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FLASH GENE

Symbol

RARS2

contributors: mct/npt - updated : 12-11-2020

HGNC name	arginyl-tRNA synthetase 2, mitochondrial
HGNC id	21406

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	EIEE91 epileptic encephalopathy, early infantile, 91 PCH6 pontocerebellar hypoplasia 6
Location	6q15      Physical location : 88.224.097 - 88.299.735
Synonym name	arginine-tRNA ligase
	arginyl-tRNA synthetase-like
Synonym symbol(s)	DALRD2, PRO1992, PCH6, ArgRS, RARSL, MGC14993, MGC23778, dJ382I10.6,
EC.number	6.1.1.19

DNA

TYPE	functioning gene
STRUCTURE	76.06 kb     20 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_020320 20 - 2242 NP_064716 63.7 578 - 2015 26083569 a 16 aa transit peptide of 1.8 kda a 562 aa mature peptide of 63.7 kda NM_001350505 20 - 2123 NP_001337434 - 588 - 2015 26083569 NM_001350509 18 - 2333 NP_001337438 - 403 - 2015 26083569 NM_001318785 19 - 2407 NP_001305714 - 403 - 2015 26083569 NM_001350506 21 - 2344 NP_001337435 - 413 - 2015 26083569 NM_001350510 20 - 2463 NP_001337439 - 403 - 2015 26083569 NM_001350508 21 - 2625 NP_001337437 - 403 - 2015 26083569 NM_001350511 21 - 2582 NP_001337440 - 403 - 2015 26083569 NM_001350507 21 - 2586 NP_001337436 - 403 - 2015 26083569

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 Digestive salivary gland       highly Endocrine placenta         Reproductive female system uterus cervix   highly Urinary bladder       highly

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies	homolog to rattus Rarsl (85.6 pc)
	homolog to murine Rars2 (86 pc)

Homologene

FAMILY

class-I aminoacyl-tRNA synthetase family

CATEGORY

enzyme

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

basic FUNCTION	acting as an arginine-tRNA ligase
	encodes for an enzyme that aminoacylates mt-tRNAArg in mitochondria

CELLULAR PROCESS

protein, translation/synthesis

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	nucleotide,
	ATP

protein

PHLDA3

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

PCH6 , EIEE91

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS