FZD5

Chr 2q33.3

frizzled class receptor 5

Aliases:: HFZ5, DKFZP434E2135
MANE:: ENST00000295417.4

OMIM: 601723 ↗NCBI: 7855 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

FZD5 · Q13467

v62025-08-01

Predicted Aligned Error matrix for FZD5 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

81.6/ 100

Confident

585 residues

Confidence breakdown

Very high(≥ 90)55%
Confident(70–90)23%
Low(50–70)8%
Very low(< 50)14%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ocular coloboma
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

microphthalmia/coloboma 11
0.67
coloboma
0.55
coloboma of optic nerve
0.38
coloboma of choroid and retina
0.37
coloboma of eyelid
0.37
coloboma of macula
0.37
coloboma of eye lens
0.37
coloboma of iris
0.37
Coloboma of optic papilla
0.37
neurodegenerative disease
0.36

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Frizzled-5

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)