Human Gene HARS2 (ENST00000230771.9) from GENCODE V44
Description: Homo sapiens histidyl-tRNA synthetase 2, mitochondrial (HARS2), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_012208) RefSeq Summary (NM_012208): 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]. Gencode Transcript: ENST00000230771.9 Gencode Gene: ENSG00000112855.17 Transcript (Including UTRs) Position: hg38 chr5:140,691,455-140,699,305 Size: 7,851 Total Exon Count: 13 Strand: + Coding Region Position: hg38 chr5:140,691,649-140,698,552 Size: 6,904 Coding Exon Count: 13
ID:SYHM_HUMAN DESCRIPTION: RecName: Full=Probable histidine--tRNA ligase, mitochondrial; EC=6.1.1.21; AltName: Full=Histidine--tRNA ligase-like; AltName: Full=Histidyl-tRNA synthetase; Short=HisRS; Flags: Precursor; CATALYTIC ACTIVITY: ATP + L-histidine + tRNA(His) = AMP + diphosphate + L-histidyl-tRNA(His). SUBCELLULAR LOCATION: Mitochondrion matrix (By similarity). 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. SIMILARITY: Belongs to the class-II aminoacyl-tRNA synthetase family.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF03129 - Anticodon binding domain PF00587 - tRNA synthetase class II core domain (G, H, P, S and T)
ModBase Predicted Comparative 3D Structure on P49590
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
