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AARS2 (alanyl-tRNA synthetase 2, mitochondrial)

Identity

Alias_namesAARSL
alanyl-tRNA synthetase like
alanyl-tRNA synthetase 2, mitochondrial (putative)
Alias_symbol (synonym)KIAA1270
bA444E17.1
Other aliasCOXPD8
LKENP
MT-ALARS
MTALARS
HGNC (Hugo) AARS2
LocusID (NCBI) 57505
Atlas_Id 60020
Location 6p21.1  [Link to chromosome band 6p21]
Location_base_pair Starts at 44298726 and ends at 44313326 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(6;6)(p21;p21) AARS2/SPATS1
t(6;7)(p21;q11) EIF4H/AARS2


External links

Nomenclature
HGNC (Hugo)AARS2   21022
Cards
Entrez_Gene (NCBI)AARS2  57505  alanyl-tRNA synthetase 2, mitochondrial
AliasesAARSL; COXPD8; LKENP; MT-ALARS; 
MTALARS
GeneCards (Weizmann)AARS2
Ensembl hg19 (Hinxton)ENSG00000124608 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000124608 [Gene_View]  ENSG00000124608 [Sequence]  chr6:44298726-44313326 [Contig_View]  AARS2 [Vega]
ICGC DataPortalENSG00000124608
TCGA cBioPortalAARS2
AceView (NCBI)AARS2
Genatlas (Paris)AARS2
WikiGenes57505
SOURCE (Princeton)AARS2
Genetics Home Reference (NIH)AARS2
Genomic and cartography
GoldenPath hg38 (UCSC)AARS2  -     chr6:44298726-44313326 -  6p21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AARS2  -     6p21.1   [Description]    (hg19-Feb_2009)
EnsemblAARS2 - 6p21.1 [CytoView hg19]  AARS2 - 6p21.1 [CytoView hg38]
Mapping of homologs : NCBIAARS2 [Mapview hg19]  AARS2 [Mapview hg38]
OMIM612035   614096   615889   
Gene and transcription
Genbank (Entrez)AB033096 AL536467 BC013593 BC021131 BC033169
RefSeq transcript (Entrez)NM_020745
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)AARS2
Cluster EST : UnigeneHs.158381 [ NCBI ]
CGAP (NCI)Hs.158381
Alternative Splicing GalleryENSG00000124608
Gene ExpressionAARS2 [ NCBI-GEO ]   AARS2 [ EBI - ARRAY_EXPRESS ]   AARS2 [ SEEK ]   AARS2 [ MEM ]
Gene Expression Viewer (FireBrowse)AARS2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57505
GTEX Portal (Tissue expression)AARS2
Human Protein AtlasENSG00000124608-AARS2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5JTZ9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5JTZ9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5JTZ9
Splice isoforms : SwissVarQ5JTZ9
PhosPhoSitePlusQ5JTZ9
Domaine pattern : Prosite (Expaxy)AA_TRNA_LIGASE_II_ALA (PS50860)   
Domains : Interpro (EBI)Ala-tRNA-lgiase_IIc    Ala-tRNA-ligase_IIc_anticod-bd    Ala-tRNA-synth_IIc_core    Ala-tRNA-synth_IIc_N    Ala_tRNA_ligase_euk/bac    Thr/Ala-tRNA-synth_IIc_edit    Transl_B-barrel    tRNA_SAD   
Domain families : Pfam (Sanger)tRNA-synt_2c (PF01411)    tRNA_SAD (PF07973)   
Domain families : Pfam (NCBI)pfam01411    pfam07973   
Domain families : Smart (EMBL)tRNA_SAD (SM00863)  
Conserved Domain (NCBI)AARS2
DMDM Disease mutations57505
Blocks (Seattle)AARS2
SuperfamilyQ5JTZ9
Human Protein Atlas [tissue]ENSG00000124608-AARS2 [tissue]
Peptide AtlasQ5JTZ9
HPRD12397
IPIIPI00394788   
Protein Interaction databases
DIP (DOE-UCLA)Q5JTZ9
IntAct (EBI)Q5JTZ9
FunCoupENSG00000124608
BioGRIDAARS2
STRING (EMBL)AARS2
ZODIACAARS2
Ontologies - Pathways
QuickGOQ5JTZ9
Ontology : AmiGOtRNA binding  alanine-tRNA ligase activity  ATP binding  mitochondrion  tRNA modification  amino acid binding  mitochondrial respiratory chain complex assembly  metal ion binding  mitochondrial alanyl-tRNA aminoacylation  
Ontology : EGO-EBItRNA binding  alanine-tRNA ligase activity  ATP binding  mitochondrion  tRNA modification  amino acid binding  mitochondrial respiratory chain complex assembly  metal ion binding  mitochondrial alanyl-tRNA aminoacylation  
NDEx NetworkAARS2
Atlas of Cancer Signalling NetworkAARS2
Wikipedia pathwaysAARS2
Orthology - Evolution
OrthoDB57505
GeneTree (enSembl)ENSG00000124608
Phylogenetic Trees/Animal Genes : TreeFamAARS2
HOVERGENQ5JTZ9
HOGENOMQ5JTZ9
Homologs : HomoloGeneAARS2
Homology/Alignments : Family Browser (UCSC)AARS2
Gene fusions - Rearrangements
Fusion : QuiverAARS2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAARS2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AARS2
dbVarAARS2
ClinVarAARS2
1000_GenomesAARS2 
Exome Variant ServerAARS2
ExAC (Exome Aggregation Consortium)ENSG00000124608
GNOMAD BrowserENSG00000124608
Varsome BrowserAARS2
Genetic variants : HAPMAP57505
Genomic Variants (DGV)AARS2 [DGVbeta]
DECIPHERAARS2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAARS2 
Mutations
ICGC Data PortalAARS2 
TCGA Data PortalAARS2 
Broad Tumor PortalAARS2
OASIS PortalAARS2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAARS2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAARS2
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 AARS2
DgiDB (Drug Gene Interaction Database)AARS2
DoCM (Curated mutations)AARS2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AARS2 (select a term)
intoGenAARS2
Cancer3DAARS2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612035    614096    615889   
Orphanet21663    14426   
DisGeNETAARS2
MedgenAARS2
Genetic Testing Registry AARS2
NextProtQ5JTZ9 [Medical]
TSGene57505
GENETestsAARS2
Target ValidationAARS2
Huge Navigator AARS2 [HugePedia]
snp3D : Map Gene to Disease57505
BioCentury BCIQAARS2
ClinGenAARS2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57505
Chemical/Pharm GKB GenePA162375129
Clinical trialAARS2
Miscellaneous
canSAR (ICR)AARS2 (select the gene name)
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAARS2
EVEXAARS2
GoPubMedAARS2
iHOPAARS2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Jul 30 13:34:16 CEST 2018

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