DOK4

Chr 16

docking protein 4

Also known as: IRS-5, IRS5

NCBI Gene: 55715 ENSG00000125170 UniProt: Q8TEW6 OMIM: 608333

DOK4 encodes an adaptor protein that provides a scaffolding platform for assembling signaling complexes, particularly functioning in RET-mediated neurite outgrowth and MAP kinase pathway activation during neuronal differentiation. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.60), but specific disease associations and inheritance patterns have not yet been established in human patients. Current evidence suggests potential roles in nervous system development and immune regulation, but clinical phenotypes remain to be characterized.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable signaling adaptor activity. Predicted to be involved in cell surface receptor protein tyrosine kinase signaling pathway. Predicted to act upstream of or within nervous system development and positive regulation of MAPK cascade. Predicted to be located in cytosol. Predicted to be active in mitochondrion. [provided by Alliance of Genome Resources, Jun 2026]

OMIM 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

0.60

LOEUF

Mechanism· predicted