PTK2

Chr 8

protein tyrosine kinase 2

Also known as: FADK, FADK 1, FAK, FAK1, FRNK, PPP1R71, p125FAK, pp125FAK

NCBI Gene: 5747 ENSG00000169398 UniProt: Q05397

This gene encodes focal adhesion kinase (FAK), a non-receptor protein tyrosine kinase that regulates cell migration, adhesion, cytoskeletal organization, and is required for normal embryonic development including heart and nervous system development. Mutations cause autosomal dominant neurodevelopmental disorders with intellectual disability, seizures, and congenital heart defects. The gene is highly constrained against loss-of-function variants (pLI = 1.0, LOEUF = 0.24), reflecting its essential role in development.

ResearchSummary from RefSeq, UniProt

This gene encodes a cytoplasmic protein tyrosine kinase which is found concentrated in the focal adhesions that form between cells growing in the presence of extracellular matrix constituents. The encoded protein is a member of the FAK subfamily of protein tyrosine kinases but lacks significant sequence similarity to kinases from other subfamilies. Activation of this gene may be an important early step in cell growth and intracellular signal transduction pathways triggered in response to certain neural peptides or to cell interactions with the extracellular matrix. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2017]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

112

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.24

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)