HARS2 Chromosome 5
Histidyl-tRNA synthetase 2, mitochondrial
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What This Gene Does
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]
Gene Info
Gene Group
Aminoacyl tRNA synthetases, Class II
Locus Type
gene with protein product
Location
5q31.3
Ensembl
ENSG00000112855
Associated Conditions (5)
Perrault syndrome 2
Sensorineural hearing loss disorder
Perrault syndrome
Inborn genetic diseases
Gastric cancer
Key Variants
RS140540222
Conflicting classifications of pathogenicity
Perrault syndrome 2, Perrault syndrome 2
Health Risk
RS145104612
Conflicting classifications of pathogenicity
Health Risk
RS146046742
Conflicting classifications of pathogenicity
Perrault syndrome 2, Perrault syndrome 2
Health Risk
RS186043734
Conflicting classifications of pathogenicity
Health Risk
RS200089613
Conflicting classifications of pathogenicity
Sensorineural hearing loss disorder, Perrault syndrome, Sensorineural hearing loss disorder
Health Risk
RS201392711
Conflicting classifications of pathogenicity
Perrault syndrome 2, Perrault syndrome 2
Health Risk
RS368989873
Conflicting classifications of pathogenicity
Health Risk
RS370053420
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS372828105
Conflicting classifications of pathogenicity
Health Risk
RS761425145
Conflicting classifications of pathogenicity
Perrault syndrome 2, Perrault syndrome 2
Health Risk
RS762549394
Conflicting classifications of pathogenicity
Health Risk
RS763261995
Conflicting classifications of pathogenicity
Perrault syndrome 2, Perrault syndrome 2
Health Risk
All Variants (32)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140540222 | Health Risk | Conflicting classifications of pathogenicity | Perrault syndrome 2, Perrault syndrome 2 |
| RS145104612 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS146046742 | Health Risk | Conflicting classifications of pathogenicity | Perrault syndrome 2, Perrault syndrome 2 |
| RS186043734 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200089613 | Health Risk | Conflicting classifications of pathogenicity | Sensorineural hearing loss disorder, Perrault syndrome, Sensorineural hearing loss disorder |
| RS201392711 | Health Risk | Conflicting classifications of pathogenicity | Perrault syndrome 2, Perrault syndrome 2 |
| RS368989873 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS370053420 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS372828105 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS761425145 | Health Risk | Conflicting classifications of pathogenicity | Perrault syndrome 2, Perrault syndrome 2 |
| RS762549394 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS763261995 | Health Risk | Conflicting classifications of pathogenicity | Perrault syndrome 2, Perrault syndrome 2 |
| RS771275914 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS781549967 | Health Risk | Conflicting classifications of pathogenicity | Perrault syndrome 2, Perrault syndrome 2 |
| RS1562047621 | Health Risk | Likely pathogenic | Perrault syndrome 2, Perrault syndrome 2 |
| RS1581536078 | Health Risk | Likely pathogenic | Sensorineural hearing loss disorder, Sensorineural hearing loss disorder |
| RS1581550832 | Health Risk | Likely pathogenic | Sensorineural hearing loss disorder, Sensorineural hearing loss disorder |
| RS2149852789 | Health Risk | Likely pathogenic | Perrault syndrome 2, Perrault syndrome 2 |
| RS397515410 | Health Risk | Likely pathogenic | Perrault syndrome 2, Perrault syndrome, Perrault syndrome 2 |
| RS563477361 | Health Risk | Likely pathogenic | Perrault syndrome 2, Perrault syndrome 2 |
| RS746757469 | Health Risk | Likely pathogenic | — |
| RS748402163 | Health Risk | Likely pathogenic | Perrault syndrome 2, Perrault syndrome 2 |
| RS754069818 | Health Risk | Likely pathogenic | Perrault syndrome 2, Perrault syndrome 2 |
| RS778499309 | Health Risk | Likely pathogenic | Perrault syndrome 2, Perrault syndrome 2 |
| RS863224040 | Health Risk | Likely pathogenic | — |
| RS1229581230 | Health Risk | Pathogenic | Perrault syndrome 2, Perrault syndrome 2 |
| RS758655119 | Health Risk | Pathogenic | — |
| RS778165592 | Health Risk | Pathogenic | — |
| RS143687204 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS376177973 | Health Risk | Pathogenic/Likely pathogenic | Perrault syndrome 2, Perrault syndrome, Perrault syndrome 2 |
| RS376181876 | Health Risk | Pathogenic/Likely pathogenic | Perrault syndrome 2, Gastric cancer, Perrault syndrome 2 |
| RS761489812 | Health Risk | Pathogenic/Likely pathogenic | — |