RPL3L

Chr 16AR

ribosomal protein L3 like

Also known as: CMD2D

NCBI Gene: 6123ENSG00000140986UniProt: Q92901OMIM: 617416

This protein is a heart- and skeletal muscle-specific ribosomal component that replaces the standard RPL3 paralog in striated muscle cells and regulates muscle function by inhibiting myotube growth. Mutations cause autosomal recessive dilated cardiomyopathy, primarily affecting cardiac muscle with potential involvement of skeletal muscle given the protein's tissue distribution. The gene shows low constraint against loss-of-function variants, consistent with its tissue-restricted expression pattern.

OMIMResearchSummary from RefSeq, OMIM, UniProt
ARLOEUF 1.611 OMIM phenotype
Clinical Summary— RPL3L
🧬
Gene-Disease Validity (ClinGen)
cardiomyopathy, dilated, 2D · ARModerate

Moderate evidence — consider for supplementary testing

⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.61LOEUF
pLI 0.000
Z-score -0.53
OE 1.13 (0.81–1.61)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.69Z-score
OE missense 1.12 (1.02–1.23)
301 obs / 269.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE1.13 (0.81–1.61)
0≤0.351.4
Missense OE1.12 (1.02–1.23)
0≤0.61.4
Synonymous OE1.31
0≤1.21.6
LoF obs/exp: 22 / 19.5Missense obs/exp: 301 / 269.3Syn Z: -2.58

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RPL3L · 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
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Novel compound heterozygous variants in the RPL3L gene causing dilated cardiomyopathy type-2D: a case report and literature review.
Yang Q et al.·BMC Med Genomics
2023Review
Genetic Determinants of Electrocardiographic P-Wave Duration and Relation to Atrial Fibrillation.
Weng LC et al.·Circ Genom Precis Med
2020Meta-analysis
Novel Compound Heterozygous Missense Variants in RPL3L Gene Associated With Neonatal Dilated Cardiomyopathy.
Zhang X et al.·Am J Med Genet A
2026Case report
Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis.
Ganapathi M et al.·Hum Genet
2020
Whole exome sequencing reveals pathogenic variants in MYO3A, MYO15A and COL9A3 and differential frequencies in ancestral alleles in hearing impairment genes among individuals from Cameroon.
Wonkam A et al.·Hum Mol Genet
2021
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
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