GTPBP2

Chr 6AR

GTP binding protein 2

Also known as: JABELS

NCBI Gene: 54676ENSG00000172432UniProt: Q9BX10OMIM: 607434

GTPBP2 encodes a GTP-binding protein that binds GTP/GDP and is activated by GTP binding and inactivated by hydrolyzing GTP to GDP. Autosomal recessive mutations cause Jaberi-Elahi syndrome. The mechanism of pathogenicity is not established from the available data.

OMIMResearchSummary from RefSeq, OMIM
LOFmechanismARLOEUF 0.431 OMIM phenotype
Clinical Summary— GTPBP2
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Gene-Disease Validity (ClinGen)
Jaberi-Elahi syndrome · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.23) despite low pLI — interpret in context.
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Missense constrained — critical functional residues
LoF Constraint
0.43LOEUF
pLI 0.317
Z-score 3.93
OE 0.23 (0.13–0.43)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
3.43Z-score
OE missense 0.50 (0.44–0.56)
182 obs / 366.8 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios
LoF OE0.23 (0.13–0.43)
0≤0.351.4
Missense OE0.50 (0.44–0.56)
0≤0.61.4
Synonymous OE1.01
0≤1.21.6
LoF obs/exp: 7 / 30.4Missense obs/exp: 182 / 366.8Syn Z: -0.10
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
definitiveGTPBP2-related Jaberi-Elahi syndromeLOFAR

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.6453th %ile
GOF
0.6052th %ile
LOF
0.4233th %ile

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GTPBP2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Salpietro V et al.·Am J Hum Genet
2024
Clinical delineation of GTPBP2-associated neuro-ectodermal syndrome: Report of two new families and review of the literature.
Carter MT et al.·Clin Genet
2019Review
Jaberi-Elahi syndrome: Exploring a novel GTPBP2 mutation and a literature review.
Manoochehri J et al.·Eur J Med Genet
2024Review
Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability.
Bertoli-Avella AM et al.·Eur J Hum Genet
2018Case report
Metabolic alterations in fibroblasts of patients presenting with the MPAN subtype of neurodegeneration with brain iron accumulation (NBIA).
Wydrych A et al.·Biochim Biophys Acta Mol Basis Dis
2025Cohort
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients