GTPBP2

Chr 6p21.1

GTP binding protein 2

MANE:: ENST00000307126.10

OMIM: 607434 ↗NCBI: 54676 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

GTPBP2 · Q9BX10

v62025-08-01

Predicted Aligned Error matrix for GTPBP2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

83.2/ 100

Confident

602 residues

Confidence breakdown

Very high(≥ 90)47%
Confident(70–90)39%
Low(50–70)6%
Very low(< 50)8%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Adult onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Jaberi-Elahi syndrome
0.77
Intellectual disability
0.49
Seizure
0.46
Global developmental delay
0.46
neurodegenerative disease
0.23
lysosomal storage disease
0.23
multiple sclerosis
0.23
Parkinson disease
0.23
Alzheimer disease
0.23
hereditary disease
0.19

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

GTP-binding protein 2

Involved in the rescue of ribosome stalling due to the presence of non-functional tRNA (By similarity). Has very low GTP-binding activity (PubMed:30108131)