SOX9
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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| SRY-box 9 | MIM:608160 | Ensembl:ENSG00000125398 | HGNC:HGNC:11204 | PA36041 | 17q24.3 |
GO terms in SOX9
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IDA | GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | ISA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | ISM | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | NAS | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | IDA | GO:0001077 | transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | ISS | GO:0001158 | enhancer sequence-specific DNA binding |
| MF | IBA | GO:0001228 | transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding |
| MF | IDA | GO:0003682 | chromatin binding |
| MF | IDA | GO:0003700 | DNA-binding transcription factor activity |
| MF | IMP | GO:0003700 | DNA-binding transcription factor activity |
| MF | IDA | GO:0003705 | transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding |
| MF | ISS | GO:0004672 | protein kinase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0008013 | beta-catenin binding |
| MF | IPI | GO:0034236 | protein kinase A catalytic subunit binding |
| MF | IDA | GO:0035326 | enhancer binding |
| MF | IEA | GO:0043425 | bHLH transcription factor binding |
| MF | IEA | GO:0046982 | protein heterodimerization activity |
| MF | IEA | GO:0097157 | pre-mRNA intronic binding |
| CC | IDA | GO:0005634 | nucleus |
| CC | ISS | GO:0005634 | nucleus |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0032991 | protein-containing complex |
| CC | IEA | GO:0044798 | nuclear transcription factor complex |
| BP | IBA | GO:0000122 | negative regulation of transcription by RNA polymerase II |
| BP | IMP | GO:0001501 | skeletal system development |
| BP | ISS | GO:0001502 | cartilage condensation |
| BP | IEA | GO:0001503 | ossification |
| BP | IEA | GO:0001658 | branching involved in ureteric bud morphogenesis |
| BP | ISS | GO:0001708 | cell fate specification |
| BP | ISS | GO:0001837 | epithelial to mesenchymal transition |
| BP | ISS | GO:0001894 | tissue homeostasis |
| BP | ISS | GO:0001934 | positive regulation of protein phosphorylation |
| BP | ISS | GO:0001942 | hair follicle development |
| BP | IBA | GO:0002009 | morphogenesis of an epithelium |
| BP | ISS | GO:0002053 | positive regulation of mesenchymal cell proliferation |
| BP | IBA | GO:0002062 | chondrocyte differentiation |
| BP | ISS | GO:0002062 | chondrocyte differentiation |
| BP | ISS | GO:0002683 | negative regulation of immune system process |
| BP | ISS | GO:0003170 | heart valve development |
| BP | ISS | GO:0003179 | heart valve morphogenesis |
| BP | IEA | GO:0003188 | heart valve formation |
| BP | ISS | GO:0003203 | endocardial cushion morphogenesis |
| BP | IMP | GO:0003413 | chondrocyte differentiation involved in endochondral bone morphogenesis |
| BP | ISS | GO:0003415 | chondrocyte hypertrophy |
| BP | IDA | GO:0006334 | nucleosome assembly |
| BP | IDA | GO:0006338 | chromatin remodeling |
| BP | TAS | GO:0006367 | transcription initiation from RNA polymerase II promoter |
| BP | IEA | GO:0007010 | cytoskeleton organization |
| BP | ISS | GO:0007165 | signal transduction |
| BP | ISS | GO:0007173 | epidermal growth factor receptor signaling pathway |
| BP | IEA | GO:0007219 | Notch signaling pathway |
| BP | ISS | GO:0007283 | spermatogenesis |
| BP | IBA | GO:0007417 | central nervous system development |
| BP | IBA | GO:0007507 | heart development |
| BP | IMP | GO:0008284 | positive regulation of cell proliferation |
| BP | IEP | GO:0008584 | male gonad development |
| BP | IMP | GO:0008584 | male gonad development |
| BP | IMP | GO:0010564 | regulation of cell cycle process |
| BP | IMP | GO:0010634 | positive regulation of epithelial cell migration |
| BP | IEA | GO:0014032 | neural crest cell development |
| BP | ISS | GO:0014036 | neural crest cell fate specification |
| BP | ISS | GO:0014068 | positive regulation of phosphatidylinositol 3-kinase signaling |
| BP | ISS | GO:0019100 | male germ-line sex determination |
| BP | IDA | GO:0019933 | cAMP-mediated signaling |
| BP | IEA | GO:0030155 | regulation of cell adhesion |
| BP | IEA | GO:0030198 | extracellular matrix organization |
| BP | ISS | GO:0030279 | negative regulation of ossification |
| BP | IEA | GO:0030502 | negative regulation of bone mineralization |
| BP | IEP | GO:0030850 | prostate gland development |
| BP | IEA | GO:0030857 | negative regulation of epithelial cell differentiation |
| BP | ISS | GO:0030858 | positive regulation of epithelial cell differentiation |
| BP | IEA | GO:0030879 | mammary gland development |
| BP | IEA | GO:0030903 | notochord development |
| BP | ISS | GO:0030916 | otic vesicle formation |
| BP | IEA | GO:0031018 | endocrine pancreas development |
| BP | ISS | GO:0032331 | negative regulation of chondrocyte differentiation |
| BP | IBA | GO:0032332 | positive regulation of chondrocyte differentiation |
| BP | IDA | GO:0032332 | positive regulation of chondrocyte differentiation |
| BP | IMP | GO:0032332 | positive regulation of chondrocyte differentiation |
| BP | IEA | GO:0032808 | lacrimal gland development |
| BP | IEA | GO:0034504 | protein localization to nucleus |
| BP | ISS | GO:0035019 | somatic stem cell population maintenance |
| BP | IEA | GO:0035622 | intrahepatic bile duct development |
| BP | ISS | GO:0042127 | regulation of cell proliferation |
| BP | ISS | GO:0042981 | regulation of apoptotic process |
| BP | IMP | GO:0043066 | negative regulation of apoptotic process |
| BP | ISS | GO:0043066 | negative regulation of apoptotic process |
| BP | IEA | GO:0043491 | protein kinase B signaling |
| BP | ISS | GO:0045662 | negative regulation of myoblast differentiation |
| BP | IEA | GO:0045732 | positive regulation of protein catabolic process |
| BP | IMP | GO:0045892 | negative regulation of transcription, DNA-templated |
| BP | IDA | GO:0045893 | positive regulation of transcription, DNA-templated |
| BP | IMP | GO:0045893 | positive regulation of transcription, DNA-templated |
| BP | IBA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IDA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | ISS | GO:0046533 | negative regulation of photoreceptor cell differentiation |
| BP | IBA | GO:0048709 | oligodendrocyte differentiation |
| BP | IEA | GO:0048709 | oligodendrocyte differentiation |
| BP | IEP | GO:0050679 | positive regulation of epithelial cell proliferation |
| BP | ISS | GO:0050679 | positive regulation of epithelial cell proliferation |
| BP | ISS | GO:0050680 | negative regulation of epithelial cell proliferation |
| BP | ISS | GO:0051216 | cartilage development |
| BP | ISS | GO:0060008 | Sertoli cell differentiation |
| BP | IEA | GO:0060009 | Sertoli cell development |
| BP | IEA | GO:0060018 | astrocyte fate commitment |
| BP | ISS | GO:0060041 | retina development in camera-type eye |
| BP | IEA | GO:0060174 | limb bud formation |
| BP | ISS | GO:0060221 | retinal rod cell differentiation |
| BP | IEA | GO:0060441 | epithelial tube branching involved in lung morphogenesis |
| BP | IEA | GO:0060487 | lung epithelial cell differentiation |
| BP | ISS | GO:0060517 | epithelial cell proliferation involved in prostatic bud elongation |
| BP | IEA | GO:0060532 | bronchus cartilage development |
| BP | IEA | GO:0060534 | trachea cartilage development |
| BP | ISS | GO:0060729 | intestinal epithelial structure maintenance |
| BP | ISS | GO:0060784 | regulation of cell proliferation involved in tissue homeostasis |
| BP | IDA | GO:0061036 | positive regulation of cartilage development |
| BP | IEA | GO:0061046 | regulation of branching involved in lung morphogenesis |
| BP | ISS | GO:0061138 | morphogenesis of a branching epithelium |
| BP | IEA | GO:0061145 | lung smooth muscle development |
| BP | IDA | GO:0065003 | protein-containing complex assembly |
| BP | IDA | GO:0070168 | negative regulation of biomineral tissue development |
| BP | ISS | GO:0070168 | negative regulation of biomineral tissue development |
| BP | ISS | GO:0070371 | ERK1 and ERK2 cascade |
| BP | IEA | GO:0070384 | Harderian gland development |
| BP | ISS | GO:0071260 | cellular response to mechanical stimulus |
| BP | IEP | GO:0071300 | cellular response to retinoic acid |
| BP | IEP | GO:0071347 | cellular response to interleukin-1 |
| BP | ISS | GO:0071364 | cellular response to epidermal growth factor stimulus |
| BP | ISS | GO:0071504 | cellular response to heparin |
| BP | IDA | GO:0071560 | cellular response to transforming growth factor beta stimulus |
| BP | ISS | GO:0071773 | cellular response to BMP stimulus |
| BP | ISS | GO:0072034 | renal vesicle induction |
| BP | IEA | GO:0072190 | ureter urothelium development |
| BP | IEA | GO:0072193 | ureter smooth muscle cell differentiation |
| BP | IEA | GO:0072197 | ureter morphogenesis |
| BP | ISS | GO:0072289 | metanephric nephron tubule formation |
| BP | ISS | GO:0090090 | negative regulation of canonical Wnt signaling pathway |
| BP | ISS | GO:0090103 | cochlea morphogenesis |
| BP | ISS | GO:0090184 | positive regulation of kidney development |
| BP | ISS | GO:0090190 | positive regulation of branching involved in ureteric bud morphogenesis |
| BP | IEA | GO:0097065 | anterior head development |
| BP | IEA | GO:0098609 | cell-cell adhesion |
| BP | IEA | GO:1901203 | positive regulation of extracellular matrix assembly |
| BP | IDA | GO:1902894 | negative regulation of pri-miRNA transcription by RNA polymerase II |
| BP | IDA | GO:2000020 | positive regulation of male gonad development |
| BP | IEA | GO:2000138 | positive regulation of cell proliferation involved in heart morphogenesis |
| BP | IDA | GO:2000741 | positive regulation of mesenchymal stem cell differentiation |
| BP | IEA | GO:2000794 | regulation of epithelial cell proliferation involved in lung morphogenesis |
| BP | IEA | GO:2001054 | negative regulation of mesenchymal cell apoptotic process |
Gene expression in normal tissue: SOX9
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SOX9
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| netpath | Pathway_TGF_beta_Receptor | TGF_beta_Receptor |
| kegg | hsa04024 | cAMP signaling pathway - Homo sapiens (human) |
| wikipathways | WP2064 | Neural Crest Differentiation |
| wikipathways | WP2431 | Spinal Cord Injury |
| wikipathways | WP474 | Endochondral Ossification |
| wikipathways | WP98 | Prostaglandin Synthesis and Regulation |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-195721 | Signaling by WNT |
| reactome | R-HSA-201681 | TCF dependent signaling in response to WNT |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-3769402 | Deactivation of the beta-catenin transactivating complex |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-8878166 | Transcriptional regulation by RUNX2 |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD392 | Masitinib | 1 |
| iGMDRD1034 | WZ3105 | 1 |
| iGMDRD21 | Fluorouracil | 1 |
| iGMDRD568 | SCHEMBL15005512 | 1 |
| iGMDRD506 | Fedratinib | 1 |
| iGMDRD125 | BIRB-796 | 1 |
| iGMDRD388 | YM201636 | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SOX9
CLASSFICATION
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