FZD6 Chromosome 8
Frizzled class receptor 6
Upload your DNA to see your personal genotypes for variants in FZD6.
What This Gene Does
This gene represents a member of the 'frizzled' gene family, which encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The protein encoded by this family member contains a signal peptide, a cysteine-rich domain in the N-terminal extracellular region, and seven transmembrane domains, but unlike other family members, this protein does not contain a C-terminal PDZ domain-binding motif. This protein functions as a negative regulator of the canonical Wnt/beta-catenin signaling cascade, thereby inhibiting the processes that trigger oncogenic transformation, cell proliferation, and inhibition of apoptosis. Alternative splicing results in multiple transcript variants, some of which do not encode a protein with a predicted signal peptide.[provided by RefSeq, Aug 2011]
Gene Info
Gene Group
G protein-coupled receptors, Class F frizzled
Locus Type
gene with protein product
Location
8q22.3
Ensembl
ENSG00000164930
Associated Conditions (4)
Nonsyndromic congenital nail disorder 1
Non-immune hydrops fetalis
Nail disease
Nephroblastoma
Key Variants
RS786205672
Conflicting classifications of pathogenicity
Nonsyndromic congenital nail disorder 1, Non-immune hydrops fetalis, Nonsyndromic congenital nail disorder 1
Health Risk
RS1815013208
Likely pathogenic
Nonsyndromic congenital nail disorder 1, Nonsyndromic congenital nail disorder 1
Health Risk
RS1371244150
Pathogenic
Nonsyndromic congenital nail disorder 1, Nonsyndromic congenital nail disorder 1
Health Risk
RS151339002
Pathogenic
Nonsyndromic congenital nail disorder 1, Nail disease, Nonsyndromic congenital nail disorder 1
Health Risk
RS151339003
Pathogenic
Nonsyndromic congenital nail disorder 1, Nail disease, Nonsyndromic congenital nail disorder 1
Health Risk
RS766284226
Pathogenic
Nonsyndromic congenital nail disorder 1, Nonsyndromic congenital nail disorder 1
Health Risk
RS769116796
Pathogenic
Nephroblastoma, Nephroblastoma
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS786205672 | Health Risk | Conflicting classifications of pathogenicity | Nonsyndromic congenital nail disorder 1, Non-immune hydrops fetalis, Nonsyndromic congenital nail disorder 1 |
| RS1815013208 | Health Risk | Likely pathogenic | Nonsyndromic congenital nail disorder 1, Nonsyndromic congenital nail disorder 1 |
| RS1371244150 | Health Risk | Pathogenic | Nonsyndromic congenital nail disorder 1, Nonsyndromic congenital nail disorder 1 |
| RS151339002 | Health Risk | Pathogenic | Nonsyndromic congenital nail disorder 1, Nail disease, Nonsyndromic congenital nail disorder 1 |
| RS151339003 | Health Risk | Pathogenic | Nonsyndromic congenital nail disorder 1, Nail disease, Nonsyndromic congenital nail disorder 1 |
| RS766284226 | Health Risk | Pathogenic | Nonsyndromic congenital nail disorder 1, Nonsyndromic congenital nail disorder 1 |
| RS769116796 | Health Risk | Pathogenic | Nephroblastoma, Nephroblastoma |