FZD9

Chr 7

frizzled class receptor 9

Also known as: CD349, FZD3

NCBI Gene: 8326ENSG00000188763UniProt: O00144

Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD9 gene is located within the Williams syndrome common deletion region of chromosome 7, and heterozygous deletion of the FZD9 gene may contribute to the Williams syndrome phenotype. FZD9 is expressed predominantly in brain, testis, eye, skeletal muscle, and kidney. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
1
Active trials
7
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.83
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.83LOEUF
pLI 0.002
Z-score 2.05
OE 0.44 (0.25–0.83)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
2.01Z-score
OE missense 0.71 (0.65–0.79)
275 obs / 386.0 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.44 (0.25–0.83)
0≤0.351.4
Missense OE?0.71 (0.65–0.79)
0≤0.61.4
Synonymous OE?0.85
0≤1.21.6
LoF obs/exp: 7 / 15.8Missense obs/exp: 275 / 386.0Syn Z: 1.64

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

FZD9 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients