Gene Gene information from NCBI Gene database.
Entrez ID 51116
Gene name Mitochondrial ribosomal protein S2
Gene symbol MRPS2
Synonyms (NCBI Gene)
CGI-91COXPD36MRP-S2S2mtuS2m
Chromosome 9
Chromosome location 9q34.3
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.
326
miRTarBase ID miRNA Experiments Reference
MIRT027648 hsa-miR-98-5p Microarray 19088304
MIRT029413 hsa-miR-26b-5p Microarray 19088304
MIRT031702 hsa-miR-16-5p Proteomics 18668040
MIRT052610 hsa-let-7a-5p CLASH 23622248
MIRT051703 hsa-let-7e-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0003735 Function Structural constituent of ribosome IBA
GO:0003735 Function Structural constituent of ribosome IEA
GO:0003735 Function Structural constituent of ribosome ISS 11402041
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611971 14495 ENSG00000122140
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y399
Protein name Small ribosomal subunit protein uS2m (28S ribosomal protein S2, mitochondrial) (MRP-S2) (S2mt)
Protein function Required for mitoribosome formation and stability, and mitochondrial translation.
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
PF00318 Ribosomal_S2 84 186 Ribosomal protein S2 Family
PF00318 Ribosomal_S2 183 260 Ribosomal protein S2 Family
Sequence
MATSSAALPRILGAGARAPSRWLGFLGKATPRPARPSRRTLGSATALMIRESEDSTDFND
KILNEPLKHSDFFNVKELFSVRSLFDARVHLGHKAGCRHRFMEPYIFGSRLDHDIIDLEQ
TATHLQLALNFTAHMAYRKGIILFISRNRQFSYLIENMARDCGEYAHTRYFRGGMLTNAR
LL
FGPTVRLPDLIIFLHTLNNIFEPHVAVRDAAKMNIPTVGIVDTNCNPCLITYPVPGND
DSPLAVHLYCRLFQTAITRA
KEKRQQVEALYRLQGQKEPGDQGPAHPPGADMSHSL
Sequence length 296
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Ribosome   Mitochondrial translation elongation
Mitochondrial translation termination
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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 36 Likely pathogenic; Pathogenic rs1028488967, rs754750531, rs761334309 RCV003123499
RCV003232055
RCV000626471
★★★★☆
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
MRPS2-related disorder Conflicting classifications of pathogenicity; 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 34991560 Associate
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism Pubtator 38029925 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 23569218 Associate
★☆☆☆☆
Found in Text Mining only
Combined Oxidative Phosphorylation Deficiency 1 Combined oxidative phosphorylation deficiency Pubtator 38029925 Associate
★☆☆☆☆
Found in Text Mining only
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36 Combined Oxidative Phosphorylation Deficiency GENOMICS_ENGLAND_DG 29576219
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36 Combined Oxidative Phosphorylation Deficiency UNIPROT_DG 29576219
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36 Combined Oxidative Phosphorylation Deficiency CLINVAR_DG 29576219
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental Disabilities Developmental disability Pubtator 38029925 Associate
★☆☆☆☆
Found in Text Mining only
Gallbladder Neoplasms Gallbladder neoplasm Pubtator 34991560 Associate
★☆☆☆☆
Found in Text Mining only
Global developmental delay Developmental Delay HPO_DG
★☆☆☆☆
Found in Text Mining only