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Aliases for HARS2 Gene

Aliases for HARS2 Gene

  • Histidyl-TRNA Synthetase 2, Mitochondrial 2 3 5
  • Histidine TRNA Ligase 2, Mitochondrial (Putative) 2 3
  • EC 6.1.1.21 4 61
  • HisRS 3 4
  • HARSL 3 4
  • HARSR 3 4
  • HO3 3 4
  • Histidyl-TRNA Synthetase 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
  • Histidyl-TRNA Synthetase 4
  • Histidine Translase 3
  • HARS-Related 3
  • EC 6.1.1 61
  • PRLTS2 3

External Ids for HARS2 Gene

Previous HGNC Symbols for HARS2 Gene

  • HARSL

Previous GeneCards Identifiers for HARS2 Gene

  • GC20P018556
  • GC20P018563
  • GC20P018516
  • GC05P140053
  • GC05P135216
  • GC05P140088
  • GC05P140095
  • GC05P140110
  • GC05P141419
  • GC05P141563
  • GC05P141665
  • GC05P141766
  • GC05P141866

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 poly(A) RNA binding and aminoacyl-tRNA ligase activity. An important paralog of this gene is HARS.

Gene Wiki entry for HARS2 Gene

No data available for CIViC summary , 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

Enhancers for HARS2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05G140573 0.9 Ensembl ENCODE 4.3 -117.1 -117062 1.3 MAX RAD21 FOXA1 NR2F2 GABPA YY1 TEAD3 JUND ZNF316 ATF3 EIF4EBP3 WDR55 DND1 NDUFA2 IK HARS2 GC05P142006 APBB3
GH05G140257 2.1 FANTOM5 Ensembl ENCODE dbSUPER 1.2 -431.3 -431289 5.5 CREB3L1 AGO1 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 NFYC PFDN1 HBEGF APBB3 CD14 ENSG00000253965 SLC4A9 TMCO6 SRA1 CYSTM1 ANKHD1
GH05G140553 1.2 FANTOM5 ENCODE 1.7 -137.0 -137000 1.7 HDAC1 TCF12 EGR1 SCRT2 FOS CREM ZBTB2 CEBPB ZEB2 MEF2D SRA1 PCDHA9 ANKHD1 IK APBB3 HARS2 CD14 ZMAT2 EIF4EBP3
GH05G140690 1.1 ENCODE 0.7 +0.1 123 2.4 HDGF PKNOX1 CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 SRA1 PCDHA4 TMCO6 CD14 HARS2 HARS
GH05G140608 0.3 FANTOM5 1.4 -82.5 -82515 0.1 CD14 APBB3 IK SLC35A4 EIF4EBP3 NDUFA2 ANKHD1 SRA1 HBEGF HARS2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HARS2 on UCSC Golden Path with GeneCards custom track

Promoters for HARS2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000187817 274 1801 HDGF PKNOX1 CREB3L1 ARNT WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2

Genomic Location for HARS2 Gene

Chromosome:
5
Start:
140,691,426 bp from pter
End:
140,699,318 bp from pter
Size:
7,893 bases
Orientation:
Plus strand

Genomic View for HARS2 Gene

Genes around HARS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HARS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    P49590-SYHM_HUMAN
    Recommended name:
    Probable histidine--tRNA ligase, mitochondrial
    Protein Accession:
    P49590
    Secondary Accessions:
    • B4DDY8

    Protein attributes for HARS2 Gene

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

    Alternative splice isoforms for HARS2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HARS2 Gene

Selected DME Specific Peptides for HARS2 Gene

P49590:
  • GLGDLKLLFEYL
  • LGDFLIKV
  • RSVASREEV
  • FAVCGVP
  • YKNNPKLL
  • GLDYYTG
  • VAAGGRYD
  • KGLAPEVADRIGD
  • VPCVGLSIGVERIF
  • RTTETQV
  • VGKVWRRESP
  • DLTVPFAR
  • LRYDLTVPF
  • CFKRHGA
  • GGRYDGL
  • IMCEILS

Post-translational modifications for HARS2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for HARS2 Gene

Gene Families for HARS2 Gene

Protein Domains for HARS2 Gene

Graphical View of Domain Structure for InterPro Entry

P49590

UniProtKB/Swiss-Prot:

SYHM_HUMAN :
  • Belongs to the class-II aminoacyl-tRNA synthetase family.
Family:
  • 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:0003723 RNA binding IDA 22681889
GO:0004812 aminoacyl-tRNA ligase activity IEA --
GO:0004821 histidine-tRNA ligase activity TAS --
GO:0005515 protein binding IPI 25416956
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with HARS2: view
genes like me logo Genes that share phenotypes with HARS2: view

Human Phenotype Ontology for HARS2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for HARS2

CRISPR Products

miRNA for HARS2 Gene

miRTarBase miRNAs that target HARS2

Inhibitory RNA Products

Clone Products

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

Localization for HARS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HARS2 Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HARS2 gene
Compartment Confidence
mitochondrion 5
cytosol 3
nucleus 1

Gene Ontology (GO) - Cellular Components for HARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IDA 21464306
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with HARS2: view

Pathways & Interactions 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 IDA 21464306
GO:0032543 NOT mitochondrial translation IBA --
genes like me logo Genes that share ontologies with HARS2: view

No data available for SIGNOR curated interactions for HARS2 Gene

Drugs & Compounds for HARS2 Gene

(4) Drugs for HARS2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
L-Histidine Approved Nutra 0

(2) Additional Compounds for HARS2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
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:

CRISPR Products

Inhibitory RNA Products

Clone 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
HARS2
ECgene alternative splicing isoforms for
HARS2

Expression for HARS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HARS2 Gene

Protein differential expression in normal tissues from HIPED for HARS2 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HARS2 Gene



Protein tissue co-expression partners for HARS2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HARS2 Gene:

HARS2

SOURCE GeneReport for Unigene cluster for HARS2 Gene:

Hs.432560

mRNA Expression by UniProt/SwissProt for HARS2 Gene:

P49590-SYHM_HUMAN
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.

Evidence on tissue expression from TISSUES for HARS2 Gene

  • Nervous system(4.8)
  • Liver(4.4)
  • Skin(4.4)
  • Muscle(2.2)
  • Kidney(2)
  • Spleen(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HARS2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • jaw
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • outer ear
  • pituitary gland
  • skull
Thorax:
  • breast
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with HARS2: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia HARS2 34 35
  • 99.8 (n)
cow
(Bos Taurus)
Mammalia HARS2 34 35
  • 89.66 (n)
dog
(Canis familiaris)
Mammalia HARS2 34 35
  • 88.45 (n)
rat
(Rattus norvegicus)
Mammalia Hars2 34
  • 85.24 (n)
mouse
(Mus musculus)
Mammalia Hars2 34 16 35
  • 84.99 (n)
oppossum
(Monodelphis domestica)
Mammalia HARS2 35
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HARS2 35
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves HARS2 34
  • 71.13 (n)
HARS 35
  • 63 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 65 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488813 34
  • 71.65 (n)
zebrafish
(Danio rerio)
Actinopterygii hars 35
  • 62 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Aats-his 35
  • 47 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hars-1 35
  • 46 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HTS1 35
  • 40 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8844 35
  • 59 (a)
OneToMany
Species where no ortholog for HARS2 was found in the sources mined by GeneCards:
  • 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

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

Paralogs for HARS2 Gene

Paralogs for HARS2 Gene

(2) 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
rs376177973 Likely pathogenic, Perrault syndrome 2 (PRLTS2) [MIM:614926] 140,697,311(+) GGCTG(A/G/T)TGGGC reference, missense
rs397515410 other, Perrault syndrome 2 (PRLTS2) [MIM:614926] 140,695,810(+) AAATC(C/G)TAAGT reference, missense, utr-variant-5-prime
rs863224040 Pathogenic 140,695,846(+) TTAAG(A/G)TGAGG splice-donor-variant
rs140540222 Likely pathogenic 140,695,556(+) TGAAA(C/T)GTTAT intron-variant, reference, missense, utr-variant-5-prime
rs201392711 Likely pathogenic 140,693,654(+) TTATC(A/G)AGACC intron-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
nsv830508 CNV loss 17160897

Variation tolerance for HARS2 Gene

Residual Variation Intolerance Score: 27.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.38; 27.23% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HARS2 Gene

Human Gene Mutation Database (HGMD)
HARS2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HARS2

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

Disorders for HARS2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for HARS2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
perrault syndrome 2
  • prlts2
perrault syndrome
  • gonadal dysgenesis, xx type
- elite association - COSMIC cancer census association via MalaCards
Search HARS2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SYHM_HUMAN
  • 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)
HARS2
Human Genome Epidemiology (HuGE) Navigator
HARS2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HARS2
genes like me logo Genes that share disorders with HARS2: view

No data available for 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 64
  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 64
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 64
  5. 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 64

Products for HARS2 Gene

Sources for HARS2 Gene

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