Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51116
Gene name Gene Name - the full gene name approved by the HGNC.
Mitochondrial ribosomal protein S2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MRPS2
Synonyms (NCBI Gene) Gene synonyms aliases
CGI-91, COXPD36, MRP-S2, S2mt, uS2m
Disease Acronyms (UniProt) Disease acronyms from UniProt database
COXPD36
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q34.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003735 Function Structural constituent of ribosome IBA 21873635
GO:0003735 Function Structural constituent of ribosome ISS 11402041
GO:0005739 Component Mitochondrion IDA
GO:0005743 Component Mitochondrial inner membrane TAS
GO:0005763 Component Mitochondrial small ribosomal subunit IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611971 14495 ENSG00000122140
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Combined oxidative phosphorylation deficiency COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36 rs587776508, rs576462794, rs118203917, rs387906327, rs139430866, rs387906962, rs138119149, rs387907061, rs1562800908, rs397515421, rs397514598, rs397514610, rs397514611, rs397514612, rs201431517
View all (155 more)
29576219
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Hearing loss Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Associations from Text Mining
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