MRPL12 (mitochondrial ribosomal protein L12)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 6182
Gene name Mitochondrial ribosomal protein L12
Gene symbol MRPL12
Synonyms (NCBI Gene)
5c5-2L12mtMRP-L31/34MRPL7MRPL7/L12RPML12bL12m
Chromosome 17
Chromosome location 17q25.3
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.
351
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (351)
miRTarBase ID miRNA Experiments Reference
MIRT027400 hsa-miR-98-5p Microarray 19088304
MIRT031389 hsa-miR-16-5p Proteomics 18668040
MIRT048289 hsa-miR-107 CLASH 23622248
MIRT043855 hsa-miR-340-3p CLASH 23622248
MIRT042624 hsa-miR-423-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (26)
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding TAS 8626705
GO:0003729 Function MRNA binding IBA
GO:0003735 Function Structural constituent of ribosome IBA
GO:0003735 Function Structural constituent of ribosome IEA
GO:0003735 Function Structural constituent of ribosome TAS 9169145
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
602375 10378 ENSG00000262814
Protein Protein information from UniProt database.
Gene 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.
P52815
Protein name Large ribosomal subunit protein bL12m (39S ribosomal protein L12, mitochondrial) (L12mt) (MRP-L12) (5c5-2) [Cleaved into: Large ribosomal subunit protein bL12m, long mature form; Large ribosomal subunit protein bL12m, short mature form]
Protein function As a component of the mitochondrial large ribosomal subunit, plays a role in mitochondrial translation (PubMed:23603806). When present in mitochondria as a free protein not associated with the ribosome, associates with mitochondrial RNA polymera
PDB 6VLZ , 6VMI , 6ZM5 , 6ZM6 , 6ZS9 , 6ZSA , 6ZSB , 6ZSC , 6ZSD , 6ZSE , 6ZSG , 7L08 , 7L20 , 7O9K , 7O9M , 7OG4 , 7PO2 , 7PO4 , 7QI4 , 7QI5 , 7QI6 , 8ANY , 8OIR , 8OIT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16320 Ribosomal_L12_N 63 → 116 Ribosomal protein L7/L12 dimerisation domain Domain
PF00542 Ribosomal_L12 130 → 198 Ribosomal protein L7/L12 C-terminal domain Domain
Sequence
Sequence length 198
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  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.).
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Combined oxidative phosphorylation deficiency 45 Pathogenic rs577290119 RCV001250724
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (15)
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
Acute myeloid leukemia Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEARING LOSS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (6)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma CTD_human_DG 27602772
★★★★★
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus GWASCAT_DG 28736931
★★★★★
★☆☆☆☆
Found in Text Mining only
Diabetic Nephropathies Diabetic neuropathy Pubtator 37526061 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Growth Disorders Growth disorder Pubtator 23603806 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Mitochondrial Diseases Mitochondrial disease Pubtator 23603806, 37526061 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Nervous System Diseases Nervous system disease Pubtator 23603806 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only