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NARS2 (asparaginyl-tRNA synthetase 2, mitochondrial)

Identity

Alias_namesDFNB94
deafness, autosomal recessive 94
asparaginyl-tRNA synthetase 2, mitochondrial (putative)
Alias_symbol (synonym)FLJ23441
SLM5
Other aliasasnRS
HGNC (Hugo) NARS2
LocusID (NCBI) 79731
Atlas_Id 54487
Location 11q14.1  [Link to chromosome band 11q14]
Location_base_pair Starts at 78435961 and ends at 78574864 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)
ALG8 (11q14.1) / NARS2 (11q14.1)COL4A2 (13q34) / NARS2 (11q14.1)ERBB2 (17q12) / NARS2 (11q14.1)
GAB2 (11q14.1) / NARS2 (11q14.1)GTF2E2 (8p12) / NARS2 (11q14.1)INTS4 (11q14.1) / NARS2 (11q14.1)
NARS2 (11q14.1) / HMGB2 (4q34.1)NARS2 (11q14.1) / ME3 (11q14.2)NARS2 (11q14.1) / MMP10 (11q22.2)
NARS2 (11q14.1) / PAK1 (11q13.5)NARS2 (11q14.1) / RSF1 (11q14.1)NARS2 (11q14.1) / VTI1A (10q25.2)
ORAOV1 (11q13.3) / NARS2 (11q14.1)PAK1 (11q13.5) / NARS2 (11q14.1)PPME1 (11q13.4) / NARS2 (11q14.1)
RARA (17q21.2) / NARS2 (11q14.1)RP11-360L9.4 () / NARS2 (11q14.1)RPS6 (9p22.1) / NARS2 (11q14.1)
SCFD2 (4q12) / NARS2 (11q14.1)ALG8 11q14.1 / NARS2 11q14.1ERBB2 17q12 / NARS2 11q14.1
GTF2E2 8p12 / NARS2 11q14.1INTS4 11q14.1 / NARS2 11q14.1NARS2 11q14.1 / ME3 11q14.2
ORAOV1 11q13.3 / NARS2 11q14.1PAK1 11q13.5 / NARS2 11q14.1PPME1 11q13.4 / NARS2 11q14.1
RP11-360L9.4 NARS2 11q14.1SCFD2 4q12 / NARS2 11q14.1

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) [ 13 ]

Solid Tumors TranslocLungSmallCellCarcID6651 TT_t0411q12q14ID106226 TT_t0811p12q14ID107815 TT_t1111q13q14ID100755 TT_t1111q13q14ID100760
TT_t1111q14q14ID100787 TT_t1111q14q14ID100798 TT_t1111q14q14ID100799 TT_t1111q14q14ID100800 TT_t1111q14q14ID100803
TT_t1111q14q14ID6723 TT_t1117q14q12ID100993 TT_t1117q14q21ID100997

External links

Nomenclature
HGNC (Hugo)NARS2   26274
Cards
Entrez_Gene (NCBI)NARS2  79731  asparaginyl-tRNA synthetase 2, mitochondrial
AliasesDFNB94; SLM5; asnRS
GeneCards (Weizmann)NARS2
Ensembl hg19 (Hinxton)ENSG00000137513 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000137513 [Gene_View]  ENSG00000137513 [Sequence]  chr11:78435961-78574864 [Contig_View]  NARS2 [Vega]
ICGC DataPortalENSG00000137513
TCGA cBioPortalNARS2
AceView (NCBI)NARS2
Genatlas (Paris)NARS2
WikiGenes79731
SOURCE (Princeton)NARS2
Genetics Home Reference (NIH)NARS2
Genomic and cartography
GoldenPath hg38 (UCSC)NARS2  -     chr11:78435961-78574864 -  11q14.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NARS2  -     11q14.1   [Description]    (hg19-Feb_2009)
GoldenPathNARS2 - 11q14.1 [CytoView hg19]  NARS2 - 11q14.1 [CytoView hg38]
ImmunoBaseENSG00000137513
Mapping of homologs : NCBINARS2 [Mapview hg19]  NARS2 [Mapview hg38]
OMIM612803   616239   618434   
Gene and transcription
Genbank (Entrez)AK027094 AK056980 AK225444 AK315425 AW968557
RefSeq transcript (Entrez)NM_001243251 NM_024678
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NARS2
Cluster EST : UnigeneHs.503389 [ NCBI ]
CGAP (NCI)Hs.503389
Alternative Splicing GalleryENSG00000137513
Gene ExpressionNARS2 [ NCBI-GEO ]   NARS2 [ EBI - ARRAY_EXPRESS ]   NARS2 [ SEEK ]   NARS2 [ MEM ]
Gene Expression Viewer (FireBrowse)NARS2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79731
GTEX Portal (Tissue expression)NARS2
Human Protein AtlasENSG00000137513-NARS2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96I59   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96I59  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96I59
Splice isoforms : SwissVarQ96I59
Catalytic activity : Enzyme6.1.1.22 [ Enzyme-Expasy ]   6.1.1.226.1.1.22 [ IntEnz-EBI ]   6.1.1.22 [ BRENDA ]   6.1.1.22 [ KEGG ]   
PhosPhoSitePlusQ96I59
Domaine pattern : Prosite (Expaxy)AA_TRNA_LIGASE_II (PS50862)   
Domains : Interpro (EBI)aa-tRNA-synt_II    aa-tRNA-synth_II    Asn-tRNA-ligase    Asp/Asn-tRNA-synth_IIb    NA-bd_OB-fold    NA-bd_OB_tRNA   
Domain families : Pfam (Sanger)tRNA-synt_2 (PF00152)    tRNA_anti-codon (PF01336)   
Domain families : Pfam (NCBI)pfam00152    pfam01336   
Conserved Domain (NCBI)NARS2
DMDM Disease mutations79731
Blocks (Seattle)NARS2
SuperfamilyQ96I59
Human Protein Atlas [tissue]ENSG00000137513-NARS2 [tissue]
Peptide AtlasQ96I59
HPRD08026
IPIIPI00101664   IPI00975589   IPI00982972   IPI00980024   IPI00979137   IPI00979385   
Protein Interaction databases
DIP (DOE-UCLA)Q96I59
IntAct (EBI)Q96I59
FunCoupENSG00000137513
BioGRIDNARS2
STRING (EMBL)NARS2
ZODIACNARS2
Ontologies - Pathways
QuickGOQ96I59
Ontology : AmiGOnucleic acid binding  asparagine-tRNA ligase activity  ATP binding  nucleoplasm  mitochondrion  mitochondrion  mitochondrial matrix  cytosol  asparaginyl-tRNA aminoacylation  
Ontology : EGO-EBInucleic acid binding  asparagine-tRNA ligase activity  ATP binding  nucleoplasm  mitochondrion  mitochondrion  mitochondrial matrix  cytosol  asparaginyl-tRNA aminoacylation  
Pathways : KEGGAminoacyl-tRNA biosynthesis   
NDEx NetworkNARS2
Atlas of Cancer Signalling NetworkNARS2
Wikipedia pathwaysNARS2
Orthology - Evolution
OrthoDB79731
GeneTree (enSembl)ENSG00000137513
Phylogenetic Trees/Animal Genes : TreeFamNARS2
HOGENOMQ96I59
Homologs : HomoloGeneNARS2
Homology/Alignments : Family Browser (UCSC)NARS2
Gene fusions - Rearrangements
Fusion : MitelmanALG8/NARS2 [11q14.1/11q14.1]  [t(11;11)(q14;q14)]  
Fusion : MitelmanERBB2/NARS2 [17q12/11q14.1]  [t(11;17)(q14;q12)]  
Fusion : MitelmanGAB2/NARS2 [11q14.1/11q14.1]  [t(11;11)(q14;q14)]  
Fusion : MitelmanGTF2E2/NARS2 [8p12/11q14.1]  [t(8;11)(p12;q14)]  
Fusion : MitelmanINTS4/NARS2 [11q14.1/11q14.1]  [t(11;11)(q14;q14)]  
Fusion : MitelmanNARS2/ME3 [11q14.1/11q14.2]  [t(11;11)(q14;q14)]  
Fusion : MitelmanORAOV1/NARS2 [11q13.3/11q14.1]  [t(11;11)(q13;q14)]  
Fusion : MitelmanPAK1/NARS2 [11q13.5/11q14.1]  [t(11;11)(q14;q14)]  
Fusion : MitelmanPPME1/NARS2 [11q13.4/11q14.1]  [t(11;11)(q13;q14)]  
Fusion : MitelmanRARA/NARS2 [17q21.2/11q14.1]  [t(11;17)(q14;q21)]  
Fusion : MitelmanSCFD2/NARS2 [4q12/11q14.1]  [t(4;11)(q12;q14)]  
Fusion PortalALG8 11q14.1 NARS2 11q14.1 BRCA
Fusion PortalERBB2 17q12 NARS2 11q14.1 BRCA
Fusion PortalGTF2E2 8p12 NARS2 11q14.1 BRCA
Fusion PortalINTS4 11q14.1 NARS2 11q14.1 OV
Fusion PortalNARS2 11q14.1 ME3 11q14.2 LUAD
Fusion PortalORAOV1 11q13.3 NARS2 11q14.1 LUAD
Fusion PortalPAK1 11q13.5 NARS2 11q14.1 PRAD
Fusion PortalPPME1 11q13.4 NARS2 11q14.1 BRCA
Fusion PortalRP11-360L9.4 NARS2 11q14.1 BRCA
Fusion PortalSCFD2 4q12 NARS2 11q14.1 LUAD
Fusion : QuiverNARS2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNARS2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NARS2
dbVarNARS2
ClinVarNARS2
1000_GenomesNARS2 
Exome Variant ServerNARS2
ExAC (Exome Aggregation Consortium)ENSG00000137513
GNOMAD BrowserENSG00000137513
Varsome BrowserNARS2
Genetic variants : HAPMAP79731
Genomic Variants (DGV)NARS2 [DGVbeta]
DECIPHERNARS2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNARS2 
Mutations
ICGC Data PortalNARS2 
TCGA Data PortalNARS2 
Broad Tumor PortalNARS2
OASIS PortalNARS2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNARS2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DNARS2
Mutations and Diseases : HGMDNARS2
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 NARS2
DgiDB (Drug Gene Interaction Database)NARS2
DoCM (Curated mutations)NARS2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NARS2 (select a term)
intoGenNARS2
Cancer3DNARS2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612803    616239    618434   
Orphanet23489   
DisGeNETNARS2
MedgenNARS2
Genetic Testing Registry NARS2
NextProtQ96I59 [Medical]
TSGene79731
GENETestsNARS2
Target ValidationNARS2
Huge Navigator NARS2 [HugePedia]
snp3D : Map Gene to Disease79731
BioCentury BCIQNARS2
ClinGenNARS2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79731
Chemical/Pharm GKB GenePA143485554
Clinical trialNARS2
Miscellaneous
canSAR (ICR)NARS2 (select the gene name)
DataMed IndexNARS2
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNARS2
EVEXNARS2
GoPubMedNARS2
iHOPNARS2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Jan 27 14:55:54 CET 2020
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