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GeneE
26 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.
RPS20
ribosomal protein S20
Chromosome 8 Β· 8q12.1
NCBI Gene: 6224Ensembl: ENSG00000008988.12HGNC: HGNC:10405UniProt: P60866
282PubMed Papers
20Diseases
6Drugs
7Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Trending
CLINICAL
FDA Approved Target
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cytosolic small ribosomal subunitmembranecytosolic ribosomeextracellular exosomeDiamond-Blackfan anemiaBlackfan-Diamond anemiainfluenzaDuchenne muscular dystrophy
✦AI Summary

RPS20 encodes ribosomal protein S20, a structural component of the cytosolic small ribosomal subunit (40S) essential for protein synthesis 1. Beyond its canonical ribosomal function, RPS20 plays critical regulatory roles in cell proliferation and cancer biology. The protein interacts with nucleolar GTPase GNL1 to promote cell cycle progression through retinoblastoma protein hyperphosphorylation, and this interaction is essential for cell growth 2. RPS20 deficiency causes ribosomal shortage and reorganizes cellular translation patterns based on mRNA abundance, GC content, and coding sequence length 3. In disease contexts, RPS20 expression is upregulated in Alzheimer's disease brain capillaries alongside protein processing machinery 4 and functions as an oncogene in renal cell carcinoma by activating AKT-mTOR and ERK-MAPK signaling pathways 5. Paradoxically, germline RPS20 variants predispose to hereditary colorectal cancer, with only rare pathogenic variants reported 6. The protein can undergo post-translational sulfhydration, which enhances its binding to MCM2 mRNA and promotes intestinal epithelial proliferation, potentially protecting against colitis 7. These findings highlight RPS20's dual roles as both a ribosomal component and a context-dependent regulator of cellular processes.

Sources cited
1
RPS20 is a component of the small ribosomal subunit responsible for protein synthesis
PMID: 23636399
2
RPS20 interacts with GNL1 to promote cell proliferation through retinoblastoma protein hyperphosphorylation
PMID: 30061673
3
RPS20 deficiency causes ribosomal shortage and reorganizes translation based on mRNA characteristics
PMID: 38290548
4
RPS20 is upregulated in Alzheimer's disease brain capillaries
PMID: 35766008
5
RPS20 functions as an oncogene in renal cell carcinoma through AKT-mTOR and ERK-MAPK pathways
PMID: 36484407
6
Germline RPS20 variants predispose to hereditary colorectal cancer
PMID: 39920491
7
Sulfhydrated RPS20 binds MCM2 mRNA and promotes intestinal epithelial proliferation
PMID: 40399407
Disease Associationsβ“˜20
Diamond-Blackfan anemiaOpen Targets
0.55Moderate
Blackfan-Diamond anemiaOpen Targets
0.54Moderate
influenzaOpen Targets
0.46Moderate
Duchenne muscular dystrophyOpen Targets
0.46Moderate
familial colorectal cancer type XOpen Targets
0.40Moderate
cystic fibrosisOpen Targets
0.39Weak
COVID-19Open Targets
0.37Weak
severe acute respiratory syndromeOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.35Weak
Abnormality of the skeletal systemOpen Targets
0.30Weak
hereditary neoplastic syndromeOpen Targets
0.27Weak
Inherited cancer-predisposing syndromeOpen Targets
0.27Weak
hereditary nonpolyposis colon cancerOpen Targets
0.18Weak
osteoarthritis, kneeOpen Targets
0.12Weak
aniridiaOpen Targets
0.10Suggestive
Becker muscular dystrophyOpen Targets
0.10Suggestive
non-Hodgkins lymphomaOpen Targets
0.09Suggestive
genetic disorderOpen Targets
0.09Suggestive
hepatitis B virus infectionOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
Pathogenic Variants7
NM_001023.4(RPS20):c.143_144del (p.Leu48fs)Pathogenic
not specified
β˜…β˜†β˜†β˜†2025β†’ Residue 48
NM_001023.4(RPS20):c.136_140del (p.Lys46fs)Pathogenic
not specified
β˜…β˜†β˜†β˜†2025β†’ Residue 46
NM_001023.4(RPS20):c.32_33del (p.Val11fs)Likely pathogenic
not specified
β˜…β˜†β˜†β˜†2025β†’ Residue 11
NM_001023.4(RPS20):c.3+1G>ALikely pathogenic
not specified
β˜…β˜†β˜†β˜†2025
NM_001023.4(RPS20):c.178-2A>CLikely pathogenic
Hereditary cancer-predisposing syndrome
β˜…β˜†β˜†β˜†2025
NM_001023.4(RPS20):c.251T>G (p.Ile84Ser)Pathogenic
Diamond-Blackfan anemia
β˜…β˜†β˜†β˜†β†’ Residue 84
NM_001023.4(RPS20):c.251T>A (p.Ile84Asn)Pathogenic
Diamond-Blackfan anemia
β˜…β˜†β˜†β˜†β†’ Residue 84
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
EEF2Protein interaction100%EIF5AProtein interaction100%ETF1Protein interaction100%FANCEProtein interaction100%FLT3LGProtein interaction100%GSPT1Protein interaction100%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
66%
Brain
48%
Lung
47%
Liver
39%
Heart
31%
Gene Interaction Network
Click a node to explore
RPS20EEF2EIF5AETF1FANCEFLT3LGGSPT1
PROTEIN STRUCTURE
Preparing viewer…
PDB8GLP Β· 1.67 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.48Moderately Constrained
pLIβ“˜
0.97Intolerant
Observed/Expected LoF0.15 [0.06–0.48]
RankingsWhere RPS20 stands among ~20K protein-coding genes
  • #1,282of 20,598
    Most Researched282 Β· top 10%
  • #805of 1,025
    FDA-Approved Drug Targets1
  • #3,153of 5,498
    Most Pathogenic Variants7
  • #2,811of 17,882
    Most Constrained (LOEUF)0.48 Β· top quartile
Genes detectedRPS20
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Genetic Predisposition to Colorectal Cancer: How Many and Which Genes to Test?
PMID: 36768460
Int J Mol Sci Β· 2023
1.00
2
Interplay between human nucleolar GNL1 and RPS20 is critical to modulate cell proliferation.
PMID: 30061673
Sci Rep Β· 2018
0.90
3
Upregulation of ribosome complexes at the blood-brain barrier in Alzheimer's disease patients.
PMID: 35766008
J Cereb Blood Flow Metab Β· 2022
0.80
4
New RPS20 gene variant in colorectal cancer diagnosis: insight from a large series of patients.
PMID: 39920491
Fam Cancer Β· 2025
0.70
5
ATXN2L primarily interacts with NUFIP2, the absence of ATXN2L results in NUFIP2 depletion, and the ATXN2-polyQ expansion triggers NUFIP2 accumulation.
PMID: 40220918
Neurobiol Dis Β· 2025
0.68