TNFSF8

Chr 9

TNF superfamily member 8

Also known as: CD153, CD30L, CD30LG, TNLG3A

The protein encoded by TNFSF8 is a cytokine that binds to TNFRSF8/CD30 and induces T-cell proliferation, while also inhibiting immunoglobulin class switching in B cells. The gene has a high probability of loss-of-function intolerance (pLI = 0.76) and low tolerance for missense variants (LOEUF = 0.525), suggesting mutations would likely cause disease, though specific neurogenetic disorders associated with TNFSF8 mutations have not been established in the provided information.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.53
Clinical SummaryTNFSF8
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.76) — some intolerance to loss-of-function variants.
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Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint
0.53LOEUF
pLI 0.758
Z-score 2.48
OE 0.11 (0.040.53)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
0.83Z-score
OE missense 0.79 (0.670.93)
99 obs / 125.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.11 (0.040.53)
00.351.4
Missense OE0.79 (0.670.93)
00.61.4
Synonymous OE0.88
01.21.6
LoF obs/exp: 1 / 9.0Missense obs/exp: 99 / 125.3Syn Z: 0.67

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TNFSF8 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold
Clinical Literature
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