RPL13

Chr 16AD

ribosomal protein L13

ENSG00000167526UniProt: P26373OMIM: 113703

This protein is a component of the large 60S ribosomal subunit that catalyzes peptide bond formation during protein synthesis and plays a role in bone development. Mutations cause spondyloepimetaphyseal dysplasia, Isidor-Toutain type, inherited in an autosomal dominant pattern. The gene is highly constrained against loss-of-function variants (pLI 0.95, LOEUF 0.32), suggesting intolerance to protein loss.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismADLOEUF 0.321 OMIM phenotype
Clinical Summary— RPL13
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.95). One damaged copy is likely sufficient to cause disease.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.32LOEUF
pLI 0.951
Z-score 2.85
OE 0.00 (0.00–0.32)
Highly constrained

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

Missense Constraint
-0.32Z-score
OE missense 1.08 (0.94–1.24)
141 obs / 130.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.00 (0.00–0.32)
0≤0.351.4
Missense OE1.08 (0.94–1.24)
0≤0.61.4
Synonymous OE1.24
0≤1.21.6
LoF obs/exp: 0 / 9.5Missense obs/exp: 141 / 130.7Syn Z: -1.36
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
limitedRPL13-related spondyloepimetaphyseal dysplasia with severe short statureOTHERAD
DN
0.3694th %ile
GOF
0.1899th %ile
LOF
0.75top 10%

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

LOFprediction above median · LOEUF 0.32

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

RPL13 · 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

ClinicalTrials.gov

No active trials found for this gene.

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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
Beyond the Known: Expanding the Clinical and Genetic Spectrum of Rare RPL13-Related Spondyloepimetaphyseal Dysplasia.
Gorodilova D et al.·Int J Mol Sci
2025Open Access
Bombyx mori RPL13 participates in UV-induced DNA damage repair of B. mori nucleopolyhedrovirus through interaction with Bm65.
Tang Q et al.·Insect Mol Biol
2024
[Clinical and genetic analysis of a patient with short stature due to variant of RPL13 gene].
Wen H et al.·Zhonghua Yi Xue Yi Chuan Xue Za Zhi
2024
Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13.
Jacob P et al.·NPJ Genom Med
2023Open Access
Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13-related: Description of 11 further cases.
Díaz-González F et al.·Clin Genet
2023Cohort
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