MRPS22 (mitochondrial ribosomal protein S22)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 56945
Gene name Mitochondrial ribosomal protein S22
Gene symbol MRPS22
Synonyms (NCBI Gene)
C3orf5COXPD5GIBTGK002MRP-S22ODG7RPMS22mS22
Chromosome 3
Chromosome location 3q23
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
SNPs SNP information provided by dbSNP.
9
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (9)
SNP ID Visualize variation Clinical significance Consequence
rs76148008 C>T Uncertain-significance, conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs119478059 G>A Pathogenic Missense variant, coding sequence variant
rs201337850 T>G Pathogenic Coding sequence variant, stop gained
rs387906924 T>C Pathogenic Missense variant, coding sequence variant
rs544369132 C>T Likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
miRTarBase ID miRNA Experiments Reference
MIRT030608 hsa-miR-24-3p Microarray 19748357
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (15)
GO ID Ontology Definition Evidence Reference
GO:0003735 Function Structural constituent of ribosome IBA
GO:0003735 Function Structural constituent of ribosome IDA 10938081
GO:0005515 Function Protein binding IPI 30021884, 33961781
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
605810 14508 ENSG00000175110
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P82650
Protein name Small ribosomal subunit protein mS22 (28S ribosomal protein S22, mitochondrial) (MRP-S22) (S22mt)
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
PF10245 MRP-S22 68 → 309 Mitochondrial 28S ribosomal protein S22 Family
Sequence
Sequence length 360
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Mitochondrial translation elongation
Mitochondrial translation termination
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
73
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
46 XX gonadal dysgenesis Pathogenic rs775354826 RCV005356003
Hypotonia with lactic acidemia and hyperammonemia Pathogenic; Likely pathogenic rs775852045, rs771036052, rs119478059, rs2472854593, rs1322144248, rs387906924, rs775354826 RCV001336482
RCV002470482
RCV000005019
RCV003154615
RCV003486536
RCV000023481
RCV005863170
Ovarian dysgenesis 7 Likely pathogenic; Pathogenic rs119478059 RCV002496263
Show/Hide Unknown Diseases (9)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Combined oxidative phosphorylation deficiency Conflicting classifications of pathogenicity; Uncertain significance rs372892045, rs773240427, rs762299963 RCV000350316
RCV000261452
RCV000295515
Gastric cancer Conflicting classifications of pathogenicity rs544369132 RCV005893523
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Uncertain significance rs948280864 RCV000714744
Malignant lymphoma, large B-cell, diffuse Benign rs10755092 RCV005915112
Show/Hide Text Mining Associations (13)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 24299561
Brain Diseases Associate 21189481
Breast Neoplasms Associate 23172368
Carcinoma Non Small Cell Lung Associate 24299561
Carcinoma Squamous Cell Associate 24299561
Cardiomyopathies Associate 17873122
Cardiomyopathy Hypertrophic Associate 21189481
De Lange Syndrome Associate 21189481
Huntington Disease Associate 38447791
Mitochondrial Diseases Associate 17873122