HARS2 Gene Summary [Human]

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]

Details

Type
Nonsense Mediated Decay
Official Symbol
HARS2
Official Name
histidyl-tRNA synthetase 2, mitochondrial [Source:HGNC Symbol;Acc:HGNC:4817]
Ensembl ID
ENSG00000112855
Bio databases IDs NCBI: 23438 Ensembl: ENSG00000112855
Aliases histidyl-tRNA synthetase 2, mitochondrial, histidine tRNA ligase 2, mitochondrial (putative)
Synonyms 4631412B19Rik, DUE-B, Hars2l, HARSL, HARSR, HisRS, histidyl-tRNA synthetase 2, histidyl-tRNA synthetase 2, mitochondrial, HO3, PRLTS2, RGD1308426, Zmat2
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human HARS2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • histidine-tRNA ligase
  • HGTP_anticodon
  • class_II_aaRS-like_core
  • Anticodon binding domain
  • histidyl-tRNA synthetase
  • ATP phosphoribosyltransferase, regulatory subunit
  • enzyme
  • protein binding
  • identical protein binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • Perrault syndrome type 2
  • gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
  • gastric adenocarcinoma
  • gastric epithelial cancer
  • sensorineural hearing loss
regulated by
  • Influenza A virus (A/Bangkok/RX73(H3N2))
regulates
  • tRNA-His

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • Mitochondria
  • mitochondrial matrix

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human HARS2 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • tRNA aminoacylation for protein translation
  • histidyl-tRNA aminoacylation
  • translation

Cellular Component

Where in the cell the gene product is active
  • mitochondrial matrix
  • mitochondrion
  • cytosol

Molecular Function

What the gene product does at the molecular level
  • histidine-tRNA ligase activity
  • ATP binding
  • identical protein binding
  • RNA binding
  • protein binding

Gene-Specific Assays for Results You Can Trust

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