SFRP4 Chromosome 7
Secreted frizzled related protein 4
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What This Gene Does
Secreted frizzled-related protein 4 (SFRP4) is a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. The expression of SFRP4 in ventricular myocardium correlates with apoptosis related gene expression. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Secreted frizzled-related proteins
Locus Type
gene with protein product
Location
7p14.1
Ensembl
ENSG00000106483
Associated Conditions (1)
Pyle metaphyseal dysplasia
Key Variants
RS1344808304
Likely pathogenic
Pyle metaphyseal dysplasia, Pyle metaphyseal dysplasia
Health Risk
RS2483692133
Likely pathogenic
Health Risk
RS758308395
Likely pathogenic
Pyle metaphyseal dysplasia, Pyle metaphyseal dysplasia
Health Risk
RS1785505791
Pathogenic
Health Risk
RS755007671
Pathogenic
Pyle metaphyseal dysplasia, Pyle metaphyseal dysplasia
Health Risk
RS756881667
Pathogenic
Health Risk
RS780735559
Pathogenic
Health Risk
RS879253778
Pathogenic
Pyle metaphyseal dysplasia, Pyle metaphyseal dysplasia
Health Risk
RS879255603
Pathogenic
Pyle metaphyseal dysplasia, Pyle metaphyseal dysplasia
Health Risk
RS946302056
Pathogenic
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1344808304 | Health Risk | Likely pathogenic | Pyle metaphyseal dysplasia, Pyle metaphyseal dysplasia |
| RS2483692133 | Health Risk | Likely pathogenic | — |
| RS758308395 | Health Risk | Likely pathogenic | Pyle metaphyseal dysplasia, Pyle metaphyseal dysplasia |
| RS1785505791 | Health Risk | Pathogenic | — |
| RS755007671 | Health Risk | Pathogenic | Pyle metaphyseal dysplasia, Pyle metaphyseal dysplasia |
| RS756881667 | Health Risk | Pathogenic | — |
| RS780735559 | Health Risk | Pathogenic | — |
| RS879253778 | Health Risk | Pathogenic | Pyle metaphyseal dysplasia, Pyle metaphyseal dysplasia |
| RS879255603 | Health Risk | Pathogenic | Pyle metaphyseal dysplasia, Pyle metaphyseal dysplasia |
| RS946302056 | Health Risk | Pathogenic | — |