DOK6

Chr 18

docking protein 6

Also known as: DOK5L, HsT3226

NCBI Gene: 220164 ENSG00000206052 UniProt: Q6PKX4

DOK6 encodes an adaptor protein that provides a docking platform for signaling complexes and promotes RET-mediated neurite growth in brain development. Mutations cause autosomal recessive developmental delay with dysmorphic facies and brain abnormalities, typically manifesting in early childhood. The gene shows significant constraint against loss-of-function variants (LOEUF 0.55), indicating that complete loss of DOK6 function is likely pathogenic.

ResearchSummary from RefSeq, UniProt

DOK6 is a member of the DOK (see DOK1; MIM 602919) family of intracellular adaptors that play a role in the RET (MIM 164761) signaling cascade (Crowder et al., 2004 [PubMed 15286081]).[supplied by OMIM, Mar 2008]

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)

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P/LP submissions

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P/LP missense

0.55

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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