RPL8

Chr 8

ribosomal protein L8

ENSG00000161016UniProt: P62917

Component of the large ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell

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1
Active trials
17
Pubs (1 yr)
0
P/LP submissions
—
P/LP missense
0.31
LOEUF· LoF intol.
LOF
Mechanism· predicted
Clinical Summary— RPL8
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.96). One damaged copy is likely sufficient to cause disease.
💊
Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →
Some data sources returned errors (1)

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.31LOEUF
pLI 0.955
Z-score 2.89
OE 0.00 (0.00–0.31)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
1.75Z-score
OE missense 0.62 (0.53–0.73)
106 obs / 170.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.00 (0.00–0.31)
0≤0.351.4
Missense OE0.62 (0.53–0.73)
0≤0.61.4
Synonymous OE1.39
0≤1.21.6
LoF obs/exp: 0 / 9.7Missense obs/exp: 106 / 170.2Syn Z: -2.46
DN
0.2698th %ile
GOF
0.2198th %ile
LOF
0.85top 5%

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

LOFprediction above median · LOEUF 0.31

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

ClinVar

Protein Context — Lollipop Plot

RPL8 · protein map & ClinVar variants

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

Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Integrated spatial and single-cell transcriptomics reveals RPL8 as a prognostic biomarker and therapeutic target in hepatocellular carcinoma.
Tan J et al.·Transl Oncol
2026Open Access
Uncovering the role of RPL8 in glutathione synthesis-dependent ferroptosis control in hepatocellular carcinoma.
Luo J et al.·Arch Med Sci
2025Open Access
Integrative Multi-Omics Analysis of Identified Ferroptosis-Marker RPL8 as a Candidate Oncogene Correlates with Poor Prognosis and Immune Infiltration in Liver Cancer.
Fan S et al.·Comb Chem High Throughput Screen
2023
Silencing RPL8 inhibits the progression of hepatocellular carcinoma by down-regulating the mTORC1 signalling pathway.
Sun T et al.·Hum Cell
2023
Functionally impaired RPL8 variants associated with Diamond-Blackfan anemia and a Diamond-Blackfan anemia-like phenotype.
Lebaron S et al.·Hum Mutat
2022Functional
Top 5 resultsSearch Europe PMC ↗

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