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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
27
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Combined oxidative phosphorylation deficiency 36 Likely pathogenic; Pathogenic rs1028488967, rs754750531, rs761334309 RCV003123499
RCV003232055
RCV000626471
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
MRPS2-related disorder Conflicting classifications of pathogenicity; Benign; Likely benign rs138712673, rs192357856, rs140165953, rs146754926, rs35293407, rs199707811, rs541444392, rs200709806, rs767971399, rs367848572, rs375714164, rs377751899, rs772577776, rs770947574, rs373408410 RCV003931171
RCV003951048
RCV003923665
RCV003933461
RCV003963393
RCV003916640
RCV003906668
RCV003929215
RCV003904722
RCV003959786
RCV003969859
RCV003929513
RCV003934710
RCV003971366
RCV003942180
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acidosis Lactic Associate 34991560
Adenocarcinoma Follicular Associate 23569218
Autistic Disorder Associate 38029925
Carcinogenesis Associate 23569218
Combined Oxidative Phosphorylation Deficiency 1 Associate 38029925
CoQ responsive OXPHOS deficiency Associate 29576219
Developmental Disabilities Associate 38029925
Gallbladder Neoplasms Associate 34991560
Hearing Loss Sensorineural Associate 29576219, 34991560, 38029925
Hypoglycemia Associate 29576219, 34991560, 38029925