RPL27

Chr 17AD

ribosomal protein L27

ENSG00000131469UniProt: P61353

Component of the large ribosomal subunit (PubMed:12962325, PubMed:23636399, PubMed:25901680, PubMed:25957688, PubMed:32669547). Required for proper rRNA processing and maturation of 28S and 5.8S rRNAs (PubMed:25424902)

Primary Disease Associations & Inheritance

?Diamond-Blackfan anemia 16MIM #617408
AD
0
Active trials
0
Pathogenic / LP
0
ClinVar variants
2
Pubs (1 yr)
1.1
Missense Z
0.48
LOEUF
Clinical Summary— RPL27
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.85) — some intolerance to loss-of-function variants.
Some data sources returned errors (1)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.48LOEUF
pLI 0.850
Z-score 2.31
OE 0.00 (0.00–0.48)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
1.14Z-score
OE missense 0.65 (0.52–0.81)
54 obs / 83.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.00 (0.00–0.48)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.65 (0.52–0.81)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.40
0≤1.21.6
LoF obs/exp: 0 / 6.2Missense obs/exp: 54 / 83.3Syn Z: -1.70

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RPL27 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

?Diamond-Blackfan anemia 16

MIM #617408

Molecular basis of disorder known

Autosomal dominant

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Identification of Genes Associated with Familial Focal Segmental Glomerulosclerosis Through Transcriptomics and In Silico Analysis, Including RPL27, TUBB6, and PFDN5.
Mahmoud AH et al.·Int J Mol Sci
2024
RPL27 contributes to colorectal cancer proliferation and stemness via PLK1 signaling.
Park SY et al.·Int J Oncol
2023
Probable digenic inheritance of Diamond-Blackfan anemia.
Furuta Y et al.·Am J Med Genet A
2024Case report
[Inherited bone marrow failure syndromes].
Okuno Y·Rinsho Ketsueki
2016Review
Potential prognostic biomarkers of hepatocellular carcinoma based on 4D label-free quantitative proteomics analysis pilot investigation.
Suo L et al.·Int J Biol Markers
2024
[Molecular mechanisms underlying the pathology of Diamond-Blackfan anemia].
Toki T et al.·Rinsho Ketsueki
2015Functional
Targets of gene amplification and overexpression at 17q in gastric cancer.
Varis A et al.·Cancer Res
2002
Identification and validation of hub genes of synovial tissue for patients with osteoarthritis and rheumatoid arthritis.
Ge Y et al.·Hereditas
2021Cohort
[Establishment of a human nasopharyngeal carcinoma drug-resistant cell line CNE2/DDP and screening of drug-resistant genes].
Jiang RD et al.·Ai Zheng
2003
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Screening Potential Reference Genes in Tuta absoluta with Real-Time Quantitative PCR Analysis under Different Experimental Conditions
Yang AP et al.·Genes (Basel)
2021
Validation and Evaluation of Reference Genes for Quantitative Real-Time PCR Analysis in Mythimna loreyi (Lepidoptera: Noctuidae)
Wang L et al.·Insects
2024
Comparative proteomic analysis identifies differentially expressed proteins and reveals potential mechanisms of traumatic heterotopic ossification progression
Wei Z et al.·J Orthop Translat
2022Functional
Identification and Stability Assessment of Reference Genes in Helicoverpa armigera Under Plant Secondary Substance and Insecticide Stresses.
Zhao J et al.·Biology (Basel)
2026
Gene Expression Signature of Traumatic Brain Injury
Ma Y et al.·Front Genet
2021
Selection and evaluation of reference genes for quantitative real-time polymerase chain reaction normalization in Pieris melete (Lepidoptera, Pieridae)
Jiang T et al.·J Insect Sci
2025
Top 6 full-text resultsSearch PubTator3 ↗

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