Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal pro
Gene ontology (GO)Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
Small ribosomal subunit protein uS12 (40S ribosomal protein S23)
Protein function
Component of the ribosome, a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399, PubMed:25901680, PubMed:25957688, PubMed:28257692). The small ribosomal subunit (SSU) binds messenger RNAs (mRNA
Evidence Score:★☆☆☆☆ Gene-disease association found in Text Mining only★★☆☆☆ Found in Text Mining and Unknown/Other Associations★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
CausalDiseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name
Clinical Significance
dbSNP ID
RCV Accession
Evidence Score
Brachycephaly, trichomegaly, and developmental delay
Unknown / Other Associations
ClinVar entries with uncertain/conflicting evidence, and associations from other databases
(OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
["Ribosome","Coronavirus disease - COVID-19","Major pathway of rRNA processing in the nucleolus and cytosol","L13a-mediated translational silencing of Ceruloplasmin expression","Translation initiation complex formation","Formation of a pool of free 40S subunits","Formation of the ternary complex, and subsequently, the 43S complex","Ribosomal scanning and start codon recognition","GTP hydrolysis and joining of the 60S ribosomal subunit","Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)","SRP-dependent cotranslational protein targeting to membrane","Viral mRNA Translation"]
["Ribosome","Coronavirus disease - COVID-19","Major pathway of rRNA processing in the nucleolus and cytosol","L13a-mediated translational silencing of Ceruloplasmin expression","Translation initiation complex formation","Formation of a pool of free 40S subunits","Formation of the ternary complex, and subsequently, the 43S complex","Ribosomal scanning and start codon recognition","GTP hydrolysis and joining of the 60S ribosomal subunit","Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)","SRP-dependent cotranslational protein targeting to membrane","Viral mRNA Translation"]
["Ribosome","Coronavirus disease - COVID-19","Major pathway of rRNA processing in the nucleolus and cytosol","L13a-mediated translational silencing of Ceruloplasmin expression","Translation initiation complex formation","Formation of a pool of free 40S subunits","Formation of the ternary complex, and subsequently, the 43S complex","Ribosomal scanning and start codon recognition","GTP hydrolysis and joining of the 60S ribosomal subunit","Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)","SRP-dependent cotranslational protein targeting to membrane","Viral mRNA Translation"]
["Ribosome","Coronavirus disease - COVID-19","Major pathway of rRNA processing in the nucleolus and cytosol","L13a-mediated translational silencing of Ceruloplasmin expression","Translation initiation complex formation","Formation of a pool of free 40S subunits","Formation of the ternary complex, and subsequently, the 43S complex","Ribosomal scanning and start codon recognition","GTP hydrolysis and joining of the 60S ribosomal subunit","Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)","SRP-dependent cotranslational protein targeting to membrane","Viral mRNA Translation"]
["Ribosome","Coronavirus disease - COVID-19","Major pathway of rRNA processing in the nucleolus and cytosol","L13a-mediated translational silencing of Ceruloplasmin expression","Translation initiation complex formation","Formation of a pool of free 40S subunits","Formation of the ternary complex, and subsequently, the 43S complex","Ribosomal scanning and start codon recognition","GTP hydrolysis and joining of the 60S ribosomal subunit","Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)","SRP-dependent cotranslational protein targeting to membrane","Viral mRNA Translation"]
0
[]
Diseases Linked via Similar GenesDiseases curated for genes most similar to RPS23 (see Related Genes above), that are NOT already directly curated for RPS23 itself -- a lead worth checking, not a confirmed association.