TP53RK

Chr 20AR

TP53 regulating kinase

Also known as: BUD32, C20orf64, GAMOS4, Nori-2, Nori-2p, PRPK, TPRKB, dJ101A2

NCBI Gene: 112858 ENSG00000172315 UniProt: Q96S44 OMIM: 608679

TP53RK is a component of the EKC/KEOPS complex required for threonylcarbamoyl modification of tRNAs and functions as an atypical protein kinase that phosphorylates p53 at serine-15. Mutations cause Galloway-Mowat syndrome 4, a disorder characterized by early-onset nephrotic syndrome and microcephaly with developmental delay. This condition follows autosomal recessive inheritance.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Galloway-Mowat syndrome 4MIM #617730

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.65

LOEUF

LOF

Mechanism· G2P