SOX5 Chromosome 12
SRY-box transcription factor 5
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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. The encoded protein may play a role in chondrogenesis. A pseudogene of this gene is located on chromosome 8. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
SRY-box transcription factors
Locus Type
gene with protein product
Location
12p12.1
Ensembl
ENSG00000134532
Associated Conditions (13)
Inborn genetic diseases
Lamb-Shaffer syndrome
Neurodevelopmental delay
Aplasia/Hypoplasia of the nails
Generalized hypotonia
Central hypotonia
Thoracolumbar scoliosis
Strabismus
Severe global developmental delay
Epileptic encephalopathy
Intellectual disability
Cerebral visual impairment and intellectual disability
See cases
Key Variants
RS141628352
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1591908609
Conflicting classifications of pathogenicity
Lamb-Shaffer syndrome, Inborn genetic diseases, Neurodevelopmental delay
Health Risk
RS2135892447
Conflicting classifications of pathogenicity
Health Risk
RS780885506
Conflicting classifications of pathogenicity
Inborn genetic diseases, Lamb-Shaffer syndrome, Inborn genetic diseases
Health Risk
RS1057518845
Likely pathogenic
Aplasia/Hypoplasia of the nails, Generalized hypotonia, Central hypotonia
Health Risk
RS1057518928
Likely pathogenic
Severe global developmental delay, Generalized hypotonia, Epileptic encephalopathy
Health Risk
RS1135401816
Likely pathogenic
Lamb-Shaffer syndrome, Intellectual disability, Lamb-Shaffer syndrome
Health Risk
RS1420871345
Likely pathogenic
Intellectual disability, Intellectual disability
Health Risk
RS1565669269
Likely pathogenic
Health Risk
RS1591833522
Likely pathogenic
Lamb-Shaffer syndrome, Lamb-Shaffer syndrome, Lamb-Shaffer syndrome
Health Risk
RS1591908568
Likely pathogenic
Lamb-Shaffer syndrome, Lamb-Shaffer syndrome
Health Risk
RS1940534444
Likely pathogenic
Lamb-Shaffer syndrome, Lamb-Shaffer syndrome
Health Risk
All Variants (63)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2547741003 | Health Risk | Pathogenic | Lamb-Shaffer syndrome, Lamb-Shaffer syndrome |
| RS2547813133 | Health Risk | Pathogenic | — |
| RS2547813256 | Health Risk | Pathogenic | — |
| RS2548148441 | Health Risk | Pathogenic | — |
| RS2548455186 | Health Risk | Pathogenic | Lamb-Shaffer syndrome, Lamb-Shaffer syndrome |
| RS869025321 | Health Risk | Pathogenic | Lamb-Shaffer syndrome, Lamb-Shaffer syndrome |
| RS895607185 | Health Risk | Pathogenic | Lamb-Shaffer syndrome, Inborn genetic diseases, Lamb-Shaffer syndrome |
| RS998320959 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1565669640 | Health Risk | Pathogenic/Likely pathogenic | Lamb-Shaffer syndrome, Inborn genetic diseases, Lamb-Shaffer syndrome |
| RS1591908680 | Health Risk | Pathogenic/Likely pathogenic | Lamb-Shaffer syndrome, Lamb-Shaffer syndrome |
| RS2547813307 | Health Risk | Pathogenic/Likely pathogenic | Lamb-Shaffer syndrome, Lamb-Shaffer syndrome |
| RS767241917 | Health Risk | Pathogenic/Likely pathogenic | Lamb-Shaffer syndrome, Lamb-Shaffer syndrome |
| RS773832380 | Health Risk | Pathogenic/Likely pathogenic | Lamb-Shaffer syndrome, Lamb-Shaffer syndrome |