DARS2

DARS2
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4AH6
Identifiers
Aliases	DARS2 , ASPRS, LBSL, MT-ASPRS, aspartyl-tRNA synthetase 2, mitochondrial, mtAspRS
External IDs	OMIM: 610956; MGI: 2442510; HomoloGene: 7093; GeneCards: DARS2; OMA:DARS2 - orthologs
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
	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

Last updated May 10, 2025

Aspartyl-tRNA Synthetase 2, Mitochondrial is an enzyme which is encoded by the gene DARS2.^[5]

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.^[6]

Function

This protein is located in mitochondria which aminoacylates aspartate to its matching tRNA.^[7]

Clinical significance

Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL)

LBSL is a rare genetic disorder which causes brain and spinal cord damage.^[8] This disorder is characterized by slowly progressive cerebellar ataxia and spasticity with dorsal column dysfunction (decreased position and vibration sense) in most individuals.^[9]

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.
↑ GeneCards Human Gene Database. "DARS2 Gene - GeneCards | SYDM Protein | SYDM Antibody". www.genecards.org. Archived from the original on 2022-06-21. Retrieved 2025-05-09.
↑ "Genome Data Viewer - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2025-05-09.
↑ Huang, Wei-Lin; Steenari, Maija R.; Barrick, Rebekah; Simon, Mariella T.; Chang, Richard; Eftekharian, Shaya S.; Stover, Alexander; Schwartz, Philip H.; Latini, Alexandra; Abdenur, Jose E. (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.
↑ "Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) | Kennedy Krieger Institute". www.kennedykrieger.org. Retrieved 2025-05-09.
↑ Engelen, Marc; Abbink, Truus EM; Salomons, Gajja S.; van der Knaap, Marjo S. (1993), Adam, Margaret P.; Feldman, Jerry; Mirzaa, Ghayda M.; Pagon, Roberta A. (eds.), "Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 20506600 , retrieved 2025-05-09

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

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

[7] Huang, Wei-Lin; Steenari, Maija R.; Barrick, Rebekah; Simon, Mariella T.; Chang, Richard; Eftekharian, Shaya S.; Stover, Alexander; Schwartz, Philip H.; Latini, Alexandra; Abdenur, Jose E. (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.

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

[9] Engelen, Marc; Abbink, Truus EM; Salomons, Gajja S.; van der Knaap, Marjo S. (1993), Adam, Margaret P.; Feldman, Jerry; Mirzaa, Ghayda M.; Pagon, Roberta A. (eds.), "Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 20506600 , retrieved 2025-05-09

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