C2CD5

Chr 12

C2 calcium dependent domain containing 5

Also known as: CDP138, KIAA0528

NCBI Gene: 9847 ENSG00000111731 UniProt: Q86YS7 OMIM: 618044

The protein binds phospholipid membranes in a calcium-dependent manner and is required for insulin-stimulated glucose transport and translocation of the glucose transporter GLUT4 to the plasma membrane in adipocytes. Mutations cause autosomal recessive intellectual disability with seizures and spasticity, typically presenting in infancy or early childhood. The gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely pathogenic.

OMIM ResearchSummary from RefSeq, UniProt

Enables calcium ion binding activity and calcium-dependent phospholipid binding activity. Involved in several processes, including insulin receptor signaling pathway; positive regulation of protein targeting to membrane; and positive regulation of vesicle fusion. Located in several cellular components, including cell cortex; cytoplasmic vesicle membrane; and ruffle membrane. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.70

LOEUF

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Mechanism