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HARS2 (histidyl-tRNA synthetase 2, mitochondrial)

Identity

Alias_namesmitochondrial (putative)
HARSL
Alias_symbol (synonym)HO3
HARSR
Other aliasPRLTS2
HGNC (Hugo) HARS2
LocusID (NCBI) 23438
Atlas_Id 54352
Location 5q31.3  [Link to chromosome band 5q31]
Location_base_pair Starts at 140691426 and ends at 140699321 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
HARS2 (5q31.3) / DDX1 (2p24.3)HARS2 (5q31.3) / SEC11C (18q21.32)HARS2 (5q31.3) / ZMAT2 (5q31.3)

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)HARS2   4817
Cards
Entrez_Gene (NCBI)HARS2  23438  histidyl-tRNA synthetase 2, mitochondrial
AliasesHARSL; HARSR; HO3; PRLTS2
GeneCards (Weizmann)HARS2
Ensembl hg19 (Hinxton)ENSG00000112855 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000112855 [Gene_View]  chr5:140691426-140699321 [Contig_View]  HARS2 [Vega]
ICGC DataPortalENSG00000112855
TCGA cBioPortalHARS2
AceView (NCBI)HARS2
Genatlas (Paris)HARS2
WikiGenes23438
SOURCE (Princeton)HARS2
Genetics Home Reference (NIH)HARS2
Genomic and cartography
GoldenPath hg38 (UCSC)HARS2  -     chr5:140691426-140699321 +  5q31.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HARS2  -     5q31.3   [Description]    (hg19-Feb_2009)
EnsemblHARS2 - 5q31.3 [CytoView hg19]  HARS2 - 5q31.3 [CytoView hg38]
Mapping of homologs : NCBIHARS2 [Mapview hg19]  HARS2 [Mapview hg38]
OMIM600783   614926   
Gene and transcription
Genbank (Entrez)AI865702 AK293269 AK293390 AK298661 AK299971
RefSeq transcript (Entrez)NM_001278731 NM_001278732 NM_012208
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HARS2
Cluster EST : UnigeneHs.432560 [ NCBI ]
CGAP (NCI)Hs.432560
Alternative Splicing GalleryENSG00000112855
Gene ExpressionHARS2 [ NCBI-GEO ]   HARS2 [ EBI - ARRAY_EXPRESS ]   HARS2 [ SEEK ]   HARS2 [ MEM ]
Gene Expression Viewer (FireBrowse)HARS2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23438
GTEX Portal (Tissue expression)HARS2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP49590   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP49590  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP49590
Splice isoforms : SwissVarP49590
Catalytic activity : Enzyme6.1.1.21 [ Enzyme-Expasy ]   6.1.1.216.1.1.21 [ IntEnz-EBI ]   6.1.1.21 [ BRENDA ]   6.1.1.21 [ KEGG ]   
PhosPhoSitePlusP49590
Domaine pattern : Prosite (Expaxy)AA_TRNA_LIGASE_II (PS50862)   
Domains : Interpro (EBI)aa-tRNA-synth_II    Anticodon-bd    His-tRNA-ligase    HisRS/HisZ    HisRS_anticodon   
Domain families : Pfam (Sanger)HGTP_anticodon (PF03129)   
Domain families : Pfam (NCBI)pfam03129   
Conserved Domain (NCBI)HARS2
DMDM Disease mutations23438
Blocks (Seattle)HARS2
SuperfamilyP49590
Human Protein AtlasENSG00000112855
Peptide AtlasP49590
HPRD02871
IPIIPI00027445   IPI00940266   IPI00942264   IPI00908759   IPI00910031   IPI00967825   IPI00966091   IPI00909584   IPI00968063   IPI00966936   
Protein Interaction databases
DIP (DOE-UCLA)P49590
IntAct (EBI)P49590
FunCoupENSG00000112855
BioGRIDHARS2
STRING (EMBL)HARS2
ZODIACHARS2
Ontologies - Pathways
QuickGOP49590
Ontology : AmiGORNA binding  histidine-tRNA ligase activity  histidine-tRNA ligase activity  histidine-tRNA ligase activity  protein binding  ATP binding  mitochondrion  mitochondrial matrix  translation  tRNA aminoacylation for protein translation  histidyl-tRNA aminoacylation  mitochondrial translation  protein homodimerization activity  
Ontology : EGO-EBIRNA binding  histidine-tRNA ligase activity  histidine-tRNA ligase activity  histidine-tRNA ligase activity  protein binding  ATP binding  mitochondrion  mitochondrial matrix  translation  tRNA aminoacylation for protein translation  histidyl-tRNA aminoacylation  mitochondrial translation  protein homodimerization activity  
Pathways : KEGGAminoacyl-tRNA biosynthesis   
NDEx NetworkHARS2
Atlas of Cancer Signalling NetworkHARS2
Wikipedia pathwaysHARS2
Orthology - Evolution
OrthoDB23438
GeneTree (enSembl)ENSG00000112855
Phylogenetic Trees/Animal Genes : TreeFamHARS2
HOVERGENP49590
HOGENOMP49590
Homologs : HomoloGeneHARS2
Homology/Alignments : Family Browser (UCSC)HARS2
Gene fusions - Rearrangements
Fusion : MitelmanHARS2/ZMAT2 [5q31.3/5q31.3]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHARS2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HARS2
dbVarHARS2
ClinVarHARS2
1000_GenomesHARS2 
Exome Variant ServerHARS2
ExAC (Exome Aggregation Consortium)HARS2 (select the gene name)
Genetic variants : HAPMAP23438
Genomic Variants (DGV)HARS2 [DGVbeta]
DECIPHERHARS2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHARS2 
Mutations
ICGC Data PortalHARS2 
TCGA Data PortalHARS2 
Broad Tumor PortalHARS2
OASIS PortalHARS2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHARS2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHARS2
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 HARS2
DgiDB (Drug Gene Interaction Database)HARS2
DoCM (Curated mutations)HARS2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HARS2 (select a term)
intoGenHARS2
Cancer3DHARS2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600783    614926   
Orphanet2589   
MedgenHARS2
Genetic Testing Registry HARS2
NextProtP49590 [Medical]
TSGene23438
GENETestsHARS2
Huge Navigator HARS2 [HugePedia]
snp3D : Map Gene to Disease23438
BioCentury BCIQHARS2
ClinGenHARS2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23438
Chemical/Pharm GKB GenePA29192
Clinical trialHARS2
Miscellaneous
canSAR (ICR)HARS2 (select the gene name)
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHARS2
EVEXHARS2
GoPubMedHARS2
iHOPHARS2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:18:23 CEST 2017

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