TPRKB

Chr 2

TP53RK binding protein

Also known as: CGI-121, CGI121, GAMOS5

NCBI Gene: 51002ENSG00000144034UniProt: Q9Y3C4

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtGalloway-Mowat syndrome 5
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.31
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.31LOEUF
pLI 0.008
Z-score 1.03
OE 0.58 (0.28–1.31)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.10Z-score
OE missense 0.97 (0.81–1.17)
80 obs / 82.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.58 (0.28–1.31)
0≤0.351.4
Missense OE?0.97 (0.81–1.17)
0≤0.61.4
Synonymous OE?1.07
0≤1.21.6
LoF obs/exp: 4 / 6.9Missense obs/exp: 80 / 82.6Syn Z: -0.30

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TPRKB · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients