FZD5
Domain
The PDZ-binding motif mediates interaction with GOPC.
Lys-Thr-X-X-X-Trp motif interacts with the PDZ domain of Dvl (Disheveled) family members and is involved in the activation of the Wnt/beta-catenin signaling pathway.
The FZ domain is involved in binding with Wnt ligands.
Function
Receptor for Wnt proteins (PubMed:10097073, PubMed:20530549, PubMed:26908622, PubMed:9054360). Functions in the canonical Wnt/beta-catenin signaling pathway. In vitro activates WNT2, WNT10B, WNT5A, but not WNT2B or WNT4 signaling (By similarity). In neurons, activation by WNT7A promotes formation of synapses (PubMed:20530549). May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues (Probable). Plays a role in yolk sac angiogenesis and in placental vascularization (By similarity). Plays a role in ocular development (PubMed:26908622).
Involvement in disease
Microphthalmia/Coloboma 11
MCOPCB11
A form of colobomatous microphthalmia, a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like coloboma, opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). MCOPCB11 is an autosomal dominant form with incomplete penetrance.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Ubiquitinated by RNF43 and ZNRF3, leading to its degradation by the proteasome.
Sequence Similarities
Belongs to the G-protein coupled receptor Fz/Smo family.
Cellular localization
- Cell membrane
- Multi-pass membrane protein
- Golgi apparatus membrane
- Multi-pass membrane protein
- Synapse
- Perikaryon
- Cell projection
- Dendrite
- Cell projection
- Axon
- Localized at the plasma membrane and also found at the Golgi apparatus.
Alternative names
C2orf31, FZD5, Frizzled-5, Fz-5, hFz5, FzE5