SOX9

Description		SRY-box transcription factor 9
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GO Annotations	Cellular Component	Nuclear Chromatin Nucleus Nucleoplasm Protein-containing Complex Nuclear Transcription Factor Complex
	Molecular Function	RNA Polymerase II Proximal Promoter Sequence-specific DNA Binding DNA-binding Transcription Factor Activity, RNA Polymerase II-specific Proximal Promoter Sequence-specific DNA Binding DNA-binding Transcription Activator Activity, RNA Polymerase II-specific Chromatin Binding DNA-binding Transcription Factor Activity Protein Binding Beta-catenin Binding Protein Kinase A Catalytic Subunit Binding Enhancer Binding BHLH Transcription Factor Binding Pre-mRNA Intronic Binding
	Biological Process	Negative Regulation Of Transcription By RNA Polymerase II Skeletal System Development Cartilage Condensation Ossification Branching Involved In Ureteric Bud Morphogenesis Cell Fate Specification Epithelial To Mesenchymal Transition Tissue Homeostasis Positive Regulation Of Protein Phosphorylation Hair Follicle Development Morphogenesis Of An Epithelium Positive Regulation Of Mesenchymal Cell Proliferation Chondrocyte Differentiation Negative Regulation Of Immune System Process Heart Valve Development Heart Valve Morphogenesis Aortic Valve Morphogenesis Heart Valve Formation Endocardial Cushion Morphogenesis Chondrocyte Differentiation Involved In Endochondral Bone Morphogenesis Chondrocyte Hypertrophy Nucleosome Assembly Chromatin Remodeling Transcription Initiation From RNA Polymerase II Promoter Cytoskeleton Organization Signal Transduction Epidermal Growth Factor Receptor Signaling Pathway Notch Signaling Pathway Spermatogenesis Central Nervous System Development Heart Development Positive Regulation Of Cell Proliferation Male Gonad Development Regulation Of Cell Cycle Process Positive Regulation Of Gene Expression Positive Regulation Of Epithelial Cell Migration Neural Crest Cell Development Neural Crest Cell Fate Specification Positive Regulation Of Phosphatidylinositol 3-kinase Signaling Male Germ-line Sex Determination CAMP-mediated Signaling Regulation Of Cell Adhesion Extracellular Matrix Organization Negative Regulation Of Ossification Negative Regulation Of Bone Mineralization Prostate Gland Development Negative Regulation Of Epithelial Cell Differentiation Positive Regulation Of Epithelial Cell Differentiation Mammary Gland Development Notochord Development Otic Vesicle Formation Endocrine Pancreas Development Negative Regulation Of Chondrocyte Differentiation Positive Regulation Of Chondrocyte Differentiation Lacrimal Gland Development Protein Localization To Nucleus Somatic Stem Cell Population Maintenance Intrahepatic Bile Duct Development Regulation Of Cell Proliferation Regulation Of Apoptotic Process Negative Regulation Of Apoptotic Process Protein Kinase B Signaling Negative Regulation Of Myoblast Differentiation Positive Regulation Of Protein Catabolic Process Negative Regulation Of Transcription, DNA-templated Positive Regulation Of Transcription, DNA-templated Positive Regulation Of Transcription By RNA Polymerase II Negative Regulation Of Photoreceptor Cell Differentiation Oligodendrocyte Differentiation Positive Regulation Of Epithelial Cell Proliferation Negative Regulation Of Epithelial Cell Proliferation Cartilage Development Sertoli Cell Differentiation Sertoli Cell Development Astrocyte Fate Commitment Retina Development In Camera-type Eye Limb Bud Formation Retinal Rod Cell Differentiation Epithelial Tube Branching Involved In Lung Morphogenesis Lung Epithelial Cell Differentiation Epithelial Cell Proliferation Involved In Prostatic Bud Elongation Bronchus Cartilage Development Trachea Cartilage Development Intestinal Epithelial Structure Maintenance Regulation Of Cell Proliferation Involved In Tissue Homeostasis Positive Regulation Of Cartilage Development Regulation Of Branching Involved In Lung Morphogenesis Morphogenesis Of A Branching Epithelium Lung Smooth Muscle Development Protein-containing Complex Assembly Negative Regulation Of Biomineral Tissue Development ERK1 And ERK2 Cascade Harderian Gland Development Cellular Response To Mechanical Stimulus Cellular Response To Retinoic Acid Cellular Response To Interleukin-1 Cellular Response To Epidermal Growth Factor Stimulus Cellular Response To Heparin Cellular Response To Transforming Growth Factor Beta Stimulus Cellular Response To BMP Stimulus Renal Vesicle Induction Ureter Urothelium Development Ureter Smooth Muscle Cell Differentiation Ureter Morphogenesis Metanephric Nephron Tubule Formation Negative Regulation Of Canonical Wnt Signaling Pathway Cochlea Morphogenesis Positive Regulation Of Kidney Development Positive Regulation Of Branching Involved In Ureteric Bud Morphogenesis Anterior Head Development Cell-cell Adhesion Positive Regulation Of Extracellular Matrix Assembly Positive Regulation Of Chondrocyte Proliferation Negative Regulation Of Pri-miRNA Transcription By RNA Polymerase II Positive Regulation Of Male Gonad Development Positive Regulation Of Cell Proliferation Involved In Heart Morphogenesis Positive Regulation Of Mesenchymal Stem Cell Differentiation Regulation Of Epithelial Cell Proliferation Involved In Lung Morphogenesis Negative Regulation Of Mesenchymal Cell Apoptotic Process
Pathways		Deactivation of the beta-catenin transactivating complex Transcriptional regulation by RUNX2
Drugs
Diseases		46,XX disorders of sex development (Disorders of gonadal development), including: Ovotesticular DSD; Testicular DSD; Ovarian dysgenesis Campomelic dysplasia (CD) 46,XY disorders of sex development (Disorders of gonadal development), including: Gonadal agenesis; Complete and partial gonadal dysgenesis; Testis regression; Ovotesticular DSD
GWAS		Adolescent idiopathic scoliosis (severe) ( 24023777) Chin dimples ( 27182965) Chronic obstructive pulmonary disease ( 30804561) Coronary artery calcification ( 23870195) Facial morphology ( 31763980) Femoral neck bone mineral density ( 22504420) Hip bone size ( 31053729) Hyperthyroidism ( 30367059) Intertrochanteric region size ( 31053729) Kidney stones ( 31729369) Liver enzyme levels (gamma-glutamyl transferase) ( 22001757) Lung adenocarcinoma ( 28604730) Lung cancer ( 28604730) Nose morphology ( 29921221) Nose size ( 27182965) Prostate cancer ( 24753544) Pulmonary function (smoking interaction) ( 23284291) Pulmonary function decline ( 22424883) Thyroid hormone levels ( 23408906) Thyrotoxic hypokalemic periodic paralysis and Graves disease ( 31050781)
Interacting Genes		18 interacting genes: ATP6V1H CREB1 CREB3L4 CREBBP ELF3 EP300 FBXW7 GSK3B HERC1 HSPA1A KPNB1 MAF MED12 NR5A1 RUNX2 SPEN TRAF2 UBE2I
Entrez ID		6662
HPRD ID		06427
Ensembl ID		ENSG00000125398
Uniprot IDs		P48436
PDB IDs		1S9M 1SX9 4EUW
Enriched GO Terms of Interacting Partners?
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