PTK6

Chr 20

protein tyrosine kinase 6

Also known as: BRK

NCBI Gene: 5753 ENSG00000101213 UniProt: Q13882 OMIM: 602004

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.

OMIM ResearchSummary from RefSeq, UniProt

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]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.34

LOEUF

Multiple*

Mechanism· predicted