DOCK10

Chr 2

dedicator of cytokinesis 10

Also known as: DRIP2, Nbla10300, ZIZ3

NCBI Gene: 55619 ENSG00000135905 UniProt: Q96BY6

The protein functions as a guanine nucleotide-exchange factor that activates CDC42 and RAC1 GTPases and is essential for dendritic spine morphogenesis in Purkinje cells and hippocampal neurons. Mutations cause autosomal recessive intellectual disability with seizures, microcephaly, and cerebellar atrophy. The gene is highly constrained against loss-of-function variants, indicating that complete protein loss is likely incompatible with normal development.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the dedicator of cytokinesis protein family. Members of this family are guanosine nucleotide exchange factors for Rho GTPases and defined by the presence of conserved DOCK-homology regions. The encoded protein belongs to the D (or Zizimin) subfamily of DOCK proteins, which also contain an N-terminal pleckstrin homology domain. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Mar 2014]

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

0.39

LOEUF

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Mechanism

Some data sources returned errors (1)

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