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EARS2 Gene

protein-coding GIFtS: 59
GCID: GC16M023533

Glutamyl-TRNA Synthetase 2, Mitochondrial

(Previous names: glutamyl-tRNA synthetase 2, mitochondrial (putative))

See EARS2-related diseases
at

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(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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Aliases
Glutamyl-TRNA Synthetase 2, Mitochondrial¹ ²		gluRS²
Glutamyl-TRNA Synthetase 2, Mitochondrial (Putative)¹ ²		Glutamate TRNA Ligase 2, Mitochondrial²
EC 6.1.1.17³ ⁸		Glutamate--TRNA Ligase²
COXPD12² ⁵		Probable Glutamate--TRNA Ligase, Mitochondrial²
KIAA1970³ ⁵		Probable Glutamyl-TRNA Synthetase, Mitochondrial²
Glutamate TRNA Ligase 2¹		GluRS³
mitochondrial¹		Glutamyl-TRNA Synthetase³
MSE1²

External Ids:	HGNC: 29419¹	Entrez Gene: 124454²	Ensembl: ENSG00000103356⁷	OMIM: 612799⁵	UniProtKB: Q5JPH6³

Export aliases for EARS2 gene to outside databases

Previous GC identifers: GC16M023440 GC16M021624

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

Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein

encoded by this gene belongs to the class-I aminoacyl-tRNA synthetase family and catalyzes the attachment of

glutamate to tRNA(Glu). Alternative splicing results in multiple transcript variants. (provided by RefSeq, Sep

2010)

GeneCards Summary for EARS2 Gene:

EARS2 (glutamyl-tRNA synthetase 2, mitochondrial) is a protein-coding gene. Diseases associated with EARS2 include combined oxidative phosphorylation deficiency 12, and anisometropia. GO annotations related to this gene include glutamate-tRNA(Gln) ligase activity and tRNA binding.

UniProtKB/Swiss-Prot: SYEM_HUMAN, Q5JPH6

Function: Catalyzes the attachment of glutamate to tRNA(Glu) in a two-step reaction: glutamate is first activated

by ATP to form Glu-AMP and then transferred to the acceptor end of tRNA(Glu) (By similarity)

(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

Regulatory elements:

Regulatory transcription factor binding sites in the EARS2 gene promoter:
E2F-4 E2F-3a NF-1 E2F-5 p53 E2F-2 PPAR-alpha E2F E2F-1 Pax-4a
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search Chromatin IP Primers for EARS2

Epigenetics:

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

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p12.2 Ensembl cytogenetic band: 16p12.2 HGNC cytogenetic band: 16p12.3

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

GeneLoc information about chromosome 16 GeneLoc Exon Structure

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

Start:	23,533,334 bp from pter	End:	23,569,052 bp from pter
Size:	35,719 bases	Orientation:	minus strand

(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, and/or antibodies-online,
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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UniProtKB/Swiss-Prot: SYEM_HUMAN, Q5JPH6 (See protein sequence)

Recommended Name: Probable glutamate--tRNA ligase, mitochondrial precursor

Size: 523 amino acids; 58689 Da

Secondary accessions: B3KTT2 D3DWF1 Q8TF31

Explore the universe of human proteins at neXtProt for EARS2: NX_Q5JPH6

Explore proteomics data for EARS2 at MOPED

Post-translational modifications:

Ubiquitination² at Lys480

Modification sites at PhosphoSitePlus

Selected DME Specific Peptides for EARS2 (Q5JPH6) (see all 10)

HLPLLLN

LRLEDTD

GGLRTAL

TPRYDNR

See EARS2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001077083.1

ENSEMBL proteins:

ENSP00000456467 ENSP00000457107 ENSP00000456218 ENSP00000455789 ENSP00000455519

ENSP00000455875 ENSP00000458604 ENSP00000395196

Reactome Protein details: Q5JPH6

EARS2 Human Recombinant Protein Products:

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

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:

aaRS1: Aminoacyl tRNA synthetases / Class I

Selected InterPro protein domains (see all 8):

IPR001412 aa-tRNA-synth_I_CS

IPR004527 Glu-tRNA-ligase_bac/mito

IPR020061 Glu/Gln-tRNA-synth_Ib_a-bdl

IPR008925 aa-tRNA-synth_I_codon-bd

IPR020058 Glu/Gln-tRNA-synth_Ib_cat-dom

Graphical View of Domain Structure for InterPro Entry Q5JPH6

ProtoNet protein and cluster: Q5JPH6

1 Blocks protein domain: IPB000924 Glutamyl-tRNA synthetase signature

UniProtKB/Swiss-Prot: SYEM_HUMAN, Q5JPH6

Similarity: Belongs to the class-I aminoacyl-tRNA synthetase family

Find genes that share domains with EARS2 About GenesLikeMe

(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.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: SYEM_HUMAN, Q5JPH6

Function: Catalyzes the attachment of glutamate to tRNA(Glu) in a two-step reaction: glutamate is first activated

by ATP to form Glu-AMP and then transferred to the acceptor end of tRNA(Glu) (By similarity)

Catalytic activity: ATP + L-glutamate + tRNA(Glu) = AMP + diphosphate + L-glutamyl-tRNA(Glu)

Enzyme Number (IUBMB): EC 6.1.1.17¹ ²

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000049	tRNA binding	IEA	--
GO:0000166	nucleotide binding	--	--
GO:0004818	glutamate-tRNA ligase activity	IDA	19805282
GO:0005524	ATP binding	IEA	--
GO:0016876	ligase activity, forming aminoacyl-tRNA and related compounds	--	--

Find genes that share ontologies with EARS2 About GenesLikeMe

Phenotypes:
1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Ears2):

mortality/aging

Find genes that share phenotypes with EARS2 About GenesLikeMe

Animal Models:

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
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EARS2

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

SYEM_HUMAN, Q5JPH6: Mitochondrion matrix (By similarity)

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	--	--
GO:0005739	mitochondrion	IDA	19805282
GO:0005759	mitochondrial matrix	IEA	--

Find genes that share ontologies with EARS2 About GenesLikeMe

(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 GeneDecks, 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).
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SuperPaths for EARS2 About

See pathways by source

Powered
by

SuperPath

Contained pathways About

tRNA Aminoacylation

	tRNA Aminoacylation	0.57			Mitochondrial tRNA aminoacylation	0.50
	Aminoacyl-tRNA biosynthesis	0.52

Metabolism of porphyrins

Porphyrin and chlorophyll metabolism

0.56

Gene Expression

Gene Expression

0.40

Metabolism

Metabolic pathways

0.38

Find genes that share SuperPaths with EARS2 About GenesLikeMe

Pathways by source See SuperPaths
Show all pathways

1 Reactome Pathway for EARS2

Mitochondrial tRNA aminoacylation

3 Kegg Pathways (Kegg details for EARS2):

	Porphyrin and chlorophyll metabolism
	Aminoacyl-tRNA biosynthesis
	Metabolic pathways

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for EARS2
Interactions:

Search GeneGlobe Interaction Network for EARS2

Selected Interacting proteins for EARS2 (Q5JPH6³) via UniProtKB, MINT, STRING, and/or I2D (see all 27)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
NEDD4L	Q96PU5³	I2D: score=3
ACO2	Q99798³	I2D: score=1
CBS	P35520³	I2D: score=1
CCT2	P78371³	I2D: score=1
DDX18	Q9NVP1³	I2D: score=1

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006418	tRNA aminoacylation for protein translation	TAS	--
GO:0006424	glutamyl-tRNA aminoacylation	IDA	19805282
GO:0010467	gene expression	TAS	--
GO:0043039	tRNA aminoacylation	--	--
GO:0070127	tRNA aminoacylation for mitochondrial protein translation	IDA	19805282

Find genes that share ontologies with EARS2 About GenesLikeMe

(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)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for EARS2 (SYEM)

7 HMDB Compounds for EARS2 About this table

Compound	Synonyms	CAS #	PubMed Ids
Adenosine monophosphate	5'-AMP (see all 28)	61-19-8	--
Adenosine triphosphate	5'-(tetrahydrogen triphosphate) Adenosine (see all 24)	56-65-5	--
Famotidine	Amfamox (see all 83)	76824-35-6	--
Gamma-Aminobutyric acid	3-Carboxypropylamine (see all 27)	56-12-2	--
L-Glutamic acid	(2S)-2-Aminopentanedioate (see all 49)	56-86-0	--
Phosphoric acid	acide phosphorique (FRENCH) (see all 20)	7664-38-2	--
Pyrophosphate	(4-)Diphosphoric acid ion (see all 10)	14000-31-8	--

1 DrugBank Compound for EARS2 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
L-Glutamic Acid	(2S)-2-Aminopentanedioic acid (see all 15)	56-86-0	target	--	17161369

(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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REFSEQ mRNAs for EARS2 gene:

NM_001083614.1

Unigene Cluster for EARS2:

Glutamyl-tRNA synthetase 2, mitochondrial

Hs.620541 [show with all ESTs]

Unigene Representative Sequence: NM_001083614

17 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000563459 ENST00000564987 ENST00000564776 ENST00000564759 ENST00000564501

ENST00000563232(uc002dlu.3) ENST00000565344 ENST00000562402 ENST00000566017

ENST00000564668 ENST00000564461 ENST00000562581 ENST00000561859 ENST00000564997

ENST00000563499 ENST00000562799 ENST00000449606(uc002dlr.4 uc002dls.4 uc002dlt.4)

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		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*

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Additional mRNA sequence:

AB075850.1 AF088053.1 AK095998.1 AL832489.1 BC020592.1 BC040013.1 BX648129.1 NR_003501.1

18 DOTS entries:

DT.100844821 DT.448238 DT.100781219 DT.120691069 DT.100027545 DT.100008435 DT.95275717 DT.95099257

DT.120691009 DT.120691084 DT.91713220 DT.95199993 DT.95218806 DT.120690960 DT.120690994 DT.120691020

DT.100781217 DT.97784815

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for EARS2 About this scheme

ExUns:	1	^	2a	·	2b	^	3	^	4	^	5	^	6a	·	6b	^	7a	·	7b	^	8	^	9	^	10	^	11	^	12
SP1:
SP2:			-		-		-
SP3:
SP4:							-

ECgene alternative splicing isoforms for EARS2

(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 GeneDecks, 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

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EARS2 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

EARS2 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.620541

Custom PCR Arrays for EARS2

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In Situ
Assay Products:

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(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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This gene was present in the common ancestor of eukaryotes.

Orthologs for EARS2 gene from Selected species (see all 21) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Ears2^{1 , 5}	glutamyl-tRNA synthetase 2 (mitochondrial)(putative) less^{1, 5}	85.34(n)¹ 86.19(a)¹		7 (65.30 cM)⁵ 67417¹ NM_026140.2¹ NP_080416.1¹ 122037213⁵
chicken (Gallus gallus)	Aves	EARS2¹	glutamyl-tRNA synthetase 2, mitochondrial (putative) less	69.45(n) 68.64(a)		427672 NM_001031467.1 NP_001026638.1
lizard (Anolis carolinensis)	Reptilia	EARS2⁶	glutamyl-tRNA synthetase 2, mitochondrial	75(a)	1 ↔ 1	GL344022.1(396-10801)
tropical clawed frog (Xenopus tropicalis)	Amphibia	ears2¹	glutamyl-tRNA synthetase 2, mitochondrial	64.03(n) 64.91(a)		493404 NM_001008041.1 NP_001008042.1
zebrafish (Danio rerio)	Actinopterygii	zgc:153247¹	zgc:153247	62.26(n) 60.12(a)		751732 NM_001045442.1 NP_001038907.1
fruit fly (Drosophila melanogaster)	Insecta	CG4573¹	CG4573	53.88(n) 50.1(a)		39828 NM_140637.3 NP_648894.2
worm (Caenorhabditis elegans)	Secernentea	ears-2¹	ears-2	45.89(n) 40.26(a)		176860 NM_067516.4 NP_499917.2
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	MSE1¹	MSE1	42.7(n) 38.72(a)		854124 NP_014609.1
thale cress (Arabidopsis thaliana)	eudicotyledons	ERS¹	ERS	44.84(n) 40.12(a)		836526 NM_125801.3 NP_201210.1
rice (Oryza sativa)	Liliopsida	Os02g0121000¹	Os02g0121000	45.94(n) 40.76(a)		4328118 NM_001052249.1 NP_001045714.1

ENSEMBL Gene Tree for EARS2 (if available)
TreeFam Gene Tree for EARS2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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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

(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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SNP ID	Clinical significance	Chr 16 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data				Transcription Related Data				Allele Frequencies
			--	--	--		--	--
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

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(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.)
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OMIM gene information: 612799
OMIM disorders: 614924
UniProtKB/Swiss-Prot: SYEM_HUMAN, Q5JPH6

Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924]: An autosomal recessive,

mitochondrial, neurologic disorder characterized by onset in infancy of hypotonia and delayed psychomotor

development, or early developmental regression, associated with T2-weighted hyperintensities in the deep cerebral

white matter, brainstem, and cerebellar white matter. Serum lactate is increased due to a defect in mitochondrial

respiration. There are 2 main phenotypic groups: those with a milder disease course and some recovery of skills

after age 2 years, and those with a severe disease course resulting in marked disability. Note=The disease is

caused by mutations affecting the gene represented in this entry

3 diseases for EARS2:
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combined oxidative phosphorylation deficiency 12 anisometropia primary cutaneous amyloidosis

2 inferred disease relationships from the University of Copenhagen DISEASES database for EARS2:

Primary cutaneous amyloidosis Anisometropia

Find genes that share disorders with EARS2 About GenesLikeMe

Genetic Association Database (GAD): EARS2
Human Genome Epidemiology (HuGE) Navigator: EARS2 (1 document)

Export disorders for EARS2 gene to outside databases

(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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PubMed articles for EARS2 gene, integrated from 10 sources (see all 19):
(articles sorted by number of sources associating them with EARS2)

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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)
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)
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)
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)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (Nat. Genet. 2004)
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)
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)
Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation. (PubMed id 23008233)² Talim B.... Horvath R. (Brain 2013)
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)
Initial characterization of the human central proteome. (PubMed id 21269460)² Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 124454	HGNC: 29419	Ensembl:ENSG00000103356	euGenes: HUgn124454	ECgene: EARS2	Kegg: 124454
H-InvDB: EARS2

(According to HUGE)
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HUGE: KIAA1970

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for EARS2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for EARS2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for EARS2 gene:
Search GeneIP for patents involving EARS2

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(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, 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
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Glutamyl-TRNA Synthetase 2, Mitochondrial

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