TP53RK Chromosome 20
TP53 regulating kinase
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What This Gene Does
Enables p53 binding activity and protein serine/threonine kinase activity. Involved in protein phosphorylation. Located in cytoplasm and nucleus. Part of EKC/KEOPS complex. Implicated in Galloway-Mowat syndrome 4. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
KEOPS complex
Locus Type
gene with protein product
Location
20q13.12
Ensembl
ENSG00000172315
Associated Conditions (5)
TP53RK-related disorder
Galloway-Mowat syndrome 4
Global developmental delay
Seizure
Microcephaly
Key Variants
RS1258476504
Conflicting classifications of pathogenicity
TP53RK-related disorder, Galloway-Mowat syndrome 4, TP53RK-related disorder
Health Risk
RS148722672
Conflicting classifications of pathogenicity
Galloway-Mowat syndrome 4, Galloway-Mowat syndrome 4
Health Risk
RS2122963096
Conflicting classifications of pathogenicity
Galloway-Mowat syndrome 4, Galloway-Mowat syndrome 4
Health Risk
RS45570735
Conflicting classifications of pathogenicity
Galloway-Mowat syndrome 4, Galloway-Mowat syndrome 4
Health Risk
RS553547069
Conflicting classifications of pathogenicity
Global developmental delay, Seizure, Galloway-Mowat syndrome 4
Health Risk
RS776588426
Conflicting classifications of pathogenicity
Galloway-Mowat syndrome 4, Galloway-Mowat syndrome 4
Health Risk
RS1568972559
Likely pathogenic
Galloway-Mowat syndrome 4, Galloway-Mowat syndrome 4
Health Risk
RS1431526147
Pathogenic
Galloway-Mowat syndrome 4, Galloway-Mowat syndrome 4
Health Risk
RS1432218739
Pathogenic
Galloway-Mowat syndrome 4, Galloway-Mowat syndrome 4
Health Risk
RS773814837
Pathogenic
Galloway-Mowat syndrome 4, Galloway-Mowat syndrome 4
Health Risk
RS774069989
Pathogenic
Microcephaly, Galloway-Mowat syndrome 4, Microcephaly
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1258476504 | Health Risk | Conflicting classifications of pathogenicity | TP53RK-related disorder, Galloway-Mowat syndrome 4, TP53RK-related disorder |
| RS148722672 | Health Risk | Conflicting classifications of pathogenicity | Galloway-Mowat syndrome 4, Galloway-Mowat syndrome 4 |
| RS2122963096 | Health Risk | Conflicting classifications of pathogenicity | Galloway-Mowat syndrome 4, Galloway-Mowat syndrome 4 |
| RS45570735 | Health Risk | Conflicting classifications of pathogenicity | Galloway-Mowat syndrome 4, Galloway-Mowat syndrome 4 |
| RS553547069 | Health Risk | Conflicting classifications of pathogenicity | Global developmental delay, Seizure, Galloway-Mowat syndrome 4 |
| RS776588426 | Health Risk | Conflicting classifications of pathogenicity | Galloway-Mowat syndrome 4, Galloway-Mowat syndrome 4 |
| RS1568972559 | Health Risk | Likely pathogenic | Galloway-Mowat syndrome 4, Galloway-Mowat syndrome 4 |
| RS1431526147 | Health Risk | Pathogenic | Galloway-Mowat syndrome 4, Galloway-Mowat syndrome 4 |
| RS1432218739 | Health Risk | Pathogenic | Galloway-Mowat syndrome 4, Galloway-Mowat syndrome 4 |
| RS773814837 | Health Risk | Pathogenic | Galloway-Mowat syndrome 4, Galloway-Mowat syndrome 4 |
| RS774069989 | Health Risk | Pathogenic | Microcephaly, Galloway-Mowat syndrome 4, Microcephaly |