Gene Ontology annotation through association of InterPro records with GO terms

Annotation inferences using phylogenetic trees

Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt

GO_REF:0000117

Electronic Gene Ontology annotations created by ARBA machine learning models

GO_REF:0000120

Combined Automated Annotation using Multiple IEA Methods

PMID:19805282

Biogenesis of glutaminyl-mt tRNAGln in human mitochondria.

Recombinant human EARS2 glutamylates native mitochondrial tRNA-Glu and tRNA-Gln. Full-length C-terminal EGFP fusion targets HeLa mitochondria; the separate GatCAB complex performs subsequent amidation.

"The mtGluRS efficiently glutamylated both mt tRNA Gln and mt tRNA Glu"

PMID:34800366

Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context.

Human mitochondrial proteomics detects EARS2 group 6714, with Class 1 enrichment/importomics and Cluster 1 spatial profiling. Operational peripheral association does not identify a mitochondrial membrane face or provide separate isoform measurements.

PMID:22492562

Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.

Biallelic EARS2 variants were identified in patients with infantile-onset leukoencephalopathy, thalamic and brainstem abnormalities, elevated lactate and variable clinical severity.

file:human/EARS2/EARS2-uniprot.txt

UniProt record for EARS2 (Q5JPH6)

Official identity, two natural products, catalytic reactions and curated experimental matrix localization define the target baseline.

file:human/EARS2/EARS2-bioinformatics/RESULTS.md

EARS2 evidence results

Raw-input reconstruction authenticates the target PAINT lineage, chemical mappings, zinc-site correspondences and MitoCoP target records.

file:human/EARS2/EARS2-source-evidence.yaml

EARS2 source evidence guide

Primary locators, source-access limits, propagation and biochemical distinctions are mapped to the annotation decisions.