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MRPL30 (mitochondrial ribosomal protein L30)

Identity

Alias_symbol (synonym)MRP-L28
RPML28
Other aliasL28MT
L30MT
MRP-L30
MRPL28
MRPL28M
HGNC (Hugo) MRPL30
LocusID (NCBI) 51263
Atlas_Id 70450
Location 2q11.2  [Link to chromosome band 2q11]
Location_base_pair Starts at 99797542 and ends at 99816020 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
MRPL30 (2q11.2) / CS (12q13.3)MRPL30 (2q11.2) / RPS23 (5q14.2)RPS23 (5q14.2) / MRPL30 (2q11.2)

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)MRPL30   14036
Cards
Entrez_Gene (NCBI)MRPL30  51263  mitochondrial ribosomal protein L30
AliasesL28MT; L30MT; MRP-L28; MRP-L30; 
MRPL28; MRPL28M; RPML28
GeneCards (Weizmann)MRPL30
Ensembl hg19 (Hinxton)ENSG00000241962 [Gene_View]  chr2:99797542-99816020 [Contig_View]  MRPL30 [Vega]
Ensembl hg38 (Hinxton)ENSG00000241962 [Gene_View]  chr2:99797542-99816020 [Contig_View]  MRPL30 [Vega]
ICGC DataPortalENSG00000241962
TCGA cBioPortalMRPL30
AceView (NCBI)MRPL30
Genatlas (Paris)MRPL30
WikiGenes51263
SOURCE (Princeton)MRPL30
Genetics Home Reference (NIH)MRPL30
Genomic and cartography
GoldenPath hg19 (UCSC)MRPL30  -     chr2:99797542-99816020 +  2q11.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MRPL30  -     2q11.2   [Description]    (hg38-Dec_2013)
EnsemblMRPL30 - 2q11.2 [CytoView hg19]  MRPL30 - 2q11.2 [CytoView hg38]
Mapping of homologs : NCBIMRPL30 [Mapview hg19]  MRPL30 [Mapview hg38]
OMIM611838   
Gene and transcription
Genbank (Entrez)AK025547 AK225894 BC000217 BC013822 BC022391
RefSeq transcript (Entrez)NM_016503 NM_145212 NM_145213
RefSeq genomic (Entrez)NC_000002 NC_018913 NT_005403 NW_004929303
Consensus coding sequences : CCDS (NCBI)MRPL30
Cluster EST : UnigeneHs.346736 [ NCBI ]
CGAP (NCI)Hs.346736
Alternative Splicing GalleryENSG00000241962
Gene ExpressionMRPL30 [ NCBI-GEO ]   MRPL30 [ EBI - ARRAY_EXPRESS ]   MRPL30 [ SEEK ]   MRPL30 [ MEM ]
Gene Expression Viewer (FireBrowse)MRPL30 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51263
GTEX Portal (Tissue expression)MRPL30
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TCC3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TCC3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TCC3
Splice isoforms : SwissVarQ8TCC3
PhosPhoSitePlusQ8TCC3
Domains : Interpro (EBI)Ribosomal_L30_ferredoxin-like   
Domain families : Pfam (Sanger)Ribosomal_L30 (PF00327)   
Domain families : Pfam (NCBI)pfam00327   
Conserved Domain (NCBI)MRPL30
DMDM Disease mutations51263
Blocks (Seattle)MRPL30
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   
SuperfamilyQ8TCC3
Human Protein AtlasENSG00000241962
Peptide AtlasQ8TCC3
HPRD14751
IPIIPI00807606   IPI00917535   
Protein Interaction databases
DIP (DOE-UCLA)Q8TCC3
IntAct (EBI)Q8TCC3
FunCoupENSG00000241962
BioGRIDMRPL30
STRING (EMBL)MRPL30
ZODIACMRPL30
Ontologies - Pathways
QuickGOQ8TCC3
Ontology : AmiGOmitochondrial inner membrane  ribosome  organelle organization  mitochondrial translation  mitochondrial translational initiation  mitochondrial translational elongation  mitochondrial translational termination  
Ontology : EGO-EBImitochondrial inner membrane  ribosome  organelle organization  mitochondrial translation  mitochondrial translational initiation  mitochondrial translational elongation  mitochondrial translational termination  
Pathways : KEGGRibosome   
NDEx NetworkMRPL30
Atlas of Cancer Signalling NetworkMRPL30
Wikipedia pathwaysMRPL30
Orthology - Evolution
OrthoDB51263
GeneTree (enSembl)ENSG00000241962
Phylogenetic Trees/Animal Genes : TreeFamMRPL30
HOVERGENQ8TCC3
HOGENOMQ8TCC3
Homologs : HomoloGeneMRPL30
Homology/Alignments : Family Browser (UCSC)MRPL30
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMRPL30 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MRPL30
dbVarMRPL30
ClinVarMRPL30
1000_GenomesMRPL30 
Exome Variant ServerMRPL30
ExAC (Exome Aggregation Consortium)MRPL30 (select the gene name)
Genetic variants : HAPMAP51263
Genomic Variants (DGV)MRPL30 [DGVbeta]
DECIPHER (Syndromes)2:99797542-99816020  ENSG00000241962
CONAN: Copy Number AnalysisMRPL30 
Mutations
ICGC Data PortalMRPL30 
TCGA Data PortalMRPL30 
Broad Tumor PortalMRPL30
OASIS PortalMRPL30 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMRPL30  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMRPL30
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 MRPL30
DgiDB (Drug Gene Interaction Database)MRPL30
DoCM (Curated mutations)MRPL30 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MRPL30 (select a term)
intoGenMRPL30
Cancer3DMRPL30(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611838   
Orphanet
MedgenMRPL30
Genetic Testing Registry MRPL30
NextProtQ8TCC3 [Medical]
TSGene51263
GENETestsMRPL30
Huge Navigator MRPL30 [HugePedia]
snp3D : Map Gene to Disease51263
BioCentury BCIQMRPL30
ClinGenMRPL30
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51263
Chemical/Pharm GKB GenePA30961
Clinical trialMRPL30
Miscellaneous
canSAR (ICR)MRPL30 (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMRPL30
EVEXMRPL30
GoPubMedMRPL30
iHOPMRPL30
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:33:42 CET 2017

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