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FLASH GENE

Symbol

VARS2

contributors: mct - updated : 18-05-2018

HGNC name	valyl-tRNA synthetase 2, mitochondrial (putative)
HGNC id	21642

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	COXPD20 combined oxidative phosphorylation deficiency 20
Location	6p21.33      Physical location : 2.174.966 - 30.894.233
Synonym name	valine tRNA ligase 2, mitochondrial (putative)
	TFIIH basal transcription factor complex p52 subunit
	valyl-tRNA synthetase 2-like
Synonym symbol(s)	VARS, G7A, VARS2L, VARSL, DKFZP434L1435, KIAA1885, BTF2-p52, MGC138259, MGC142165, ValRS, Em:AB023048.4, COXPD20, VALRSL
EC.number	6.1.1.9

DNA

TYPE	functioning gene
STRUCTURE	12.25 kb     29 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	see HTFAG@
Authors	Hsieh (91)

regionally located

located in the class III region of the major histocompatibility complex

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001167734 29 - 3629 NP_001161206 118.3 1063 - 2014 24827421 NM_020442 29 - 3625 NP_065175 - 1063 - 2014 24827421 NM_001167733 29 - 3397 NP_001161205 - 923 - 2014 24827421

EXPRESSION

Type

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 Cardiovascular heart         Digestive liver       highly Endocrine pancreas       highly Lymphoid/Immune thymus       moderately Nervous brain       moderately Reproductive female system ovary     moderately   male system prostate       Respiratory lung       highly   respiratory tract trachea     highly Urinary kidney       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Lymphoid

cell lineage
cell lines
fluid/secretion	predominantly in lymph

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal mitochondrial targeting signal with a predicted cleavage site after residue 29
	a GST C-terminal domain
	characteristic Rossman fold catalytic domain

conjugated

Other

mono polymer

heteromer , aggregate

HOMOLOGY

interspecies	homolog to rattus Vars2l (84.3 pc)
	homolog to murine Vars2 (84.4 pc)

Homologene

FAMILY

class-I aminoacyl-tRNA synthetase family

CATEGORY

enzyme , RNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,cytoplasm,cytosolic

basic FUNCTION	catalyzing the aminoacylation of tRNA by their cognate amino acid
	acting as a valine-tRNA ligase
	catalyzes the attachment of an amino acid to its cognate transfer RNA molecule in a highly specific two-step reaction

CELLULAR PROCESS

protein, translation/synthesis

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

forming high-molecular-mass aggregates with elongation factor 1

INTERACTION

DNA

RNA	binding to tRNA

small molecule	nucleotide,
	ATP

protein

cell & other

REGULATION

Other	regulated by protein kinase C-dependent phosphorylation
	acetylated

ASSOCIATED DISORDERS

corresponding disease(s)

COXPD20

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	VARS2 V552V may be considered as a prognostic factor for survival in patients with early breast cancer
Therapy target

ANIMAL & CELL MODELS