CCDC186

Chr 10

coiled-coil domain containing 186

Also known as: C10orf118, CCCP-1, CCCP1, golgin104

NCBI Gene: 55088 ENSG00000165813 UniProt: Q7Z3E2 OMIM: 619249

CCDC186 encodes a protein predicted to bind small GTPases and regulate vesicle trafficking in the Golgi apparatus and trans-Golgi network, with involvement in insulin secretion and glucose response. The gene shows high constraint against loss-of-function variants (LOEUF 0.461), suggesting that mutations would likely cause significant developmental or physiological effects. However, no specific human disease phenotypes have been definitively associated with CCDC186 mutations to date.

OMIM ResearchSummary from RefSeq

Predicted to enable small GTPase binding activity. Predicted to be involved in vesicle cytoskeletal trafficking. Predicted to act upstream of or within insulin secretion involved in cellular response to glucose stimulus and response to bacterium. Predicted to be located in Golgi apparatus. Predicted to be active in trans-Golgi network. [provided by Alliance of Genome Resources, Jul 2025]

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

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.46

LOEUF

Mechanism· predicted