EARS2 Gene

Aliases
for EARS2 gene

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Previous GC identifers: GC16M023440 GC16M021624

Summaries
for EARS2 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Genomic Views
for EARS2 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000016.9  NT_187260.1  NC_018927.2  

Browse SwitchGear Promoter luciferase reporter plasmids

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EARS2

EARS2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M023533:  view genomic region     (about GC identifiers)

Proteins
for EARS2 gene

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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Explore the universe of human proteins at neXtProt for EARS2: NX_Q5JPH6

Explore proteomics data for EARS2 at MOPED

Post-translational modifications: 

EARS2 Human Recombinant Protein Products:

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	antibodies-online proteins for EARS2 (4 products)
	antibodies-online peptides for EARS2

EARS2 Antibody Products:

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EARS2 Assay Products:

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	antibodies-online kits for EARS2 (3 products)

Domains /
Families
for EARS2 gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
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ProtoNet protein and cluster: Q5JPH6

Find genes that share domains with EARS2           About GenesLikeMe

Function
for EARS2 gene

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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     Enzyme Number (IUBMB): EC 6.1.1.17^{1 2}

     Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

(inferred from 1 allele) (MGI details for Ears2)

genOway: Develop your customized and physiologically relevant rodent model for EARS2

miRNA Products:		miRTarBase miRNAs that target EARS2: hsa-mir-218-5p (MIRT046996), hsa-mir-320a (MIRT044733), hsa-mir-92a-3p (MIRT049182), hsa-mir-17-5p (MIRT050871), hsa-mir-16-5p (MIRT031675), hsa-mir-331-3p (MIRT043325)
		Block miRNA regulation of human, mouse, rat EARS2 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate EARS2 (see all 14):
		hsa-miR-495 hsa-miR-631 hsa-miR-146a hsa-miR-3065-5p hsa-miR-548o hsa-miR-3661 hsa-miR-520a-5p hsa-miR-182*
		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for EARS2
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Gene Editing Products:

DNA2.0 Custom Protein Engineering Service for EARS2

Clone Products:		OriGene clones in human, mouse for EARS2 (see all 6) OriGene ORF clones in mouse, rat for EARS2 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EARS2

Localization
for EARS2 gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Subcellular locations from COMPARTMENTS: 

Compartment	Confidence
mitochondrion	5
nucleus	3
chloroplast	2
cytosol	1

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Gene Ontology (GO): 3 cellular component terms:    About this table

Pathways & Interactions
for EARS2 gene

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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SuperPaths for EARS2 About     See pathways by source

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	SuperPath	Contained pathways About
1	tRNA Aminoacylation	tRNA Aminoacylation 0.57 Mitochondrial tRNA aminoacylation 0.50 Aminoacyl-tRNA biosynthesis 0.52
2	Metabolism of porphyrins	Porphyrin and chlorophyll metabolism 0.56
3	Gene Expression	Gene Expression 0.40
4	Metabolism	Metabolic pathways 0.38

1 Reactome Pathway for EARS2

Mitochondrial tRNA aminoacylation

3 Kegg Pathways  (Kegg details for EARS2)

	Porphyrin and chlorophyll metabolism
	Aminoacyl-tRNA biosynthesis
	Metabolic pathways

Gene Ontology (GO): 5 biological process terms:    About this table

Drugs & Compounds
for EARS2 gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
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Transcripts
for EARS2 gene

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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Expression
for EARS2 gene

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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EARS2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: GCAGCCAGCC

About this image

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for EARS2
		Pre-validated RT2 qPCR Primer Assay in human, mouse, rat EARS2
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		QuantiFast Probe-based Assays in human, mouse, rat EARS2

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EARS2

Orthologs
for EARS2 gene

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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Paralogs
for EARS2 gene

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
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Paralogs for EARS2 gene

1 SIMAP similar gene for EARS2 using alignment to 8 protein entries:     SYEM_HUMAN (see all proteins):

A-735G6.3

Find genes that share paralogs with EARS2           About GenesLikeMe

Genomic Variants
for EARS2 gene

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for EARS2 (see all 808)    About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 16 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
VAR_0692454		Combined oxidative phosphorylation deficiency 12 (COXPD12)4	--	see VAR_069245	2	G C	mis4		0	--	--	--	--
VAR_0692474		Combined oxidative phosphorylation deficiency 12 (COXPD12)4	--	see VAR_069247	2	R Q	mis4		0	--	--	--	--
VAR_0692424		Combined oxidative phosphorylation deficiency 12 (COXPD12)4	--	see VAR_069242	2	R G	mis4		0	--	--	--	--
VAR_0692374		Combined oxidative phosphorylation deficiency 12 (COXPD12)4	--	see VAR_069237	2	E K	mis4		0	--	--	--	--
VAR_0692414		Combined oxidative phosphorylation deficiency 12 (COXPD12)4	--	see VAR_069241	2	C Y	mis4		0	--	--	--	--
VAR_0692364		Combined oxidative phosphorylation deficiency 12 (COXPD12)4	--	see VAR_069236	2	K E	mis4		0	--	--	--	--
VAR_0692394		Combined oxidative phosphorylation deficiency 12 (COXPD12)4	--	see VAR_069239	2	R W	mis4		0	--	--	--	--
VAR_0692404		Combined oxidative phosphorylation deficiency 12 (COXPD12)4	--	see VAR_069240	2	G S	mis4		0	--	--	--	--
VAR_0692444		Combined oxidative phosphorylation deficiency 12 (COXPD12)4	--	see VAR_069244	2	G S	mis4		0	--	--	--	--
VAR_0692384		Combined oxidative phosphorylation deficiency 12 (COXPD12)4	--	see VAR_069238	2	R H	mis4		0	--	--	--	--

HapMap Linkage Disequilibrium report for EARS2 (23533334 - 23569052 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for EARS2:    About this table    

Variant ID	Type	Subtype	PubMed ID
esv990394	CNV	Deletion	20482838

Human Gene Mutation Database (HGMD): EARS2

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing EARS2

DNA2.0 Custom Variant and Variant Library Synthesis for EARS2

Disorders / Diseases
for EARS2 gene

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
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Publications
for EARS2 gene

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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1. Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. (PubMed id 22492562)^{1, 2, 3} Steenweg M.E.... Zeviani M. (Brain 2012)
2. Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS. (PubMed id 15779907)^{1, 2, 3} Bonnefond L....Sissler M. (Biochemistry 2005)
3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)^{1, 4} Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
4. Biogenesis of glutaminyl-mt tRNAGln in human mitochondria. (PubMed id 19805282)^{1, 3} Nagao A.... Suzuki T. (Proc. Natl. Acad. Sci. U.S.A. 2009)
5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (Nat. Genet. 2004)
6. Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. (PubMed id 11853319)^{1, 2} Nagase T.... Ohara O. (DNA Res. 2001)
7. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)¹ Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
8. Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation. (PubMed id 23008233)² Talim B.... Horvath R. (Brain 2013)
9. Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. (PubMed id 22277967)¹ Calvo S.E.... Mootha V.K. (Sci. Transl. Med. 2012)
10. Initial characterization of the human central proteome. (PubMed id 21269460)² Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)

External Searches for EARS2 gene

Genome Databases showing EARS2 gene

Other Databases showing EARS2 gene

Specialized Databases showing EARS2 gene

Products
for EARS2 gene

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, GeneTex, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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