GTPBP2 PN Consistency Notes
- Generated: 2026-06-18
- Project: PROTEOSTASIS
- Scope: PN consistency rereview against local AIGR review and available deep-research artifacts
- UniProt: Q9BX10
- AIGR review status: COMPLETE
- Review batch: proteostasis-batch-2026-06-07c
- Batch change status: added
Source Files Checked
Deep Research Files
- No
*-deep-research*.md file found in this gene directory.
AIGR Review Snapshot
- Description: GTPBP2 (GTP-binding protein 2) is a cytoplasmic translational GTPase of the TRAFAC-class translation-factor superfamily, related to eEF1A, eRF3, Hbs1 and its paralog GTPBP1. It partners the ribosome-rescue factor PELO and functions in the rescue of ribosomes stalled because of non-functional or deficient tRNA, a role that is especially critical in neurons. Unlike its paralog GTPBP1, GTPBP2 lacks eEF1A-like elongation activity and does not stimulate exosomal mRNA degradation; it has only weak GTP-binding activity that is stimulated by aminoacyl-tRNA. Loss of GTPBP2 (in the context of a destabilized brain-specific tRNA in mouse, and through biallelic loss-of-function in humans) leads to ribosome stalling and neurodegeneration; human GTPBP2 deficiency causes Jaberi-Elahi syndrome, characterized by developmental delay, intellectual disability, movement abnormalities and cerebellar atrophy.
- Existing/core annotation action counts: ACCEPT: 5; KEEP_AS_NON_CORE: 6; MARK_AS_OVER_ANNOTATED: 1
PN Consistency Summary
- Consistency: Consistent. Deep research (notes), review, and PN all agree GTPBP2 is a PELO-partnered translational GTPase that rescues ribosomes stalled on deficient/non-functional tRNA (Jaberi-Elahi syndrome, neuronal). No contradictions; the review additionally flags that GTPBP2 lacks eEF1A elongation activity (negated GO:0003746) and binds GTP only weakly — all coherent with the PN "ribosomal rescue" placement.
- PN story / NEW pressure: The PN rescue role is NOT captured by any process term in GTPBP2's GOA — the only BP annotation is GO:0006414 translational elongation (IBA), which the review marks MARK_AS_OVER_ANNOTATED. So GTPBP2 has no correct BP term for its actual function. GO:0072344 rescue of stalled cytosolic ribosome (verified real, non-obsolete) is the defensible ADD; GO:0006515 (verified real) is a broader parent and weaker. Conclusion: ADD GO:0072344 (the review currently leaves the rescue role only in
description/core_functions text, not as a proposed term).
- Evidence alignment: PN dossier lists no reference titles. Review/notes anchor on PMID:30108131 (GTPBP1/GTPBP2 GTPases) and UniProt; Ishimura 2014 (mouse Gtpbp2/Pelo) cited in notes but not as a YAML reference. No citation conflict; PN simply carries no PMIDs to compare.
- Verdict: Consistent; PN rescue story is real NEW pressure (GOA lacks a correct BP). Recommended edits: add GO:0072344 rescue of stalled cytosolic ribosome to
proposed_new_terms (or as a NEW annotation) [YAML]; consider adding Ishimura 2014 Science to references for the PELO-rescue/neurodegeneration evidence [REF].
Full Consistency Review
- UniProt: Q9BX10 · batch: proteostasis-batch-2026-06-07c · review status: COMPLETE
- PN placement:
Translation|Cytosolic translation|Ribosome-associated QC|Ribosomal rescue ; PN-node mapping: type Ribosomal rescue=mapped→GO:0072344 rescue of stalled cytosolic ribosome (more_specific_than_existing_goa); group Ribosome-associated QC=mapped→GO:0006515 protein quality control (new_to_goa); class/branch=context_only (too broad).
- Consistency: Consistent. Deep research (notes), review, and PN all agree GTPBP2 is a PELO-partnered translational GTPase that rescues ribosomes stalled on deficient/non-functional tRNA (Jaberi-Elahi syndrome, neuronal). No contradictions; the review additionally flags that GTPBP2 lacks eEF1A elongation activity (negated GO:0003746) and binds GTP only weakly — all coherent with the PN "ribosomal rescue" placement.
- PN story / NEW pressure: The PN rescue role is NOT captured by any process term in GTPBP2's GOA — the only BP annotation is GO:0006414 translational elongation (IBA), which the review marks MARK_AS_OVER_ANNOTATED. So GTPBP2 has no correct BP term for its actual function. GO:0072344 rescue of stalled cytosolic ribosome (verified real, non-obsolete) is the defensible ADD; GO:0006515 (verified real) is a broader parent and weaker. Conclusion: ADD GO:0072344 (the review currently leaves the rescue role only in
description/core_functions text, not as a proposed term).
- Mapping strategy: Node mapping is sound. Type-node GO:0072344 is the right specificity (not broader, unlike the TOMM20/HSPA8 precedent); group-node GO:0006515 is appropriately the fallback parent. The projected term is narrower-or-equal to the review's own functional picture, so no over-reach.
- Evidence alignment: PN dossier lists no reference titles. Review/notes anchor on PMID:30108131 (GTPBP1/GTPBP2 GTPases) and UniProt; Ishimura 2014 (mouse Gtpbp2/Pelo) cited in notes but not as a YAML reference. No citation conflict; PN simply carries no PMIDs to compare.
- Verdict: Consistent; PN rescue story is real NEW pressure (GOA lacks a correct BP). Recommended edits: add GO:0072344 rescue of stalled cytosolic ribosome to
proposed_new_terms (or as a NEW annotation) [YAML]; consider adding Ishimura 2014 Science to references for the PELO-rescue/neurodegeneration evidence [REF].
PN Dossier Context
- review_batch: proteostasis-batch-2026-06-07c
- review_yaml: genes/human/GTPBP2/GTPBP2-ai-review.yaml
- PN workbook rows: 1
PN row 1: Translation | Cytosolic translation | Ribosome-associated QC | Ribosomal rescue
- UniProt: Q9BX10
- In branches: TR
- PN-node mapping records (path + ancestors):
- [type] Translation|Cytosolic translation|Ribosome-associated QC|Ribosomal rescue
status=mapped scope=ok_for_propagation_to_go GO=[GO:0072344 rescue of stalled cytosolic ribosome]
rationale: This PN RQC type denotes rescue of stalled cytosolic ribosomes. The matching GO process term is the direct target.
- [group] Translation|Cytosolic translation|Ribosome-associated QC
status=mapped scope=ok_for_propagation_to_go GO=[GO:0006515 protein quality control for misfolded or incompletely synthesized proteins]
rationale: The PN ribosome-associated quality-control group covers surveillance and disposal of stalled or defective nascent-chain translation products. GO lacks a dedicated ribosome-associated QC term in the local cache, so the broader protein-quality-control process is the best supported target.
- [class] Translation|Cytosolic translation
status=context_only scope=too_broad_to_propagate GO=[GO:0002181 cytoplasmic translation]
rationale: The PN class Cytosolic translation is centered on the cytoplasmic translation apparatus and process, but it also houses supporting machinery such as ribosome biogenesis factors. The GO process term is a useful high-level label for the class, but propagating it to all members would over-annotate genes whose PN placement is through assembly or maturation context rather than core cytoplasmic translation.
- [branch] Translation
status=context_only scope=too_broad_to_propagate GO=[GO:0006412 translation]
rationale: The PN Translation branch is organized around the translation apparatus and immediately associated cotranslational quality-control systems. GO translation is the closest high-level process label, but the PN branch also contains adjacent machinery such as ribosome biogenesis and nascent-chain handling. Keeping this relationship is useful for interpretation, but it is too broad to project safely onto every member.
Projected GO annotations (2)
- GO:0006515 protein quality control for misfolded or incompletely synthesized proteins | scope=ok_for_propagation_to_go | goa_status=new_to_goa | from=Translation|Cytosolic translation|Ribosome-associated QC
- GO:0072344 rescue of stalled cytosolic ribosome | scope=ok_for_propagation_to_go | goa_status=more_specific_than_existing_goa | from=Translation|Cytosolic translation|Ribosome-associated QC|Ribosomal rescue
Note
This file is generated from the current PROTEOSTASIS phase-1 dossier and local gene-review artifacts. Edit the source review, PN mapping, or dossier rather than this generated note when correcting the underlying curation.