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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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GON7
GON7 subunit of KEOPS complex
Chromosome 14 Β· 14q32.12
NCBI Gene: 84520Ensembl: ENSG00000170270.6HGNC: HGNC:20356UniProt: Q9BXV9
17PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingtRNA threonylcarbamoyladenosine modificationnucleolusEKC/KEOPS complexGalloway-Mowat syndrome 9Galloway-Mowat syndromecorneal degenerationeye injury
✦AI Summary

GON7 is a non-catalytic subunit of the KEOPS complex, a five-component protein assembly essential for tRNA modification in eukaryotes and archaea 1. The KEOPS complex catalyzes formation of N6-threonylcarbamoyl adenosine (t6A) at position 37 of ANN-decoding tRNAs, a universally conserved modification critical for translational fidelity and efficiency 2. While the catalytic subunit OSGEP/Kae1 directly catalyzes t6A biosynthesis, GON7 plays a supporting structural role 3. Crystal structure analysis reveals that GON7 is an intrinsically disordered protein that becomes partially structured upon binding to LAGE3, suggesting involvement in KEOPS complex stability and quaternary organization 2. Recent cryo-EM structures of KEOPS-tRNA complexes indicate that all subunits, including GON7, contribute to substrate specificity and tRNA conformational changes necessary for modification 4. Mutations in GON7 cause Galloway-Mowat syndrome (GAMOS), a rare autosomal recessive disorder characterized by early-onset nephrotic syndrome and microcephaly, though GON7 mutations reportedly produce a milder disease phenotype compared to other KEOPS subunit mutations 25. These findings establish GON7 as an essential auxiliary component of the translational quality control machinery.

Sources cited
1
GON7 is the human ortholog of yeast Gon7 and is a core KEOPS subunit; plays supporting role in t6A biosynthesis
PMID: 27903914
2
GON7 mutations cause milder Galloway-Mowat syndrome; GON7 becomes partially structured upon binding to LAGE3 and is involved in KEOPS complex stability
PMID: 31481669
3
GON7 is an auxiliary subunit of the five-subunit KEOPS complex; mutations in KEOPS genes including GON7 underlie Galloway-Mowat syndrome
PMID: 34614169
4
GON7 is a KEOPS subunit component; all KEOPS subunits except Gon7 are strictly needed for tRNA modification; mutations in all five KEOPS genes underlie lethal Galloway-Mowat syndrome
PMID: 39639027
5
GON7 mutations cause Galloway-Mowat syndrome characterized by early-onset nephrotic syndrome and microcephaly
PMID: 40533795
6
GON7/Pcc2 is the fifth KEOPS subunit found in fungi and metazoa; KEOPS catalyzes t6A biosynthesis essential for cellular fitness
PMID: 38477398
Disease Associationsβ“˜21
Galloway-Mowat syndrome 9Open Targets
0.55Moderate
Galloway-Mowat syndromeOpen Targets
0.50Moderate
corneal degenerationOpen Targets
0.06Suggestive
eye injuryOpen Targets
0.04Suggestive
systemic inflammatory response syndromeOpen Targets
0.02Suggestive
idiopathic pulmonary fibrosisOpen Targets
0.02Suggestive
overnutritionOpen Targets
0.02Suggestive
obesityOpen Targets
0.02Suggestive
microcephalyOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
gestational diabetesOpen Targets
0.00Suggestive
nasopharyngeal neoplasmOpen Targets
0.00Suggestive
chronic kidney diseaseOpen Targets
0.00Suggestive
head and neck malignant neoplasiaOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
ovarian cancerOpen Targets
0.00Suggestive
prostate cancerOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
pancreatic ductal adenocarcinomaOpen Targets
0.00Suggestive
Galloway-Mowat syndrome 9UniProt
Pathogenic Variants2
NM_032490.5(GON7):c.21C>A (p.Tyr7Ter)Pathogenic
Galloway-Mowat syndrome 9|Galloway-Mowat syndrome
β˜…β˜†β˜†β˜†β†’ Residue 7
NM_032490.5(GON7):c.19dup (p.Tyr7fs)Pathogenic
Galloway-Mowat syndrome 9
β˜†β˜†β˜†β˜†2021β†’ Residue 7
View on ClinVar β†—
Related Genes
TPRKBProtein interaction90%OSGEPProtein interaction87%LAGE3Protein interaction81%OSGEPL1Protein interaction68%TP53RKProtein interaction61%YRDCProtein interaction60%
Tissue Expression6 tissues
Heart
100%
Liver
68%
Brain
65%
Lung
49%
Bone Marrow
47%
Ovary
34%
Gene Interaction Network
Click a node to explore
GON7TPRKBOSGEPLAGE3OSGEPL1TP53RKYRDC
PROTEIN STRUCTURE
Preparing viewer…
PDB6GWJ Β· 1.95 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.89LoF Tolerant
pLIβ“˜
0.58Intermediate
Observed/Expected LoF0.28 [0.12–0.89]
RankingsWhere GON7 stands among ~20K protein-coding genes
  • #15,013of 20,598
    Most Researched17
  • #4,570of 5,498
    Most Pathogenic Variants2
  • #7,996of 17,882
    Most Constrained (LOEUF)0.89
Genes detectedGON7
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Structures of KEOPS bound to tRNA reveal functional roles of the kinase Bud32.
PMID: 39639027
Nat Commun Β· 2024
1.00
2
Genetics and phenotypic heterogeneity of Galloway-Mowat syndrome.
PMID: 40533795
Cell Commun Signal Β· 2025
0.90
3
The structural and functional workings of KEOPS.
PMID: 34614169
Nucleic Acids Res Β· 2021
0.80
4
Molecular basis of A. thaliana KEOPS complex in biosynthesizing tRNA t6A.
PMID: 38477398
Nucleic Acids Res Β· 2024
0.70
5
Defects in t
PMID: 31481669
Nat Commun Β· 2019
0.60