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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
RPS7
ribosomal protein S7
Chromosome 2 Β· 2p25.3
NCBI Gene: 6201Ensembl: ENSG00000171863.16HGNC: HGNC:10440UniProt: P62081
302PubMed Papers
21Diseases
6Drugs
12Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub Gene
RESEARCH IMPACT
Trending
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein-containing complexRNA bindingmRNA 3'-UTR bindingstructural constituent of ribosomeBlackfan-Diamond anemiaDiamond-Blackfan anemiainherited bone marrow failure syndromeminimally differentiated acute myeloblastic leukemia
✦AI Summary

RPS7 is a structural component of the small ribosomal subunit (40S) essential for ribosome assembly and protein synthesis 1. It functions within the SSU processome during rRNA maturation and ribosome biogenesis in the nucleolus 23. RPS7 undergoes regulatory ubiquitination on free 40S ribosomes; deubiquitinase OTUD6 deubiquitinates RPS7 to facilitate translation initiation and global protein translation in response to cellular stress 4. Beyond its canonical ribosomal role, RPS7 exhibits moonlighting functions as an RNA-binding protein with oncogenic properties. In hepatocellular carcinoma, RPS7 stabilizes LOXL2 mRNA by binding to AU-rich elements in its 3'UTR, activating ITGB1/FAK/SRC signaling to promote metastasis 5. In prostate cancer, RPS7 promotes cell migration by suppressing epithelial-mesenchymal transition markers 6. RPS7 overexpression correlates with poor survival outcomes across multiple malignancies 7. Clinically, RPS7 mutations cause Diamond-Blackfan anemia 8, a ribosomal disease characterized by erythroid aplasia and developmental abnormalities. Notably, RPS7 disruption in mice produces neurological phenotypes distinct from other ribosomal protein mutants, including CNS malformations and memory deficits 8. RPS7 also participates in protein synthesis regulation networks coordinating with translation factors and 14-3-3Ξ³ signaling 9, and its expression is altered in Alzheimer's disease brain capillaries 10.

Sources cited
1
RPS7 is a component of the small ribosomal subunit and ribosome structure
PMID: 23636399
2
RPS7 is required for rRNA maturation
PMID: 19061985
3
RPS7 participates in SSU processome assembly and rRNA processing during ribosome biogenesis
PMID: 34516797
4
OTUD6 deubiquitinates RPS7 on free 40S ribosomes to regulate global protein translation and stress response
PMID: 39127721
5
RPS7 acts as an RNA-binding protein promoting hepatocellular carcinoma metastasis by stabilizing LOXL2 mRNA through 3'UTR binding
PMID: 38326908
6
RPS7 promotes prostate cancer cell migration by suppressing epithelial-mesenchymal transition
PMID: 30737160
7
RPS7 is overexpressed in colorectal cancer and associated with immune evasion and poor prognosis
PMID: 40770837
8
RPS7 mutations cause Diamond-Blackfan anemia and produce neurological phenotypes including CNS malformations and memory deficits
PMID: 23382688
9
RPS7 participates in protein translation regulation networks coordinating with 14-3-3Ξ³ and eIF1AX
PMID: 25281768
10
RPS7 is upregulated in brain capillaries of Alzheimer's disease patients
PMID: 35766008
Disease Associationsβ“˜21
Blackfan-Diamond anemiaOpen Targets
0.79Strong
Diamond-Blackfan anemiaOpen Targets
0.71Strong
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
aniridiaOpen Targets
0.10Suggestive
Becker muscular dystrophyOpen Targets
0.10Suggestive
neoplasmOpen Targets
0.09Suggestive
non-Hodgkins lymphomaOpen Targets
0.09Suggestive
genetic disorderOpen Targets
0.09Suggestive
hepatitis B virus infectionOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
cystinosisOpen Targets
0.07Suggestive
Dravet syndromeOpen Targets
0.07Suggestive
epilepsyOpen Targets
0.07Suggestive
Diamond-Blackfan anemia 8UniProt
Pathogenic Variants12
NM_001011.4(RPS7):c.75+1G>APathogenic
Diamond-Blackfan anemia 8
β˜…β˜…β˜†β˜†2025
NM_001011.4(RPS7):c.65_75+2delinsCTGGPathogenic
Diamond-Blackfan anemia
β˜…β˜†β˜†β˜†2025
NM_001011.4(RPS7):c.75+2T>GLikely pathogenic
Diamond-Blackfan anemia 8
β˜…β˜†β˜†β˜†2025
NM_001011.4(RPS7):c.-19+1G>TPathogenic
Diamond-Blackfan anemia 8
β˜…β˜†β˜†β˜†2025
NM_001011.4(RPS7):c.399G>C (p.Leu133Phe)Likely pathogenic
Diamond-Blackfan anemia 8
β˜…β˜†β˜†β˜†2024β†’ Residue 133
NM_001011.4(RPS7):c.-19+2T>APathogenic
Diamond-Blackfan anemia 8
β˜…β˜†β˜†β˜†2023
NM_001011.4(RPS7):c.75+1G>TLikely pathogenic
Diamond-Blackfan anemia 8
β˜…β˜†β˜†β˜†2023
NM_001011.4(RPS7):c.65_68del (p.Gly22fs)Likely pathogenic
Diamond-Blackfan anemia 8
β˜…β˜†β˜†β˜†2023β†’ Residue 22
NM_001011.4(RPS7):c.-19+1G>ALikely pathogenic
Diamond-Blackfan anemia 8
β˜…β˜†β˜†β˜†2023
NM_001011.4(RPS7):c.508-3T>GLikely pathogenic
Diamond-Blackfan anemia 8
β˜†β˜†β˜†β˜†2019
NM_001011.4(RPS7):c.76-1G>TPathogenic
Diamond-Blackfan anemia 8
β˜†β˜†β˜†β˜†2017
NM_001011.4(RPS7):c.147+1G>APathogenic
Diamond-Blackfan anemia 8
β˜†β˜†β˜†β˜†2013
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%ETF1Protein interaction100%GAGE1Protein interaction100%GAGE2CProtein interaction100%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
66%
Liver
46%
Lung
38%
Brain
28%
Heart
25%
Gene Interaction Network
Click a node to explore
RPS7EEF1B2EEF1DEEF1GETF1GAGE1GAGE2C
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 RPS7 stands among ~20K protein-coding genes
  • #1,154of 20,598
    Most Researched302 Β· top 10%
  • #789of 1,025
    FDA-Approved Drug Targets1
  • #2,644of 5,498
    Most Pathogenic Variants12
  • #1,263of 17,882
    Most Constrained (LOEUF)0.32 Β· top 10%
Genes detectedRPS7
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
RNA-binding protein RPS7 promotes hepatocellular carcinoma progression via LOXL2-dependent activation of ITGB1/FAK/SRC signaling.
PMID: 38326908
J Exp Clin Cancer Res Β· 2024
1.00
2
Upregulation of ribosome complexes at the blood-brain barrier in Alzheimer's disease patients.
PMID: 35766008
J Cereb Blood Flow Metab Β· 2022
0.90
3
OTUD6 deubiquitination of RPS7/eS7 on the free 40 S ribosome regulates global protein translation and stress.
PMID: 39127721
Nat Commun Β· 2024
0.80
4
Mutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypes.
PMID: 23382688
PLoS Genet Β· 2013
0.70
5
Baicalein Inhibits the SMYD2/RPS7 Signaling Pathway to Inhibit the Occurrence and Metastasis of Lung Cancer.
PMID: 35432530
J Oncol Β· 2022
0.60