TPRKB Chromosome 2
TP53RK binding protein
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What This Gene Does
Enables protein kinase binding activity. Involved in tRNA threonylcarbamoyladenosine modification. Located in cytosol and nucleus. Part of EKC/KEOPS complex. Implicated in Galloway-Mowat syndrome 5. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
KEOPS complex
Locus Type
gene with protein product
Location
2p13.1
Ensembl
ENSG00000144034
Associated Conditions (3)
Nonpapillary renal cell carcinoma
Galloway-Mowat syndrome 5
Nephrotic syndrome
Key Variants
RS147434102
Conflicting classifications of pathogenicity
Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma
Health Risk
RS1553433412
Conflicting classifications of pathogenicity
Galloway-Mowat syndrome 5, Nephrotic syndrome, Galloway-Mowat syndrome 5
Health Risk
RS754783287
Likely pathogenic
Galloway-Mowat syndrome 5, Galloway-Mowat syndrome 5
Health Risk
RS1233885358
Pathogenic
Galloway-Mowat syndrome 5, Galloway-Mowat syndrome 5
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS147434102 | Health Risk | Conflicting classifications of pathogenicity | Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma |
| RS1553433412 | Health Risk | Conflicting classifications of pathogenicity | Galloway-Mowat syndrome 5, Nephrotic syndrome, Galloway-Mowat syndrome 5 |
| RS754783287 | Health Risk | Likely pathogenic | Galloway-Mowat syndrome 5, Galloway-Mowat syndrome 5 |
| RS1233885358 | Health Risk | Pathogenic | Galloway-Mowat syndrome 5, Galloway-Mowat syndrome 5 |