DARS2
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
DARS2 (HGNC:25538) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
aspartyl-tRNA synthetase 2, mitochondrial
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
FLJ10514, mtAspRS
%HI
28.68(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
1q25.1
Genomic Coordinates
GRCh37/hg19: chr1:173793811-173827684 NCBI Ensembl UCSC
GRCh38/hg38: chr1:173824673-173858546 NCBI Ensembl UCSC
MANE Select Transcript
NM_018122.5 ENST00000649689.2 (Read more about MANE Select)
Function
Catalyzes the attachment of aspartate to tRNA(Asp) in a two- step reaction: aspartate is first activated by ATP to form Asp-AMP and then transferred to the acceptor end of tRNA(Asp). {ECO:0000269|PubMed:15779907, ECO:0000269|PubMed:23275545}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-24038
ClinGen Curation ID:
CCID:006970
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome Monarch

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000001.10) (NC_000001.11)