Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6201
Gene name Gene Name - the full gene name approved by the HGNC.
Ribosomal protein S7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RPS7
Synonyms (NCBI Gene) Gene synonyms aliases
DBA8, S7, eS7
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p25.3
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
rs397507554 G>A Pathogenic Splice donor variant
rs1057519624 G>T Pathogenic Splice acceptor variant
rs1572360944 T>G Likely-pathogenic Intron variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT000168 hsa-miR-21-5p qRT-PCR, Quantitative proteomic approach 19253296
MIRT000168 hsa-miR-21-5p Microarray 20371350
MIRT000168 hsa-miR-21-5p Microarray 17968323
MIRT000168 hsa-miR-21-5p Microarray 17991735
MIRT000168 hsa-miR-21-5p Microarray 19682430
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001843 Process Neural tube closure IEA
GO:0002181 Process Cytoplasmic translation IC 23636399
GO:0002181 Process Cytoplasmic translation NAS 25901680
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding NAS 8522193
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603658 10440 ENSG00000171863
Protein
UniProt ID P62081
Protein name Small ribosomal subunit protein eS7 (40S ribosomal protein S7)
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 rRNA maturation (PubMed:19061985). Part of the sm
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 , 6YBD , 6YBW , 6Z6L , 6Z6M , 6Z6N , 6ZLW , 6ZM7 , 6ZME , 6ZMI , 6ZMO , 6ZMT , 6ZMW , 6ZN5 , 6ZOJ , 6ZOK , 6ZON , 6ZP4 , 6ZUO , 6ZV6
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01251 Ribosomal_S7e 7 191 Ribosomal protein S7e Family
Sequence
Sequence length 194
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
Diamond-Blackfan anemia diamond-blackfan anemia 8 rs397507554, rs1057519624, rs1572360944 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Coronary artery disease Coronary artery disease N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acute Kidney Injury Associate 36277893
Alzheimer Disease Associate 35766008
Anemia Diamond Blackfan Associate 19061985, 20116044, 22262766, 22431104, 25946618, 40029997
Bone Marrow Failure Disorders Associate 32054657
Carcinoma Hepatocellular Associate 32627011
COVID 19 Associate 35558576
Lupus Erythematosus Systemic Associate 35558576
Neoplasms Associate 23671674