FZD5

Highest pathogenic variant AF is 0.000018018556

Gene type

protein_coding

Transcript type

protein_coding

Transcript

ENST00000295417

Coding exons

1

Length

6978

Individuals with no LoFs

125500

Homozygous LoFs

0

Heterozygous LoFs

5

Defined

125505

p

0.0000199

Function

FUNCTION: Receptor for Wnt proteins (PubMed:9054360, PubMed:10097073, PubMed:20530549). Can activate WNT2, WNT10B, WNT5A, but not WNT2B or WNT4 (in vitro); the in vivo situation may be different since not all of these are known to be coexpressed (By similarity). In neurons, activation of WNT7A promotes formation of synapses (PubMed:20530549). Functions in the canonical Wnt/beta-catenin signaling pathway. The canonical Wnt/beta-catenin signaling pathway leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes (By similarity). 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 (Probable). Plays a role in yolk sac angiogenesis and in placental vascularization (By similarity). {ECO:0000250|UniProtKB:Q9EQD0, ECO:0000269|PubMed:10097073, ECO:0000269|PubMed:20530549, ECO:0000269|PubMed:9054360, ECO:0000305}.;