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FLASH GENE

Symbol

MARS2

contributors: mct - updated : 20-05-2015

HGNC name	methionine-tRNA synthetase 2 (mitochondrial)
HGNC id	25133

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_138395 1 - 3102 NP_612404 - 593 - 2004 1527462

EXPRESSION

Type

widely

constitutive of

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 pancreas exocrine         Lymphoid/Immune thymus       highly Respiratory respiratory tract trachea     highly Urinary bladder

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	18 amino acid mitochondrial import signal sequence
	consensus motifs characteristic of a class I aminoacyl-tRNA synthetase but lacks the Zn(2+) binding motif
	C-terminal dimerization region

HOMOLOGY

interspecies

ortholog to drosophila Aats-met

Homologene

FAMILY

class-1 aminoacyl-tRNA synthetase family

CATEGORY

enzyme

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

basic FUNCTION	methionine-tRNA ligase activity
	is a mitochondrial translation factor

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	nucleotide,
	APT binding

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SPAX3

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       causative for a new mitochondrial translation deficiency disorder with a primary phenotype including developmental delay, poor growth, sensorineural hearing loss and hypotonia

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS