SOX9
Gene Information
- Official Symbol: SOX9
- Official Name: SRY-box transcription factor 9
- Aliases and Previous Symbols: N/A
- Entrez ID: 6662
- UniProt: P48436
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: 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}.
Pfam Domains GO Terms
Pfam Domains
| Sox N |
| HMG box |
GO Terms
| 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
Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)
Compound Hit
No hits were found.
Most Correlated Genes in Chemogenomics
No correlation found to any other genes in chemogenomics.
Tissues where Essential in the Avana Dataset (DepMap 20Q1)
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
Expression Distribution
SOX9 Expression in NALM6 Cells: 0.13
