Aspartate–tRNA ligase, mitochondrial

DARS2
Identifiers
Aliases	DARS2, ASPRS, LBSL, MT-ASPRS, aspartyl-tRNA synthetase 2, mitochondrial, mtAspRS
External IDs	OMIM: 610956; MGI: 2442510; GeneCards: DARS2
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4AH6
Enzyme activity
Gene location (Human)
Chr.	Chromosome 1 (human)
End	173,858,808 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	160,898,228 bp
RNA expression pattern
	Top expressed in
	gonad; ; rectum; ; right adrenal gland; ; ventricular zone; ; mucosa of transverse colon; ; right adrenal cortex; ; islet of Langerhans; ; testicle; ; left adrenal gland; ; left adrenal cortex;
	Top expressed in
	epiblast; ; ventricular zone; ; right kidney; ; primitive streak; ; proximal tubule; ; tail of embryo; ; blastocyst; ; embryo; ; Paneth cell; ; hand;
	More reference expression data
	n/a
Gene ontology
Molecular function	aminoacyl-tRNA ligase activity; nucleotide binding; tRNA binding; ligase activity; aspartate-tRNA(Asn) ligase activity; protein binding; ATP binding; protein homodimerization activity; nucleic acid binding; aspartate-tRNA ligase activity;
Cellular component	cytoplasm; mitochondrial matrix; mitochondrion; nucleus;
Biological process	tRNA aminoacylation; tRNA aminoacylation for protein translation; protein biosynthesis; mitochondrial asparaginyl-tRNA aminoacylation;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	55157
	226539
	ENSG00000117593
	ENSMUSG00000026709
	Q6PI48
	Q8BIP0
	NM_018122; NM_001365212; NM_001365213
	NM_172644
	NP_060592; NP_001352141; NP_001352142; NP_060592.2
	NP_766232
	Wikidata
View/Edit Human	View/Edit Mouse

Aspartate–tRNA ligase, mitochondrial is an enzyme that in humans is encoded by the gene DARS2. This protein is located in mitochondria where it attaches the amino acid aspartate to its matching transfer RNA, tRNA^Asp, as part of RNA-to-protein translation.

Gene

The DARS2 gene is located on the long arm (q) of chromosome 1 on position 25.1, from base pair from base pair 173,821,286 to base pair 173,861,933.

Clinical significance

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a rare genetic disorder caused by mutations in DARS2 which causes brain and spinal cord damage. This disorder is characterized by slowly progressive cerebellar ataxia and spasticity with dorsal column dysfunction (decreased position and vibration sense) in most individuals.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000117593 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000026709 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "DARS2 Gene - GeneCards | SYDM Protein | SYDM Antibody". GeneCards Human Gene Database. Archived from the original on 2022-06-21. Retrieved 2025-05-09.
↑ Steenari MR, Barrick R, Simon MT, Chang R, Eftekharian SS, Stover A, et al. (2024-03-01). "Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novel DARS2 mutation". Molecular Genetics and Metabolism Reports. 38 101025. doi:10.1016/j.ymgmr.2023.101025. ISSN 2214-4269. PMC 10731372. PMID 38125072.
↑ "Genome Data Viewer - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2025-05-09.
↑ "Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) | Kennedy Krieger Institute". www.kennedykrieger.org. Retrieved 2025-05-09.
↑ Engelen M, Abbink TE, Salomons GS, van der Knaap MS (1993). "Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation". In Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A (eds.). GeneReviews®. Seattle (WA): University of Washington, Seattle. PMID 20506600. Retrieved 2025-05-09.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000117593 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000026709 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[5] "DARS2 Gene - GeneCards | SYDM Protein | SYDM Antibody". GeneCards Human Gene Database. Archived from the original on 2022-06-21. Retrieved 2025-05-09.

[6] Steenari MR, Barrick R, Simon MT, Chang R, Eftekharian SS, Stover A, et al. (2024-03-01). "Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novel DARS2 mutation". Molecular Genetics and Metabolism Reports. 38 101025. doi:10.1016/j.ymgmr.2023.101025. ISSN 2214-4269. PMC 10731372. PMID 38125072.

[7] "Genome Data Viewer - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2025-05-09.

[8] "Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) | Kennedy Krieger Institute". www.kennedykrieger.org. Retrieved 2025-05-09.

[9] Engelen M, Abbink TE, Salomons GS, van der Knaap MS (1993). "Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation". In Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A (eds.). GeneReviews®. Seattle (WA): University of Washington, Seattle. PMID 20506600. Retrieved 2025-05-09.

Aspartate–tRNA ligase, mitochondrial

Gene

Clinical significance

See also

References