GON7

Chr 14q32.12

GON7 subunit of KEOPS complex

MANE:: ENST00000306954.5

OMIM: 617436 ↗NCBI: 84520 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

GON7 · Q9BXV9

v62025-08-01

Predicted Aligned Error matrix for GON7 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

76.1/ 100

Confident

100 residues

Confidence breakdown

Very high(≥ 90)37%
Confident(70–90)17%
Low(50–70)39%
Very low(< 50)7%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Galloway-Mowat syndrome 9
0.57
Galloway-Mowat syndrome
0.50
corneal degeneration
0.05
eye injury
0.05
idiopathic pulmonary fibrosis
0.03
systemic inflammatory response syndrome
0.02
cancer
0.01
microcephaly
0.01
major depressive disorder
0.01
neoplasm
0.00

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

Protein function (UniProt)

EKC/KEOPS complex subunit GON7

Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine (PubMed:27903914, PubMed:31481669). The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37 (PubMed:27903914, PubMed:31481669). GON7 plays a supporting role to the catalytic subunit OSGEP in the complex (PubMed:27903914, PubMed:31481669)