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HARS2

Synonyms
HARSL, HARSR, HO3, HisRS, PRLTS2
External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
87
Likely pathogenic
0
VUS
2,458
Likely benign
1,041
Benign
98

Patient phenotypes

Proportions of phenotypes among 87 patients carrying pathogenic or likely pathogenic variants on HARS2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
42.5%
Abnormality of the cardiovascular system
39.1%
Abnormality of the genitourinary system
13.8%
Abnormality of the musculoskeletal system
12.6%
Abnormality of the eye
11.5%
Abnormality of the ear
10.3%
Growth abnormality
10.3%
Abnormality of head or neck
9.2%
Abnormality of the digestive system
5.7%
Abnormality of the immune system
3.4%
Abnormality of the endocrine system
2.3%
Abnormality of the integument
2.3%
Abnormality of limbs
1.1%
Abnormality of the breast
1.1%
Abnormality of the respiratory system
1.1%
Constitutional symptom
1.1%
Neoplasm
1.1%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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