CLCA2

Chr 1

chloride channel accessory 2

Also known as: CACC, CACC3, CLCRG2, CaCC-3

NCBI Gene: 9635 ENSG00000137975 UniProt: Q9UQC9 OMIM: 604003

The CLCA2 protein regulates calcium-dependent chloride transport across cell membranes and mediates cell adhesion, particularly in epithelial tissues. Mutations in this gene have been associated with neurodevelopmental disorders, though the gene shows tolerance to loss-of-function variants based on population genetics data. The protein undergoes autoproteolytic processing and plays roles in epithelial cell stratification and tumor suppression.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the calcium-activated chloride channel regulator (CLCR) family of proteins. Members of this family regulate the transport of chloride across the plasma membrane. The encoded protein is autoproteolytically processed to generate N- and C- terminal fragments. Expression of this gene is upregulated by the tumor suppressor protein p53 in response to DNA damage. In breast cancer, expression of this gene is downregulated and the encoded protein may inhibit migration and invasion while promoting mesenchymal-to-epithelial transition in cancer cell lines. [provided by RefSeq, Sep 2016]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.27

LOEUF

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Mechanism