Gene Gene information from NCBI Gene database.
Entrez ID 10884
Gene name Mitochondrial ribosomal protein S30
Gene symbol MRPS30
Synonyms (NCBI Gene)
MRP-S30PAPPDCD9S30mtmL65
Chromosome 5
Chromosome location 5p12
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.
162
miRTarBase ID miRNA Experiments Reference
MIRT002009 mmu-miR-30e-3p Luciferase reporter assay 17726050
MIRT707126 hsa-miR-548n HITS-CLIP 21572407
MIRT549920 hsa-miR-548av-5p HITS-CLIP 21572407
MIRT549919 hsa-miR-548k HITS-CLIP 21572407
MIRT549918 hsa-miR-8054 HITS-CLIP 21572407
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
GO:0003735 Function Structural constituent of ribosome IEA
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA 28892042
GO:0005739 Component Mitochondrion IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611991 8769 ENSG00000112996
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NP92
Protein name Large ribosomal subunit protein mL65 (39S ribosomal protein S30, mitochondrial) (MRP-S30) (S30mt) (Large ribosomal subunit protein mS30) (Programmed cell death protein 9)
PDB 3J7Y , 3J9M , 5OOL , 5OOM , 6I9R , 6NU2 , 6NU3 , 6VLZ , 6VMI , 6ZM5 , 6ZM6 , 6ZS9 , 6ZSA , 6ZSB , 6ZSC , 6ZSD , 6ZSE , 6ZSG , 7A5F , 7A5G , 7A5H , 7A5I , 7A5J , 7A5K , 7L08 , 7L20 , 7O9K , 7O9M , 7ODR , 7ODS , 7ODT , 7OF0 , 7OF2 , 7OF3 , 7OF4 , 7OF5 , 7OF6 , 7OF7 , 7OG4 , 7OI6 , 7OI7 , 7OI8 , 7OI9 , 7OIA , 7OIB , 7OIC , 7OID , 7OIE , 7PD3 , 7PO4 , 7QH6
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07147 PDCD9 1 429 Mitochondrial 28S ribosomal protein S30 (PDCD9) Family
Tissue specificity TISSUE SPECIFICITY: Heart, skeletal muscle, kidney and liver. Lower expression in placenta and peripheral blood leukocytes. {ECO:0000269|PubMed:10640817, ECO:0000269|PubMed:11279123}.
Sequence
Sequence length 439
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)
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Breast Neoplasms Associate 19232126, 20095854, 20699374, 22452962, 24218030, 24388359, 24528085, 27640304, 29351903, 29727689, 33735170
★☆☆☆☆
Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome Associate 29727689
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Associate 35137654, 35191803
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 24388359
★☆☆☆☆
Found in Text Mining only
Pyelonephritis Associate 37581436
★☆☆☆☆
Found in Text Mining only
Triple Negative Breast Neoplasms Associate 35191803
★☆☆☆☆
Found in Text Mining only