RNF11

Chr 1

ring finger protein 11

Also known as: CGI-123, SID1669

RNF11 encodes a RING-H2 finger protein that functions as an essential component of a ubiquitin-editing complex that terminates inflammatory signaling pathways by promoting RIPK1 degradation and downregulating NF-kappa-B activation. The gene shows significant constraint against loss-of-function variants (LOEUF 0.69), but pathogenic variants and associated human disease phenotypes have not yet been established. RNF11 expression is induced by mutant RET proteins associated with multiple endocrine neoplasia, suggesting potential involvement in endocrine signaling pathways.

OMIMResearchSummary from RefSeq, UniProt
GOFmechanismLOEUF 0.69
Clinical SummaryRNF11
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.58) — some intolerance to loss-of-function variants.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint
0.69LOEUF
pLI 0.579
Z-score 2.08
OE 0.15 (0.050.69)
Moderately constrained

Typical tolerance to LoF variation

Missense Constraint
1.48Z-score
OE missense 0.55 (0.440.70)
48 obs / 86.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.15 (0.050.69)
00.351.4
Missense OE0.55 (0.440.70)
00.61.4
Synonymous OE0.93
01.21.6
LoF obs/exp: 1 / 6.9Missense obs/exp: 48 / 86.7Syn Z: 0.32
DN
0.5772th %ile
GOF
0.6737th %ile
LOF
0.4332th %ile

The highest-scoring mechanism for this gene is gain-of-function.

GOFprediction above median

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

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

RNF11 · 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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