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MRPL52 (mitochondrial ribosomal protein L52)

Identity

Other alias-
HGNC (Hugo) MRPL52
LocusID (NCBI) 122704
Atlas_Id 54470
Location 14q11.2  [Link to chromosome band 14q11]
Location_base_pair Starts at 22829883 and ends at 22835037 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
FAM96A (15q22.31) / MRPL52 (14q11.2)MRPL52 (14q11.2) / MOB2 (11p15.5)MRPL52 (14q11.2) / MRPL52 (14q11.2)
MRPL52 (14q11.2) / USP22 (17p11.2)SNRNP70 (19q13.33) / MRPL52 (14q11.2)TXLNA (1p35.1) / MRPL52 (14q11.2)

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)MRPL52   16655
Cards
Entrez_Gene (NCBI)MRPL52  122704  mitochondrial ribosomal protein L52
Aliases
GeneCards (Weizmann)MRPL52
Ensembl hg19 (Hinxton)ENSG00000172590 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000172590 [Gene_View]  chr14:22829883-22835037 [Contig_View]  MRPL52 [Vega]
ICGC DataPortalENSG00000172590
TCGA cBioPortalMRPL52
AceView (NCBI)MRPL52
Genatlas (Paris)MRPL52
WikiGenes122704
SOURCE (Princeton)MRPL52
Genetics Home Reference (NIH)MRPL52
Genomic and cartography
GoldenPath hg38 (UCSC)MRPL52  -     chr14:22829883-22835037 +  14q11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MRPL52  -     14q11.2   [Description]    (hg19-Feb_2009)
EnsemblMRPL52 - 14q11.2 [CytoView hg19]  MRPL52 - 14q11.2 [CytoView hg38]
Mapping of homologs : NCBIMRPL52 [Mapview hg19]  MRPL52 [Mapview hg38]
OMIM611856   
Gene and transcription
Genbank (Entrez)AA282746 AA282747 AI380351 AK000450 AK096946
RefSeq transcript (Entrez)NM_001318870 NM_178336 NM_180982 NM_181304 NM_181305 NM_181306 NM_181307
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MRPL52
Cluster EST : UnigeneHs.355935 [ NCBI ]
CGAP (NCI)Hs.355935
Alternative Splicing GalleryENSG00000172590
Gene ExpressionMRPL52 [ NCBI-GEO ]   MRPL52 [ EBI - ARRAY_EXPRESS ]   MRPL52 [ SEEK ]   MRPL52 [ MEM ]
Gene Expression Viewer (FireBrowse)MRPL52 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)122704
GTEX Portal (Tissue expression)MRPL52
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ86TS9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ86TS9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ86TS9
Splice isoforms : SwissVarQ86TS9
PhosPhoSitePlusQ86TS9
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)MRPL52
DMDM Disease mutations122704
Blocks (Seattle)MRPL52
PDB (SRS)3J7Y   
PDB (PDBSum)3J7Y   
PDB (IMB)3J7Y   
PDB (RSDB)3J7Y   
Structural Biology KnowledgeBase3J7Y   
SCOP (Structural Classification of Proteins)3J7Y   
CATH (Classification of proteins structures)3J7Y   
SuperfamilyQ86TS9
Human Protein AtlasENSG00000172590
Peptide AtlasQ86TS9
HPRD14770
IPIIPI00328616   IPI01025894   IPI00377225   IPI01025162   IPI00550916   IPI01026391   IPI01025759   IPI00377224   IPI01026163   
Protein Interaction databases
DIP (DOE-UCLA)Q86TS9
IntAct (EBI)Q86TS9
FunCoupENSG00000172590
BioGRIDMRPL52
STRING (EMBL)MRPL52
ZODIACMRPL52
Ontologies - Pathways
QuickGOQ86TS9
Ontology : AmiGOstructural constituent of ribosome  mitochondrial inner membrane  mitochondrial large ribosomal subunit  mitochondrial large ribosomal subunit  translation  mitochondrial translational elongation  mitochondrial translational termination  
Ontology : EGO-EBIstructural constituent of ribosome  mitochondrial inner membrane  mitochondrial large ribosomal subunit  mitochondrial large ribosomal subunit  translation  mitochondrial translational elongation  mitochondrial translational termination  
NDEx NetworkMRPL52
Atlas of Cancer Signalling NetworkMRPL52
Wikipedia pathwaysMRPL52
Orthology - Evolution
OrthoDB122704
GeneTree (enSembl)ENSG00000172590
Phylogenetic Trees/Animal Genes : TreeFamMRPL52
HOVERGENQ86TS9
HOGENOMQ86TS9
Homologs : HomoloGeneMRPL52
Homology/Alignments : Family Browser (UCSC)MRPL52
Gene fusions - Rearrangements
Fusion : MitelmanMRPL52/USP22 [14q11.2/17p11.2]  
Fusion Cancer (Beijing)TXLNA [1p35.1]  -  MRPL52 [14q11.2]  [FUSC000766]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMRPL52 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MRPL52
dbVarMRPL52
ClinVarMRPL52
1000_GenomesMRPL52 
Exome Variant ServerMRPL52
ExAC (Exome Aggregation Consortium)MRPL52 (select the gene name)
Genetic variants : HAPMAP122704
Genomic Variants (DGV)MRPL52 [DGVbeta]
DECIPHERMRPL52 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMRPL52 
Mutations
ICGC Data PortalMRPL52 
TCGA Data PortalMRPL52 
Broad Tumor PortalMRPL52
OASIS PortalMRPL52 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMRPL52  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMRPL52
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch MRPL52
DgiDB (Drug Gene Interaction Database)MRPL52
DoCM (Curated mutations)MRPL52 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MRPL52 (select a term)
intoGenMRPL52
Cancer3DMRPL52(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611856   
Orphanet
MedgenMRPL52
Genetic Testing Registry MRPL52
NextProtQ86TS9 [Medical]
TSGene122704
GENETestsMRPL52
Target ValidationMRPL52
Huge Navigator MRPL52 [HugePedia]
snp3D : Map Gene to Disease122704
BioCentury BCIQMRPL52
ClinGenMRPL52
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD122704
Chemical/Pharm GKB GenePA30985
Clinical trialMRPL52
Miscellaneous
canSAR (ICR)MRPL52 (select the gene name)
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMRPL52
EVEXMRPL52
GoPubMedMRPL52
iHOPMRPL52
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:45:22 CEST 2017

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