GON7 (GON7 subunit of KEOPS complex)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 84520
Gene name GON7 subunit of KEOPS complex
Gene symbol GON7
Synonyms (NCBI Gene)
C14orf142PNAS-127
Chromosome 14
Chromosome location 14q32.12
miRNA miRNA information provided by mirtarbase database.
38
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (38)
miRTarBase ID miRNA Experiments Reference
MIRT542212 hsa-miR-1273g-3p PAR-CLIP 21572407
MIRT542211 hsa-miR-6850-3p PAR-CLIP 21572407
MIRT542210 hsa-miR-939-3p PAR-CLIP 21572407
MIRT542209 hsa-miR-1234-3p PAR-CLIP 21572407
MIRT542208 hsa-miR-7107-5p PAR-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (10)
GO ID Ontology Definition Evidence Reference
GO:0000408 Component EKC/KEOPS complex IBA
GO:0000408 Component EKC/KEOPS complex IDA 27903914, 31481669
GO:0000408 Component EKC/KEOPS complex IEA
GO:0002949 Process TRNA threonylcarbamoyladenosine modification IDA 31481669
GO:0005515 Function Protein binding IPI 27903914, 31481669, 32296183, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
617436 20356 ENSG00000170270
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BXV9
Protein name EKC/KEOPS complex subunit GON7
Protein function 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
PDB 6GWJ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15387 DUF4611 3 → 98 Domain of unknown function (DUF4611) Family
Sequence
Sequence length 100
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Galloway-Mowat syndrome Pathogenic rs1218573239 RCV002274206
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Galloway-Mowat syndrome 9 Pathogenic rs1218573239, rs2140095097 RCV001775536
RCV001775537
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (2)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
GALLOWAY MOWAT SYNDROME — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GON7-related disorder Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (2)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Galloway Mowat syndrome Galloway-Mowat Syndrome BEFREE 31481669
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Galloway Mowat syndrome Galloway-mowat syndrome Pubtator 31481669 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations