Disease-gene associations mined from literature

Literature associating FZD5 and coloboma

FZD5 [ENSP00000354607]

Frizzled class receptor 5; Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK- 3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues. Interacts specifically with Wnt5A to induce the beta- catenin pathway.

Synonyms:  FZD5,  FZD5p,  hFZD5,  Q13467,  C2orf31 ...

Linkouts:  STRING  Pharos  UniProt  OMIM