Gene Gene information from NCBI Gene database.
Entrez ID 51649
Gene name Mitochondrial ribosomal protein S23
Gene symbol MRPS23
Synonyms (NCBI Gene)
CGI-138COXPD46HSPC329MRP-S23mS23
Chromosome 17
Chromosome location 17q22
Summary Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% prot
miRNA miRNA information provided by mirtarbase database.
165
miRTarBase ID miRNA Experiments Reference
MIRT031963 hsa-miR-16-5p Proteomics 18668040
MIRT047269 hsa-miR-181b-5p CLASH 23622248
MIRT041099 hsa-miR-503-5p CLASH 23622248
MIRT040709 hsa-miR-92b-3p CLASH 23622248
MIRT473005 hsa-miR-5586-3p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003735 Function Structural constituent of ribosome IEA
GO:0005515 Function Protein binding IPI 24965446, 25416956, 32296183
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611985 14509 ENSG00000181610
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y3D9
Protein name Small ribosomal subunit protein mS23 (28S ribosomal protein S23, mitochondrial) (MRP-S23) (S23mt)
PDB 3J9M , 6NU2 , 6NU3 , 6RW4 , 6RW5 , 6VLZ , 6VMI , 6ZM5 , 6ZM6 , 6ZS9 , 6ZSA , 6ZSB , 6ZSC , 6ZSD , 6ZSE , 6ZSG , 7A5F , 7A5G , 7A5I , 7A5K , 7L08 , 7OG4 , 7P2E , 7PNX , 7PNY , 7PNZ , 7PO0 , 7PO1 , 7PO2 , 7PO3 , 7QI4 , 7QI5 , 7QI6 , 8ANY , 8CSP , 8CSQ , 8CSR , 8CSS , 8CST , 8CSU , 8K2A , 8OIR , 8OIS , 8QRK , 8QRL , 8QRM , 8QRN , 8RRI , 8XT0 , 8XT2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10484 MRP-S23 2 130 Mitochondrial ribosomal protein S23 Family
Sequence
Sequence length 190
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Mitochondrial translation elongation
Mitochondrial translation termination
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
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
Combined oxidative phosphorylation deficiency 46 Pathogenic rs772721937 RCV001250729
★★★★☆
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
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANTIPHOSPHOLIPID SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign; 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
Acidosis Lactic Lactic acidosis Pubtator 38086984 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma CTD_human_DG 25151356
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 29069745
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 25151356, 31950385 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 28714366 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 32828126 Associate
★☆☆☆☆
Found in Text Mining only
Hearing Loss Hearing loss Pubtator 38086984 Associate
★☆☆☆☆
Found in Text Mining only
Hypoglycemia Hypoglycemia Pubtator 38086984 Associate
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 28714366
★☆☆☆☆
Found in Text Mining only
Liver Failure Liver failure Pubtator 38086984 Associate
★☆☆☆☆
Found in Text Mining only