FZD2 Chromosome 17
Frizzled class receptor 2
Upload your DNA to see your personal genotypes for variants in FZD2.
What This Gene Does
This intronless gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the wingless type MMTV integration site family of signaling proteins. This gene encodes a protein that is coupled to the beta-catenin canonical signaling pathway. Competition between the wingless-type MMTV integration site family, member 3A and wingless-type MMTV integration site family, member 5A gene products for binding of this protein is thought to regulate the beta-catenin-dependent and -independent pathways. [provided by RefSeq, Dec 2010]
Gene Info
Gene Group
G protein-coupled receptors, Class F frizzled
Locus Type
gene with protein product
Location
17q21.31
Ensembl
ENSG00000180340
Associated Conditions (6)
FZD2-related disorder
Autosomal dominant Robinow syndrome 2
Autosomal dominant Robinow syndrome 1
Autosomal dominant Robinow syndrome 3
Autosomal dominant omodysplasia
Short stature
Key Variants
RS150027138
Conflicting classifications of pathogenicity
FZD2-related disorder, FZD2-related disorder
Health Risk
RS1555657045
Conflicting classifications of pathogenicity
Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 2
Health Risk
RS552299284
Conflicting classifications of pathogenicity
Health Risk
RS1223920489
Likely pathogenic
Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 1, Autosomal dominant Robinow syndrome 2
Health Risk
RS1555657073
Likely pathogenic
Autosomal dominant Robinow syndrome 3, Autosomal dominant omodysplasia, Autosomal dominant Robinow syndrome 3
Health Risk
RS1555657074
Likely pathogenic
Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 2
Health Risk
RS1568105562
Likely pathogenic
Short stature, Short stature
Health Risk
RS2544585235
Likely pathogenic
Health Risk
RS1568105666
Pathogenic
Autosomal dominant omodysplasia, Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 1
Health Risk
RS2144572390
Pathogenic
Autosomal dominant Robinow syndrome 1, Autosomal dominant Robinow syndrome 1
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS150027138 | Health Risk | Conflicting classifications of pathogenicity | FZD2-related disorder, FZD2-related disorder |
| RS1555657045 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 2 |
| RS552299284 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1223920489 | Health Risk | Likely pathogenic | Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 1, Autosomal dominant Robinow syndrome 2 |
| RS1555657073 | Health Risk | Likely pathogenic | Autosomal dominant Robinow syndrome 3, Autosomal dominant omodysplasia, Autosomal dominant Robinow syndrome 3 |
| RS1555657074 | Health Risk | Likely pathogenic | Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 2 |
| RS1568105562 | Health Risk | Likely pathogenic | Short stature, Short stature |
| RS2544585235 | Health Risk | Likely pathogenic | — |
| RS1568105666 | Health Risk | Pathogenic | Autosomal dominant omodysplasia, Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 1 |
| RS2144572390 | Health Risk | Pathogenic | Autosomal dominant Robinow syndrome 1, Autosomal dominant Robinow syndrome 1 |