RNF151

Chr 16

ring finger protein 151

RNF151 encodes a protein predicted to have zinc ion binding activity and may be involved in acrosome formation during sperm development. The gene is highly constrained against loss-of-function variation (pLI = 0.0002), suggesting that mutations would likely be pathogenic, but no specific human diseases have been definitively associated with RNF151 variants to date. Given the predicted role in spermatogenesis and high constraint, mutations might be expected to cause male infertility or broader developmental disorders.

ResearchSummary from RefSeq, UniProt
GOFmechanismLOEUF 1.65
Clinical SummaryRNF151
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.65LOEUF
pLI 0.000
Z-score 0.31
OE 0.87 (0.471.65)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.31Z-score
OE missense 0.93 (0.821.07)
154 obs / 165.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.87 (0.471.65)
00.351.4
Missense OE0.93 (0.821.07)
00.61.4
Synonymous OE1.20
01.21.6
LoF obs/exp: 6 / 6.9Missense obs/exp: 154 / 165.2Syn Z: -1.28
DN
0.5379th %ile
GOF
0.7029th %ile
LOF
0.3453th %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

RNF151 · 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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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC