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MRPL46 (mitochondrial ribosomal protein L46)

Identity

Alias_namesC15orf4
chromosome 15 open reading frame 4
Alias_symbol (synonym)LIECG2
P2ECSL
Other alias
HGNC (Hugo) MRPL46
LocusID (NCBI) 26589
Atlas_Id 70462
Location 15q25.3  [Link to chromosome band 15q25]
Location_base_pair Starts at 88459478 and ends at 88467402 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
BTBD1 (15q25.2) / MRPL46 (15q25.3)

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)MRPL46   1192
Cards
Entrez_Gene (NCBI)MRPL46  26589  mitochondrial ribosomal protein L46
AliasesC15orf4; LIECG2; P2ECSL
GeneCards (Weizmann)MRPL46
Ensembl hg19 (Hinxton)ENSG00000259494 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000259494 [Gene_View]  chr15:88459478-88467402 [Contig_View]  MRPL46 [Vega]
ICGC DataPortalENSG00000259494
TCGA cBioPortalMRPL46
AceView (NCBI)MRPL46
Genatlas (Paris)MRPL46
WikiGenes26589
SOURCE (Princeton)MRPL46
Genetics Home Reference (NIH)MRPL46
Genomic and cartography
GoldenPath hg38 (UCSC)MRPL46  -     chr15:88459478-88467402 -  15q25.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MRPL46  -     15q25.3   [Description]    (hg19-Feb_2009)
EnsemblMRPL46 - 15q25.3 [CytoView hg19]  MRPL46 - 15q25.3 [CytoView hg38]
Mapping of homologs : NCBIMRPL46 [Mapview hg19]  MRPL46 [Mapview hg38]
OMIM611851   
Gene and transcription
Genbank (Entrez)AF205435 AF210056 AK074053 AK315434 BC017883
RefSeq transcript (Entrez)NM_022163
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MRPL46
Cluster EST : UnigeneHs.534261 [ NCBI ]
CGAP (NCI)Hs.534261
Alternative Splicing GalleryENSG00000259494
Gene ExpressionMRPL46 [ NCBI-GEO ]   MRPL46 [ EBI - ARRAY_EXPRESS ]   MRPL46 [ SEEK ]   MRPL46 [ MEM ]
Gene Expression Viewer (FireBrowse)MRPL46 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)26589
GTEX Portal (Tissue expression)MRPL46
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H2W6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H2W6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H2W6
Splice isoforms : SwissVarQ9H2W6
PhosPhoSitePlusQ9H2W6
Domains : Interpro (EBI)MRP_L46_NUDIX    NUDIX_hydrolase_dom-like    Ribosomal_L46   
Domain families : Pfam (Sanger)MRP-L46 (PF11788)   
Domain families : Pfam (NCBI)pfam11788   
Conserved Domain (NCBI)MRPL46
DMDM Disease mutations26589
Blocks (Seattle)MRPL46
PDB (SRS)3J7Y    3J9M   
PDB (PDBSum)3J7Y    3J9M   
PDB (IMB)3J7Y    3J9M   
PDB (RSDB)3J7Y    3J9M   
Structural Biology KnowledgeBase3J7Y    3J9M   
SCOP (Structural Classification of Proteins)3J7Y    3J9M   
CATH (Classification of proteins structures)3J7Y    3J9M   
SuperfamilyQ9H2W6
Human Protein AtlasENSG00000259494
Peptide AtlasQ9H2W6
HPRD14765
IPIIPI00023161   IPI00383092   IPI00797533   
Protein Interaction databases
DIP (DOE-UCLA)Q9H2W6
IntAct (EBI)Q9H2W6
FunCoupENSG00000259494
BioGRIDMRPL46
STRING (EMBL)MRPL46
ZODIACMRPL46
Ontologies - Pathways
QuickGOQ9H2W6
Ontology : AmiGOmolecular_function  structural constituent of ribosome  cellular_component  nucleoplasm  mitochondrion  mitochondrial inner membrane  mitochondrial large ribosomal subunit  biological_process  hydrolase activity  cell junction  mitochondrial translational elongation  mitochondrial translational termination  
Ontology : EGO-EBImolecular_function  structural constituent of ribosome  cellular_component  nucleoplasm  mitochondrion  mitochondrial inner membrane  mitochondrial large ribosomal subunit  biological_process  hydrolase activity  cell junction  mitochondrial translational elongation  mitochondrial translational termination  
NDEx NetworkMRPL46
Atlas of Cancer Signalling NetworkMRPL46
Wikipedia pathwaysMRPL46
Orthology - Evolution
OrthoDB26589
GeneTree (enSembl)ENSG00000259494
Phylogenetic Trees/Animal Genes : TreeFamMRPL46
HOVERGENQ9H2W6
HOGENOMQ9H2W6
Homologs : HomoloGeneMRPL46
Homology/Alignments : Family Browser (UCSC)MRPL46
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMRPL46 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MRPL46
dbVarMRPL46
ClinVarMRPL46
1000_GenomesMRPL46 
Exome Variant ServerMRPL46
ExAC (Exome Aggregation Consortium)MRPL46 (select the gene name)
Genetic variants : HAPMAP26589
Genomic Variants (DGV)MRPL46 [DGVbeta]
DECIPHERMRPL46 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMRPL46 
Mutations
ICGC Data PortalMRPL46 
TCGA Data PortalMRPL46 
Broad Tumor PortalMRPL46
OASIS PortalMRPL46 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMRPL46  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMRPL46
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 MRPL46
DgiDB (Drug Gene Interaction Database)MRPL46
DoCM (Curated mutations)MRPL46 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MRPL46 (select a term)
intoGenMRPL46
Cancer3DMRPL46(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611851   
Orphanet
MedgenMRPL46
Genetic Testing Registry MRPL46
NextProtQ9H2W6 [Medical]
TSGene26589
GENETestsMRPL46
Target ValidationMRPL46
Huge Navigator MRPL46 [HugePedia]
snp3D : Map Gene to Disease26589
BioCentury BCIQMRPL46
ClinGenMRPL46
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD26589
Chemical/Pharm GKB GenePA30978
Clinical trialMRPL46
Miscellaneous
canSAR (ICR)MRPL46 (select the gene name)
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMRPL46
EVEXMRPL46
GoPubMedMRPL46
iHOPMRPL46
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:31:13 CEST 2017

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