AlphaFold predicted structure
FZD2 · Q14332
Mean pLDDT
83.4/ 100
Confident
565 residues
Confidence breakdown
- Very high(≥ 90)60%
- Confident(70–90)22%
- Low(50–70)5%
- Very low(< 50)13%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
FZD2
Chr 17q21.31frizzled class receptor 2
- MANE:
- ENST00000315323.5
Annotations refreshed 9 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLimb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownSkeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disease associations (Open Targets)
autosomal dominant omodysplasia
0.74Robinow syndrome
0.62autosomal dominant Robinow syndrome
0.60omodysplasia
0.46Short stature
0.29ovarian carcinoma
0.16high grade ovarian serous adenocarcinoma
0.13keratoconus
0.11breast cancer
0.11amelogenesis imperfecta
0.10
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Frizzled-2
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 (PubMed:25759469). 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