TRAF2

Chr 9

TNF receptor associated factor 2

This adapter protein regulates NF-kappaB signaling pathways and antiviral innate immunity by controlling IKK activation and forming deubiquitination complexes that attenuate inflammatory responses. Mutations cause autosomal dominant immunodeficiency with susceptibility to viral infections and inflammatory complications. The gene is highly constrained against loss-of-function variants, indicating intolerance to protein disruption.

OMIMResearchSummary from UniProt
LOFmechanismLOEUF 0.12
Clinical SummaryTRAF2
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
Some data sources returned errors (1)

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint
0.12LOEUF
pLI 1.000
Z-score 4.56
OE 0.00 (0.000.12)
Highly constrained

Among the most LoF-intolerant genes (~top 3%)

Missense Constraint
1.56Z-score
OE missense 0.76 (0.680.84)
252 obs / 332.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.00 (0.000.12)
00.351.4
Missense OE0.76 (0.680.84)
00.61.4
Synonymous OE1.25
01.21.6
LoF obs/exp: 0 / 24.2Missense obs/exp: 252 / 332.1Syn Z: -2.34
DN
0.3594th %ile
GOF
0.4579th %ile
LOF
0.66top 25%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.12

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TRAF2 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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