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) [1] Band 1q25.1 Start 173,824,653 bp [1] End 173,858,808 bp [1]
Gene location (Mouse) Chr. Chromosome 1 (mouse) [2] Band 1|1 H2.1 Start 160,868,171 bp [2] End 160,898,228 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 55157 226539 Ensembl ENSG00000117593 ENSMUSG00000026709 UniProt Q6PI48 Q8BIP0 RefSeq (mRNA) NM_018122 NM_001365212 NM_001365213 NM_172644 RefSeq (protein) NP_060592 NP_001352141 NP_001352142 NP_060592.2 NP_766232 Location (UCSC) Chr 1: 173.82 – 173.86 Mb Chr 1: 160.87 – 160.9 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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. GRCh38: Ensembl release 89: ENSG00000117593 – Ensembl, May 2017
2. 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. "Genome Data Viewer - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2025-05-09.
7. 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.
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.