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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HARS2 Gene

protein-coding   GIFtS: 61
GCID: GC05P140095

Histidyl-TRNA Synthetase 2, Mitochondrial

(Previous name: histidyl-tRNA synthetase-like)
(Previous symbol: HARSL)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Histidyl-TRNA Synthetase 2, Mitochondrial1 2     Histidine Translase2
HARSL1 2 3 5     Histidine TRNA Ligase 2, Mitochondrial (Putative)2
HARSR2 3 5     Histidine-TRNA Ligase Homolog2
HO32 3 5     Histidyl-TRNA Synthetase 2, Mitochondrial (Putative)2
EC 6.1.1.213 8     Probable Histidine--TRNA Ligase, Mitochondrial2
Histidine TRNA Ligase 21     Probable Histidyl-TRNA Synthetase, Mitochondrial2
Histidyl-TRNA Synthetase-Like1     HisRS3
Mitochondrial (Putative)1     Histidine--TRNA Ligase-Like3
HARS-related2     Histidyl-TRNA Synthetase3
PRLTS22     EC 6.1.18
hisRS2     

External Ids:    HGNC: 48171   Entrez Gene: 234382   Ensembl: ENSG000001128557   OMIM: 6007835   UniProtKB: P495903   

Export aliases for HARS2 gene to outside databases

Previous GC identifers: GC20P018556 GC20P018563 GC20P018516 GC05P140053 GC05P135216 GC05P140088


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for HARS2 Gene:
Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein
encoded by this gene is an enzyme belonging to the class II family of aminoacyl-tRNA synthetases. Functioning in
the synthesis of histidyl-transfer RNA, the enzyme plays an accessory role in the regulation of protein
biosynthesis. The gene is located in a head-to-head orientation with HARS on chromosome five, where the
homologous genes likely share a bidirectional promoter. Mutations in this gene are associated with the
pathogenesis of Perrault syndrome, which involves ovarian dysgenesis and sensorineural hearing loss. Alternative
splicing results in multiple transcript variants of this gene. (provided by RefSeq, Jul 2013)

GeneCards Summary for HARS2 Gene: 
HARS2 (histidyl-tRNA synthetase 2, mitochondrial) is a protein-coding gene. Diseases associated with HARS2 include sensorineural hearing loss, and pneumonia, and among its related super-pathways are Cytosolic tRNA aminoacylation and Generic Transcription Pathway. GO annotations related to this gene include histidine-tRNA ligase activity and ATP binding. An important paralog of this gene is HARS.

Gene Wiki entry for HARS2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NT_029289.11  NC_018916.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HARS2 gene promoter:
         SRF   p53   SRF (504 AA)   Lmo2   Nkx2-5   YY1   PPAR-alpha   PPAR-gamma1   PPAR-gamma2   NF-E2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHARS2 promoter sequence
   Search SABiosciences Chromatin IP Primers for HARS2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HARS2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q31.3   Ensembl cytogenetic band:  5q31.3   HGNC cytogenetic band: 5q31.3

HARS2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HARS2 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P140095:  view genomic region     (about GC identifiers)

Start:
140,071,011 bp from pter      End:
140,078,890 bp from pter
Size:
7,880 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SYHM_HUMAN, P49590 (See protein sequence)
Recommended Name: Probable histidine--tRNA ligase, mitochondrial precursor  
Size: 506 amino acids; 56888 Da
Subunit: Homodimer
Subcellular location: Mitochondrion matrix (By similarity)

Explore the universe of human proteins at neXtProt for HARS2: NX_P49590

Explore proteomics data for HARS2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P49590

  • 4/16 DME Specific Peptides for HARS2 (P49590) (see all 16)
     GLDYYTG  CFKRHGA  GGRYDGL  FAVCGVP 

    HARS2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HARS2 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001265660.1  NP_001265661.1  NP_036340.1  

    ENSEMBL proteins: 
     ENSP00000230771   ENSP00000429220   ENSP00000423530   ENSP00000425695   ENSP00000424516  
     ENSP00000423616   ENSP00000407105   ENSP00000412887   ENSP00000411708   ENSP00000415007  
    Reactome Protein details: P49590
    Human Recombinant Protein Products for HARS2: 
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    Novus Biologicals HARS2 Protein
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for HARS2 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm NAS--
    GO:0005739mitochondrion ----
    GO:0005759mitochondrial matrix TAS--

    HARS2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    aaRS2: Aminoacyl tRNA synthetases / Class II

    5 InterPro protein domains:
     IPR002314 aa-tRNA-synt_IIb_cons-dom
     IPR006195 aa-tRNA-synth_II
     IPR015807 His-tRNA-ligase
     IPR004154 Anticodon-bd
     IPR004516 HisRS/HisZ

    Graphical View of Domain Structure for InterPro Entry P49590

    ProtoNet protein and cluster: P49590

    UniProtKB/Swiss-Prot: SYHM_HUMAN, P49590
    Similarity: Belongs to the class-II aminoacyl-tRNA synthetase family


    HARS2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SYHM_HUMAN, P49590
    Catalytic activity: ATP + L-histidine + tRNA(His) = AMP + diphosphate + L-histidyl-tRNA(His)

         Enzyme Numbers (IUBMB): EC 6.1.1.211 2 EC 6.1.12

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0004812aminoacyl-tRNA ligase activity ----
    GO:0004821histidine-tRNA ligase activity NAS7755634
    GO:0005524ATP binding NAS--
         
    HARS2 for ontologies           About GeneDecksing


    Animal Models:
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    8 QIAGEN miScript miRNA Assays for microRNAs that regulate HARS2:
    hsa-miR-221* hsa-miR-148b* hsa-miR-593 hsa-miR-298 hsa-miR-922 hsa-miR-139-5p hsa-miR-765 hsa-miR-4277
    SwitchGear 3'UTR luciferase reporter plasmidHARS2 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HARS2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for HARS2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1tRNA Aminoacylation
    tRNA Aminoacylation0.57
    Mitochondrial tRNA aminoacylation0.50
    Aminoacyl-tRNA biosynthesis0.54
    2Generic Transcription Pathway
    Gene Expression0.47

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3        Reactome Pathways for HARS2
        tRNA Aminoacylation
    Gene Expression
    Mitochondrial tRNA aminoacylation


    1         Kegg Pathway  (Kegg details for HARS2):
        Aminoacyl-tRNA biosynthesis


    HARS2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HARS2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/250 Interacting proteins for HARS2 (P495902, 3 ENSP000002307714) via UniProtKB, MINT, STRING, and/or I2D (see all 250)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    AARS2Q5JTZ92MINT-8079030
    AASSQ9UDR52MINT-8079030
    ABCB7O750272MINT-8079030
    ACAD9Q9H8452MINT-8079030
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006412translation NAS7755634
    GO:0006418tRNA aminoacylation for protein translation TAS--
    GO:0006427histidyl-tRNA aminoacylation IEA--
    GO:0010467gene expression TAS--

    HARS2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    HARS2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HARS2 (SYHM)

    5 HMDB Compounds for HARS2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    L-Histidine(S)-1H-Imidazole-4-alanine (see all 20)71-00-1--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--

    1 Novoseek inferred chemical compound relationship for HARS2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    trna 62.7 4 10983975 (2), 15964839 (1)

    Search CenterWatch for drugs/clinical trials and news about HARS2 / SYHM

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for HARS2 gene (3 alternative transcripts): 
    NM_001278731.1  NM_001278732.1  NM_012208.3  

    Unigene Cluster for HARS2:

    Histidyl-tRNA synthetase 2, mitochondrial
    Hs.432560  [show with all ESTs]
    Unigene Representative Sequence: NM_012208
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000230771(uc003lgx.3 uc011czr.2 uc011czs.2 uc011czt.2)
    ENST00000520095 ENST00000510104(uc010jfv.1) ENST00000509299 ENST00000511913
    ENST00000503873 ENST00000502303 ENST00000513912 ENST00000506318 ENST00000508522
    ENST00000448069 ENST00000513688 ENST00000435019(uc011czu.2) ENST00000437649
    ENST00000432671
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    8 QIAGEN miScript miRNA Assays for microRNAs that regulate HARS2:
    hsa-miR-221* hsa-miR-148b* hsa-miR-593 hsa-miR-298 hsa-miR-922 hsa-miR-139-5p hsa-miR-765 hsa-miR-4277
    SwitchGear 3'UTR luciferase reporter plasmidHARS2 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AK293269.1 AK293390.1 AK298661.1 AK299971.1 AK309832.1 AK311277.1 AK312976.1 BC007680.2 
    BC014982.1 U18937.1 

    11 DOTS entries:

    DT.115301  DT.100814557  DT.91764616  DT.120887688  DT.120887546  DT.452906  DT.100814561  DT.91764613 
    DT.95103823  DT.95120098  DT.91764610 

    24/532 AceView cDNA sequences (see all 532):

    CR613950 BM826114 BQ216278 CA421132 AA354560 BQ065873 NM_012208 BU184708 
    AA128493 BQ060977 CD722639 AA577499 BF796500 AA705544 AI682001 BU683863 
    AI025011 BG250056 AJ712800 AI336036 BU165193 BU687046 CA405751 BI259655 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for HARS2 (see all 10)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15
    SP1:                                            -     -     -           -                                                                                       
    SP2:                                            -     -     -           -                 -     -     -                                                         
    SP3:                          -     -           -     -     -           -                                                                                       
    SP4:                                                                                      -     -     -                                                         
    SP5:                          -     -     -                 -           -                                                                                       


    ECgene alternative splicing isoforms for HARS2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HARS2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTAAATAAAA
    HARS2 Expression
    About this image


    See HARS2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HARS2

    SOURCE GeneReport for Unigene cluster: Hs.432560

    UniProtKB/Swiss-Prot: SYHM_HUMAN, P49590
    Tissue specificity: A high level expression is seen in the heart, kidney and skeletal muscle while a lower level
    expression is seen in the brain and liver

        SABiosciences Custom PCR Arrays for HARS2
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HARS2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for HARS2 gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hars21 , 5 histidyl-tRNA synthetase 2, mitochondrial (putative)1, 5 84.99(n)1
    84.52(a)1
      18 (19.46 cM)5
    707911  NM_080636.11  NP_542367.11 
     367830085 
    chicken
    (Gallus gallus)
    Aves HARS21 histidyl-tRNA synthetase 2, mitochondrial (putative) 71.13(n)
    71.65(a)
      768802  XM_001231931.2  XP_001231932.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    64(a)
    1 → many
    4(77682055-77744183)
    zebrafish
    (Danio rerio)
    Actinopterygii hars6
    histidyl-tRNA synthetase
    61(a)
    1 → many
    14(7345664-7364109)
    fruit fly
    (Drosophila melanogaster)
    Insecta Aats-his6
    Histidyl-tRNA synthetase
    47(a)
    1 → many
    X(18409432-18414478)
    worm
    (Caenorhabditis elegans)
    Secernentea hars-16
    Histidine--tRNA ligase
    46(a)
    1 → many
    IV(10858955-10861296)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes HTS16
    Cytoplasmic and mitochondrial histidine tRNA synth...
    40(a)
    1 → many
    XVI(637379-639019)


    ENSEMBL Gene Tree for HARS2 (if available)
    TreeFam Gene Tree for HARS2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HARS2 gene
    HARS2  
    2 SIMAP similar genes for HARS2 using alignment to 9 protein entries:     SYHM_HUMAN (see all proteins):
    HRS    HARS

    HARS2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/142 SNPs in HARS2 are shown (see all 142)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0695334
    Perrault syndrome 2 (PRLTS2)4--see VAR_0695332 V L mis40--------
    VAR_0695324
    Perrault syndrome 2 (PRLTS2)4--see VAR_0695322 L V mis40--------
    rs1902944941,2
    --140073321(+) CTCTCC/TGACCC 1 -- int10--------
    rs1831494371,2
    --140073370(+) CTATTC/TTTGAG 1 -- int10--------
    rs1876346891,2
    --140073381(+) ATACTA/GGGTGC 1 -- int10--------
    rs1500029591,2
    --140073383(+) ACTAGA/GTGCGG 1 -- int10--------
    rs1927008461,2
    --140073386(+) AGGTGC/TGGCTC 1 -- int10--------
    rs125134901,2
    C,F,H--140073479(+) CTTATT/GTTTTG 1 -- int16Minor allele frequency- G:0.01NS EA NA EU 1841
    rs2016856811,2
    C--140073504(+) ATGGCC/TGCTTT 1 -- int10--------
    rs1840909191,2
    C--140073558(+) GTGAGA/GGAGAA 2 R syn10--------

    HapMap Linkage Disequilibrium report for HARS2 (140071011 - 140078890 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for HARS2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv830508CNV Loss17160897


    Human Gene Mutation Database (HGMD): HARS2
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing HARS2
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600783    OMIM disorders: --

    UniProtKB/Swiss-Prot: SYHM_HUMAN, P49590
  • Perrault syndrome 2 (PRLTS2) [MIM:614926]: A sex-influenced disorder characterized by sensorineural
    deafness in both males and females and ovarian dysgenesis in females. Affected females have primary amenorrhea,
    streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 4 diseases for HARS2:    About MalaCards
    sensorineural hearing loss    pneumonia    tuberculosis    schizophrenia


    HARS2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): HARS2
    Human Genome Epidemiology (HuGE) Navigator: HARS2 (2 documents)

    Export disorders for HARS2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for HARS2 gene, integrated from 9 sources (see all 26):
    (articles sorted by number of sources associating them with HARS2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in mitochondrial histidyl tRNA synthetase H ARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndro me. (PubMed id 21464306)1, 2, 3 Pierce S.B....King M.C. (2011)
    2. A novel gene oriented in a head-to-head configuration with the human histidyl-tRNA synthetase (HRS) gene encodes an mRNA that predicts a polypeptide homologous to HRS. (PubMed id 7755634)1, 2, 3 O'Hanlon T.P.... Miller F.W. (1995)
    3. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. Global landscape of HIV-human protein complexes. (PubMed id 22190034)1 Jager S....Krogan N.J. (2012)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    8. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    9. Toward an understanding of the protein interaction net work of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (2011)
    10. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23438 HGNC: 4817 AceView: HARSLandZMAT2 Ensembl:ENSG00000112855 euGenes: HUgn23438
    ECgene: HARS2 Kegg: 23438 H-InvDB: HARS2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for HARS2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for HARS2 gene:
    Search GeneIP for patents involving HARS2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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