CPNE3

Chr 8

copine 3

Also known as: CPN3, PRO1071

NCBI Gene: 8895 ENSG00000085719 UniProt: O75131

CPNE3 encodes a calcium-dependent phospholipid-binding protein that contains C2 domains for membrane binding and facilitates cell migration through ERBB2-mediated pathways. Mutations cause autosomal recessive neurodevelopmental disorders with intellectual disability, seizures, and movement abnormalities. The gene shows minimal constraint against loss-of-function mutations, consistent with recessive inheritance patterns.

ResearchSummary from RefSeq, UniProt

Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene encodes a protein which contains two type II C2 domains in the amino-terminus and an A domain-like sequence in the carboxy-terminus. The A domain mediates interactions between integrins and extracellular ligands. [provided by RefSeq, Aug 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.54

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)