Seroatlas · Human Serome Atlas

EARS2

Nondiscriminating glutamyl-tRNA synthetase EARS2, mitochondrial

Also known as: KIAA1970, MSE1, mtGlnRS, SYEM_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q5JPH6
Gene: EARS2
Ensembl: ENSG00000103356
Chromosome: 16
Canonical length: 523 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Mitochondria

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

523 residues, UniProt reviewed canonical sequence.

>Q5JPH6|EARS2
     1  MAALLRRLLQ RERPSAASGR PVGRREANLG TDAGVAVRVR FAPSPTGFLH LGGLRTALYN
    61  YIFAKKYQGS FILRLEDTDQ TRVVPGAAEN IEDMLEWAGI PPDESPRRGG PAGPYQQSQR
   121  LELYAQATEA LLKTGAAYPC FCSPQRLELL KKEALRNHQT PRYDNRCRNM SQEQVAQKLA
   181  KDPKPAIRFR LEQVVPAFQD LVYGWNRHEV ASVEGDPVIM KSDGFPTYHL ACVVDDHHMG
   241  ISHVLRGSEW LVSTAKHLLL YQALGWQPPH FAHLPLLLNR DGSKLSKRQG DVFLEHFAAD
   301  GFLPDSLLDI ITNCGSGFAE NQMGRTLPEL ITQFNLTQVT CHSALLDLEK LPEFNRLHLQ
   361  RLVSNESQRR QLVGKLQVLV EEAFGCQLQN RDVLNPVYVE RILLLRQGHI CRLQDLVSPV
   421  YSYLWTRPAV GRAQLDAISE KVDVIAKRVL GLLERSSMSL TQDMLNGELK KLSEGLEGTK
   481  YSNVMKLLRM ALSGQQQGPP VAEMMLALGP KEVRERIQKV VSS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EARS2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.27
Highest tissue expression: 4.5 nTPM

Expression across tissuesHPA

Tissue

parathyroid gland: 4.5 nTPM
basal ganglia: 4.2 nTPM
skeletal muscle: 3.9 nTPM
cerebral cortex: 3.6 nTPM
heart muscle: 3.6 nTPM
pancreas: 3.5 nTPM

Single-cell type

myonuclei: 32 nCPM
cytotrophoblasts: 28 nCPM
choroid plexus epithelial cells: 28 nCPM
medullary thymic epithelial cells: 24 nCPM
migrating cytotrophoblasts: 24 nCPM
adrenal cortex cells: 22 nCPM

Immune cell

NK-cell: 1.8 nTPM
myeloid DC: 1.7 nTPM
T-reg: 1.7 nTPM
MAIT T-cell: 1.6 nTPM
plasmacytoid DC: 1.6 nTPM
intermediate monocyte: 1.5 nTPM

Brain region

cerebral cortex: 15 nTPM
choroid plexus: 15 nTPM
hypothalamus: 15 nTPM
basal ganglia: 14 nTPM
hippocampal formation: 14 nTPM
medulla oblongata: 14 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EARS2.

Disease | AllUniProt

Conditions EARS2 is implicated in, by any mechanism.

Combined oxidative phosphorylation deficiency 12 (COXPD12) MIM:614924

Disease | GeneticClinVar

36 pathogenic / likely-pathogenic of 389 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
Inborn genetic diseases
9 conditions
See cases
EARS2-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.02
gnomAD pLI: 0
gnomAD missense Z: 0.11
DepMap mean gene effect: -0.32
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

glutamyl-tRNA aminoacylation
tRNA aminoacylation for mitochondrial protein translation

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

Glutamyl/glutaminyl-tRNA synthetase
Aminoacyl-tRNA synthetase, class I, conserved site
Rossmann-like alpha/beta/alpha sandwich fold
Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain
tRNA synthetases class I (E and Q), catalytic domain
Glutamate-tRNA ligase, bacterial/mitochondrial
Aminoacyl-tRNA synthetase, class I, anticodon-binding superfamily
Aminoacyl-tRNA synthetase, class I, anticodon-binding domain, subdomain 2
Glutamyl-tRNA synthetase
Aminoacyl-tRNA synthetase, class I, anticodon-binding
Glutamyl-Q tRNA(Asp) synthetase/Glutamate--tRNA ligase
Anticodon binding domain

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads EARS2 as an antibody target. Whether an autoantibody or antibody against EARS2 could matter depends on whether native EARS2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

EARS2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label EARS2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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