Curated summary · agent-written · kb/genes/curated/hgnc_30740.md

All 13 claims checked against the KB draft

TARS2 across dismech

TARS2 (threonyl-tRNA synthetase 2, mitochondrial) is named by 1 disorder entry.

Normal function

TARS2's normal function is charging mitochondrial tRNA(Thr) with threonine, with editing of mischarged serine. The ai-gene-review layer currently ingested by dismech lists 0 core-function terms for TARS2: the pinned ingest predates the upstream review of this gene, which is being completed separately, so this page makes no claim about its GO terms yet.

Disease record

The entry that types TARS2 as causative is Combined Oxidative Phosphorylation Defect Type 21. Its genetic record is causative and the variant origin is recorded as germline. In the entry the gene sits on the node TARS2 Biallelic Loss of Function, where the variants are recorded as partial loss of function.

Where the layers meet

The GO processes annotated on the nodes naming TARS2 number 0, and the number of GO process terms shared with ai-gene-review by exact identifier is 0, which follows from the ingest gap above rather than from a disagreement.

ClinGen classifies TARS2 for 2 diseases, and the ClinGen disease with no matching dismech entry is mitochondrial disease. That is a broader grouping than the entry's own disease, so the entry carries no ClinGen tier.

Underlined values are claims re-computed from the knowledge base each time this page is built. The tables below are the source of truth.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Combined Oxidative Phosphorylation Defect Type 21	causative germline partial loss of function	mechanism: TARS2 Biallelic Loss of Function

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
Leigh syndrome MONDO:0009723	AR	Limited 2021-06-14	Leber-like Hereditary Optic Neuropathy, Autosomal Recessive 1 not named Leigh Syndrome not named
mitochondrial disease MONDO:0044970	AR	Definitive 2024-12-16	no dismech entry