Gene Gene information from NCBI Gene database.
Entrez ID 6229
Gene name Ribosomal protein S24
Gene symbol RPS24
Synonyms (NCBI Gene)
DBA3S24eS24
Chromosome 10
Chromosome location 10q22.3
Summary 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.
6
SNP ID Visualize variation Clinical significance Consequence
rs104894188 C>T Pathogenic Stop gained, coding sequence variant
rs104894189 C>T Pathogenic Stop gained, coding sequence variant
rs116840806 AAC>TACGGATAG Pathogenic Inframe indel, stop gained, coding sequence variant
rs886039545 A>G Pathogenic Missense variant, initiator codon variant
rs1554841994 A>C Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
268
miRTarBase ID miRNA Experiments Reference
MIRT052586 hsa-let-7a-5p CLASH 23622248
MIRT052586 hsa-let-7a-5p CLASH 23622248
MIRT052260 hsa-let-7b-5p CLASH 23622248
MIRT052260 hsa-let-7b-5p CLASH 23622248
MIRT051855 hsa-let-7c-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
GO ID Ontology Definition Evidence Reference
GO:0002181 Process Cytoplasmic translation IC 23636399
GO:0002181 Process Cytoplasmic translation NAS 25901680
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003735 Function Structural constituent of ribosome HDA 15883184
GO:0003735 Function Structural constituent of ribosome IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602412 10411 ENSG00000138326
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P62847
Protein name Small ribosomal subunit protein eS24 (40S ribosomal protein S24)
Protein function Component of the small ribosomal subunit (PubMed:23636399). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399). Required for processing of pre-rRNA and maturation of 40S ribo
PDB 4UG0 , 4V6X , 5A2Q , 5AJ0 , 5FLX , 5LKS , 5OA3 , 5T2C , 5VYC , 6FEC , 6G18 , 6G4S , 6G4W , 6G51 , 6G53 , 6G5H , 6G5I , 6IP5 , 6IP6 , 6IP8 , 6MTD , 6MTE , 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
PF01282 Ribosomal_S24e 24 102 Ribosomal protein S24e Family
Tissue specificity TISSUE SPECIFICITY: Mature tissues, such as adult brain, skeletal muscle, heart, and kidney, express low levels, whereas tissues and organs with significant populations of proliferating cells, such as fetal brain, placenta, bone marrow, and various glandu
Sequence
MNDTVTIRTRKFMTNRLLQRKQMVIDVLHPGKATVPKTEIREKLAKMYKTTPDVIFVFGF
RTHFGGGKTTGFGMIYDSLDYAKKNEPKHRLARHGLYEKKKT
SRKQRKERKNRMKKVRGT
AKANVGAGKKPKE
Sequence length 133
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)
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
194
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormality of blood and blood-forming tissues Likely pathogenic rs2131976201 RCV001814508
Diamond-Blackfan anemia Pathogenic; Likely pathogenic rs2493280473, rs2493281976, rs2493274026, rs104894189, rs886039545, rs2493287899, rs1589326484 RCV002364567
RCV002441408
RCV002435644
RCV000638824
RCV000551919
RCV003507638
RCV000820617
Diamond-Blackfan anemia 3 Likely pathogenic; Pathogenic rs2131976643, rs104894188, rs104894189, rs116840806, rs2493281886, rs1554841994 RCV001507086
RCV000007667
RCV000007668
RCV000007669
RCV003232044
RCV000664315
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs7899453 RCV005891883
Clear cell carcinoma of kidney Likely benign rs372414860 RCV005931603
Colon adenocarcinoma Benign rs7899453 RCV005891882
Familial cancer of breast Benign rs748025816 RCV005916595
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 35766008
Anemia Diamond Blackfan Associate 17186470, 18535205, 19689926, 19765279, 19773262, 20116044, 22262766, 23812780, 24675553, 25946618, 31109297
Autism Spectrum Disorder Associate 25601189
Carcinoma Hepatocellular Associate 36614249
Congenital Hereditary and Neonatal Diseases and Abnormalities Associate 19773262
Hypoxia Associate 31911497
Hypoxia Brain Associate 38281767
Intervertebral Disc Degeneration Associate 31124977
Neoplasms Associate 36614249, 38281767
Osteoarthritis Associate 29344651