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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
RPS26
ribosomal protein S26
Chromosome 12 Β· 12q13.2
NCBI Gene: 6231Ensembl: ENSG00000197728.12HGNC: HGNC:10414UniProt: P62854
221PubMed Papers
21Diseases
6Drugs
34Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub Gene
RESEARCH IMPACT
Trending
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
RNA bindingmRNA bindingstructural constituent of ribosomeprotein bindingBlackfan-Diamond anemiaDiamond-Blackfan anemiainherited bone marrow failure syndromeinfluenza
✦AI Summary

RPS26 encodes a structural component of the 40S ribosomal subunit essential for protein synthesis 123. As part of the small ribosomal subunit, RPS26 participates in both canonical translation and noncanonical repeat-associated non-AUG (RAN) translation mechanisms 4. RPS26 insufficiency specifically impairs biosynthesis of polyglycine-containing proteins, particularly FMRpolyG produced via RAN translation in fragile X premutation conditions 4. The protein also regulates monocyte proliferation and differentiation; RPS26 knockdown suppresses monocyte maturation and promotes apoptosis, potentially linking to cardiovascular disease risk 5. Pathogenic RPS26 mutations cause Diamond-Blackfan anemia (DBA), a congenital bone marrow failure syndrome characterized by erythroid aplasia and cancer predisposition 6. Notably, patients with RPS26 mutations show worse steroid responsiveness (47% versus 87.5% for RPS10 mutations) but greater dependence on RBC transfusions 6. RPS26 is implicated in type 1 diabetes susceptibility at the 12q13 locus, though the expression-disease relationship remains statistically independent 78. Recent transcriptomic analyses identify RPS26 as a genetic network hub in diabetic retinopathy pathogenesis 9, and differential expression occurs in IgA nephropathy mesangial cells 10.

Sources cited
1
RPS26 is a component of the small ribosomal subunit responsible for protein synthesis
PMID: 23636399
2
RPS26 is a component of the small ribosomal subunit responsible for protein synthesis
PMID: 25901680
3
RPS26 is a component of the small ribosomal subunit responsible for protein synthesis
PMID: 25957688
4
RPS26 insufficiency impairs FMRpolyG biosynthesis in fragile X conditions and affects translation of GC-rich proteins
PMID: 40377206
5
RPS26 knockdown suppresses monocyte proliferation and maturation, with reduced RPS26 expression in ADHD monocytes
PMID: 40653146
6
RPS26 mutations cause Diamond-Blackfan anemia with inferior steroid response (47%) compared to RPS10 mutations (87.5%)
PMID: 37376976
7
RPS26 cis-regulation colocalizes with type 1 diabetes susceptibility locus but shows statistical independence
PMID: 19039033
8
RPS26 is part of IKZF4-RPS26-ERBB3 locus associated with type 1 diabetes risk in multi-ancestry GWAS
PMID: 38453145
9
RPS26 identified as a genetic network hub in diabetic retinopathy through TWAS analysis
PMID: 39719581
10
RPS26 is upregulated in mesangial cells of IgA nephropathy patients
PMID: 33754492
Disease Associationsβ“˜21
Blackfan-Diamond anemiaOpen Targets
0.83Strong
Diamond-Blackfan anemiaOpen Targets
0.76Strong
inherited bone marrow failure syndromeOpen Targets
0.50Moderate
influenzaOpen Targets
0.46Moderate
minimally differentiated acute myeloblastic leukemiaOpen Targets
0.46Moderate
Duchenne muscular dystrophyOpen Targets
0.46Moderate
asthmaOpen Targets
0.45Moderate
type 1 diabetes mellitusOpen Targets
0.44Moderate
COVID-19Open Targets
0.39Weak
cystic fibrosisOpen Targets
0.39Weak
cleft palateOpen Targets
0.38Weak
severe acute respiratory syndromeOpen Targets
0.37Weak
chronic rhinosinusitis with nasal polypsOpen Targets
0.32Weak
chronic rhinosinusitisOpen Targets
0.31Weak
intelligenceOpen Targets
0.27Weak
anemiaOpen Targets
0.26Weak
pure red-cell aplasiaOpen Targets
0.26Weak
allergic diseaseOpen Targets
0.26Weak
mathematical abilityOpen Targets
0.24Weak
hypothyroidismOpen Targets
0.22Weak
Diamond-Blackfan anemia 10UniProt
Pathogenic Variants34
NM_001029.5(RPS26):c.3+1G>TPathogenic
Diamond-Blackfan anemia|Diamond-Blackfan anemia 10
β˜…β˜…β˜†β˜†2025
NM_001029.5(RPS26):c.1A>G (p.Met1Val)Pathogenic
Diamond-Blackfan anemia 10|Diamond-Blackfan anemia|not provided|Ovarian serous cystadenocarcinoma
β˜…β˜…β˜†β˜†2025β†’ Residue 1
NM_001029.5(RPS26):c.55C>T (p.Gln19Ter)Pathogenic
Diamond-Blackfan anemia 10|Diamond-Blackfan anemia
β˜…β˜…β˜†β˜†2025β†’ Residue 19
NM_001029.5(RPS26):c.1A>T (p.Met1Leu)Pathogenic
Diamond-Blackfan anemia 10|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 1
NM_001029.5(RPS26):c.73_76del (p.Asn25fs)Pathogenic
Diamond-Blackfan anemia 10|Diamond-Blackfan anemia
β˜…β˜…β˜†β˜†2024β†’ Residue 25
NM_001029.5(RPS26):c.9_12del (p.Lys4fs)Pathogenic
Diamond-Blackfan anemia 10|Diamond-Blackfan anemia
β˜…β˜…β˜†β˜†2024β†’ Residue 4
NM_001029.5(RPS26):c.2T>C (p.Met1Thr)Pathogenic
Diamond-Blackfan anemia|Diamond-Blackfan anemia 10
β˜…β˜…β˜†β˜†2024β†’ Residue 1
NM_001029.5(RPS26):c.82C>T (p.Arg28Ter)Pathogenic
Diamond-Blackfan anemia 10
β˜…β˜…β˜†β˜†2024β†’ Residue 28
NM_001029.5(RPS26):c.224_225del (p.Val75fs)Pathogenic
Diamond-Blackfan anemia 10
β˜…β˜…β˜†β˜†2024β†’ Residue 75
NM_001029.5(RPS26):c.3+2T>GLikely pathogenic
Diamond-Blackfan anemia 10
β˜…β˜…β˜†β˜†2021
NM_001029.5(RPS26):c.259C>T (p.Arg87Ter)Pathogenic
Diamond-Blackfan anemia 10|Diamond-Blackfan anemia 15 with mandibulofacial dysostosis|Diamond-Blackfan anemia
β˜…β˜…β˜†β˜†2019β†’ Residue 87
NM_001029.5(RPS26):c.103del (p.Ala35fs)Pathogenic
Diamond-Blackfan anemia 10
β˜…β˜†β˜†β˜†2024β†’ Residue 35
NM_001029.5(RPS26):c.4-1_6delPathogenic
Diamond-Blackfan anemia 10
β˜…β˜†β˜†β˜†2024
NM_001029.5(RPS26):c.17_20del (p.Arg6fs)Pathogenic
Diamond-Blackfan anemia 10
β˜…β˜†β˜†β˜†2024β†’ Residue 6
NM_001029.5(RPS26):c.19_25dup (p.Gly9fs)Pathogenic
Diamond-Blackfan anemia
β˜…β˜†β˜†β˜†2023β†’ Residue 9
NM_001029.5(RPS26):c.182-1G>CLikely pathogenic
Diamond-Blackfan anemia 10
β˜…β˜†β˜†β˜†2023
NM_001029.5(RPS26):c.78_79del (p.Ala27fs)Pathogenic
Diamond-Blackfan anemia 10
β˜…β˜†β˜†β˜†2023β†’ Residue 27
NM_001029.5(RPS26):c.2T>A (p.Met1Lys)Likely pathogenic
Diamond-Blackfan anemia 10
β˜…β˜†β˜†β˜†2023β†’ Residue 1
NM_001029.5(RPS26):c.181+1G>ALikely pathogenic
Diamond-Blackfan anemia 10
β˜…β˜†β˜†β˜†2021
NM_001029.5(RPS26):c.2T>G (p.Met1Arg)Pathogenic
Diamond-Blackfan anemia 10
β˜…β˜†β˜†β˜†2019β†’ Residue 1
View on ClinVar β†—
Drug Targets6
ATALURENApproved
80S Ribosome modulator
Duchenne muscular dystrophy
CITATUZUMAB BOGATOXPhase I
Epithelial cell adhesion molecule binding agent
ELX-02Phase II
80S Ribosome modulator
cystic fibrosis
MT-3724Phase II
80S Ribosome inhibitor
diffuse large B-cell lymphoma
TELIMOMAB ARITOXPhase II
T-cell surface glycoprotein CD5 binding agent
hepatitis B virus infection
ZOLIMOMAB ARITOXPhase II
T-cell surface glycoprotein CD5 binding agent
arthritis
Related Genes
ABCF1Protein interaction100%NR0B1Protein interaction100%DHX9Protein interaction100%EEF1GProtein interaction100%EEF2Protein interaction100%ETF1Protein interaction100%
Tissue Expression6 tissues
Ovary
100%
Liver
72%
Lung
56%
Brain
32%
Bone Marrow
27%
Heart
17%
Gene Interaction Network
Click a node to explore
RPS26ABCF1NR0B1DHX9EEF1GEEF2ETF1
PROTEIN STRUCTURE
Preparing viewer…
PDB8GLP Β· 1.67 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.32Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.07 [0.02–0.32]
RankingsWhere RPS26 stands among ~20K protein-coding genes
  • #1,862of 20,598
    Most Researched221 Β· top 10%
  • #852of 1,025
    FDA-Approved Drug Targets1
  • #1,692of 5,498
    Most Pathogenic Variants34
  • #1,290of 17,882
    Most Constrained (LOEUF)0.32 Β· top 10%
Genes detectedRPS26
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
A single-cell survey of the human glomerulonephritis.
PMID: 33754492
J Cell Mol Med Β· 2021
1.00
2
Identification of novel mutations in patients with Diamond-Blackfan anemia and literature review of RPS10 and RPS26 mutations.
PMID: 37376976
Int J Lab Hematol Β· 2023
0.90
3
Integration of multi-omics transcriptome-wide analysis for the identification of novel therapeutic drug targets in diabetic retinopathy.
PMID: 39719581
J Transl Med Β· 2024
0.80
4
[Enhancer trapping nearby rps26 gene in zebrafish mediated by the Tol2 transposon and it's annotation].
PMID: 29577695
Sheng Wu Gong Cheng Xue Bao Β· 2018
0.70
5
The ribosomal protein S26 regulates p53 activity in response to DNA damage.
PMID: 23728348
Oncogene Β· 2014
0.68