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FLASH GENE

Symbol

GARS

contributors: mct - updated : 27-08-2012

HGNC name	glycyl-tRNA synthetase
HGNC id	4162

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_002047 17 - 2759 NP_002038 - 739 - -

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 Cardiovascular heart         Digestive liver           mouth gingiva         stomach         Endocrine adrenal gland         Lymphoid/Immune spleen         Nervous brain       highly Reproductive female system uterus cervix   highly Respiratory lung         Skin/Tegument skin       highly

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol Endocrine islet cell (alpha,beta...)

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal WHEP-TRS domain
	a catalytic domain containing the characteristic three conserved motifs (1, 2, and 3) of class II tRNA synthetases and, in addition, three insertions (I, II, and III) between the motifs
	a C-terminal anticodon binding domain

mono polymer

homomer , dimer

HOMOLOGY

interspecies

homolog to C.elegans T10f2.1

Homologene

FAMILY

aminoacyl-t RNA synthetase family, class 2

CATEGORY

enzyme

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

basic FUNCTION	acting as a target of autoantibodies in the human autoimmune diseases
	. essential component of the translation apparatus, circulates in serum and can be secreted from macrophages in response to FAS ligand that is released from tumor cells

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CMT2D , DSMAVA

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

although missense mutations of Gars may cause some loss of function, the dominant neuropathy phenotype observed in mice is caused by a dose-dependent gain of function that is not mitigated by over-expression of functional wild-type protein