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EARS2 (glutamyl-tRNA synthetase 2, mitochondrial)

Identity

Alias_namesglutamyl-tRNA synthetase 2, mitochondrial (putative)
Alias_symbol (synonym)KIAA1970
MSE1
Other aliasCOXPD12
gluRS
HGNC (Hugo) EARS2
LocusID (NCBI) 124454
Atlas_Id 62704
Location 16p12.2  [Link to chromosome band 16p12]
Location_base_pair Starts at 23522013 and ends at 23557375 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
EARS2 (16p12.2) / VMP1 (17q23.1)HMGB2 (4q34.1) / EARS2 (16p12.2)

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)EARS2   29419
Cards
Entrez_Gene (NCBI)EARS2  124454  glutamyl-tRNA synthetase 2, mitochondrial
AliasesCOXPD12; MSE1; gluRS
GeneCards (Weizmann)EARS2
Ensembl hg19 (Hinxton)ENSG00000103356 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000103356 [Gene_View]  chr16:23522013-23557375 [Contig_View]  EARS2 [Vega]
ICGC DataPortalENSG00000103356
TCGA cBioPortalEARS2
AceView (NCBI)EARS2
Genatlas (Paris)EARS2
WikiGenes124454
SOURCE (Princeton)EARS2
Genetics Home Reference (NIH)EARS2
Genomic and cartography
GoldenPath hg38 (UCSC)EARS2  -     chr16:23522013-23557375 -  16p12.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EARS2  -     16p12.2   [Description]    (hg19-Feb_2009)
EnsemblEARS2 - 16p12.2 [CytoView hg19]  EARS2 - 16p12.2 [CytoView hg38]
Mapping of homologs : NCBIEARS2 [Mapview hg19]  EARS2 [Mapview hg38]
OMIM612799   614924   
Gene and transcription
Genbank (Entrez)AB075850 AF088053 AK095998 AL832489 BC020592
RefSeq transcript (Entrez)NM_001083614 NM_001308211
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EARS2
Cluster EST : UnigeneHs.620541 [ NCBI ]
CGAP (NCI)Hs.620541
Alternative Splicing GalleryENSG00000103356
Gene ExpressionEARS2 [ NCBI-GEO ]   EARS2 [ EBI - ARRAY_EXPRESS ]   EARS2 [ SEEK ]   EARS2 [ MEM ]
Gene Expression Viewer (FireBrowse)EARS2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)124454
GTEX Portal (Tissue expression)EARS2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5JPH6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5JPH6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5JPH6
Splice isoforms : SwissVarQ5JPH6
Catalytic activity : Enzyme6.1.1.17 [ Enzyme-Expasy ]   6.1.1.176.1.1.17 [ IntEnz-EBI ]   6.1.1.17 [ BRENDA ]   6.1.1.17 [ KEGG ]   
PhosPhoSitePlusQ5JPH6
Domaine pattern : Prosite (Expaxy)AA_TRNA_LIGASE_I (PS00178)   
Domains : Interpro (EBI)aa-tRNA-synth_I_codon-bd    aa-tRNA-synth_I_codon-bd_sub2    aa-tRNA-synth_I_CS    Glu-tRNA-ligase_bac/mito    Glu/Gln-tRNA-synth    Glu/Gln-tRNA-synth_Ib_a-bdl    Glu/Gln-tRNA-synth_Ib_cat-dom    GluRS_core    Rossmann-like_a/b/a_fold   
Domain families : Pfam (Sanger)tRNA-synt_1c (PF00749)   
Domain families : Pfam (NCBI)pfam00749   
Conserved Domain (NCBI)EARS2
DMDM Disease mutations124454
Blocks (Seattle)EARS2
SuperfamilyQ5JPH6
Human Protein AtlasENSG00000103356
Peptide AtlasQ5JPH6
IPIIPI00642156   IPI00384503   IPI00384707   
Protein Interaction databases
DIP (DOE-UCLA)Q5JPH6
IntAct (EBI)Q5JPH6
FunCoupENSG00000103356
BioGRIDEARS2
STRING (EMBL)EARS2
ZODIACEARS2
Ontologies - Pathways
QuickGOQ5JPH6
Ontology : AmiGOtRNA binding  glutamate-tRNA ligase activity  ATP binding  mitochondrion  mitochondrial matrix  glutamyl-tRNA aminoacylation  zinc ion binding  glutamate-tRNA(Gln) ligase activity  tRNA aminoacylation for mitochondrial protein translation  
Ontology : EGO-EBItRNA binding  glutamate-tRNA ligase activity  ATP binding  mitochondrion  mitochondrial matrix  glutamyl-tRNA aminoacylation  zinc ion binding  glutamate-tRNA(Gln) ligase activity  tRNA aminoacylation for mitochondrial protein translation  
Pathways : KEGGPorphyrin and chlorophyll metabolism    Aminoacyl-tRNA biosynthesis   
NDEx NetworkEARS2
Atlas of Cancer Signalling NetworkEARS2
Wikipedia pathwaysEARS2
Orthology - Evolution
OrthoDB124454
GeneTree (enSembl)ENSG00000103356
Phylogenetic Trees/Animal Genes : TreeFamEARS2
HOVERGENQ5JPH6
HOGENOMQ5JPH6
Homologs : HomoloGeneEARS2
Homology/Alignments : Family Browser (UCSC)EARS2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEARS2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EARS2
dbVarEARS2
ClinVarEARS2
1000_GenomesEARS2 
Exome Variant ServerEARS2
ExAC (Exome Aggregation Consortium)EARS2 (select the gene name)
Genetic variants : HAPMAP124454
Genomic Variants (DGV)EARS2 [DGVbeta]
DECIPHEREARS2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEARS2 
Mutations
ICGC Data PortalEARS2 
TCGA Data PortalEARS2 
Broad Tumor PortalEARS2
OASIS PortalEARS2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEARS2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEARS2
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 EARS2
DgiDB (Drug Gene Interaction Database)EARS2
DoCM (Curated mutations)EARS2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EARS2 (select a term)
intoGenEARS2
Cancer3DEARS2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612799    614924   
Orphanet21475   
MedgenEARS2
Genetic Testing Registry EARS2
NextProtQ5JPH6 [Medical]
TSGene124454
GENETestsEARS2
Target ValidationEARS2
Huge Navigator EARS2 [HugePedia]
snp3D : Map Gene to Disease124454
BioCentury BCIQEARS2
ClinGenEARS2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD124454
Chemical/Pharm GKB GenePA144596439
Clinical trialEARS2
Miscellaneous
canSAR (ICR)EARS2 (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEARS2
EVEXEARS2
GoPubMedEARS2
iHOPEARS2
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 13:06:47 CEST 2017

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