Aliases for CCDC88C Gene
External Ids for CCDC88C Gene
Previous HGNC Symbols for CCDC88C Gene
Previous GeneCards Identifiers for CCDC88C Gene
This gene encodes a ubiquitously expressed coiled-coil domain-containing protein that interacts with the dishevelled protein and is a negative regulator of the Wnt signalling pathway. The protein encoded by this gene has a PDZ-domain binding motif in its C-terminus with which it interacts with the dishevelled protein. Dishevelled is a scaffold protein involved in the regulation of the Wnt signaling pathway. The Wnt signaling pathway plays an important role in embryonic development, tissue maintenance, and cancer progression. Mutations in this gene cause autosomal recessive, primary non-syndromic congenital hydrocephalus; a condition characterized by excessive accumulation of cerebrospinal fluid in the ventricles of the brain. [provided by RefSeq, Jan 2013]
GeneCards Summary for CCDC88C Gene
CCDC88C (Coiled-Coil Domain Containing 88C) is a Protein Coding gene. Diseases associated with CCDC88C include Hydrocephalus, Congenital, 1 and Spinocerebellar Ataxia 40. Among its related pathways are Signaling by GPCR and WNT mediated activation of DVL. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and protein self-association. An important paralog of this gene is CCDC88A.
UniProtKB/Swiss-Prot Summary for CCDC88C Gene
Required for activation of guanine nucleotide-binding proteins (G-proteins) during non-canonical Wnt signaling (PubMed:26126266). Binds to ligand-activated Wnt receptor FZD7, displacing DVL1 from the FZD7 receptor and leading to inhibition of canonical Wnt signaling (PubMed:26126266). Acts as a non-receptor guanine nucleotide exchange factor by also binding to guanine nucleotide-binding protein G(i) alpha (Gi-alpha) subunits, leading to their activation (PubMed:26126266). Binding to Gi-alpha subunits displaces the beta and gamma subunits from the heterotrimeric G-protein complex, triggering non-canonical Wnt responses such as activation of RAC1 and PI3K-AKT signaling (PubMed:26126266). Promotes apical constriction of cells via ARHGEF18 (PubMed:30948426).