SOX9 Gene Summary [Human]
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. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | SOX9 |
| Official Name | SRY-box transcription factor 9 [Source:HGNC Symbol;Acc:HGNC:11204] |
| Ensembl ID | ENSG00000125398 |
| Bio databases IDs | |
| Aliases | SRY-box transcription factor 9 |
| Synonyms | 2010306G03Rik, AV220920, CMD1, CMPD1, ENH13, LOC100361122, mKIAA4243, mSox9, SRA1, SRXX2, SRXY10, SRY, SRY-box transcription factor 9, SRY (sex determining region Y)-box 9, TES, TESCO |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SOX9 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- transcription activation domain
- transcription factor binding
- chromatin binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- proline/glutamine/serine-rich region
- HMG (high mobility group) box
- Pka phosphorylation site
- proline/glutamine rich region
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- protein kinase A binding
- protein kinase binding
- beta-catenin binding
- nucleic acid binding
- high mobility group (HMG)-box domain superfamily
- Sox developmental protein N terminal
- protein binding
- sequence-specific DNA binding
- DNA binding
- RNA binding
- double-stranded DNA binding
- HMG-box domain
- high mobility group
- transcription factor activity
- proline glutamine serine rich domain
Pathways
Biological processes and signaling networks where the SOX9 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- skin basal cell carcinoma
- breast cancer
- liver cancer
- neoplasia
- campomelic dysplasia
- colon adenocarcinoma
- colon epithelial cancer
- connective tissue disorder
- pancreatic ductal adenocarcinoma
role in cell
- differentiation
- expression in
- apoptosis
- proliferation
- binding in
- accumulation in
- activation in
- adhesion
- phosphorylation in
- quantity
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- Cytoplasm
- intracellular space
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SOX9 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of mesenchymal cell apoptotic process
- male gonad development
- cytoskeleton organization
- heart valve development
- ureter urothelium development
- Sertoli cell differentiation
- Sertoli cell development
- extracellular matrix assembly
- ureter smooth muscle cell differentiation
- heart valve morphogenesis
- endocardial cushion morphogenesis
- hair follicle development
- negative regulation of transcription, DNA-dependent
- cellular response to BMP stimulus
- positive regulation of transcription, DNA-dependent
- negative regulation of biomineral tissue development
- cell fate specification
- positive regulation of epithelial cell proliferation
- protein localization to nucleus
- regulation of branching involved in lung morphogenesis
- cell proliferation involved in heart morphogenesis
- macromolecular complex assembly
- aortic valve morphogenesis
- cochlea morphogenesis
- positive regulation of kidney development
- response to organic cyclic compound
- epithelial cell proliferation involved in prostatic bud elongation
- heart valve formation
- nucleosome assembly
- positive regulation of branching involved in ureteric bud morphogenesis
- morphogenesis of an epithelium
- negative regulation of myoblast differentiation
- positive regulation of stem cell proliferation
- cellular response to epidermal growth factor stimulus
- negative regulation of epithelial cell proliferation
- epithelial to mesenchymal transition
- positive regulation of protein kinase B signaling cascade
- regulation of cell proliferation involved in tissue homeostasis
- positive regulation of male gonad development
- positive regulation of cell proliferation
- chondrocyte differentiation
- positive regulation of transcription from RNA polymerase II promoter
- growth plate cartilage chondrocyte growth
- glandular epithelial cell differentiation
- negative regulation of osteoblast differentiation
- heart development
- protein kinase B signaling cascade
- glial cell fate specification
- neuron fate specification
- male germ-line sex determination
- stem cell proliferation
- somatic stem cell maintenance
- positive regulation of epithelial cell migration
- positive regulation of cell proliferation involved in heart morphogenesis
- oligodendrocyte differentiation
- bronchus cartilage development
- trachea cartilage development
- astrocyte fate commitment
- tissue homeostasis
- ureter morphogenesis
- mammary gland development
- cellular response to mechanical stimulus
- cellular response to retinoic acid
- branching involved in ureteric bud morphogenesis
- otic vesicle formation
- positive regulation of protein phosphorylation
- epithelial tube branching involved in lung morphogenesis
- retina development in camera-type eye
- epidermal growth factor receptor signaling pathway
- transcription from RNA polymerase II promoter
- negative regulation of photoreceptor cell differentiation
- morphogenesis of a branching epithelium
- negative regulation of immune system process
- negative regulation of bone mineralization
- skeletal system development
- notochord development
- cartilage condensation
- lacrimal gland development
- intestinal epithelial structure maintenance
- regulation of epithelial cell proliferation involved in lung morphogenesis
- neural crest cell fate specification
- neural crest cell development
- positive regulation of protein catabolic process
- positive regulation of mesenchymal cell proliferation
- regulation of apoptotic process
- anterior head development
- cellular response to transforming growth factor beta stimulus
- negative regulation of gene expression
- chondrocyte differentiation involved in endochondral bone morphogenesis
- negative regulation of epithelial cell differentiation
- Notch signaling pathway
- chondrocyte hypertrophy
- positive regulation of epithelial cell differentiation
- positive regulation of gene expression
- prostate gland development
- mesenchymal cell proliferation
- intrahepatic bile duct development
- cartilage development
- retinal rod cell differentiation
- positive regulation of cartilage development
- mesenchymal cell apoptotic process
- negative regulation of transcription from RNA polymerase II promoter
- chromatin remodeling
- metanephric nephron tubule formation
- negative regulation of fatty acid oxidation
- Harderian gland development
- Type I pneumocyte differentiation
- canonical Wnt receptor signaling pathway
- response to fatty acid
- endocrine pancreas development
- lung smooth muscle development
- intestinal epithelial cell differentiation
- bone mineralization
- signal transduction
- limb bud formation
- spermatogenesis
- regulation of cell proliferation
- ERK1 and ERK2 cascade
- negative regulation of canonical Wnt receptor signaling pathway
- negative regulation of apoptotic process
- renal vesicle induction
- cellular response to interleukin-1
- positive regulation of mesenchymal stem cell differentiation
- negative regulation of chondrocyte differentiation
- positive regulation of chondrocyte differentiation
- regulation of cell adhesion
- negative regulation of ossification
- cAMP-mediated signaling
- regulation of cell cycle process
- cellular response to heparin
Cellular Component
Where in the cell the gene product is active
- nucleus
- transcription factor complex
- macromolecular complex
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- core promoter proximal region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding
- chromatin binding
- beta-catenin binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity
- bHLH transcription factor binding
- sequence-specific DNA binding transcription factor activity
- pre-mRNA intronic binding
- protein binding
- protein kinase A catalytic subunit binding