SOX4 Chromosome 6
SRY-box transcription factor 4
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What This Gene Does
This intronless 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, such as syndecan binding protein (syntenin). The protein may function in the apoptosis pathway leading to cell death as well as to tumorigenesis and may mediate downstream effects of parathyroid hormone (PTH) and PTH-related protein (PTHrP) in bone development. The solution structure has been resolved for the HMG-box of a similar mouse protein. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
SRY-box transcription factors
Locus Type
gene with protein product
Location
6p22.3
Ensembl
ENSG00000124766
Associated Conditions (7)
Inborn genetic diseases
Coffin-Siris syndrome 10
SOX4-related disorder
Mild intellectual disability
Developmental delay
Mild facial and digital morphological abnormalities
Intellectual disability
Key Variants
RS1008328462
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1171444727
Conflicting classifications of pathogenicity
Coffin-Siris syndrome 10, Coffin-Siris syndrome 10
Health Risk
RS1763098947
Conflicting classifications of pathogenicity
Health Risk
RS1763112571
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS542004893
Conflicting classifications of pathogenicity
Coffin-Siris syndrome 10, Coffin-Siris syndrome 10
Health Risk
RS552547778
Conflicting classifications of pathogenicity
SOX4-related disorder, Coffin-Siris syndrome 10, SOX4-related disorder
Health Risk
RS781512324
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1334099693
Likely pathogenic
Mild intellectual disability, Coffin-Siris syndrome 10, Developmental delay
Health Risk
RS2532639300
Likely pathogenic
Coffin-Siris syndrome 10, Coffin-Siris syndrome 10
Health Risk
RS2532639461
Likely pathogenic
Inborn genetic diseases, Coffin-Siris syndrome 10, Inborn genetic diseases
Health Risk
RS2532639524
Likely pathogenic
Coffin-Siris syndrome 10, Coffin-Siris syndrome 10
Health Risk
RS2532640592
Likely pathogenic
SOX4-related disorder, SOX4-related disorder
Health Risk
All Variants (22)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1008328462 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1171444727 | Health Risk | Conflicting classifications of pathogenicity | Coffin-Siris syndrome 10, Coffin-Siris syndrome 10 |
| RS1763098947 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1763112571 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS542004893 | Health Risk | Conflicting classifications of pathogenicity | Coffin-Siris syndrome 10, Coffin-Siris syndrome 10 |
| RS552547778 | Health Risk | Conflicting classifications of pathogenicity | SOX4-related disorder, Coffin-Siris syndrome 10, SOX4-related disorder |
| RS781512324 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1334099693 | Health Risk | Likely pathogenic | Mild intellectual disability, Coffin-Siris syndrome 10, Developmental delay |
| RS2532639300 | Health Risk | Likely pathogenic | Coffin-Siris syndrome 10, Coffin-Siris syndrome 10 |
| RS2532639461 | Health Risk | Likely pathogenic | Inborn genetic diseases, Coffin-Siris syndrome 10, Inborn genetic diseases |
| RS2532639524 | Health Risk | Likely pathogenic | Coffin-Siris syndrome 10, Coffin-Siris syndrome 10 |
| RS2532640592 | Health Risk | Likely pathogenic | SOX4-related disorder, SOX4-related disorder |
| RS763326505 | Health Risk | Likely pathogenic | — |
| RS1305965061 | Health Risk | Pathogenic | Coffin-Siris syndrome 10, Coffin-Siris syndrome 10 |
| RS2113557164 | Health Risk | Pathogenic | — |
| RS2532639089 | Health Risk | Pathogenic | Coffin-Siris syndrome 10, Coffin-Siris syndrome 10 |
| RS2532639544 | Health Risk | Pathogenic | Coffin-Siris syndrome 10, Coffin-Siris syndrome 10 |
| RS2532642024 | Health Risk | Pathogenic | Coffin-Siris syndrome 10, Coffin-Siris syndrome 10 |
| RS1464282327 | Health Risk | Pathogenic/Likely pathogenic | Coffin-Siris syndrome 10, Intellectual disability, Developmental delay |
| RS1582601669 | Health Risk | Pathogenic/Likely pathogenic | Coffin-Siris syndrome 10, Intellectual disability, Developmental delay |
| RS1582601747 | Health Risk | Pathogenic/Likely pathogenic | Coffin-Siris syndrome 10, Intellectual disability, Developmental delay |
| RS2113558441 | Health Risk | Pathogenic/Likely pathogenic | Coffin-Siris syndrome 10, Coffin-Siris syndrome 10 |