SOX17 Chromosome 8
SRY-box transcription factor 17
Upload your DNA to see your personal genotypes for variants in SOX17.
What This Gene Does
This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
SRY-box transcription factors
Locus Type
gene with protein product
Location
8q11.23
Ensembl
ENSG00000164736
Associated Conditions (6)
Inborn genetic diseases
Vesicoureteral reflux 3
Chronic kidney disease
SOX17-related disorder
Sox17- related disorders
Pulmonary arterial hypertension
Key Variants
RS2536310659
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS267607082
Conflicting classifications of pathogenicity
Vesicoureteral reflux 3, Vesicoureteral reflux 3
Health Risk
RS530310740
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS564144826
Conflicting classifications of pathogenicity
Chronic kidney disease, SOX17-related disorder, Chronic kidney disease
Health Risk
RS577354460
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS62642516
Conflicting classifications of pathogenicity
SOX17-related disorder, Inborn genetic diseases, SOX17-related disorder
Health Risk
RS754467288
Conflicting classifications of pathogenicity
Vesicoureteral reflux 3, Vesicoureteral reflux 3
Health Risk
RS1221216215
Likely pathogenic
Vesicoureteral reflux 3, Vesicoureteral reflux 3
Health Risk
RS2129278076
Likely pathogenic
Health Risk
RS2536310605
Likely pathogenic
Sox17- related disorders, Sox17- related disorders
Health Risk
RS1586329828
Pathogenic
Health Risk
RS2129277991
Pathogenic
Pulmonary arterial hypertension, Pulmonary arterial hypertension
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2536310659 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS267607082 | Health Risk | Conflicting classifications of pathogenicity | Vesicoureteral reflux 3, Vesicoureteral reflux 3 |
| RS530310740 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS564144826 | Health Risk | Conflicting classifications of pathogenicity | Chronic kidney disease, SOX17-related disorder, Chronic kidney disease |
| RS577354460 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS62642516 | Health Risk | Conflicting classifications of pathogenicity | SOX17-related disorder, Inborn genetic diseases, SOX17-related disorder |
| RS754467288 | Health Risk | Conflicting classifications of pathogenicity | Vesicoureteral reflux 3, Vesicoureteral reflux 3 |
| RS1221216215 | Health Risk | Likely pathogenic | Vesicoureteral reflux 3, Vesicoureteral reflux 3 |
| RS2129278076 | Health Risk | Likely pathogenic | — |
| RS2536310605 | Health Risk | Likely pathogenic | Sox17- related disorders, Sox17- related disorders |
| RS1586329828 | Health Risk | Pathogenic | — |
| RS2129277991 | Health Risk | Pathogenic | Pulmonary arterial hypertension, Pulmonary arterial hypertension |