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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.
RPS24
ribosomal protein S24
Chromosome 10 Β· 10q22.3
NCBI Gene: 6229Ensembl: ENSG00000138326.21HGNC: HGNC:10411UniProt: A0A2R8Y849
236PubMed Papers
21Diseases
6Drugs
17Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub Gene
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
small ribosomal subunitcytosolic small ribosomal subunitsmall-subunit processomecytoplasmic translationBlackfan-Diamond anemiaDiamond-Blackfan anemiainherited bone marrow failure syndromeinfluenza
✦AI Summary

RPS24 is a structural component of the small (40S) ribosomal subunit essential for protein synthesis 1. Molecularly, RPS24 functions in ribosome biogenesis by processing pre-rRNA and enabling 40S subunit maturation, specifically required for 5' external transcribed spacer processing 2. It participates in the small subunit processome complex, where it coordinates with ribosome assembly factors and RNA processing machinery to facilitate pre-rRNA folding, modification, and targeted degradation 3. RPS24 undergoes tissue-specific alternative splicing producing multiple mRNA isoforms with distinct expression patterns 4, and cancer-associated isoform variations correlate with epithelial-mesenchymal transition and disease progression 5. Clinically, RPS24 mutations cause Diamond-Blackfan anemia, a congenital bone marrow failure syndrome affecting erythroid differentiation 2. In cancer contexts, RPS24 overexpression associates with poor prognosis in hepatocellular carcinoma through enhanced cell proliferation and immunosuppressive microenvironment formation 6. Additionally, RPS24 microexon isoforms serve as predictive biomarkers for therapeutic response in lung adenocarcinoma treated with KRAS inhibitors 7 and in estrogen receptor-positive breast cancer responding to mTOR or CDK4/6 inhibition 8. Brain capillary expression of RPS24 is significantly elevated in Alzheimer's disease patients 9.

Sources cited
1
RPS24 is a component of the small ribosomal subunit responsible for protein synthesis
PMID: 23636399
2
RPS24 is required for pre-rRNA processing and 40S subunit maturation, specifically for 5' external transcribed spacer processing; RPS24 mutations cause Diamond-Blackfan anemia
PMID: 18230666
3
RPS24 participates in the SSU processome complex during small subunit biogenesis in the nucleolus
PMID: 34516797
4
RPS24 undergoes tissue-specific alternative splicing producing multiple mRNA isoforms
PMID: 8647458
5
RPS24 alternative splicing isoforms correlate with epithelial-mesenchymal transition and cancer progression across diverse cancer types
PMID: 38853173
6
RPS24 overexpression in hepatocellular carcinoma associates with poor prognosis through enhanced proliferation and immunosuppressive microenvironment
PMID: 36614249
7
RPS24 microexon isoforms serve as biomarkers for KRAS inhibitor response in lung adenocarcinoma
PMID: 40495480
8
RPS24 3-bp microexon isoform is a biomarker for ER+ breast cancer progression and drug resistance; regulated by PTBP1
PMID: 41258078
9
RPS24 expression is significantly upregulated in brain capillaries of Alzheimer's disease patients
PMID: 35766008
Disease Associationsβ“˜21
Blackfan-Diamond anemiaOpen Targets
0.81Strong
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
cystic fibrosisOpen Targets
0.39Weak
COVID-19Open Targets
0.37Weak
severe acute respiratory syndromeOpen Targets
0.37Weak
Abnormality of blood and blood-forming tissuesOpen Targets
0.27Weak
prostate carcinomaOpen Targets
0.20Weak
adolescent idiopathic scoliosisOpen Targets
0.14Weak
breast diseaseOpen Targets
0.13Weak
corneal neovascularizationOpen Targets
0.13Weak
protozoa infectious diseaseOpen Targets
0.13Weak
esophageal ulcerOpen Targets
0.12Weak
respiratory system diseaseOpen Targets
0.12Weak
muscle crampOpen Targets
0.12Weak
substance-related disorderOpen Targets
0.12Weak
central nervous system infectionOpen Targets
0.11Weak
Diamond-Blackfan anemia 3UniProt
Pathogenic Variants17
NM_033022.4(RPS24):c.46C>T (p.Arg16Ter)Pathogenic
Diamond-Blackfan anemia 3|Diamond-Blackfan anemia|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 16
NM_033022.4(RPS24):c.1A>G (p.Met1Val)Pathogenic
not provided|Diamond-Blackfan anemia
β˜…β˜…β˜†β˜†2018β†’ Residue 1
NM_033022.4(RPS24):c.192dup (p.Gly65fs)Pathogenic
Diamond-Blackfan anemia
β˜…β˜†β˜†β˜†2025β†’ Residue 65
NM_033022.4(RPS24):c.3G>C (p.Met1Ile)Likely pathogenic
Diamond-Blackfan anemia 3
β˜…β˜†β˜†β˜†2025β†’ Residue 1
NM_033022.4(RPS24):c.64C>T (p.Gln22Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 22
NM_033022.4(RPS24):c.292G>T (p.Glu98Ter)Pathogenic
Diamond-Blackfan anemia
β˜…β˜†β˜†β˜†2023β†’ Residue 98
NM_033022.4(RPS24):c.273del (p.Ala92fs)Likely pathogenic
Diamond-Blackfan anemia 3
β˜…β˜†β˜†β˜†2023β†’ Residue 92
NM_033022.4(RPS24):c.69+1G>TLikely pathogenic
Abnormality of blood and blood-forming tissues
β˜…β˜†β˜†β˜†2021
NM_033022.4(RPS24):c.279+5G>TLikely pathogenic
Diamond-Blackfan anemia
β˜…β˜†β˜†β˜†2019
NM_033022.4(RPS24):c.13_14del (p.Val5fs)Pathogenic
Diamond-Blackfan anemia
β˜…β˜†β˜†β˜†2018β†’ Residue 5
NM_033022.4(RPS24):c.148A>C (p.Thr50Pro)Pathogenic
Diamond-Blackfan anemia 3
β˜…β˜†β˜†β˜†2018β†’ Residue 50
NM_033022.4(RPS24):c.2T>C (p.Met1Thr)Pathogenic
Diamond-Blackfan anemia
β˜…β˜†β˜†β˜†2016β†’ Residue 1
NM_033022.4(RPS24):c.66_67del (p.Gln22fs)Pathogenic
Diamond-Blackfan anemia
β˜…β˜†β˜†β˜†2016β†’ Residue 22
NM_033022.4(RPS24):c.157del (p.Asp53fs)Likely pathogenic
Diamond-Blackfan anemia 3
β˜…β˜†β˜†β˜†β†’ Residue 53
NC_000010.11:g.78030403_78035536delPathogenic
Diamond-Blackfan anemia 3
β˜†β˜†β˜†β˜†2013
NM_033022.4(RPS24):c.4_6delinsTACGGATAG (p.Asn2delinsTyrGlyTer)Pathogenic
Diamond-Blackfan anemia 3
β˜†β˜†β˜†β˜†2006β†’ Residue 2
NM_033022.4(RPS24):c.316C>T (p.Gln106Ter)Pathogenic
Diamond-Blackfan anemia 3
β˜†β˜†β˜†β˜†2006β†’ Residue 106
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
EEF1B2Protein interaction100%EEF1DProtein interaction100%EEF1GProtein interaction100%EIF5AProtein interaction100%FANCEProtein interaction100%FLT3LGProtein interaction100%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
95%
Lung
36%
Heart
32%
Liver
31%
Brain
26%
Gene Interaction Network
Click a node to explore
RPS24EEF1B2EEF1DEEF1GEIF5AFANCEFLT3LG
PROTEIN STRUCTURE
Preparing viewer…
PDB8GLP Β· 1.67 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.18Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.00 [0.00–0.18]
RankingsWhere RPS24 stands among ~20K protein-coding genes
  • #1,675of 20,598
    Most Researched236 Β· top 10%
  • #840of 1,025
    FDA-Approved Drug Targets1
  • #2,317of 5,498
    Most Pathogenic Variants17
  • #346of 17,882
    Most Constrained (LOEUF)0.18 Β· top 5%
Genes detectedRPS24
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Upregulation of ribosome complexes at the blood-brain barrier in Alzheimer's disease patients.
PMID: 35766008
J Cereb Blood Flow Metab Β· 2022
1.00
2
RPS24 Is Associated with a Poor Prognosis and Immune Infiltration in Hepatocellular Carcinoma.
PMID: 36614249
Int J Mol Sci Β· 2023
0.90
3
RPS24 alternative splicing is a marker of cancer progression and epithelial-mesenchymal transition.
PMID: 38853173
Sci Rep Β· 2024
0.80
4
Comprehensive Molecular Characterization of Adenocarcinoma of the Gastroesophageal Junction Between Esophageal and Gastric Adenocarcinomas.
PMID: 33086305
Ann Surg Β· 2022
0.70
5
Translation-independent association of mRNAs that encode protomers of the 5-HT
PMID: 40581119
J Biol Chem Β· 2025
0.60