PTK6

Chr 20

protein tyrosine kinase 6

Also known as: BRK

The protein encoded by this gene is a cytoplasmic nonreceptor protein kinase which may function as an intracellular signal transducer in epithelial tissues. Overexpression of this gene in mammary epithelial cells leads to sensitization of the cells to epidermal growth factor and results in a partially transformed phenotype. Expression of this gene has been detected at low levels in some breast tumors but not in normal breast tissue. The encoded protein has been shown to undergo autophosphorylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]

ResearchGenerating clinical summary…
MultiplemechanismLOEUF 1.34
Clinical SummaryPTK6
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.34LOEUF
pLI 0.000
Z-score 0.33
OE 0.92 (0.651.34)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.39Z-score
OE missense 0.93 (0.851.03)
270 obs / 288.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.92 (0.651.34)
00.351.4
Missense OE?0.93 (0.851.03)
00.61.4
Synonymous OE?1.08
01.21.6
LoF obs/exp: 20 / 21.7Missense obs/exp: 270 / 288.8Syn Z: -0.76

This gene — mechanism propensity

DN
0.6745th %ile
GOF
0.74top 25%
LOF
0.3164th %ile

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.

GOFprediction above median
DNprediction above median

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.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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