SOX9 Chromosome 17
SRY-box transcription factor 9
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What This Gene Does
The protein encoded by this gene recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates transcription of the anti-Muellerian hormone (AMH) gene. Deficiencies lead to the skeletal malformation syndrome campomelic dysplasia, frequently with sex reversal. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
SRY-box transcription factors
Locus Type
gene with protein product
Location
17q24.3
Ensembl
ENSG00000125398
Associated Conditions (10)
Inborn genetic diseases
Camptomelic dysplasia
SOX9-related disorder
Connective tissue disorder
Neoplasm
Bent bone dysplasia
ACAMPOMELIC CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL
Colorectal cancer
See cases
Key Variants
RS1255573826
Conflicting classifications of pathogenicity
Inborn genetic diseases, Camptomelic dysplasia, Inborn genetic diseases
Health Risk
RS143697828
Conflicting classifications of pathogenicity
Inborn genetic diseases, Camptomelic dysplasia, Inborn genetic diseases
Health Risk
RS144824678
Conflicting classifications of pathogenicity
Camptomelic dysplasia, Camptomelic dysplasia
Health Risk
RS202028563
Conflicting classifications of pathogenicity
Camptomelic dysplasia, Camptomelic dysplasia
Health Risk
RS202115157
Conflicting classifications of pathogenicity
Camptomelic dysplasia, Camptomelic dysplasia
Health Risk
RS2143240394
Conflicting classifications of pathogenicity
Camptomelic dysplasia, Camptomelic dysplasia
Health Risk
RS2229989
Conflicting classifications of pathogenicity
Camptomelic dysplasia, Inborn genetic diseases, Camptomelic dysplasia
Health Risk
RS367966473
Conflicting classifications of pathogenicity
Camptomelic dysplasia, SOX9-related disorder, Camptomelic dysplasia
Health Risk
RS370951695
Conflicting classifications of pathogenicity
Health Risk
RS542727010
Conflicting classifications of pathogenicity
Inborn genetic diseases, Camptomelic dysplasia, Inborn genetic diseases
Health Risk
RS564339518
Conflicting classifications of pathogenicity
Camptomelic dysplasia, Camptomelic dysplasia
Health Risk
RS566929141
Conflicting classifications of pathogenicity
Camptomelic dysplasia, Camptomelic dysplasia
Health Risk
All Variants (125)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2143251627 | Health Risk | Pathogenic | CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL |
| RS2143254357 | Health Risk | Pathogenic | Camptomelic dysplasia, Camptomelic dysplasia |
| RS2509622985 | Health Risk | Pathogenic | SOX9-related disorder, SOX9-related disorder |
| RS2509623048 | Health Risk | Pathogenic | Camptomelic dysplasia, Camptomelic dysplasia |
| RS2509623396 | Health Risk | Pathogenic | Camptomelic dysplasia, Camptomelic dysplasia |
| RS2509624417 | Health Risk | Pathogenic | Camptomelic dysplasia, Camptomelic dysplasia |
| RS2509626302 | Health Risk | Pathogenic | Camptomelic dysplasia, Camptomelic dysplasia |
| RS2509627128 | Health Risk | Pathogenic | Camptomelic dysplasia, Camptomelic dysplasia |
| RS2509627304 | Health Risk | Pathogenic | — |
| RS2509627503 | Health Risk | Pathogenic | Camptomelic dysplasia, Camptomelic dysplasia |
| RS28940282 | Health Risk | Pathogenic | ACAMPOMELIC CAMPOMELIC DYSPLASIA, ACAMPOMELIC CAMPOMELIC DYSPLASIA |
| RS373719106 | Health Risk | Pathogenic | — |
| RS587776541 | Health Risk | Pathogenic | CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, Camptomelic dysplasia, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL |
| RS759597531 | Health Risk | Pathogenic | CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL |
| RS80338688 | Health Risk | Pathogenic | CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, Camptomelic dysplasia, Connective tissue disorder |
| RS886039700 | Health Risk | Pathogenic | — |
| RS886043831 | Health Risk | Pathogenic | — |
| RS1324081394 | Health Risk | Pathogenic/Likely pathogenic | Camptomelic dysplasia, Camptomelic dysplasia |
| RS1339655148 | Health Risk | Pathogenic/Likely pathogenic | Camptomelic dysplasia, Camptomelic dysplasia |
| RS1341243329 | Health Risk | Pathogenic/Likely pathogenic | Camptomelic dysplasia, Camptomelic dysplasia |
| RS1425166755 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, SOX9-related disorder, Inborn genetic diseases |
| RS1598176852 | Health Risk | Pathogenic/Likely pathogenic | Camptomelic dysplasia, Camptomelic dysplasia |
| RS2143245214 | Health Risk | Pathogenic/Likely pathogenic | Camptomelic dysplasia, Camptomelic dysplasia |
| RS2143245422 | Health Risk | Pathogenic/Likely pathogenic | Camptomelic dysplasia, Camptomelic dysplasia |
| RS866706988 | Health Risk | Pathogenic/Likely pathogenic | Camptomelic dysplasia, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, See cases |