DOK2

Chr 8

docking protein 2

Also known as: p56DOK, p56dok-2

NCBI Gene: 9046 ENSG00000147443 UniProt: O60496 OMIM: 604997

DOK2 encodes an adaptor protein that provides a docking platform for assembly of signaling complexes and modulates cellular proliferation responses to various interleukins and growth factors. The gene is not well-established as a cause of human genetic disease, and loss-of-function variants are likely tolerated given the very low constraint scores (pLI near zero, LOEUF >1). Any reported clinical associations would require careful evaluation of variant pathogenicity and phenotype specificity.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is constitutively tyrosine phosphorylated in hematopoietic progenitors isolated from chronic myelogenous leukemia (CML) patients in the chronic phase. It may be a critical substrate for p210(bcr/abl), a chimeric protein whose presence is associated with CML. This encoded protein binds p120 (RasGAP) from CML cells. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.07

LOEUF

Multiple*

Mechanism· predicted