TNFRSF8
Chr 1TNF receptor superfamily member 8
Also known as: CD30, D1S166E, Ki-1
The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is expressed by activated, but not by resting, T and B cells. TRAF2 and TRAF5 can interact with this receptor, and mediate the signal transduction that leads to the activation of NF-kappaB. This receptor is a positive regulator of apoptosis, and also has been shown to limit the proliferative potential of autoreactive CD8 effector T cells and protect the body against autoimmunity. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
This gene — mechanism propensity
The highest-scoring mechanism for this gene is gain-of-function.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
118 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 0 | 0 | 0 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 85 | 0 | 0 | 85 |
Likely Benign | 0 | 15 | 1 | 1 | 17 |
Benign | 0 | 1 | 0 | 5 | 6 |
| Total | 0 | 101 | 1 | 6 | 108 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →38 pathogenic / likely-pathogenic (of 50) ClinVar copy-number / structural variants overlap TNFRSF8 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →
Protein Context — Lollipop Plot
TNFRSF8 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Brentuximab Vedotin and Nivolumab With or Without Ipilimumab in Treating Patients With Relapsed or Refractory Hodgkin Lymphoma
ACTIVE NOT RECRUITINGStudy of CD30 CAR for Relapsed/Refractory CD30+ HL and CD30+ NHL
ACTIVE NOT RECRUITINGStudy of CAR-T Cells Expressing CD30 and CCR4 for r/r CD30+ HL and CTCL
ACTIVE NOT RECRUITINGThe Role of Dietary Fiber in Mitigating Sarcopenia Risk in Head and Neck Cancer
RECRUITINGConstitutive IL7R (C7R) Modified Banked Allogeneic CD30.CAR EBVSTS for CD30-Positive Lymphomas
RECRUITINGCD30 CAR-T in the Treatment of CD30 Positive Lymphoma
NOT YET RECRUITINGCD30 CAR-T in the Treatment of CD30 Positive Relapsed/Refractory Lymphoma
RECRUITINGAdministration of T Lymphocytes for Prevention of Relapse of Lymphomas
ACTIVE NOT RECRUITINGInvestigating the Combined Effects of Protein, Blueberries, and Exercise on Cardiovascular Health and Frailty in Older Nova Scotians
RECRUITINGExternal Resources
Links to major genomics databases and tools