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MRPL12 (mitochondrial ribosomal protein L12)

Identity

Alias_namesRPML12
Alias_symbol (synonym)MRPL7/L12
MRPL7
Other alias5c5-2
L12mt
MRP-L31/34
HGNC (Hugo) MRPL12
LocusID (NCBI) 6182
Atlas_Id 70434
Location 17q25.3  [Link to chromosome band 17q25]
Location_base_pair Starts at 81703370 and ends at 81707526 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
MRPL12 (17q25.3) / MRPL12 (17q25.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)MRPL12   10378
Cards
Entrez_Gene (NCBI)MRPL12  6182  mitochondrial ribosomal protein L12
Aliases5c5-2; L12mt; MRP-L31/34; MRPL7; 
MRPL7/L12; RPML12
GeneCards (Weizmann)MRPL12
Ensembl hg19 (Hinxton)ENSG00000262814 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000262814 [Gene_View]  chr17:81703370-81707526 [Contig_View]  MRPL12 [Vega]
ICGC DataPortalENSG00000262814
TCGA cBioPortalMRPL12
AceView (NCBI)MRPL12
Genatlas (Paris)MRPL12
WikiGenes6182
SOURCE (Princeton)MRPL12
Genetics Home Reference (NIH)MRPL12
Genomic and cartography
GoldenPath hg38 (UCSC)MRPL12  -     chr17:81703370-81707526 +  17q25.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MRPL12  -     17q25.3   [Description]    (hg19-Feb_2009)
EnsemblMRPL12 - 17q25.3 [CytoView hg19]  MRPL12 - 17q25.3 [CytoView hg38]
Mapping of homologs : NCBIMRPL12 [Mapview hg19]  MRPL12 [Mapview hg38]
OMIM602375   
Gene and transcription
Genbank (Entrez)AF105278 BC002344 BC007497 CA310089 DA648796
RefSeq transcript (Entrez)NM_002949
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MRPL12
Cluster EST : UnigeneHs.109059 [ NCBI ]
CGAP (NCI)Hs.109059
Alternative Splicing GalleryENSG00000262814
Gene ExpressionMRPL12 [ NCBI-GEO ]   MRPL12 [ EBI - ARRAY_EXPRESS ]   MRPL12 [ SEEK ]   MRPL12 [ MEM ]
Gene Expression Viewer (FireBrowse)MRPL12 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6182
GTEX Portal (Tissue expression)MRPL12
Human Protein AtlasENSG00000262814-MRPL12 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP52815   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP52815  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP52815
Splice isoforms : SwissVarP52815
PhosPhoSitePlusP52815
Domains : Interpro (EBI)Ribosomal_L7/12    Ribosomal_L7/12_C/ClpS-like    Ribosomal_L7/L12_C    Ribosomal_L7/L12_oligo   
Domain families : Pfam (Sanger)Ribosomal_L12 (PF00542)    Ribosomal_L12_N (PF16320)   
Domain families : Pfam (NCBI)pfam00542    pfam16320   
Domain structure : Prodom (Prabi Lyon)Ribosomal_L7/L12_C (PD001326)   
Conserved Domain (NCBI)MRPL12
DMDM Disease mutations6182
Blocks (Seattle)MRPL12
SuperfamilyP52815
Human Protein Atlas [tissue]ENSG00000262814-MRPL12 [tissue]
Peptide AtlasP52815
HPRD03849
IPIIPI01015060   
Protein Interaction databases
DIP (DOE-UCLA)P52815
IntAct (EBI)P52815
FunCoupENSG00000262814
BioGRIDMRPL12
STRING (EMBL)MRPL12
ZODIACMRPL12
Ontologies - Pathways
QuickGOP52815
Ontology : AmiGORNA binding  structural constituent of ribosome  protein binding  mitochondrion  mitochondrial inner membrane  mitochondrial large ribosomal subunit  transcription from mitochondrial promoter  positive regulation of transcription, DNA-templated  mitochondrial translational elongation  mitochondrial translational termination  
Ontology : EGO-EBIRNA binding  structural constituent of ribosome  protein binding  mitochondrion  mitochondrial inner membrane  mitochondrial large ribosomal subunit  transcription from mitochondrial promoter  positive regulation of transcription, DNA-templated  mitochondrial translational elongation  mitochondrial translational termination  
Pathways : KEGGRibosome   
NDEx NetworkMRPL12
Atlas of Cancer Signalling NetworkMRPL12
Wikipedia pathwaysMRPL12
Orthology - Evolution
OrthoDB6182
GeneTree (enSembl)ENSG00000262814
Phylogenetic Trees/Animal Genes : TreeFamMRPL12
HOVERGENP52815
HOGENOMP52815
Homologs : HomoloGeneMRPL12
Homology/Alignments : Family Browser (UCSC)MRPL12
Gene fusions - Rearrangements
Fusion: Tumor Portal MRPL12
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMRPL12 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MRPL12
dbVarMRPL12
ClinVarMRPL12
1000_GenomesMRPL12 
Exome Variant ServerMRPL12
ExAC (Exome Aggregation Consortium)ENSG00000262814
GNOMAD BrowserENSG00000262814
Genetic variants : HAPMAP6182
Genomic Variants (DGV)MRPL12 [DGVbeta]
DECIPHERMRPL12 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMRPL12 
Mutations
ICGC Data PortalMRPL12 
TCGA Data PortalMRPL12 
Broad Tumor PortalMRPL12
OASIS PortalMRPL12 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMRPL12  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMRPL12
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch MRPL12
DgiDB (Drug Gene Interaction Database)MRPL12
DoCM (Curated mutations)MRPL12 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MRPL12 (select a term)
intoGenMRPL12
Cancer3DMRPL12(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602375   
Orphanet
MedgenMRPL12
Genetic Testing Registry MRPL12
NextProtP52815 [Medical]
TSGene6182
GENETestsMRPL12
Target ValidationMRPL12
Huge Navigator MRPL12 [HugePedia]
snp3D : Map Gene to Disease6182
BioCentury BCIQMRPL12
ClinGenMRPL12
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6182
Chemical/Pharm GKB GenePA30941
Clinical trialMRPL12
Miscellaneous
canSAR (ICR)MRPL12 (select the gene name)
Probes
Litterature
PubMed34 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMRPL12
EVEXMRPL12
GoPubMedMRPL12
iHOPMRPL12
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Nov 9 12:17:46 CET 2017

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