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Aliases for HARS2 Gene

Aliases for HARS2 Gene

  • Histidyl-TRNA Synthetase 2, Mitochondrial 2 3
  • HARSL 3 4 6
  • HARSR 3 4 6
  • HO3 3 4 6
  • EC 4 63
  • PRLTS2 3 6
  • HisRS 3 4
  • Histidyl-TRNA Synthetase 2, Mitochondrial (Putative) 3
  • Histidine TRNA Ligase 2, Mitochondrial (Putative) 3
  • Probable Histidyl-TRNA Synthetase, Mitochondrial 3
  • Probable Histidine--TRNA Ligase, Mitochondrial 3
  • Histidyl-TRNA Synthetase-Like 2
  • Histidine-TRNA Ligase Homolog 3
  • Histidine--TRNA Ligase-Like 4
  • Mitochondrial (Putative) 2
  • Histidyl-TRNA Synthetase 4
  • Histidine TRNA Ligase 2 2
  • Histidine Translase 3
  • HARS-Related 3
  • EC 6.1.1 63

External Ids for HARS2 Gene

Previous HGNC Symbols for HARS2 Gene


Previous GeneCards Identifiers for HARS2 Gene

  • GC20P018556
  • GC20P018563
  • GC20P018516
  • GC05P140053
  • GC05P135216
  • GC05P140088
  • GC05P140095
  • GC05P140110

Summaries for HARS2 Gene

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 perrault syndrome 2 and perrault syndrome. Among its related pathways are Gene Expression and tRNA Aminoacylation. GO annotations related to this gene include histidine-tRNA ligase activity. An important paralog of this gene is HARS.

Gene Wiki entry for HARS2 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HARS2 Gene

Genomics for HARS2 Gene

Regulatory Elements for HARS2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for HARS2 Gene

140,691,426 bp from pter
140,699,318 bp from pter
7,893 bases
Plus strand

Genomic View for HARS2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HARS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HARS2 Gene

Proteins for HARS2 Gene

  • Protein details for HARS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Probable histidine--tRNA ligase, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • B4DDY8

    Protein attributes for HARS2 Gene

    506 amino acids
    Molecular mass:
    56888 Da
    Quaternary structure:
    • Homodimer.

    Alternative splice isoforms for HARS2 Gene


neXtProt entry for HARS2 Gene

Proteomics data for HARS2 Gene at MOPED

Post-translational modifications for HARS2 Gene

  • Ubiquitination at Lys294 and Lys377
  • Modification sites at PhosphoSitePlus

Other Protein References for HARS2 Gene

Antibody Products

Domains for HARS2 Gene

Gene Families for HARS2 Gene

  • aaRS2 :Aminoacyl tRNA synthetases / Class II

Protein Domains for HARS2 Gene

Graphical View of Domain Structure for InterPro Entry



  • P49590
  • Belongs to the class-II aminoacyl-tRNA synthetase family.
genes like me logo Genes that share domains with HARS2: view

Function for HARS2 Gene

Molecular function for HARS2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + L-histidine + tRNA(His) = AMP + diphosphate + L-histidyl-tRNA(His)

Enzyme Numbers (IUBMB) for HARS2 Gene

Gene Ontology (GO) - Molecular Function for HARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding --
GO:0004812 aminoacyl-tRNA ligase activity --
GO:0004821 histidine-tRNA ligase activity NAS 7755634
GO:0005515 protein binding IPI 25416956
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with HARS2: view

Animal Model Products

miRNA for HARS2 Gene

miRTarBase miRNAs that target HARS2

No data available for Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for HARS2 Gene

Localization for HARS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HARS2 Gene

Mitochondrion matrix.

Subcellular locations from

Jensen Localization Image for HARS2 Gene COMPARTMENTS Subcellular localization image for HARS2 gene
Compartment Confidence
mitochondrion 4
cytosol 1

Gene Ontology (GO) - Cellular Components for HARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005739 mitochondrion --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with HARS2: view

Pathways for HARS2 Gene

genes like me logo Genes that share pathways with HARS2: view

Pathways by source for HARS2 Gene

1 KEGG pathway for HARS2 Gene

Gene Ontology (GO) - Biological Process for HARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation NAS 7755634
GO:0006418 tRNA aminoacylation for protein translation TAS --
GO:0006427 histidyl-tRNA aminoacylation IEA --
GO:0008152 metabolic process --
GO:0010467 gene expression TAS --
genes like me logo Genes that share ontologies with HARS2: view

Compounds for HARS2 Gene

(5) HMDB Compounds for HARS2 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine monophosphate
  • 5'-AMP
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
  • (S)-1H-Imidazole-4-alanine
Phosphoric acid
  • acide phosphorique (FRENCH)
  • (4-)Diphosphoric acid ion

(1) Novoseek inferred chemical compound relationships for HARS2 Gene

Compound -log(P) Hits PubMed IDs
trna 62.7 3
genes like me logo Genes that share compounds with HARS2: view

Transcripts for HARS2 Gene

Unigene Clusters for HARS2 Gene

Histidyl-tRNA synthetase 2, mitochondrial:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HARS2

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HARS2 Gene

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: - - - - -
SP6: -
SP7: - - - - - -
SP8: - - -
SP9: - -
SP10: - -

Relevant External Links for HARS2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for HARS2 Gene

mRNA expression in normal human tissues for HARS2 Gene

Protein differential expression in normal tissues for HARS2 Gene

This gene is overexpressed in Heart (10.8) and Lung (8.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for HARS2 Gene

SOURCE GeneReport for Unigene cluster for HARS2 Gene Hs.432560

mRNA Expression by UniProt/SwissProt for HARS2 Gene

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
genes like me logo Genes that share expressions with HARS2: view

Expression partners for HARS2 Gene

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for HARS2 Gene

Orthologs for HARS2 Gene

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

Orthologs for HARS2 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia HARS2 35
  • 89.66 (n)
  • 88.93 (a)
HARS2 36
  • 89 (a)
(Canis familiaris)
Mammalia HARS2 35
  • 88.45 (n)
  • 87.72 (a)
HARS2 36
  • 88 (a)
(Mus musculus)
Mammalia Hars2 35
  • 84.99 (n)
  • 84.52 (a)
Hars2 16
Hars2 36
  • 84 (a)
(Pan troglodytes)
Mammalia HARS2 35
  • 99.8 (n)
  • 100 (a)
HARS2 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Hars2 35
  • 85.24 (n)
  • 83.79 (a)
(Monodelphis domestica)
Mammalia HARS2 36
  • 77 (a)
(Ornithorhynchus anatinus)
Mammalia HARS2 36
  • 66 (a)
(Gallus gallus)
Aves HARS2 35
  • 71.13 (n)
  • 71.65 (a)
  • 63 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 65 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488813 35
  • 71.65 (n)
  • 73.75 (a)
(Danio rerio)
Actinopterygii hars 36
  • 62 (a)
fruit fly
(Drosophila melanogaster)
Insecta Aats-his 36
  • 47 (a)
(Caenorhabditis elegans)
Secernentea hars-1 36
  • 46 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HTS1 36
  • 40 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8844 36
  • 59 (a)
Species with no ortholog for HARS2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HARS2 Gene

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

Paralogs for HARS2 Gene

Paralogs for HARS2 Gene

Selected SIMAP similar genes for HARS2 Gene using alignment to 9 proteins:

genes like me logo Genes that share paralogs with HARS2: view

Variants for HARS2 Gene

Sequence variations from dbSNP and Humsavar for HARS2 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs2530234 -- 140,698,114(-) AGAAA(C/T)ACTTC intron-variant
rs6880619 -- 140,696,466(+) CTTTT(G/T)CAGTT intron-variant
rs6883035 Benign 140,694,298(+) GTACT(A/G)GAGCC intron-variant
rs7714296 -- 140,694,957(+) aaaaa(A/T)ttttt intron-variant
rs7715879 -- 140,698,391(+) TATAA(A/G)TAATG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HARS2 Gene

Variant ID Type Subtype PubMed ID
nsv830508 CNV Loss 17160897

Relevant External Links for HARS2 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HARS2 Gene

Disorders for HARS2 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for HARS2 Gene in MalaCards »

(3) Diseases for HARS2 Gene including...

(1) OMIM Diseases for HARS2 Gene (600783)


  • 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. {ECO:0000269 PubMed:21464306}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for HARS2

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with HARS2: view

No data available for University of Copenhagen DISEASES , Novoseek inferred disease relationships and Genatlas for HARS2 Gene

Publications for HARS2 Gene

  1. Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. (PMID: 21464306) Pierce S.B. … King M.C. (Proc. Natl. Acad. Sci. U.S.A. 2011) 2 3 4
  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. (PMID: 7755634) O'Hanlon T.P. … Miller F.W. (Biochem. Biophys. Res. Commun. 1995) 2 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 48

Products for HARS2 Gene

Sources for HARS2 Gene

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