EARS2 glutamyl-tRNA synthetase 2, mitochondrial [Homo sapiens (human)] - Gene

Summary

Official Symbol: EARS2provided by HGNC
Official Full Name: glutamyl-tRNA synthetase 2, mitochondrialprovided by HGNC
Primary source: HGNC:HGNC:29419
See related: Ensembl:ENSG00000103356 MIM:612799; AllianceGenome:HGNC:29419
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MSE1; gluRS; COXPD12; mtGlnRS; mtGluRS
Summary: This gene encodes a member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of glutamate to tRNA molecules. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 12 (COXPD12). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]
Expression: Ubiquitous expression in thyroid (RPKM 6.6), testis (RPKM 6.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p12.2

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (23520754..23557375, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (23796546..23833174, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (23532075..23568696, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotyping mitochondrial glutamyl-tRNA synthetase deficiency (EARS2): A case series and systematic literature review.
Title: Phenotyping mitochondrial glutamyl-tRNA synthetase deficiency (EARS2): A case series and systematic literature review.
EARS2 significantly coexpresses with PALB2 in breast and pancreatic cancer.
Title: EARS2 significantly coexpresses with PALB2 in breast and pancreatic cancer.
This study presented that a new neurological disease, early-onset leukoencephalopathy with thalamus and brainstem involvement and high lactate, defined by a peculiar biphasic clinical course and caused by mutations in a single gene, EARS2.
Title: Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.
Strong candidate gene for mitochondrial disease, based on recessive mutations detected in infantile patients
Title: Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Studies showed in vitro Gln-tRNA(Gln) formation catalyzed by the recombinant mtGluRS and hGatCAB.
Title: Biogenesis of glutaminyl-mt tRNAGln in human mitochondria.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome MedGen: C4706421 OMIM: 614924 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH65293 (e-PCR)
- UniSTS:84017

RH65694 (e-PCR)
- UniSTS:3685

SHGC-57880 (e-PCR)
- UniSTS:53638

D16S316 (e-PCR)
- UniSTS:147098

WI-11144 (e-PCR)
- UniSTS:28864

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables glutamate-tRNA ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables glutamate-tRNA ligase activity	IDA Inferred from Direct Assay more info	PubMed
enables glutamate-tRNA(Gln) ligase activity	IDA Inferred from Direct Assay more info	PubMed
enables tRNA binding	IEA Inferred from Electronic Annotation more info
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in glutamyl-tRNA aminoacylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in glutamyl-tRNA aminoacylation	IDA Inferred from Direct Assay more info	PubMed
involved_in tRNA aminoacylation for mitochondrial protein translation	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in mitochondrial matrix	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: nondiscriminating glutamyl-tRNA synthetase EARS2, mitochondrial

Names: glutamate tRNA ligase 2, mitochondrial; glutamate--tRNA ligase; glutamate--tRNA(Gln) ligase EARS2, mitochondrial; mitochondrial glutamyl-tRNA synthetase; probable glutamate--tRNA ligase, mitochondrial; probable glutamyl-tRNA synthetase, mitochondrial

NP_001077083.1

EC 6.1.1.17

EC 6.1.1.24

NP_001295140.1

EC 6.1.1.17

EC 6.1.1.24

XP_011544040.1

EC 6.1.1.17

EC 6.1.1.24

XP_054235587.1

EC 6.1.1.17

EC 6.1.1.24

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_027752.2 RefSeqGene

Range

5026..41622

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001083614.2 → NP_001077083.1 nondiscriminating glutamyl-tRNA synthetase EARS2, mitochondrial isoform 1

See identical proteins and their annotated locations for NP_001077083.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC002400

Consensus CDS

CCDS42132.1

UniProtKB/Swiss-Prot

B3KTT2, D3DWF1, Q5JPH6, Q86YH3, Q8TF31

UniProtKB/TrEMBL

H3BTB7

Related

ENSP00000395196.2, ENST00000449606.7

Conserved Domains (2) summary

cd00808
Location:36 → 361

GluRS_core; catalytic core domain of discriminating glutamyl-tRNA synthetase

PRK01406
Location:37 → 520

gltX; glutamyl-tRNA synthetase; Reviewed
NM_001308211.1 → NP_001295140.1 nondiscriminating glutamyl-tRNA synthetase EARS2, mitochondrial isoform 2

See identical proteins and their annotated locations for NP_001295140.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) an exon and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. It encodes isoform 2 which is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC002400, BC040013, DA692403

Consensus CDS

CCDS76844.1

UniProtKB/TrEMBL

H3BTB7

Related

ENSP00000456218.1, ENST00000563232.1

Conserved Domains (2) summary

cd00808
Location:36 → 361

GluRS_core; catalytic core domain of discriminating glutamyl-tRNA synthetase

PRK01406
Location:37 → 508

gltX; glutamyl-tRNA synthetase; Reviewed

RNA

NR_003501.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate segment in the 3' region, compared to variant 1. Translation of the ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AB075850, AC002400, DA692403

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

23520754..23557375 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011545738.2 → XP_011544040.1 nondiscriminating glutamyl-tRNA synthetase EARS2, mitochondrial isoform X1

UniProtKB/TrEMBL

H3BTB7

Conserved Domains (2) summary

cd00808
Location:23 → 337

GluRS_core; catalytic core domain of discriminating glutamyl-tRNA synthetase

PRK01406
Location:23 → 496

gltX; glutamyl-tRNA synthetase; Reviewed