SOX6

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.

Full Name

SRY-Box 6

Function

Transcription factor that plays a key role in several developmental processes, including neurogenesis, chondrocytes differentiation and cartilage formation (Probable). Specifically binds the 5'-AACAAT-3' DNA motif present in enhancers and super-enhancers and promotes expression of genes important for chondrogenesis. Required for overt chondrogenesis when condensed prechondrocytes differentiate into early stage chondrocytes: SOX5 and SOX6 cooperatively bind with SOX9 on active enhancers and super-enhancers associated with cartilage-specific genes, and thereby potentiate SOX9's ability to transactivate. Not involved in precartilaginous condensation, the first step in chondrogenesis, during which skeletal progenitors differentiate into prechondrocytes. Together with SOX5, required to form and maintain a pool of highly proliferating chondroblasts between epiphyses and metaphyses, to form columnar chondroblasts, delay chondrocyte prehypertrophy but promote hypertrophy, and to delay terminal differentiation of chondrocytes on contact with ossification fronts. Binds to the proximal promoter region of the myelin protein MPZ gene, and is thereby involved in the differentiation of oligodendroglia in the developing spinal tube. Binds to the gene promoter of MBP and acts as a transcriptional repressor (By similarity).

Biological Process

Biological Process brain developmentManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process cartilage condensationISS:UniProtKB
Biological Process cartilage developmentISS:UniProtKB
Biological Process cell fate commitmentManual Assertion Based On ExperimentIBA:GO_Central
Biological Process cellular response to transforming growth factor beta stimulusManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process central nervous system developmentManual Assertion Based On ExperimentIBA:GO_Central
Biological Process chondrocyte differentiationISS:UniProtKB
Biological Process muscle organ development1 PublicationNAS:UniProtKB
Biological Process negative regulation of cardiac muscle cell differentiationManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process positive regulation of cartilage developmentManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process positive regulation of chondrocyte differentiationManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process positive regulation of mesenchymal stem cell differentiationManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process regulation of DNA-templated transcription1 PublicationNAS:UniProtKB
Biological Process regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Biological Process spinal cord oligodendrocyte cell differentiationISS:UniProtKB

Cellular Location

Nucleus
Cytoplasm

Involvement in disease

Tolchin-Le Caignec syndrome (TOLCAS):
An autosomal dominant disorder characterized by mildly to moderately impaired intellectual development and behavioral problems, such as autism, attention deficit and hyperactivity disorder, and aggressive episodes. Highly variable, additional features include osteochondroma, craniosynostosis, dysmorphic facies, arachnodactyly, and large head circumference.

PTM

Sumoylation inhibits the transcriptional activity.