PTK7

Chr 6

protein tyrosine kinase 7 (inactive)

Also known as: CCK-4, CCK4

NCBI Gene: 5754 ENSG00000112655 UniProt: Q13308

This protein is an inactive receptor tyrosine kinase that functions in Wnt signaling pathways and regulates cell adhesion, migration, polarity, and cytoskeletal organization during embryonic development and tissue formation. Mutations cause neurodevelopmental disorders with intellectual disability and structural brain abnormalities, inherited in an autosomal dominant pattern. The gene is highly constrained against loss-of-function variants, indicating that haploinsufficiency is not well tolerated.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the receptor protein tyrosine kinase family of proteins that transduce extracellular signals across the cell membrane. The encoded protein lacks detectable catalytic tyrosine kinase activity, is involved in the Wnt signaling pathway and plays a role in multiple cellular processes including polarity and adhesion. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]

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

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.28

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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