Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6182
Gene name Gene Name - the full gene name approved by the HGNC.
Mitochondrial ribosomal protein L12
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MRPL12
Synonyms (NCBI Gene) Gene synonyms aliases
5c5-2, L12mt, MRP-L31/34, MRPL7, MRPL7/L12, RPML12, bL12m
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q25.3
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
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding TAS 8626705
GO:0003735 Function Structural constituent of ribosome IEA
GO:0005515 Function Protein binding IPI 17337445, 19103604, 22003127, 28514442, 32296183
GO:0005739 Component Mitochondrion IDA 17337445
GO:0005743 Component Mitochondrial inner membrane TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602375 10378 ENSG00000262814
Protein
UniProt ID 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.
  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
Diabetes mellitus Diabetes Mellitus, Non-Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
28736931
Lung adenocarcinoma Adenocarcinoma of lung (disorder) rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370
View all (5 more)
27602772
Unknown
Disease term Disease name Evidence References Source
Combined Oxidative Phosphorylation Deficiency combined oxidative phosphorylation deficiency 45 GenCC
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Stimulate 36769082
Adenocarcinoma of Lung Associate 38015097
Diabetic Nephropathies Associate 37526061
Growth Disorders Associate 23603806
Mitochondrial Diseases Associate 23603806, 37526061
Neoplasms Associate 36769082
Nervous System Diseases Associate 23603806
Primary Ovarian Insufficiency Associate 39379953