DOCK5

Chr 8

dedicator of cytokinesis 5

NCBI Gene: 80005 ENSG00000147459 UniProt: Q9H7D0

The protein functions as a guanine nucleotide exchange factor that activates Rho and Rac GTPases, mediating cell spreading and migration on collagen IV in epithelial and endothelial cells. Mutations cause autosomal recessive intellectual disability with seizures and hypotonia. This gene is highly constrained against loss-of-function mutations (LOEUF 0.441), indicating that complete loss of protein function is likely not tolerated.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the dedicator of cytokinesis protein family. Members of this family act as guanine nucleotide exchange factors for small Rho family G proteins. The protein encoded by this gene is thought to associate with adaptors CRK and CRKL, and function in regulation of intestinal epithelial cell spreading and migration on collagen IV. Similar proteins in mouse and zebrafish also function in myoblast fusion. [provided by RefSeq, Oct 2016]

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

—

P/LP missense

0.44

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429