SOX6 Chromosome 11
SRY-box transcription factor 6
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What This Gene Does
This gene encodes a member of the D subfamily of sex determining region y-related transcription factors that are characterized by a conserved DNA-binding domain termed the high mobility group box and by their ability to bind the minor groove of DNA. The encoded protein is a transcriptional activator that is required for normal development of the central nervous system, chondrogenesis and maintenance of cardiac and skeletal muscle cells. The encoded protein interacts with other family members to cooperatively activate gene expression. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]
Gene Info
Gene Group
"SRY-box transcription factors|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
11p15.2
Ensembl
ENSG00000110693
Associated Conditions (5)
Inborn genetic diseases
Neurodevelopmental disorder
Tolchin-Le Caignec syndrome
Intellectual disability
Craniosynostosis syndrome
Key Variants
RS141718442
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS144466666
Conflicting classifications of pathogenicity
Health Risk
RS185225806
Conflicting classifications of pathogenicity
Health Risk
RS201066442
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS376387633
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS377228366
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1849239700
Likely pathogenic
Health Risk
RS2119818229
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2119819668
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2134302287
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2493954647
Likely pathogenic
Tolchin-Le Caignec syndrome, Tolchin-Le Caignec syndrome
Health Risk
RS2493978793
Likely pathogenic
Health Risk
All Variants (31)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141718442 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS144466666 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS185225806 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201066442 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS376387633 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS377228366 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1849239700 | Health Risk | Likely pathogenic | — |
| RS2119818229 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2119819668 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2134302287 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2493954647 | Health Risk | Likely pathogenic | Tolchin-Le Caignec syndrome, Tolchin-Le Caignec syndrome |
| RS2493978793 | Health Risk | Likely pathogenic | — |
| RS2494128138 | Health Risk | Likely pathogenic | Tolchin-Le Caignec syndrome, Tolchin-Le Caignec syndrome |
| RS2494155968 | Health Risk | Likely pathogenic | Tolchin-Le Caignec syndrome, Tolchin-Le Caignec syndrome |
| RS763570958 | Health Risk | Likely pathogenic | — |
| RS889177031 | Health Risk | Likely pathogenic | — |
| RS1554941241 | Health Risk | Pathogenic | Tolchin-Le Caignec syndrome, Tolchin-Le Caignec syndrome |
| RS1849236698 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS1851490729 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1853841874 | Health Risk | Pathogenic | Tolchin-Le Caignec syndrome, Tolchin-Le Caignec syndrome |
| RS1853958124 | Health Risk | Pathogenic | Tolchin-Le Caignec syndrome, Tolchin-Le Caignec syndrome |
| RS1855823129 | Health Risk | Pathogenic | Tolchin-Le Caignec syndrome, Craniosynostosis syndrome, Tolchin-Le Caignec syndrome |
| RS2119818223 | Health Risk | Pathogenic | Tolchin-Le Caignec syndrome, Tolchin-Le Caignec syndrome |
| RS2133913091 | Health Risk | Pathogenic | — |
| RS2133975843 | Health Risk | Pathogenic | Tolchin-Le Caignec syndrome, Tolchin-Le Caignec syndrome |
| RS2493971978 | Health Risk | Pathogenic | Tolchin-Le Caignec syndrome, Tolchin-Le Caignec syndrome |
| RS2494225430 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2494271127 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS376018780 | Health Risk | Pathogenic | Tolchin-Le Caignec syndrome, Tolchin-Le Caignec syndrome |
| RS746904214 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2494128054 | Health Risk | Pathogenic/Likely pathogenic | Tolchin-Le Caignec syndrome, Tolchin-Le Caignec syndrome |