Identity
HGNC
LOCATION
5q31.3
LOCUSID
ALIAS
HARSL,HARSR,HO3,HisRS,PRLTS2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 23438
MIM: 600783
HGNC: 4817
Ensembl: ENSG00000112855
Variants:
dbSNP: 23438
ClinVar: 23438
TCGA: ENSG00000112855
COSMIC: HARS2
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38186093 | 2023 | [Analysis of perrault syndrome caused by pathogenic variants in LARS2 and HARS2 genes]. | 0 |
| 38186093 | 2023 | [Analysis of perrault syndrome caused by pathogenic variants in LARS2 and HARS2 genes]. | 0 |
| 31449985 | 2020 | Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome. | 10 |
| 31819004 | 2020 | Overexpression of mitochondrial histidyl-tRNA synthetase restores mitochondrial dysfunction caused by a deafness-associated tRNA(His) mutation. | 15 |
| 31827252 | 2020 | A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families. | 6 |
| 33228777 | 2020 | Two novel likely pathogenic variants of HARS2 identified in a Chinese family with sensorineural hearing loss. | 4 |
| 31449985 | 2020 | Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome. | 10 |
| 31819004 | 2020 | Overexpression of mitochondrial histidyl-tRNA synthetase restores mitochondrial dysfunction caused by a deafness-associated tRNA(His) mutation. | 15 |
| 31827252 | 2020 | A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families. | 6 |
| 33228777 | 2020 | Two novel likely pathogenic variants of HARS2 identified in a Chinese family with sensorineural hearing loss. | 4 |
| 21464306 | 2011 | Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. | 131 |
| 21464306 | 2011 | Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. | 131 |
| 20381070 | 2010 | Sex-specific proteome differences in the anterior cingulate cortex of schizophrenia. | 29 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
| 20381070 | 2010 | Sex-specific proteome differences in the anterior cingulate cortex of schizophrenia. | 29 |
Citation
Dessen P
HARS2 (histidyl-tRNA synthetase 2, mitochondrial)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54352/hars2-(histidyl-trna-synthetase-2-mitochondrial)
