen presentation. A soluble form of this protein can bind to dendritic cells and inhibit their maturation. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

59
ClinVar variants
24
Pathogenic / LP
0.01
pLI score
0
Active trials
Clinical Summary— CD83
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.01) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
24 Pathogenic / Likely Pathogenic· 33 VUS of 59 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.07LOEUF
pLI 0.005
Z-score 1.43
OE 0.51 (0.27–1.07)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.32Z-score
OE missense 0.92 (0.78–1.08)
101 obs / 110.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.51 (0.27–1.07)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.92 (0.78–1.08)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.17
0≤1.21.6
LoF obs/exp: 5 / 9.8Missense obs/exp: 101 / 110.3Syn Z: -0.91

ClinVar Variant Classifications

59 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic22
Likely Pathogenic2
VUS33
Likely Benign1
Benign1
22
Pathogenic
2
Likely Pathogenic
33
VUS
1
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
22
0
22
Likely Pathogenic
0
0
2
0
2
VUS
0
30
3
0
33
Likely Benign
0
1
0
0
1
Benign
0
1
0
0
1
Total03227059

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CD83 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
CD83 ANTIGEN; CD83
MIM #604534 · *
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Single cell transcriptomes and multiscale networks from persons with and without Alzheimer's disease.
Wang Q et al.·Nat Commun
2024
CD40L stimulates tumor-infiltrating B-cells and improves ex vivo TIL expansion.
Rossetti RAM et al.·J Immunother Cancer
2025
CD83: Activation Marker for Antigen Presenting Cells and Its Therapeutic Potential.
Li Z et al.·Front Immunol
2019Review
Contribution of a European-Prevalent Variant near CD83 and an East Asian-Prevalent Variant near IL17RB to Herpes Zoster Risk in Tofacitinib Treatment: Results of Genome-Wide Association Study Meta-Analyses.
Bing N et al.·Arthritis Rheumatol
2021Meta-analysis
Tilting the Balance: Therapeutic Prospects of CD83 as a Checkpoint Molecule Controlling Resolution of Inflammation.
Peckert-Maier K et al.·Int J Mol Sci
2022Review
Identifying the potential therapeutic targets of tertiary lymphoid structure in IgA nephropathy based on bioinformatics.
Zou M et al.·Autoimmunity
2025
Human Effectors of Acute and Chronic GVHD Overexpress CD83 and Predict Mortality.
Holtan SG et al.·Clin Cancer Res
2023
SMARCC1 promotes M2 macrophage polarization and reduces ferroptosis in lung cancer by activating FLOT1 transcription.
Tao Y et al.·J Mol Med (Berl)
2025
Avian dendritic cells: Phenotype and ontogeny in lymphoid organs.
Nagy N et al.·Dev Comp Immunol
2016Review
Extracellular microvesicles from patients with Rheumatoid arthritis promote dendritic cell activation in vitro.
Buttari B et al.·Front Immunol
2025Cohort
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
UBL3 Participates in the Early Stages of CD83-Dependent CD4+ T Cell Selection.
Morgan H et al.·Eur J Immunol
2026🔓 Open Access
Multi-omics analysis identifies mitochondrial dysfunction in CD83+ macrophages as a key event in diabetic peripheral neuropathy progression.
Lin Y et al.·Neurobiol Dis
2026
Pan-cancer single-cell transcriptomic analysis reveals CD83 as a hallmark of tumor-associated neutrophils with senescent and pro-tumor properties.
Wang Y et al.·Comput Struct Biotechnol J
2025🔓 Open Access
Mature CD209+CD83+CCR7+ dendritic cells infiltrate the arterial wall in giant cell arteritis and derive from in-situ monocyte differentiation.
Ramon A et al.·Sci Rep
2025🔓 Open Access
Mechanism of CD83 expression induction through dectin-1 and β-glucan interaction in innate immune responses.
Arima N et al.·Immunol Cell Biol
2025Functional
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools