SOX9 Transcriptional regulator that plays a role in chondrocytes differentiation and skeletal development. Binds to the COL2A1 promoter and activates COL2A1 expression, as part of a complex with ZNF219. Note: This description may include information from UniProtKB.
Protein type: DNA-binding; Transcription factor
Chromosomal Location of Human Ortholog: 17q24.3
Cellular Component:  nuclear transcription factor complex; nucleoplasm; nucleus; protein-containing complex
Molecular Function:  beta-catenin binding; bHLH transcription factor binding; chromatin binding; DNA-binding transcription activator activity, RNA polymerase II-specific; DNA-binding transcription factor activity; DNA-binding transcription factor activity, RNA polymerase II-specific; enhancer binding; enhancer sequence-specific DNA binding; pre-mRNA intronic binding; protein binding; protein heterodimerization activity; protein kinase A catalytic subunit binding; RNA polymerase II proximal promoter sequence-specific DNA binding
Biological Process:  anterior head development; aortic valve morphogenesis; astrocyte fate commitment; branching involved in ureteric bud morphogenesis; bronchus cartilage development; cAMP-mediated signaling; cartilage condensation; cartilage development; cell fate specification; cell-cell adhesion; cellular response to BMP stimulus; cellular response to epidermal growth factor stimulus; cellular response to heparin; cellular response to interleukin-1; cellular response to mechanical stimulus; cellular response to retinoic acid; cellular response to transforming growth factor beta stimulus; chondrocyte differentiation; chondrocyte differentiation involved in endochondral bone morphogenesis; chondrocyte hypertrophy; chromatin remodeling; cochlea morphogenesis; cytoskeleton organization; endocardial cushion morphogenesis; endocrine pancreas development; epidermal growth factor receptor signaling pathway; epithelial cell proliferation involved in prostatic bud elongation; epithelial to mesenchymal transition; epithelial tube branching involved in lung morphogenesis; ERK1 and ERK2 cascade; extracellular matrix organization; hair follicle development; Harderian gland development; heart valve development; heart valve formation; heart valve morphogenesis; intestinal epithelial structure maintenance; intrahepatic bile duct development; lacrimal gland development; limb bud formation; lung epithelial cell differentiation; lung smooth muscle development; male germ-line sex determination; male gonad development; mammary gland development; metanephric nephron tubule formation; morphogenesis of a branching epithelium; negative regulation of apoptotic process; negative regulation of biomineral tissue development; negative regulation of bone mineralization; negative regulation of canonical Wnt signaling pathway; 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 mesenchymal cell apoptotic process; negative regulation of myoblast differentiation; negative regulation of ossification; negative regulation of photoreceptor cell differentiation; negative regulation of pri-miRNA transcription by RNA polymerase II; negative regulation of transcription, DNA-templated; neural crest cell development; neural crest cell fate specification; Notch signaling pathway; notochord development; nucleosome assembly; ossification; otic vesicle formation; positive regulation of branching involved in ureteric bud morphogenesis; positive regulation of cartilage development; positive regulation of cell proliferation; positive regulation of cell proliferation involved in heart morphogenesis; positive regulation of chondrocyte differentiation; positive regulation of epithelial cell differentiation; positive regulation of epithelial cell migration; positive regulation of epithelial cell proliferation; positive regulation of extracellular matrix assembly; positive regulation of gene expression; positive regulation of kidney development; positive regulation of male gonad development; positive regulation of mesenchymal cell proliferation; positive regulation of mesenchymal stem cell differentiation; positive regulation of phosphatidylinositol 3-kinase signaling; positive regulation of protein catabolic process; positive regulation of protein phosphorylation; positive regulation of transcription by RNA polymerase II; positive regulation of transcription, DNA-templated; prostate gland development; protein kinase B signaling; protein localization to nucleus; protein-containing complex assembly; regulation of apoptotic process; regulation of branching involved in lung morphogenesis; regulation of cell adhesion; regulation of cell cycle process; regulation of cell proliferation; regulation of cell proliferation involved in tissue homeostasis; regulation of epithelial cell proliferation involved in lung morphogenesis; renal vesicle induction; retina development in camera-type eye; retinal rod cell differentiation; Sertoli cell development; Sertoli cell differentiation; signal transduction; skeletal system development; somatic stem cell population maintenance; spermatogenesis; tissue homeostasis; trachea cartilage development; transcription initiation from RNA polymerase II promoter; ureter morphogenesis; ureter smooth muscle cell differentiation; ureter urothelium development
Disease: 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
Select Structure to View Below

SOX9

Protein Structure Not Found.


Cross-references to other databases:  STRING  |  cBioPortal  |  Wikipedia  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Pfam  |  RCSB PDB  |  Phospho3D  |  Phospho.ELM  |  NetworKIN  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene