Gene Page: EARS2

Summary ?
GeneID124454
SymbolEARS2
SynonymsCOXPD12|MSE1|gluRS
Descriptionglutamyl-tRNA synthetase 2, mitochondrial
ReferenceMIM:612799|HGNC:HGNC:29419|Ensembl:ENSG00000103356|Vega:OTTHUMG00000177018
Gene typeprotein-coding
Map location16p12.2
Pascal p-value0.083
Fetal beta-0.081
eGeneCortex
Frontal Cortex BA9
Hippocampus
Putamen basal ganglia

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DNM:Fromer_2014Whole Exome Sequencing analysisThis study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.
GSMA_IIEGenome scan meta-analysis (European-ancestry samples)Psr: 0.01775 
GO_AnnotationMapping neuro-related keywords to Gene Ontology annotationsHits with neuro-related keywords: 2 

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
EARS2chr1623546654GANM_001083614
NR_003501		.
.		silent
npcRNA		SchizophreniaDNM:Fromer_2014

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs99232341623554760EARS2ENSG00000103356.118.6728E-70.039684gtex_brain_putamen_basal

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

No co-expressed genes in brain regions


Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0004818glutamate-tRNA ligase activityIEAglutamate (GO term level: 7)-
GO:0000166nucleotide bindingIEA-
GO:0005524ATP bindingIEA-
GO:0004812aminoacyl-tRNA ligase activityIEA-
GO:0016874ligase activityIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0006424glutamyl-tRNA aminoacylationIEAglutamate (GO term level: 11)-
GO:0006412translationIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005737cytoplasmIEA-
GO:0005739mitochondrionIEA-
GO:0005759mitochondrial matrixIEA-

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG PORPHYRIN AND CHLOROPHYLL METABOLISM 4123All SZGR 2.0 genes in this pathway
KEGG AMINOACYL TRNA BIOSYNTHESIS 4133All SZGR 2.0 genes in this pathway
REACTOME MITOCHONDRIAL TRNA AMINOACYLATION 2117All SZGR 2.0 genes in this pathway
REACTOME TRNA AMINOACYLATION 4234All SZGR 2.0 genes in this pathway
KINSEY TARGETS OF EWSR1 FLII FUSION UP 1278748All SZGR 2.0 genes in this pathway
DODD NASOPHARYNGEAL CARCINOMA DN 1375806All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN DN 17811082All SZGR 2.0 genes in this pathway
GRAESSMANN RESPONSE TO MC AND DOXORUBICIN DN 770415All SZGR 2.0 genes in this pathway
WEI MIR34A TARGETS 14897All SZGR 2.0 genes in this pathway
RICKMAN TUMOR DIFFERENTIATED WELL VS POORLY UP 236139All SZGR 2.0 genes in this pathway
IVANOVA HEMATOPOIESIS STEM CELL AND PROGENITOR 681420All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 6HR UP 953554All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 6HR DN 911527All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 24HR DN 1011592All SZGR 2.0 genes in this pathway
KONDO EZH2 TARGETS 245148All SZGR 2.0 genes in this pathway
IWANAGA CARCINOGENESIS BY KRAS PTEN DN 353226All SZGR 2.0 genes in this pathway
ACEVEDO LIVER TUMOR VS NORMAL ADJACENT TISSUE UP 863514All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE VIA TP53 GROUP D 280158All SZGR 2.0 genes in this pathway
WAKABAYASHI ADIPOGENESIS PPARG RXRA BOUND 8D 882506All SZGR 2.0 genes in this pathway