Gene Gene information from NCBI Gene database.
Entrez ID 6234
Gene name Ribosomal protein S28
Gene symbol RPS28
Synonyms (NCBI Gene)
DBA15S28eS28
Chromosome 19
Chromosome location 19p13.2
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
miRNA miRNA information provided by mirtarbase database.
94
miRTarBase ID miRNA Experiments Reference
MIRT050253 hsa-miR-25-3p CLASH 23622248
MIRT049327 hsa-miR-92a-3p CLASH 23622248
MIRT046092 hsa-miR-125b-5p CLASH 23622248
MIRT040626 hsa-miR-92b-3p CLASH 23622248
MIRT039341 hsa-miR-425-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
41
GO ID Ontology Definition Evidence Reference
GO:0000028 Process Ribosomal small subunit assembly IBA
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 22658674, 22681889
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603685 10418 ENSG00000233927
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P62857
Protein name Small ribosomal subunit protein eS28 (40S ribosomal protein S28)
Protein function Component of the small ribosomal subunit (PubMed:23636399, PubMed:25901680, PubMed:25957688). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399, PubMed:25901680, PubMed:25957
PDB 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 , 6YBS , 6Z6L , 6Z6M , 6Z6N , 6ZLW , 6ZM7 , 6ZME , 6ZMI , 6ZMO , 6ZMT , 6ZMW , 6ZN5 , 6ZOJ , 6ZOL , 6ZON , 6ZP4 , 6ZUO , 6ZV6 , 6ZVH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01200 Ribosomal_S28e 7 68 Ribosomal protein S28e Family
Sequence
Sequence length 69
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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis Pathogenic rs786203997 RCV000167573
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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.
Phenotype Name Clinical Significance Source Evidence Score
ANEMIA, DIAMOND-BLACKFAN Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIAMOND-BLACKFAN ANEMIA GWAS catalog, Orphanet
GWAS catalog, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RPS28-related disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Aase Smith syndrome 2 Aase-Smith syndrome ORPHANET_DG 24942156
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia HPO_DG
★☆☆☆☆
Found in Text Mining only
Agranulocytosis Agranulocytosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Anemia, Diamond-Blackfan Anemia ORPHANET_DG 24942156
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Anemia, Diamond-Blackfan Anemia GENOMICS_ENGLAND_DG 28297620
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Anemia, Macrocytic Anemia HPO_DG
★☆☆☆☆
Found in Text Mining only
Blackfan-Diamond anemia Blackfan-Diamond Anemia Orphanet
★☆☆☆☆
Found in Text Mining only
Bone Marrow failure syndromes Bone marrow failure syndrome BEFREE 29954325
★☆☆☆☆
Found in Text Mining only
Cerebral Infarction Ischemic stroke Pubtator 39290696 Associate
★☆☆☆☆
Found in Text Mining only
Congenital diaphragmatic hernia Congenital diaphragmatic hernia HPO_DG
★☆☆☆☆
Found in Text Mining only