Gene Gene information from NCBI Gene database.
Entrez ID 64968
Gene name Mitochondrial ribosomal protein S6
Gene symbol MRPS6
Synonyms (NCBI Gene)
C21orf101MRP-S6RPMS6S6mtbS6m
Chromosome 21
Chromosome location 21q22.11
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.
93
miRTarBase ID miRNA Experiments Reference
MIRT050858 hsa-miR-17-5p CLASH 23622248
MIRT1160477 hsa-miR-1237 CLIP-seq
MIRT1160478 hsa-miR-1248 CLIP-seq
MIRT1160479 hsa-miR-142-5p CLIP-seq
MIRT1160480 hsa-miR-1915 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
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:0003735 Function Structural constituent of ribosome NAS 11279123
GO:0005515 Function Protein binding IPI 22458338, 25416956, 32296183, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611973 14051 ENSG00000243927
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P82932
Protein name Small ribosomal subunit protein bS6m (28S ribosomal protein S6, mitochondrial) (MRP-S6) (S6mt)
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
PF01250 Ribosomal_S6 3 95 Ribosomal protein S6 Domain
Sequence
Sequence length 125
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.).
16
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)
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
CARDIOVASCULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER GWAS catalog
★★☆☆☆
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
Breast Neoplasms Breast neoplasm Pubtator 35739158 Associate
★☆☆☆☆
Found in Text Mining only
Coronary Arteriosclerosis Coronary Arteriosclerosis CTD_human_DG 21378990
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease Coronary artery disease CTD_human_DG 21378990
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases Mitochondrial disease Pubtator 17193926 Associate
★☆☆☆☆
Found in Text Mining only
Myocardial Infarction Myocardial Infarction BEFREE 25697262
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Myocardial Infarction Myocardial infarction Pubtator 25697262 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Pancreatic Neoplasms Pancreatic neoplasm Pubtator 30972876 Associate
★☆☆☆☆
Found in Text Mining only
Parkinson Disease Parkinson disease Pubtator 17193926 Associate
★☆☆☆☆
Found in Text Mining only