RPS26

Chr 12

ribosomal protein S26

Also known as: DBA10, S26, eS26

NCBI Gene: 6231ENSG00000197728UniProt: P62854

This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S26E family of ribosomal proteins. Mutations in this gene are found in Diamond-Blackfan anemia 10. There are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Aug 2017]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDiamond-Blackfan anemia 10

Clinical highlights

Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
28
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.48
LOEUF
LOF
Mechanism· G2P
📖
GeneReview available — RPS26
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.48LOEUF
pLI 0.848
Z-score 2.31
OE 0.00 (0.00–0.48)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.93Z-score
OE missense 0.35 (0.26–0.49)
25 obs / 70.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.00 (0.00–0.48)
0≤0.351.4
Missense OE?0.35 (0.26–0.49)
0≤0.61.4
Synonymous OE?1.51
0≤1.21.6
LoF obs/exp: 0 / 6.2Missense obs/exp: 25 / 70.7Syn Z: -1.89

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RPS26 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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