TNFRSF8

Chr 1

TNF receptor superfamily member 8

Also known as: CD30, D1S166E, Ki-1

NCBI Gene: 943ENSG00000120949UniProt: P28908

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]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
10
Active trials
14
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.36
LOEUF
GOF
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.36LOEUF
pLI 0.864
Z-score 4.35
OE 0.18 (0.10–0.36)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.94Z-score
OE missense 0.86 (0.79–0.95)
320 obs / 371.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.18 (0.10–0.36)
0≤0.351.4
Missense OE?0.86 (0.79–0.95)
0≤0.61.4
Synonymous OE?0.97
0≤1.21.6
LoF obs/exp: 6 / 33.0Missense obs/exp: 320 / 371.0Syn Z: 0.30

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TNFRSF8 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Head and Neck Cancers

The Role of Dietary Fiber in Mitigating Sarcopenia Risk in Head and Neck Cancer

RECRUITING
NCT07622914University of OklahomaStarted 2025-10-31
Lymphoma, B-Cell

CD30 CAR-T in the Treatment of CD30 Positive Relapsed/Refractory Lymphoma

RECRUITING
NCT06850285Phase NAShanxi Bethune HospitalStarted 2025-09-05
chimeric antigen receptor gene modified T cells
LymphomaLymphoma, Non-HodgkinImmune System Diseases

Study of CD30 CAR for Relapsed/Refractory CD30+ HL and CD30+ NHL

ACTIVE NOT RECRUITING
NCT02690545Phase PHASE1, PHASE2UNC Lineberger Comprehensive Cancer CenterStarted 2016-08-26
ATLCAR.CD30 cells
LymphomaB Cell LymphomaCD30+ Peripheral T-cell Lymphoma

CD30 CAR-T in the Treatment of CD30 Positive Lymphoma

NOT YET RECRUITING
NCT07048353Phase EARLY_PHASE1Shandong Qilu Cell Therapy Engineering Technology Co., LtdStarted 2025-07-28
chimeric antigen receptor gene modified T cells
Recurrent Classic Hodgkin LymphomaRefractory Classic Hodgkin Lymphoma

Brentuximab Vedotin and Nivolumab With or Without Ipilimumab in Treating Patients With Relapsed or Refractory Hodgkin Lymphoma

ACTIVE NOT RECRUITING
NCT01896999Phase PHASE1, PHASE2National Cancer Institute (NCI)Started 2014-03-07
Biopsy ProcedureBiospecimen CollectionBrentuximab Vedotin
LymphomaImmune System DiseasesImmunoproliferative Disorders

Study of CAR-T Cells Expressing CD30 and CCR4 for r/r CD30+ HL and CTCL

ACTIVE NOT RECRUITING
NCT03602157Phase PHASE1UNC Lineberger Comprehensive Cancer CenterStarted 2018-10-29
ATLCAR.CD30.CCR4 cellsALTCAR.CD30 cellsBendamustine
Hodgkin DiseaseLymphomaLymphoma, Non-Hodgkin

Administration of T Lymphocytes for Prevention of Relapse of Lymphomas

ACTIVE NOT RECRUITING
NCT02663297Phase PHASE1UNC Lineberger Comprehensive Cancer CenterStarted 2016-06-07
ATLCAR.CD30 cells
Cardiovascular DiseaseFrailty

Investigating the Combined Effects of Protein, Blueberries, and Exercise on Cardiovascular Health and Frailty in Older Nova Scotians

RECRUITING
NCT06693271Phase NANova Scotia Health AuthorityStarted 2025-12-15
intervention of protein, blueberriesExercise training
CD30-Positive Diffuse Large B-Cell LymphomaAnaplastic Large Cell Lymphoma, T Cell and Null Cell TypeAnaplastic Large Cell Lymphoma, ALK-Positive

Constitutive IL7R (C7R) Modified Banked Allogeneic CD30.CAR EBVSTS for CD30-Positive Lymphomas

RECRUITING
NCT06176690Phase PHASE1Baylor College of MedicineStarted 2025-10-27
C7R.CD30.CAR-EBVST cells
Diffuse Large B-Cell Lymphoma (DLBCL)Hodgkin LymphomaPeripheral T-cell Lymphoma (PTCL)

Autologous IC-Nine, CD30 CAR, and Constitutive IL7R Expressing EBVST for CD30 Lymphoma (ANCILE-30)

NOT YET RECRUITING
NCT07729397Phase PHASE1The Methodist Hospital Research InstituteStarted 2027-01-15
Autologous C7R.CD30-CAR-EBVSTs

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients