Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6228
Gene name Gene Name - the full gene name approved by the HGNC.
Ribosomal protein S23
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RPS23
Synonyms (NCBI Gene) Gene synonyms aliases
BTDD, MABAS, MCINS, PAMAS, S23, uS12
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q14.2
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1060505035 A>T Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT049851 hsa-miR-33a-5p CLASH 23622248
MIRT049724 hsa-miR-92a-3p CLASH 23622248
MIRT042095 hsa-miR-484 CLASH 23622248
MIRT035773 hsa-miR-1915-5p CLASH 23622248
MIRT437863 hsa-miR-542-3p U118 24762395
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002181 Process Cytoplasmic translation IC 23636399
GO:0002181 Process Cytoplasmic translation IDA 25957688
GO:0002181 Process Cytoplasmic translation NAS 25901680
GO:0003723 Function RNA binding HDA 22681889
GO:0003735 Function Structural constituent of ribosome HDA 15883184
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603683 10410 ENSG00000186468
Protein
UniProt ID P62266
Protein name 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
PDB 4CXG , 4CXH , 4UG0 , 4V6X , 5A2Q , 5AJ0 , 5FLX , 5LKS , 5OA3 , 5T2C , 5VYC , 6FEC , 6G18 , 6G4S , 6G4W , 6G51 , 6G53 , 6G5H , 6G5I , 6IP5 , 6IP6 , 6IP8 , 6OLE , 6OLF , 6OLG , 6OLI , 6OLZ , 6OM0 , 6OM7 , 6QZP , 6XA1 , 6Y0G , 6Y2L , 6Y57 , 6YBW , 6Z6L , 6Z6M , 6Z6N , 6ZLW , 6ZM7 , 6ZME , 6ZMI , 6ZMO , 6ZMT , 6ZMW , 6ZN5 , 6ZOJ , 6ZOK , 6ZON , 6ZP4 , 6ZUO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00164 Ribosom_S12_S23 29 142 Ribosomal protein S12/S23 Family
Sequence
Sequence length 143
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Ribosome
Coronavirus disease - COVID-19
  L13a-mediated translational silencing of Ceruloplasmin expression
SRP-dependent cotranslational protein targeting to membrane
Viral mRNA Translation
Major pathway of rRNA processing in the nucleolus and cytosol
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) independent of the Exon Junction Complex (EJC)
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
MacInnes syndrome brachycephaly, trichomegaly, and developmental delay rs1060505034, rs1060505035 N/A
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Autistic Disorder Associate 26982655
Carcinoma Hepatocellular Associate 28714366
Colonic Neoplasms Associate 25107436
Congenital Abnormalities Associate 28257692
Diffuse Neurofibrillary Tangles with Calcification Associate 38554950
Endometriosis Associate 11779588
Lung Neoplasms Associate 17420066
Muscle Hypotonia Associate 26982655
Neoplasm Metastasis Associate 28714366
Neoplasms Associate 28714366