SOX9

Description		SRY-box transcription factor 9
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GO Annotations	Cellular Component	Chromatin Nucleus Nucleoplasm Transcription Regulator Complex Protein-containing Complex
	Molecular Function	Transcription Cis-regulatory Region Binding RNA Polymerase II Cis-regulatory Region Sequence-specific DNA Binding DNA-binding Transcription Factor Activity, RNA Polymerase II-specific Cis-regulatory Region Sequence-specific DNA Binding DNA-binding Transcription Activator Activity, RNA Polymerase II-specific DNA Binding Chromatin Binding DNA-binding Transcription Factor Activity Protein Binding Beta-catenin Binding Protein Kinase A Catalytic Subunit Binding BHLH Transcription Factor Binding Sequence-specific DNA Binding Pre-mRNA Intronic Binding Sequence-specific Double-stranded DNA 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 Hair Follicle Development Morphogenesis Of An Epithelium Positive Regulation Of Mesenchymal Cell Proliferation Chondrocyte Differentiation Chondrocyte Development Glandular Epithelial Cell 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 Growth Plate Cartilage Chondrocyte Growth Nucleosome Assembly Chromatin Remodeling Regulation Of Transcription By RNA Polymerase II Transcription By RNA Polymerase II Apoptotic Process Cytoskeleton Organization Signal Transduction Epidermal Growth Factor Receptor Signaling Pathway Notch Signaling Pathway Spermatogenesis Central Nervous System Development Heart Development Cell Population Proliferation Positive Regulation Of Cell Population Proliferation Male Gonad Development Mesenchymal Cell Proliferation Gene Expression Regulation Of Gene Expression Regulation Of Cell Cycle Process Positive Regulation Of Gene Expression Negative Regulation Of Gene Expression Positive Regulation Of Epithelial Cell Migration Neural Crest Cell Development Neural Crest Cell Fate Specification Male Germ-line Sex Determination Glial Cell Fate Specification Cell Differentiation Regulation Of Cell Adhesion Extracellular Matrix Organization Male Sex Determination Negative Regulation Of Ossification Bone Mineralization 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 Population Proliferation Regulation Of Apoptotic Process Negative Regulation Of Apoptotic Process Cell Fate Commitment Regulation Of Cell Differentiation Negative Regulation Of Myoblast Differentiation Negative Regulation Of Osteoblast Differentiation Positive Regulation Of Protein Catabolic Process Negative Regulation Of DNA-templated Transcription Positive Regulation Of DNA-templated Transcription Positive Regulation Of Transcription By RNA Polymerase II Negative Regulation Of Fatty Acid Oxidation Negative Regulation Of Photoreceptor Cell Differentiation Neuron Fate Specification Oligodendrocyte Differentiation Homeostasis Of Number Of Cells Within A Tissue Epithelial Cell Proliferation 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 Canonical Wnt Signaling Pathway Limb Bud Formation Retinal Rod Cell Differentiation Endochondral Bone Morphogenesis Epithelial Tube Branching Involved In Lung Morphogenesis Lung Epithelial Cell Differentiation Type I Pneumocyte Differentiation Prostate Gland Morphogenesis Epithelial Cell Proliferation Involved In Prostatic Bud Elongation Bronchus Cartilage Development Trachea Cartilage Development Intestinal Epithelial Cell Differentiation 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 Cell Proliferation Involved In Heart Morphogenesis Protein-containing Complex Assembly Negative Regulation Of Biomineral Tissue Development ERK1 And ERK2 Cascade Harderian Gland Development Response To Fatty Acid 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 Otic Vesicle Development Cellular Response To BMP Stimulus Renal Vesicle Induction Stem Cell Proliferation Metanephric Tubule Development Ureter Development Ureter Urothelium Development Ureter Smooth Muscle Cell Differentiation Ureter Morphogenesis Metanephric Nephron Tubule Formation Extracellular Matrix Assembly 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 Mesenchymal Cell Apoptotic Process Cell-cell Adhesion Positive Regulation Of Extracellular Matrix Assembly Positive Regulation Of Chondrocyte Proliferation Negative Regulation Of MiRNA Transcription Negative Regulation Of Beta-catenin-TCF Complex Assembly Positive Regulation Of Male Gonad Development Positive Regulation Of Cell Proliferation Involved In Heart Morphogenesis Positive Regulation Of Stem Cell Proliferation 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 Transcriptional regulation of testis differentiation Transcriptional and post-translational regulation of MITF-M expression and activity Developmental Lineage of Pancreatic Acinar Cells Developmental Lineage of Pancreatic Ductal Cells Developmental Lineage of Multipotent Pancreatic Progenitor Cells
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) Alanine aminotransferase levels ( 33547301) Aspartate aminotransferase levels ( 33547301) Cervical cancer ( 31488892) Cervical cancer (MTAG) ( 31488892) Chin dimples ( 27182965) Chronic obstructive pulmonary disease ( 30804561) Coronary artery calcification ( 23870195) Facial morphology ( 31763980) Femoral neck bone mineral density ( 22504420) Fractures (paediatric) ( 32742401) Gynecologic disease (multivariate analysis) ( 31488892) 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) Thyroid stimulating hormone levels ( 32769997) Thyrotoxic hypokalemic periodic paralysis and Graves disease ( 31050781)
Novel Interacting Genes		22 novel interacting genes: ATP6V1H CREB1 CREB3L4 CREBBP ELF3 EP300 HERC1 HNF1B HSPA1A KPNB1 MAF MED12 NFIC NFIX NR5A1 PRKACA RCAN1 RUNX2 SPEN TRAF2 UBE2I USP7
Interacting Genes		22 interacting genes: ATP6V1H CREB1 CREB3L4 CREBBP ELF3 EP300 HERC1 HNF1B HSPA1A KPNB1 MAF MED12 NFIC NFIX NR5A1 PRKACA RCAN1 RUNX2 SPEN TRAF2 UBE2I USP7
Entrez ID		6662
HPRD ID		06427
Ensembl ID		ENSG00000125398
Uniprot IDs		P48436
PDB IDs		4EUW
Enriched GO Terms of Interacting Partners?		Regulation Of Nucleobase-containing Compound Metabolic Process Regulation Of DNA-templated Transcription Regulation Of RNA Biosynthetic Process Negative Regulation Of Nucleobase-containing Compound Metabolic Process Regulation Of RNA Metabolic Process Negative Regulation Of RNA Metabolic Process Positive Regulation Of Biosynthetic Process Regulation Of Metabolic Process Negative Regulation Of Metabolic Process Positive Regulation Of Transcription By RNA Polymerase II Negative Regulation Of DNA-templated Transcription Negative Regulation Of RNA Biosynthetic Process Positive Regulation Of Metabolic Process Positive Regulation Of RNA Biosynthetic Process Positive Regulation Of DNA-templated Transcription Regulation Of Gene Expression Regulation Of Transcription By RNA Polymerase II Regulation Of Macromolecule Biosynthetic Process Chromatin Negative Regulation Of Macromolecule Metabolic Process Positive Regulation Of Macromolecule Biosynthetic Process Regulation Of Primary Metabolic Process Negative Regulation Of Macromolecule Biosynthetic Process Positive Regulation Of RNA Metabolic Process Negative Regulation Of Biosynthetic Process DNA-binding Transcription Factor Activity Nucleoplasm RNA Polymerase II Cis-regulatory Region Sequence-specific DNA Binding Positive Regulation Of Nucleobase-containing Compound Metabolic Process Regulation Of Macromolecule Metabolic Process Transcription Coregulator Binding Sequence-specific Double-stranded DNA Binding Positive Regulation Of Macromolecule Metabolic Process Intracellular Signaling Cassette TORC1 Signaling Transcription By RNA Polymerase II Negative Regulation Of Transcription By RNA Polymerase II Histone H3K27 Acetyltransferase Activity Tissue Development Nucleus Regulation Of Steroid Biosynthetic Process DNA-binding Transcription Factor Activity, RNA Polymerase II-specific Intracellular Signal Transduction TOR Signaling Histone H3K18 Acetyltransferase Activity N-terminal Peptidyl-lysine Acetylation Peptide Lactyltransferase (CoA-dependent) Activity Enzyme Binding Regulation Of Steroid Metabolic Process Protein Stabilization
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