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SOX9

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.
SOX9
Protein class

Cancer-related genes, Disease related genes, Human disease related genes, Transcription factors

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Squamous epithelial cells, Cholangiocytes, Basal squamous epithelial cells, Astrocytes, Gastric mucus-secreting cells, Muller glia cells, Breast glandular cells)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Cell line enhanced (AN3-CA, Hep G2, OE19, U-251 MG)

Interaction

Homodimer; homodimerization is required for activity (By similarity). Interacts (via C-terminus) with ZNF219; forming a complex that binds to the COL2A1 promoter and activates COL2A1 expression (By similarity). Interacts with DDRGK1 (PubMed:28263186). Interacts with EP300/p300 (PubMed:12732631). Interacts with beta-catenin (CTNNB1); inhibiting CTNNB1 activity by competing with the binding sites of TCF/LEF within CTNNB1 (By similarity).

Molecular function

Activator, DNA-binding

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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