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SOX9 Plays an important role in the normal skeletal development. May regulate the expression of other genes involved in chondrogenesis by acting as a transcription factor for these genes. Defects in SOX9 are the cause of campomelic dysplasia (CMD1). CMD1 is a rare, often lethal, dominantly inherited, congenital osteochondrodysplasia, associated with male- to-female autosomal sex reversal in two-thirds of the affected karyotypic males. A disease of the newborn characterized by congenital bowing and angulation of long bones, unusually small scapulae, deformed pelvis and spine and a missing pair of ribs. Craniofacial defects such as cleft palate, micrognatia, flat face and hypertelorism are common. Various defects of the ear are often evident, affecting the cochlea, malleus incus, stapes and tympanum. Most patients die soon after birth due to respiratory distress which has been attributed to hypoplasia of the tracheobronchial cartilage and small thoracic cage. Defects in SOX9 are the cause of 46,XX sex reversal type 2 (SRXX2). SRXX2 is a condition in which male gonads develop in a genetic female (female to male sex reversal). Note: This description may include information from UniProtKB.
Protein type: DNA-binding; Transcription factor
Chromosomal Location of Human Ortholog: 17q24.3
Cellular Component: nucleoplasm; nucleus; protein complex
Molecular Function: beta-catenin binding; bHLH transcription factor binding; chromatin binding; DNA binding transcription factor activity; protein binding; protein heterodimerization activity; protein kinase activity; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding
Biological Process: astrocyte fate commitment; branching involved in ureteric bud morphogenesis; cAMP-mediated signaling; cartilage condensation; cartilage development; cell fate specification; chondrocyte differentiation; chromatin remodeling; cytoskeleton organization; endocrine pancreas development; epidermal growth factor receptor signaling pathway; epithelial to mesenchymal transition; extracellular matrix organization; hair follicle development; lacrimal gland development; limb bud formation; male germ-line sex determination; male gonad development; mammary gland development; negative regulation of apoptosis; negative regulation of bone mineralization; negative regulation of chondrocyte differentiation; negative regulation of epithelial cell differentiation; negative regulation of epithelial cell proliferation; negative regulation of immune system process; negative regulation of myoblast differentiation; negative regulation of ossification; negative regulation of photoreceptor cell differentiation; negative regulation of transcription, DNA-dependent; neural crest cell development; neural crest cell fate specification; Notch signaling pathway; notochord development; nucleosome assembly; oligodendrocyte differentiation; ossification; otic vesicle formation; positive regulation of cell proliferation; positive regulation of chondrocyte differentiation; positive regulation of epithelial cell differentiation; positive regulation of epithelial cell proliferation; positive regulation of mesenchymal cell proliferation; positive regulation of phosphoinositide 3-kinase cascade; positive regulation of protein catabolic process; positive regulation of protein phosphorylation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-templated; prostate gland development; protein complex assembly; protein kinase B signaling; regulation of apoptosis; regulation of cell adhesion; regulation of cell proliferation; retina development in camera-type eye; Sertoli cell development; Sertoli cell differentiation; signal transduction; skeletal system development; somatic stem cell maintenance; spermatogenesis; tissue homeostasis; transcription initiation from RNA polymerase II promoter
Disease: 46,xy Sex Reversal 10; Campomelic Dysplasia
Reference #:  P48436 (UniProtKB)
Alt. Names/Synonyms: CMD1; CMPD1; SOX9; SRA1; SRY (sex determining region Y)-box 9; SRY (sex-determining region Y)-box 9 protein; SRY-related HMG-box, gene 9; Transcription factor SOX-9; transcription factor SOX9
Gene Symbols: SOX9
Molecular weight: 56,137 Da
Basal Isoelectric point: 6.31  Predict pI for various phosphorylation states
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
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