PTK6
Chr 20protein tyrosine kinase 6
Also known as: BRK
The protein encoded by this gene is a cytoplasmic non-receptor tyrosine kinase that regulates epithelial cell differentiation, maintenance, and signaling pathways including EGFR, STAT3/5, and various RNA-binding proteins. This gene is extremely intolerant to loss-of-function variants in the general population, but no Mendelian pediatric neurogenetic disorders have been established from mutations in PTK6 based on current evidence. The gene's primary known associations are with epithelial biology and cancer rather than inherited neurological conditions.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PTK6 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools