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FLASH GENE

Symbol

DARS2

contributors: mct - updated : 13-11-2020

HGNC name	aspartyl-tRNA synthetase 2 (mitochondrial)
HGNC id	25538

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	LBSL leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
Location	1q25.1      Physical location : 173.793.796 - 173.827.682
Synonym name	aspartate tRNA ligase 2, mitochondrial
Synonym symbol(s)	RP3-383J4.2, FLJ10514, mt-aaRSs, ASPRS, LBSL, MT-ASPRS, mtAspRS
EC.number	6.1.1.12

DNA

TYPE	functioning gene
STRUCTURE	33.87 kb     17 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_018122 17 - 3336 NP_060592 - 645 - 2010 19592391 NM_001365212 16 - 3183 NP_001352141 - 594 - 2010 19592391 NM_001365213 14 - 2084 NP_001352142 - 482 - 2010 19592391

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine neuroendocrine pituitary     highly Reproductive male system testis     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal   highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a 47-AA mitochondrial targeting signal, resulting in a mature protein of 598 amino acids
	conserved residues involved in ATP binding, tRNA binding, and aspartic acid recognition

mono polymer

homomer , dimer

HOMOLOGY

Homologene

FAMILY

class-II aminoacyl-tRNA synthetase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,matrix
	intracellular,nucleus,nucleoplasm

basic FUNCTION	esterify tRNAs with the cognate specific amino acid, form mainly a different set of proteins than those involved in the cytosolic translation machinery
	catalyze the esterification of a specific amino acid
	protects against neuroinflammation and apoptotic neuronal loss, but is dispensable for myelin producing cells
	a key enzyme for mitochondrial translation
	nuclear-encoded enzyme that facilitate conjugation of each of the 20 amino acids to its cognate tRNA molecule
	is indispensable for Purkinje cell (PCs) survival, suggesting the central role of neuroinflammation in DARS2-related PC degeneration

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

LBSL

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function leads to the activation of various stress responses in a tissue-specific manner independently of respiratory chain deficiency

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS