======= SOX9 =======
== Gene Information ==
* **Official Symbol**: SOX9
* **Official Name**: SRY-box transcription factor 9
* **Aliases and Previous Symbols**: N/A
* **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=6662|6662]]
* **UniProt**: [[https://www.uniprot.org/uniprot/P48436|P48436]]
* **Interactions**: [[https://thebiogrid.org/search.php?search=SOX9&organism=9606|BioGRID]]
* **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20SOX9|Open PubMed]]
* **OMIM**: [[https://omim.org/entry/608160|Open OMIM]]
== Function Summary ==
* **Entrez Summary**: 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].
* **UniProt Summary**: Transcriptional regulator (PubMed:24038782). Binds to the COL2A1 promoter and activates COL2A1 expression, as part of a complex with ZNF219 (By similarity). Plays a role in chondrocyte differentiation (By similarity). Important for normal skeletal development (PubMed:24038782). {ECO:0000250|UniProtKB:Q04887, ECO:0000269|PubMed:24038782}.
|Sox N|
|HMG box|
|regulation of cell proliferation involved in tissue homeostasis|
|epithelial cell proliferation involved in prostatic bud elongation|
|epithelial cell proliferation involved in prostate gland development|
|intrahepatic bile duct development|
|germ-line sex determination|
|bronchus cartilage development|
|primary prostatic bud elongation|
|male germ-line sex determination|
|lung smooth muscle development|
|primary sex determination, germ-line|
|neural crest cell fate specification|
|renal vesicle induction|
|ureter smooth muscle development|
|retinal rod cell differentiation|
|primary sex determination|
|ureter urothelium development|
|ureter smooth muscle cell differentiation|
|prostate gland morphogenetic growth|
|positive regulation of mesenchymal stem cell differentiation|
|Harderian gland development|
|metanephric nephron tubule formation|
|astrocyte fate commitment|
|neural crest cell fate commitment|
|intestinal epithelial structure maintenance|
|common bile duct development|
|stem cell fate specification|
|chondrocyte hypertrophy|
|cellular response to heparin|
|anterior head development|
|positive regulation of extracellular matrix assembly|
|metanephric tubule formation|
|regulation of branching involved in lung morphogenesis|
|response to heparin|
|positive regulation of cell proliferation involved in heart morphogenesis|
|regulation of mesenchymal stem cell differentiation|
|regulation of epithelial cell proliferation involved in lung morphogenesis|
|ureter morphogenesis|
|lacrimal gland development|
|response to anticoagulant|
|otic vesicle formation|
|positive regulation of male gonad development|
|metanephric nephron tubule morphogenesis|
|negative regulation of photoreceptor cell differentiation|
|trachea cartilage development|
|pre-mRNA intronic binding|
|otic vesicle morphogenesis|
|regulation of male gonad development|
|regulation of extracellular matrix assembly|
|stem cell fate commitment|
|regulation of photoreceptor cell differentiation|
|bronchus development|
|negative regulation of mesenchymal cell apoptotic process|
|metanephric tubule morphogenesis|
|prostate gland growth|
|positive regulation of gonad development|
|limb bud formation|
|neural crest formation|
|regulation of mesenchymal cell apoptotic process|
|protein kinase A catalytic subunit binding|
|heart valve formation|
|negative regulation of pri-miRNA transcription by RNA polymerase II|
|Sertoli cell development|
|otic vesicle development|
|glial cell fate commitment|
|male sex determination|
|ureter development|
|metanephric nephron tubule development|
|enhancer binding|
|regulation of cell proliferation involved in heart morphogenesis|
|nephron tubule formation|
|metanephric nephron epithelium development|
|smooth muscle tissue development|
|branch elongation of an epithelium|
|positive regulation of branching involved in ureteric bud morphogenesis|
|metanephric tubule development|
|negative regulation of bone mineralization|
|regulation of gonad development|
|camera-type eye photoreceptor cell differentiation|
|maintenance of gastrointestinal epithelium|
|trachea development|
|metanephric nephron morphogenesis|
|Sertoli cell differentiation|
|cartilage condensation|
|notochord development|
|lung epithelial cell differentiation|
|cell aggregation|
|positive regulation of mesonephros development|
|lung cell differentiation|
|metanephric epithelium development|
|positive regulation of chondrocyte differentiation|
|positive regulation of extracellular matrix organization|
|positive regulation of stem cell differentiation|
|prostate gland epithelium morphogenesis|
|regulation of branching involved in ureteric bud morphogenesis|
|negative regulation of chondrocyte differentiation|
|sex determination|
|enhancer sequence-specific DNA binding|
|prostate gland morphogenesis|
|cochlea morphogenesis|
|nuclear transcription factor complex|
|regulation of mesonephros development|
|bHLH transcription factor binding|
|positive regulation of mesenchymal cell proliferation|
|negative regulation of myoblast differentiation|
|epithelial tube branching involved in lung morphogenesis|
|developmental induction|
|metanephros morphogenesis|
|axis elongation|
|epithelial structure maintenance|
|negative regulation of cartilage development|
|ERK1 and ERK2 cascade|
|aortic valve morphogenesis|
|negative regulation of biomineral tissue development|
|negative regulation of biomineralization|
|homeostasis of number of cells within a tissue|
|lung epithelium development|
|chondrocyte differentiation involved in endochondral bone morphogenesis|
|metanephric nephron development|
|aortic valve development|
|smooth muscle cell differentiation|
|positive regulation of cartilage development|
|regulation of mesenchymal cell proliferation|
|positive regulation of morphogenesis of an epithelium|
|endocardial cushion morphogenesis|
|semi-lunar valve development|
|endocrine pancreas development|
|protein kinase B signaling|
|regulation of extracellular matrix organization|
|positive regulation of kidney development|
|regulation of heart morphogenesis|
|prostate gland development|
|negative regulation of epithelial cell differentiation|
|regulation of pri-miRNA transcription by RNA polymerase II|
|exocrine system development|
|endocardial cushion development|
|chondrocyte development|
|lung morphogenesis|
|cellular response to epidermal growth factor stimulus|
|branching involved in ureteric bud morphogenesis|
|cartilage development involved in endochondral bone morphogenesis|
|eye photoreceptor cell differentiation|
|response to epidermal growth factor|
|retina morphogenesis in camera-type eye|
|mesenchyme morphogenesis|
|epidermal growth factor receptor signaling pathway|
|cochlea development|
|regulation of chondrocyte differentiation|
|heart valve morphogenesis|
|regulation of myoblast differentiation|
|ureteric bud morphogenesis|
|astrocyte differentiation|
|mesonephric tubule morphogenesis|
|regulation of kidney development|
|regulation of morphogenesis of a branching structure|
|neural retina development|
|photoreceptor cell differentiation|
|positive regulation of epithelial cell differentiation|
|heart valve development|
|nephron tubule morphogenesis|
|somatic stem cell population maintenance|
|nephron epithelium morphogenesis|
|nephron morphogenesis|
|renal tubule morphogenesis|
|oligodendrocyte differentiation|
|cellular response to retinoic acid|
|epithelial to mesenchymal transition|
|regulation of cartilage development|
|ERBB signaling pathway|
|hair follicle development|
|endochondral bone morphogenesis|
|pancreas development|
|digestive system process|
|skin epidermis development|
|negative regulation of ossification|
|hair cycle process|
|regulation of bone mineralization|
|molting cycle process|
|nephron tubule development|
|positive regulation of reproductive process|
|neural crest cell development|
|cellular response to mechanical stimulus|
|renal tubule development|
|positive regulation of animal organ morphogenesis|
|chondrocyte differentiation|
|beta-catenin binding|
|mesenchymal cell development|
|metanephros development|
|stem cell development|
|kidney morphogenesis|
|positive regulation of phosphatidylinositol 3-kinase signaling|
|ureteric bud development|
|epithelial cell proliferation|
|mesonephric tubule development|
|mesonephric epithelium development|
|developmental cell growth|
|cell fate specification|
|neural crest cell differentiation|
|cell growth|
|mesonephros development|
|hair cycle|
|molting cycle|
|regulation of biomineral tissue development|
|regulation of biomineralization|
|organ growth|
|nephron epithelium development|
|inner ear morphogenesis|
|gland morphogenesis|
|cellular response to BMP stimulus|
|response to BMP|
|response to retinoic acid|
|digestion|
|camera-type eye morphogenesis|
|bone morphogenesis|
|developmental growth involved in morphogenesis|
|nucleosome assembly|
|regulation of stem cell differentiation|
|ear morphogenesis|
|regulation of phosphatidylinositol 3-kinase signaling|
|endocrine system development|
|embryonic epithelial tube formation|
|negative regulation of epithelial cell proliferation|
|nephron development|
|liver development|
|Notch signaling pathway|
|mammary gland development|
|hepaticobiliary system development|
|kidney epithelium development|
|branching morphogenesis of an epithelial tube|
|epithelial tube formation|
|chromatin assembly|
|male gonad development|
|stem cell population maintenance|
|development of primary male sexual characteristics|
|maintenance of cell number|
|retina development in camera-type eye|
|positive regulation of epithelial cell migration|
|regulation of epithelial cell differentiation|
|morphogenesis of embryonic epithelium|
|tube formation|
|eye morphogenesis|
|cAMP-mediated signaling|
|limb morphogenesis|
|appendage morphogenesis|
|cellular response to transforming growth factor beta stimulus|
|chromatin assembly or disassembly|
|mesenchymal cell differentiation|
|nucleosome organization|
|male sex differentiation|
|stem cell differentiation|
|morphogenesis of a branching epithelium|
|regulation of reproductive process|
|chromatin remodeling|
|protein localization to nucleus|
|response to transforming growth factor beta|
|morphogenesis of a branching structure|
|lung development|
|glial cell differentiation|
|cartilage development|
|cyclic-nucleotide-mediated signaling|
|respiratory tube development|
|cellular response to interleukin-1|
|negative regulation of canonical Wnt signaling pathway|
|transcription initiation from RNA polymerase II promoter|
|DNA packaging|
|limb development|
|regulation of morphogenesis of an epithelium|
|appendage development|
|positive regulation of epithelial cell proliferation|
|tissue homeostasis|
|regulation of ossification|
|epithelial cell development|
|inner ear development|
|respiratory system development|
|response to interleukin-1|
|homeostasis of number of cells|
|bone development|
|protein-DNA complex assembly|
|cellular response to acid chemical|
|negative regulation of Wnt signaling pathway|
|gonad development|
|response to mechanical stimulus|
|gliogenesis|
|DNA-templated transcription, initiation|
|positive regulation of protein catabolic process|
|development of primary sexual characteristics|
|regulation of epithelial cell migration|
|ear development|
|mesenchyme development|
|connective tissue development|
|negative regulation of neuron differentiation|
|skeletal system morphogenesis|
|protein-DNA complex subunit organization|
|muscle cell differentiation|
|cell fate commitment|
|heart morphogenesis|
|sensory organ morphogenesis|
|regulation of animal organ morphogenesis|
|ossification|
|sex differentiation|
|kidney development|
|regulation of canonical Wnt signaling pathway|
|renal system development|
|embryonic organ morphogenesis|
|negative regulation of neurogenesis|
|muscle tissue development|
|DNA conformation change|
|epithelial tube morphogenesis|
|negative regulation of nervous system development|
|camera-type eye development|
|cellular response to environmental stimulus|
|cellular response to abiotic stimulus|
|urogenital system development|
|multicellular organismal homeostasis|
|regulation of epithelial cell proliferation|
|negative regulation of cell development|
|cellular response to external stimulus|
|second-messenger-mediated signaling|
|extracellular matrix organization|
|anatomical structure homeostasis|
|response to acid chemical|
|eye development|
|regulation of Wnt signaling pathway|
|visual system development|
|sensory system development|
|MAPK cascade|
|skin development|
|regulation of protein catabolic process|
|extracellular structure organization|
|developmental growth|
|growth|
|signal transduction by protein phosphorylation|
|chromatin binding|
|cellular response to drug|
|gland development|
|epidermis development|
|reproductive structure development|
|reproductive system development|
|positive regulation of catabolic process|
|morphogenesis of an epithelium|
|embryonic organ development|
|negative regulation of immune system process|
|DNA-binding transcription activator activity, RNA polymerase II-specific|
|muscle structure development|
|transcription by RNA polymerase II|
|protein heterodimerization activity|
|skeletal system development|
|positive regulation of cell migration|
|cellular response to growth factor stimulus|
|RNA polymerase II proximal promoter sequence-specific DNA binding|
|cell-cell adhesion|
|transmembrane receptor protein tyrosine kinase signaling pathway|
|cellular response to lipid|
|positive regulation of cellular component biogenesis|
|positive regulation of cell motility|
|heart development|
|response to growth factor|
|positive regulation of cellular component movement|
|spermatogenesis|
|sensory organ development|
|positive regulation of locomotion|
|cell population proliferation|
|male gamete generation|
|tissue morphogenesis|
|embryonic morphogenesis|
|protein-containing complex|
|cellular response to organonitrogen compound|
|chordate embryonic development|
|transcription, DNA-templated|
|nucleic acid-templated transcription|
|embryo development ending in birth or egg hatching|
|RNA biosynthetic process|
|tube morphogenesis|
|regulation of neuron differentiation|
|cellular response to nitrogen compound|
|developmental process involved in reproduction|
|negative regulation of cell population proliferation|
|DNA-binding transcription factor activity|
|epithelial cell differentiation|
|regulation of cell adhesion|
|gamete generation|
|chromatin organization|
|negative regulation of cell differentiation|
|enzyme linked receptor protein signaling pathway|
|protein localization to organelle|
|regulation of cell cycle process|
|head development|
|regulation of neurogenesis|
|multicellular organismal reproductive process|
|sexual reproduction|
|cellular protein-containing complex assembly|
|multicellular organism reproduction|
|tube development|
|regulation of cell migration|
|response to lipid|
|negative regulation of transcription by RNA polymerase II|
|circulatory system development|
|negative regulation of apoptotic process|
|anatomical structure formation involved in morphogenesis|
|negative regulation of programmed cell death|
|regulation of cell motility|
|positive regulation of cell population proliferation|
|regulation of nervous system development|
|cell adhesion|
|regulation of cell development|
|biological adhesion|
|negative regulation of developmental process|
|animal organ morphogenesis|
|regulation of cellular component biogenesis|
|positive regulation of cell differentiation|
|protein phosphorylation|
|embryo development|
|central nervous system development|
|regulation of locomotion|
|regulation of cellular component movement|
|multi-organism reproductive process|
|negative regulation of cell death|
|regulation of catabolic process|
|response to organonitrogen compound|
|cellular response to cytokine stimulus|
|neuron differentiation|
|positive regulation of protein phosphorylation|
|positive regulation of intracellular signal transduction|
|response to drug|
|cellular response to oxygen-containing compound|
|positive regulation of phosphorylation|
|regulation of anatomical structure morphogenesis|
|chromosome organization|
|response to nitrogen compound|
|nucleobase-containing compound biosynthetic process|
|response to cytokine|
|cytoskeleton organization|
|epithelium development|
|positive regulation of phosphate metabolic process|
|positive regulation of phosphorus metabolic process|
|response to abiotic stimulus|
|heterocycle biosynthetic process|
|aromatic compound biosynthetic process|
|regulation of cell cycle|
|negative regulation of transcription, DNA-templated|
|negative regulation of multicellular organismal process|
|positive regulation of cellular component organization|
|positive regulation of transcription by RNA polymerase II|
|cellular response to endogenous stimulus|
|positive regulation of protein modification process|
|negative regulation of nucleic acid-templated transcription|
|negative regulation of RNA biosynthetic process|
|negative regulation of signal transduction|
|phosphorylation|
|organic cyclic compound biosynthetic process|
|negative regulation of RNA metabolic process|
|negative regulation of cell communication|
|negative regulation of signaling|
|positive regulation of developmental process|
|negative regulation of cellular macromolecule biosynthetic process|
|reproductive process|
|reproduction|
|negative regulation of nucleobase-containing compound metabolic process|
|regulation of protein phosphorylation|
|negative regulation of macromolecule biosynthetic process|
|response to endogenous stimulus|
|negative regulation of cellular biosynthetic process|
|generation of neurons|
|regulation of apoptotic process|
|positive regulation of transcription, DNA-templated|
|negative regulation of biosynthetic process|
|response to oxygen-containing compound|
|protein-containing complex assembly|
|DNA-binding transcription factor activity, RNA polymerase II-specific|
|regulation of programmed cell death|
|cellular protein localization|
|regulation of phosphorylation|
|cellular macromolecule localization|
|positive regulation of cellular protein metabolic process|
|regulation of cell population proliferation|
|negative regulation of response to stimulus|
|neurogenesis|
|cellular nitrogen compound biosynthetic process|
|positive regulation of nucleic acid-templated transcription|
|positive regulation of RNA biosynthetic process|
|homeostatic process|
|cell development|
|positive regulation of signal transduction|
|regulation of immune system process|
|RNA metabolic process|
|regulation of cell death|
|intracellular signal transduction|
|positive regulation of protein metabolic process|
|cellular macromolecule biosynthetic process|
|negative regulation of gene expression|
|positive regulation of RNA metabolic process|
|positive regulation of multicellular organismal process|
|tissue development|
|macromolecule biosynthetic process|
|regulation of phosphate metabolic process|
|regulation of phosphorus metabolic process|
|regulation of cell differentiation|
|positive regulation of cell communication|
|positive regulation of signaling|
|regulation of intracellular signal transduction|
|regulation of protein modification process|
|protein-containing complex subunit organization|
|positive regulation of nucleobase-containing compound metabolic process|
|positive regulation of macromolecule biosynthetic process|
|system process|
|positive regulation of cellular biosynthetic process|
|positive regulation of gene expression|
|gene expression|
|positive regulation of biosynthetic process|
\\
=== CRISPR Data ===
No hits were found.
No correlation found to any other genes in chemogenomics.
Global Fraction of Cell Lines Where Essential: 26/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|3/28|
|blood|0/28|
|bone|2/26|
|breast|1/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|3/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|3/16|
|kidney|0/21|
|liver|0/20|
|lung|1/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|2/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|2/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|2/29|
|uterus|0/5|
== Essentiality in NALM6 ==
* **Essentiality Rank**: 8049
* **Expression level (log2 read counts)**: 0.13
{{:chemogenomics:nalm6 dist.png?nolink |}}