FZD4 Chromosome 11
Frizzled class receptor 4
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What This Gene Does
This 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. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. This protein may play a role as a positive regulator of the Wingless type MMTV integration site signaling pathway. A transcript variant retaining intronic sequence and encoding a shorter isoform has been described, however, its expression is not supported by other experimental evidence. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"G protein-coupled receptors, Class F frizzled|CD molecules"
Locus Type
gene with protein product
Location
11q14.2
Ensembl
ENSG00000174804
Associated Conditions (10)
Inborn genetic diseases
Retinopathy of prematurity
FZD4-related disorder
Exudative vitreoretinopathy 1
Retinal dystrophy
Familial exudative vitreoretinopathy
Coats disease
Atrophia bulborum hereditaria
Exudative vitreoretinopathy
digenic
Key Variants
RS1036091905
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS104894223
Conflicting classifications of pathogenicity
Retinopathy of prematurity, FZD4-related disorder, Retinopathy of prematurity
Health Risk
RS1050752347
Conflicting classifications of pathogenicity
Exudative vitreoretinopathy 1, Exudative vitreoretinopathy 1
Health Risk
RS113917021
Conflicting classifications of pathogenicity
Health Risk
RS1280981405
Conflicting classifications of pathogenicity
Exudative vitreoretinopathy 1, Exudative vitreoretinopathy 1
Health Risk
RS140601725
Conflicting classifications of pathogenicity
Exudative vitreoretinopathy 1, Exudative vitreoretinopathy 1
Health Risk
RS146895719
Conflicting classifications of pathogenicity
Exudative vitreoretinopathy 1, Inborn genetic diseases, Exudative vitreoretinopathy 1
Health Risk
RS147766472
Conflicting classifications of pathogenicity
Health Risk
RS148672481
Conflicting classifications of pathogenicity
Health Risk
RS1949297493
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS201256460
Conflicting classifications of pathogenicity
Exudative vitreoretinopathy 1, Exudative vitreoretinopathy 1
Health Risk
RS376854255
Conflicting classifications of pathogenicity
Exudative vitreoretinopathy 1, Retinal dystrophy, Exudative vitreoretinopathy 1
Health Risk
All Variants (80)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2495866336 | Health Risk | Pathogenic | — |
| RS2495867343 | Health Risk | Pathogenic | — |
| RS2495867469 | Health Risk | Pathogenic | — |
| RS2495867978 | Health Risk | Pathogenic | — |
| RS2495868177 | Health Risk | Pathogenic | — |
| RS2495868322 | Health Risk | Pathogenic | — |
| RS2495869022 | Health Risk | Pathogenic | — |
| RS2495869044 | Health Risk | Pathogenic | — |
| RS2495874029 | Health Risk | Pathogenic | Exudative vitreoretinopathy 1, Exudative vitreoretinopathy 1 |
| RS2495874143 | Health Risk | Pathogenic | — |
| RS2495874344 | Health Risk | Pathogenic | Exudative vitreoretinopathy 1, Exudative vitreoretinopathy 1 |
| RS2495874556 | Health Risk | Pathogenic | — |
| RS2495874844 | Health Risk | Pathogenic | — |
| RS2495875075 | Health Risk | Pathogenic | — |
| RS2495875214 | Health Risk | Pathogenic | — |
| RS767255289 | Health Risk | Pathogenic | — |
| RS779827851 | Health Risk | Pathogenic | — |
| RS80358284 | Health Risk | Pathogenic | Coats disease, Familial exudative vitreoretinopathy, Exudative vitreoretinopathy 1 |
| RS80358289 | Health Risk | Pathogenic | — |
| RS80358290 | Health Risk | Pathogenic | — |
| RS80358292 | Health Risk | Pathogenic | Exudative vitreoretinopathy 1, Exudative vitreoretinopathy 1 |
| RS80358294 | Health Risk | Pathogenic | Exudative vitreoretinopathy 1, Exudative vitreoretinopathy, digenic |
| RS80358296 | Health Risk | Pathogenic | — |
| RS80358301 | Health Risk | Pathogenic | Exudative vitreoretinopathy 1, Exudative vitreoretinopathy 1 |
| RS80358302 | Health Risk | Pathogenic | — |
| RS2495865692 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS80358295 | Health Risk | Pathogenic/Likely pathogenic | Coats disease, Familial exudative vitreoretinopathy, Exudative vitreoretinopathy 1 |
| RS80358299 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS80358303 | Health Risk | Pathogenic/Likely pathogenic | Exudative vitreoretinopathy 1, Exudative vitreoretinopathy 1 |
| RS80358304 | Health Risk | Pathogenic/Likely pathogenic | — |