• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
RARS2 (HGNC:21406) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
arginyl-tRNA synthetase 2, mitochondrial
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
RARSL
Alias symbols
MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2
%HI
21.71(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.92(Read more about gnomAD LOEUF score)
Cytoband
6q15
Genomic Coordinates
GRCh37/hg19: chr6:88223656-88299705 NCBI Ensembl UCSC
GRCh38/hg38: chr6:87513938-87589987 NCBI Ensembl UCSC
MANE Select Transcript
NM_020320.5 ENST00000369536.10 (Read more about MANE Select)
Function
Catalyzes the attachment of arginine to tRNA(Arg) in a two- step reaction: arginine is first activated by ATP to form Arg-AMP and then transferred to the acceptor end of tRNA(Arg). {ECO:0000269|PubMed:17847012}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-36596
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
04/09/2015

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • pontocerebellar hypoplasia type 6 Monarch
HI Evidence Comments:
Variants in RARS2 have been identified in individuals with pontocerebellar hypoplasia type 6, an autosomal recessive condition.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000006.11) (NC_000006.12)