Transcription factor SOX-9

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functionⁱ

Regions

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functionⁱ

• beta-catenin binding Source: MGI <p>Inferred from Physical Interaction</p> <p>Covers physical interactions between the gene product of interest and another molecule (or ion, or complex).</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ipi">GO evidence code guide</a></p> Inferred from physical interactionⁱ
  • "Arginine methyltransferase CARM1/PRMT4 regulates endochondral ossification."
    Ito T., Yadav N., Lee J., Furumatsu T., Yamashita S., Yoshida K., Taniguchi N., Hashimoto M., Tsuchiya M., Ozaki T., Lotz M., Bedford M.T., Asahara H.
    BMC Dev. Biol. 9:47-47(2009) [PubMed] [Europe PMC] [Abstract]
• bHLH transcription factor binding Source: MGI
• chromatin binding Source: UniProtKB
• DNA-binding transcription activator activity, RNA polymerase II-specific Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ
  • "Sox9 sustains chondrocyte survival and hypertrophy in part through Pik3ca-Akt pathways."
    Ikegami D., Akiyama H., Suzuki A., Nakamura T., Nakano T., Yoshikawa H., Tsumaki N.
    Development 138:1507-1519(2011) [PubMed] [Europe PMC] [Abstract]
• DNA-binding transcription factor activity Source: MGIInferred from direct assayⁱ
  • "A new long form of Sox5 (L-Sox5), Sox6 and Sox9 are coexpressed in chondrogenesis and cooperatively activate the type II collagen gene."
    Lefebvre V., Li P., de Crombrugghe B.
    EMBO J. 17:5718-5733(1998) [PubMed] [Europe PMC] [Abstract]
• DNA-binding transcription factor activity, RNA polymerase II-specific Source: UniProtKBInferred from direct assayⁱ
  • "SRY-related HMG box 9 regulates the expression of Col4a2 through transactivating its enhancer element in mesangial cells."
    Sumi E., Iehara N., Akiyama H., Matsubara T., Mima A., Kanamori H., Fukatsu A., Salant D.J., Kita T., Arai H., Doi T.
    Am. J. Pathol. 170:1854-1864(2007) [PubMed] [Europe PMC] [Abstract]
• enhancer binding Source: UniProtKBInferred from direct assayⁱ
  • "Phosphorylation of SOX9 by cyclic AMP-dependent protein kinase A enhances SOX9's ability to transactivate a Col2a1 chondrocyte-specific enhancer."
    Huang W., Zhou X., Lefebvre V., de Crombrugghe B.
    Mol. Cell. Biol. 20:4149-4158(2000) [PubMed] [Europe PMC] [Abstract]
• enhancer sequence-specific DNA binding Source: UniProtKBInferred from direct assayⁱ
  • "SRY-related HMG box 9 regulates the expression of Col4a2 through transactivating its enhancer element in mesangial cells."
    Sumi E., Iehara N., Akiyama H., Matsubara T., Mima A., Kanamori H., Fukatsu A., Salant D.J., Kita T., Arai H., Doi T.
    Am. J. Pathol. 170:1854-1864(2007) [PubMed] [Europe PMC] [Abstract]
• pre-mRNA intronic binding Source: MGIInferred from direct assayⁱ
  • "Sox9 plays multiple roles in the lung epithelium during branching morphogenesis."
    Rockich B.E., Hrycaj S.M., Shih H.P., Nagy M.S., Ferguson M.A., Kopp J.L., Sander M., Wellik D.M., Spence J.R.
    Proc. Natl. Acad. Sci. U.S.A. 110:E4456-64(2013) [PubMed] [Europe PMC] [Abstract]
• protein kinase A catalytic subunit binding Source: MGI
• RNA polymerase II proximal promoter sequence-specific DNA binding Source: MGIInferred from direct assayⁱ
  • "The transcription factors steroidogenic factor-1 and SOX9 regulate expression of Vanin-1 during mouse testis development."
    Wilson M.J., Jeyasuria P., Parker K.L., Koopman P.
    J. Biol. Chem. 280:5917-5923(2005) [PubMed] [Europe PMC] [Abstract]
• sequence-specific DNA binding Source: MGIInferred from direct assayⁱ
  • "The homeobox transcription factor Barx2 regulates chondrogenesis during limb development."
    Meech R., Edelman D.B., Jones F.S., Makarenkova H.P.
    Development 132:2135-2146(2005) [PubMed] [Europe PMC] [Abstract]
• transcription regulatory region DNA binding Source: MGIInferred from direct assayⁱ
  • "SoxD proteins influence multiple stages of oligodendrocyte development and modulate SoxE protein function."
    Stolt C.C., Schlierf A., Lommes P., Hillgartner S., Werner T., Kosian T., Sock E., Kessaris N., Richardson W.D., Lefebvre V., Wegner M.
    Dev. Cell 11:697-709(2006) [PubMed] [Europe PMC] [Abstract]
• transcription regulatory region sequence-specific DNA binding Source: UniProtKBInferred from direct assayⁱ
  • "SOX9 binds DNA, activates transcription, and coexpresses with type II collagen during chondrogenesis in the mouse."
    Ng L.J., Wheatley S., Muscat G.E., Conway-Campbell J., Bowles J., Wright E., Bell D.M., Tam P.P., Cheah K.S., Koopman P.
    Dev. Biol. 183:108-121(1997) [PubMed] [Europe PMC] [Abstract]

GO - Biological processⁱ

• anterior head development Source: MGI <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ
  • "Discovery and characterization of spontaneous mouse models of craniofacial dysmorphology."
    Palmer K., Fairfield H., Borgeia S., Curtain M., Hassan M.G., Dionne L., Yong Karst S., Coombs H., Bronson R.T., Reinholdt L.G., Bergstrom D.E., Donahue L.R., Cox T.C., Murray S.A.
    Dev. Biol. 415:216-227(2016) [PubMed] [Europe PMC] [Abstract]
• aortic valve morphogenesis Source: MGI
• astrocyte fate commitment Source: MGI <p>Inferred from Genetic Interaction</p> <p>Used to describe “traditional” genetic interactions such as suppressors and synthetic lethals as well as other techniques such as functional complementation, rescue experiments, or inferences about a gene drawn from the phenotype of a mutation in a different gene.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#igi">GO evidence code guide</a></p> Inferred from genetic interactionⁱ
  • "The group E Sox genes Sox8 and Sox9 are regulated by Notch signaling and are required for Muller glial cell development in mouse retina."
    Muto A., Iida A., Satoh S., Watanabe S.
    Exp. Eye Res. 89:549-558(2009) [PubMed] [Europe PMC] [Abstract]
• branching involved in ureteric bud morphogenesis Source: UniProtKB <p>Inferred from Expression Pattern</p> <p>Covers cases where the annotation is inferred from the timing or location of expression of a gene.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#iep">GO evidence code guide</a></p> Inferred from expression patternⁱ
  • "A male-specific role for SOX9 in vertebrate sex determination."
    Kent J., Wheatley S.C., Andrews J.E., Sinclair A.H., Koopman P.
    Development 122:2813-2822(1996) [PubMed] [Europe PMC] [Abstract]
• bronchus cartilage development Source: MGIInferred from mutant phenotypeⁱ
  • "Establishment of smooth muscle and cartilage juxtaposition in the developing mouse upper airways."
    Hines E.A., Jones M.K., Verheyden J.M., Harvey J.F., Sun X.
    Proc. Natl. Acad. Sci. U.S.A. 110:19444-19449(2013) [PubMed] [Europe PMC] [Abstract]
• cAMP-mediated signaling Source: UniProtKB
• cartilage condensation Source: MGIInferred from mutant phenotypeⁱ
  • "Sox9 is required for cartilage formation."
    Bi W., Deng J.M., Zhang Z., Behringer R.R., de Crombrugghe B.
    Nat. Genet. 22:85-89(1999) [PubMed] [Europe PMC] [Abstract]
  • "The transcription factor Sox9 has essential roles in successive steps of the chondrocyte differentiation pathway and is required for expression of Sox5 and Sox6."
    Akiyama H., Chaboissier M.C., Martin J.F., Schedl A., de Crombrugghe B.
    Genes Dev. 16:2813-2828(2002) [PubMed] [Europe PMC] [Abstract]
• cartilage development Source: UniProtKBInferred from mutant phenotypeⁱ
  • Ref.6

    "Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia."
    Egunsola A.T., Bae Y., Jiang M.M., Liu D.S., Chen-Evenson Y., Bertin T., Chen S., Lu J.T., Nevarez L., Magal N., Raas-Rothschild A., Swindell E.C., Cohn D.H., Gibbs R.A., Campeau P.M., Shohat M., Lee B.H.
    J. Clin. Invest. 127:1475-1484(2017) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION.
• cell-cell adhesion Source: MGIInferred from mutant phenotypeⁱ
  • "Sox9 plays multiple roles in the lung epithelium during branching morphogenesis."
    Rockich B.E., Hrycaj S.M., Shih H.P., Nagy M.S., Ferguson M.A., Kopp J.L., Sander M., Wellik D.M., Spence J.R.
    Proc. Natl. Acad. Sci. U.S.A. 110:E4456-64(2013) [PubMed] [Europe PMC] [Abstract]
• cell differentiation Source: MGIInferred from mutant phenotypeⁱ
  • "The transcription factor Sox9 has essential roles in successive steps of the chondrocyte differentiation pathway and is required for expression of Sox5 and Sox6."
    Akiyama H., Chaboissier M.C., Martin J.F., Schedl A., de Crombrugghe B.
    Genes Dev. 16:2813-2828(2002) [PubMed] [Europe PMC] [Abstract]
• cell fate commitment Source: MGIInferred from genetic interactionⁱ
  • "Impact of transcription factor Sox8 on oligodendrocyte specification in the mouse embryonic spinal cord."
    Stolt C.C., Schmitt S., Lommes P., Sock E., Wegner M.
    Dev. Biol. 281:309-317(2005) [PubMed] [Europe PMC] [Abstract]
• cell fate specification Source: MGIInferred from mutant phenotypeⁱ
  • "The Sox9 transcription factor determines glial fate choice in the developing spinal cord."
    Stolt C.C., Lommes P., Sock E., Chaboissier M.C., Schedl A., Wegner M.
    Genes Dev. 17:1677-1689(2003) [PubMed] [Europe PMC] [Abstract]
• cellular response to BMP stimulus Source: UniProtKB
• cellular response to epidermal growth factor stimulus Source: UniProtKBInferred from direct assayⁱ
  • "An EGFR-ERK-SOX9 signaling cascade links urothelial development and regeneration to cancer."
    Ling S., Chang X., Schultz L., Lee T.K., Chaux A., Marchionni L., Netto G.J., Sidransky D., Berman D.M.
    Cancer Res. 71:3812-3821(2011) [PubMed] [Europe PMC] [Abstract]
• cellular response to heparin Source: UniProtKBInferred from direct assayⁱ
  • "An EGFR-ERK-SOX9 signaling cascade links urothelial development and regeneration to cancer."
    Ling S., Chang X., Schultz L., Lee T.K., Chaux A., Marchionni L., Netto G.J., Sidransky D., Berman D.M.
    Cancer Res. 71:3812-3821(2011) [PubMed] [Europe PMC] [Abstract]
• cellular response to interleukin-1 Source: Ensembl
• cellular response to mechanical stimulus Source: UniProtKBInferred from direct assayⁱ
  • "An EGFR-ERK-SOX9 signaling cascade links urothelial development and regeneration to cancer."
    Ling S., Chang X., Schultz L., Lee T.K., Chaux A., Marchionni L., Netto G.J., Sidransky D., Berman D.M.
    Cancer Res. 71:3812-3821(2011) [PubMed] [Europe PMC] [Abstract]
• cellular response to retinoic acid Source: MGIInferred from direct assayⁱ
  • "Retinoic acid receptors are required for skeletal growth, matrix homeostasis and growth plate function in postnatal mouse."
    Williams J.A., Kondo N., Okabe T., Takeshita N., Pilchak D.M., Koyama E., Ochiai T., Jensen D., Chu M.L., Kane M.A., Napoli J.L., Enomoto-Iwamoto M., Ghyselinck N., Chambon P., Pacifici M., Iwamoto M.
    Dev. Biol. 328:315-327(2009) [PubMed] [Europe PMC] [Abstract]
• cellular response to transforming growth factor beta stimulus Source: UniProtKBInferred from expression patternⁱ
  • "SRY-related HMG box 9 regulates the expression of Col4a2 through transactivating its enhancer element in mesangial cells."
    Sumi E., Iehara N., Akiyama H., Matsubara T., Mima A., Kanamori H., Fukatsu A., Salant D.J., Kita T., Arai H., Doi T.
    Am. J. Pathol. 170:1854-1864(2007) [PubMed] [Europe PMC] [Abstract]
• central nervous system development Source: UniProtKBInferred from expression patternⁱ
  • "SOX9 binds DNA, activates transcription, and coexpresses with type II collagen during chondrogenesis in the mouse."
    Ng L.J., Wheatley S., Muscat G.E., Conway-Campbell J., Bowles J., Wright E., Bell D.M., Tam P.P., Cheah K.S., Koopman P.
    Dev. Biol. 183:108-121(1997) [PubMed] [Europe PMC] [Abstract]
• chondrocyte development Source: MGIInferred from mutant phenotypeⁱ
  • "Loss of Sox9 function results in defective chondrocyte differentiation of mouse embryonic stem cells in vitro."
    Hargus G., Kist R., Kramer J., Gerstel D., Neitz A., Scherer G., Rohwedel J.
    Int. J. Dev. Biol. 52:323-332(2008) [PubMed] [Europe PMC] [Abstract]
• chondrocyte differentiation Source: UniProtKBInferred from expression patternⁱ
  • "SOX9 binds DNA, activates transcription, and coexpresses with type II collagen during chondrogenesis in the mouse."
    Ng L.J., Wheatley S., Muscat G.E., Conway-Campbell J., Bowles J., Wright E., Bell D.M., Tam P.P., Cheah K.S., Koopman P.
    Dev. Biol. 183:108-121(1997) [PubMed] [Europe PMC] [Abstract]
• chondrocyte differentiation involved in endochondral bone morphogenesis Source: UniProtKB
• chondrocyte hypertrophy Source: UniProtKBInferred from mutant phenotypeⁱ
  • "Sox9 sustains chondrocyte survival and hypertrophy in part through Pik3ca-Akt pathways."
    Ikegami D., Akiyama H., Suzuki A., Nakamura T., Nakano T., Yoshikawa H., Tsumaki N.
    Development 138:1507-1519(2011) [PubMed] [Europe PMC] [Abstract]
• chromatin remodeling Source: UniProtKB
• cochlea morphogenesis Source: MGIInferred from mutant phenotypeⁱ
  • "Loss of Sox9 in the periotic mesenchyme affects mesenchymal expansion and differentiation, and epithelial morphogenesis during cochlea development in the mouse."
    Trowe M.O., Shah S., Petry M., Airik R., Schuster-Gossler K., Kist R., Kispert A.
    Dev. Biol. 342:51-62(2010) [PubMed] [Europe PMC] [Abstract]
• cytoskeleton organization Source: MGIInferred from mutant phenotypeⁱ
  • "Sox9 plays multiple roles in the lung epithelium during branching morphogenesis."
    Rockich B.E., Hrycaj S.M., Shih H.P., Nagy M.S., Ferguson M.A., Kopp J.L., Sander M., Wellik D.M., Spence J.R.
    Proc. Natl. Acad. Sci. U.S.A. 110:E4456-64(2013) [PubMed] [Europe PMC] [Abstract]
• endocardial cushion morphogenesis Source: MGIInferred from mutant phenotypeⁱ
  • "Reelin in the extracellular matrix and dendritic spines of the cortex and hippocampus: a comparison between wild type and heterozygous reeler mice by immunoelectron microscopy."
    Pappas G.D., Kriho V., Pesold C.
    J. Neurocytol. 30:413-425(2001) [PubMed] [Europe PMC] [Abstract]
• endochondral bone morphogenesis Source: MGIInferred from mutant phenotypeⁱ
  • "Haploinsufficiency of Sox9 results in defective cartilage primordia and premature skeletal mineralization."
    Bi W., Huang W., Whitworth D.J., Deng J.M., Zhang Z., Behringer R.R., de Crombrugghe B.
    Proc. Natl. Acad. Sci. U.S.A. 98:6698-6703(2001) [PubMed] [Europe PMC] [Abstract]
• endocrine pancreas development Source: MGIInferred from mutant phenotypeⁱ
  • "A dosage-dependent requirement for Sox9 in pancreatic endocrine cell formation."
    Seymour P.A., Freude K.K., Dubois C.L., Shih H.P., Patel N.A., Sander M.
    Dev. Biol. 323:19-30(2008) [PubMed] [Europe PMC] [Abstract]
• epidermal growth factor receptor signaling pathway Source: UniProtKBInferred from direct assayⁱ
  • "An EGFR-ERK-SOX9 signaling cascade links urothelial development and regeneration to cancer."
    Ling S., Chang X., Schultz L., Lee T.K., Chaux A., Marchionni L., Netto G.J., Sidransky D., Berman D.M.
    Cancer Res. 71:3812-3821(2011) [PubMed] [Europe PMC] [Abstract]
• epithelial cell proliferation involved in prostatic bud elongation Source: MGIInferred from mutant phenotypeⁱ
  • "Sox9 is required for prostate development."
    Thomsen M.K., Butler C.M., Shen M.M., Swain A.
    Dev. Biol. 316:302-311(2008) [PubMed] [Europe PMC] [Abstract]
• epithelial to mesenchymal transition Source: MGIInferred from mutant phenotypeⁱ
  • "Essential role of Sox9 in the pathway that controls formation of cardiac valves and septa."
    Akiyama H., Chaboissier M.C., Behringer R.R., Rowitch D.H., Schedl A., Epstein J.A., de Crombrugghe B.
    Proc. Natl. Acad. Sci. U.S.A. 101:6502-6507(2004) [PubMed] [Europe PMC] [Abstract]
• epithelial tube branching involved in lung morphogenesis Source: MGIInferred from mutant phenotypeⁱ
  • "Lung epithelial branching program antagonizes alveolar differentiation."
    Chang D.R., Martinez Alanis D., Miller R.K., Ji H., Akiyama H., McCrea P.D., Chen J.
    Proc. Natl. Acad. Sci. U.S.A. 110:18042-18051(2013) [PubMed] [Europe PMC] [Abstract]
• ERK1 and ERK2 cascade Source: UniProtKBInferred from direct assayⁱ
  • "An EGFR-ERK-SOX9 signaling cascade links urothelial development and regeneration to cancer."
    Ling S., Chang X., Schultz L., Lee T.K., Chaux A., Marchionni L., Netto G.J., Sidransky D., Berman D.M.
    Cancer Res. 71:3812-3821(2011) [PubMed] [Europe PMC] [Abstract]
• extracellular matrix organization Source: MGIInferred from mutant phenotypeⁱ
  • "Sox9 is required for precursor cell expansion and extracellular matrix organization during mouse heart valve development."
    Lincoln J., Kist R., Scherer G., Yutzey K.E.
    Dev. Biol. 305:120-132(2007) [PubMed] [Europe PMC] [Abstract]
  • "Sox9 plays multiple roles in the lung epithelium during branching morphogenesis."
    Rockich B.E., Hrycaj S.M., Shih H.P., Nagy M.S., Ferguson M.A., Kopp J.L., Sander M., Wellik D.M., Spence J.R.
    Proc. Natl. Acad. Sci. U.S.A. 110:E4456-64(2013) [PubMed] [Europe PMC] [Abstract]
• hair follicle development Source: MGIInferred from mutant phenotypeⁱ
  • "Sox9 is essential for outer root sheath differentiation and the formation of the hair stem cell compartment."
    Vidal V.P., Chaboissier M.C., Lutzkendorf S., Cotsarelis G., Mill P., Hui C.C., Ortonne N., Ortonne J.P., Schedl A.
    Curr. Biol. 15:1340-1351(2005) [PubMed] [Europe PMC] [Abstract]
• Harderian gland development Source: MGIInferred from mutant phenotypeⁱ
  • "FGF signaling activates a Sox9-Sox10 pathway for the formation and branching morphogenesis of mouse ocular glands."
    Chen Z., Huang J., Liu Y., Dattilo L.K., Huh S.H., Ornitz D., Beebe D.C.
    Development 141:2691-2701(2014) [PubMed] [Europe PMC] [Abstract]
• heart development Source: MGIInferred from mutant phenotypeⁱ
  • "Essential role of Sox9 in the pathway that controls formation of cardiac valves and septa."
    Akiyama H., Chaboissier M.C., Behringer R.R., Rowitch D.H., Schedl A., Epstein J.A., de Crombrugghe B.
    Proc. Natl. Acad. Sci. U.S.A. 101:6502-6507(2004) [PubMed] [Europe PMC] [Abstract]
• heart valve development Source: UniProtKBInferred from mutant phenotypeⁱ
  • "Reduced sox9 function promotes heart valve calcification phenotypes in vivo."
    Peacock J.D., Levay A.K., Gillaspie D.B., Tao G., Lincoln J.
    Circ. Res. 106:712-719(2010) [PubMed] [Europe PMC] [Abstract]
• heart valve formation Source: MGIInferred from mutant phenotypeⁱ
  • "Sox9 is required for precursor cell expansion and extracellular matrix organization during mouse heart valve development."
    Lincoln J., Kist R., Scherer G., Yutzey K.E.
    Dev. Biol. 305:120-132(2007) [PubMed] [Europe PMC] [Abstract]
• heart valve morphogenesis Source: MGIInferred from mutant phenotypeⁱ
  • "Sox9 is required for precursor cell expansion and extracellular matrix organization during mouse heart valve development."
    Lincoln J., Kist R., Scherer G., Yutzey K.E.
    Dev. Biol. 305:120-132(2007) [PubMed] [Europe PMC] [Abstract]
• homeostasis of number of cells within a tissue Source: MGIInferred from mutant phenotypeⁱ
  • "Establishment of smooth muscle and cartilage juxtaposition in the developing mouse upper airways."
    Hines E.A., Jones M.K., Verheyden J.M., Harvey J.F., Sun X.
    Proc. Natl. Acad. Sci. U.S.A. 110:19444-19449(2013) [PubMed] [Europe PMC] [Abstract]
• intestinal epithelial structure maintenance Source: MGIInferred from mutant phenotypeⁱ
  • "SOX9 is required for the differentiation of paneth cells in the intestinal epithelium."
    Mori-Akiyama Y., van den Born M., van Es J.H., Hamilton S.R., Adams H.P., Zhang J., Clevers H., de Crombrugghe B.
    Gastroenterology 133:539-546(2007) [PubMed] [Europe PMC] [Abstract]
• intrahepatic bile duct development Source: MGIInferred from mutant phenotypeⁱ
  • "Intrahepatic bile ducts develop according to a new mode of tubulogenesis regulated by the transcription factor SOX9."
    Antoniou A., Raynaud P., Cordi S., Zong Y., Tronche F., Stanger B.Z., Jacquemin P., Pierreux C.E., Clotman F., Lemaigre F.P.
    Gastroenterology 136:2325-2333(2009) [PubMed] [Europe PMC] [Abstract]
• lacrimal gland development Source: MGIInferred from mutant phenotypeⁱ
  • "FGF signaling activates a Sox9-Sox10 pathway for the formation and branching morphogenesis of mouse ocular glands."
    Chen Z., Huang J., Liu Y., Dattilo L.K., Huh S.H., Ornitz D., Beebe D.C.
    Development 141:2691-2701(2014) [PubMed] [Europe PMC] [Abstract]
• limb bud formation Source: UniProtKBInferred from expression patternⁱ
  • Ref.5

    "The transcription factor Znf219 regulates chondrocyte differentiation by assembling a transcription factory with Sox9."
    Takigawa Y., Hata K., Muramatsu S., Amano K., Ono K., Wakabayashi M., Matsuda A., Takada K., Nishimura R., Yoneda T.
    J. Cell Sci. 123:3780-3788(2010) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, INTERACTION WITH ZNF219, SUBCELLULAR LOCATION.
• lung epithelial cell differentiation Source: MGIInferred from mutant phenotypeⁱ
  • "Sox9 plays multiple roles in the lung epithelium during branching morphogenesis."
    Rockich B.E., Hrycaj S.M., Shih H.P., Nagy M.S., Ferguson M.A., Kopp J.L., Sander M., Wellik D.M., Spence J.R.
    Proc. Natl. Acad. Sci. U.S.A. 110:E4456-64(2013) [PubMed] [Europe PMC] [Abstract]
• lung smooth muscle development Source: MGIInferred from mutant phenotypeⁱ
  • "Establishment of smooth muscle and cartilage juxtaposition in the developing mouse upper airways."
    Hines E.A., Jones M.K., Verheyden J.M., Harvey J.F., Sun X.
    Proc. Natl. Acad. Sci. U.S.A. 110:19444-19449(2013) [PubMed] [Europe PMC] [Abstract]
• male germ-line sex determination Source: MGIInferred from mutant phenotypeⁱ
  • "Sox9 induces testis development in XX transgenic mice."
    Vidal V.P., Chaboissier M.C., de Rooij D.G., Schedl A.
    Nat. Genet. 28:216-217(2001) [PubMed] [Europe PMC] [Abstract]
  • "Homozygous inactivation of Sox9 causes complete XY sex reversal in mice."
    Barrionuevo F., Bagheri-Fam S., Klattig J., Kist R., Taketo M.M., Englert C., Scherer G.
    Biol. Reprod. 74:195-201(2006) [PubMed] [Europe PMC] [Abstract]
• male gonad development Source: MGIInferred from mutant phenotypeⁱ
  • "Sox9 induces testis development in XX transgenic mice."
    Vidal V.P., Chaboissier M.C., de Rooij D.G., Schedl A.
    Nat. Genet. 28:216-217(2001) [PubMed] [Europe PMC] [Abstract]
  • "Functional analysis of Sox8 and Sox9 during sex determination in the mouse."
    Chaboissier M.C., Kobayashi A., Vidal V.I., Lutzkendorf S., van de Kant H.J., Wegner M., de Rooij D.G., Behringer R.R., Schedl A.
    Development 131:1891-1901(2004) [PubMed] [Europe PMC] [Abstract]
• male sex determination Source: MGIInferred from genetic interactionⁱ
  • "Fgf9 and Wnt4 act as antagonistic signals to regulate mammalian sex determination."
    Kim Y., Kobayashi A., Sekido R., DiNapoli L., Brennan J., Chaboissier M.C., Poulat F., Behringer R.R., Lovell-Badge R., Capel B.
    PLoS Biol. 4:e187-e187(2006) [PubMed] [Europe PMC] [Abstract]
• mammary gland development Source: UniProtKBInferred from expression patternⁱ
  • "RAR agonists stimulate SOX9 gene expression in breast cancer cell lines: evidence for a role in retinoid-mediated growth inhibition."
    Afonja O., Raaka B.M., Huang A., Das S., Zhao X., Helmer E., Juste D., Samuels H.H.
    Oncogene 21:7850-7860(2002) [PubMed] [Europe PMC] [Abstract]
• metanephric nephron tubule formation Source: MGIInferred from genetic interactionⁱ
  • "SOX9 controls epithelial branching by activating RET effector genes during kidney development."
    Reginensi A., Clarkson M., Neirijnck Y., Lu B., Ohyama T., Groves A.K., Sock E., Wegner M., Costantini F., Chaboissier M.C., Schedl A.
    Hum. Mol. Genet. 20:1143-1153(2011) [PubMed] [Europe PMC] [Abstract]
• metanephric tubule development Source: UniProtKBInferred from expression patternⁱ
  • "A male-specific role for SOX9 in vertebrate sex determination."
    Kent J., Wheatley S.C., Andrews J.E., Sinclair A.H., Koopman P.
    Development 122:2813-2822(1996) [PubMed] [Europe PMC] [Abstract]
• morphogenesis of a branching epithelium Source: MGIInferred from mutant phenotypeⁱ
  • "FGF signaling activates a Sox9-Sox10 pathway for the formation and branching morphogenesis of mouse ocular glands."
    Chen Z., Huang J., Liu Y., Dattilo L.K., Huh S.H., Ornitz D., Beebe D.C.
    Development 141:2691-2701(2014) [PubMed] [Europe PMC] [Abstract]
• morphogenesis of an epithelium Source: GO_Central <p>Inferred from Biological aspect of Ancestor</p> <p>A type of phylogenetic evidence whereby an aspect of a descendent is inferred through the characterization of an aspect of a ancestral gene.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#iba">GO evidence code guide</a></p> Inferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief. Bioinformatics 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• negative regulation of apoptotic process Source: UniProtKBInferred from mutant phenotypeⁱ
  • "Sox9 sustains chondrocyte survival and hypertrophy in part through Pik3ca-Akt pathways."
    Ikegami D., Akiyama H., Suzuki A., Nakamura T., Nakano T., Yoshikawa H., Tsumaki N.
    Development 138:1507-1519(2011) [PubMed] [Europe PMC] [Abstract]
• negative regulation of biomineral tissue development Source: UniProtKBInferred from mutant phenotypeⁱ
  • "Reduced sox9 function promotes heart valve calcification phenotypes in vivo."
    Peacock J.D., Levay A.K., Gillaspie D.B., Tao G., Lincoln J.
    Circ. Res. 106:712-719(2010) [PubMed] [Europe PMC] [Abstract]
• negative regulation of bone mineralization Source: MGIInferred from mutant phenotypeⁱ
  • "Haploinsufficiency of Sox9 results in defective cartilage primordia and premature skeletal mineralization."
    Bi W., Huang W., Whitworth D.J., Deng J.M., Zhang Z., Behringer R.R., de Crombrugghe B.
    Proc. Natl. Acad. Sci. U.S.A. 98:6698-6703(2001) [PubMed] [Europe PMC] [Abstract]
• negative regulation of canonical Wnt signaling pathway Source: UniProtKBInferred from direct assayⁱ
  • "Sox17 and Sox4 differentially regulate beta-catenin/T-cell factor activity and proliferation of colon carcinoma cells."
    Sinner D., Kordich J.J., Spence J.R., Opoka R., Rankin S., Lin S.C., Jonatan D., Zorn A.M., Wells J.M.
    Mol. Cell. Biol. 27:7802-7815(2007) [PubMed] [Europe PMC] [Abstract]
• negative regulation of cell population proliferation Source: MGIInferred from mutant phenotypeⁱ
  • "Sox9 regulates cell proliferation and is required for Paneth cell differentiation in the intestinal epithelium."
    Bastide P., Darido C., Pannequin J., Kist R., Robine S., Marty-Double C., Bibeau F., Scherer G., Joubert D., Hollande F., Blache P., Jay P.
    J. Cell Biol. 178:635-648(2007) [PubMed] [Europe PMC] [Abstract]
• negative regulation of chondrocyte differentiation Source: MGIInferred from mutant phenotypeⁱ
  • "Haploinsufficiency of Sox9 results in defective cartilage primordia and premature skeletal mineralization."
    Bi W., Huang W., Whitworth D.J., Deng J.M., Zhang Z., Behringer R.R., de Crombrugghe B.
    Proc. Natl. Acad. Sci. U.S.A. 98:6698-6703(2001) [PubMed] [Europe PMC] [Abstract]
• negative regulation of epithelial cell differentiation Source: MGIInferred from mutant phenotypeⁱ
  • "Lung epithelial branching program antagonizes alveolar differentiation."
    Chang D.R., Martinez Alanis D., Miller R.K., Ji H., Akiyama H., McCrea P.D., Chen J.
    Proc. Natl. Acad. Sci. U.S.A. 110:18042-18051(2013) [PubMed] [Europe PMC] [Abstract]
• negative regulation of epithelial cell proliferation Source: MGIInferred from mutant phenotypeⁱ
  • "SOX9 is required for the differentiation of paneth cells in the intestinal epithelium."
    Mori-Akiyama Y., van den Born M., van Es J.H., Hamilton S.R., Adams H.P., Zhang J., Clevers H., de Crombrugghe B.
    Gastroenterology 133:539-546(2007) [PubMed] [Europe PMC] [Abstract]
• negative regulation of gene expression Source: MGIInferred from mutant phenotypeⁱ
  • "Establishment of smooth muscle and cartilage juxtaposition in the developing mouse upper airways."
    Hines E.A., Jones M.K., Verheyden J.M., Harvey J.F., Sun X.
    Proc. Natl. Acad. Sci. U.S.A. 110:19444-19449(2013) [PubMed] [Europe PMC] [Abstract]
• negative regulation of immune system process Source: UniProtKBInferred from mutant phenotypeⁱ
  • "Reduced sox9 function promotes heart valve calcification phenotypes in vivo."
    Peacock J.D., Levay A.K., Gillaspie D.B., Tao G., Lincoln J.
    Circ. Res. 106:712-719(2010) [PubMed] [Europe PMC] [Abstract]
• negative regulation of mesenchymal cell apoptotic process Source: MGIInferred from mutant phenotypeⁱ
  • "Lung epithelial branching program antagonizes alveolar differentiation."
    Chang D.R., Martinez Alanis D., Miller R.K., Ji H., Akiyama H., McCrea P.D., Chen J.
    Proc. Natl. Acad. Sci. U.S.A. 110:18042-18051(2013) [PubMed] [Europe PMC] [Abstract]
• negative regulation of myoblast differentiation Source: MGIInferred from direct assayⁱ
  • "Sox8 is a specific marker for muscle satellite cells and inhibits myogenesis."
    Schmidt K., Glaser G., Wernig A., Wegner M., Rosorius O.
    J. Biol. Chem. 278:29769-29775(2003) [PubMed] [Europe PMC] [Abstract]
• negative regulation of ossification Source: UniProtKBInferred from mutant phenotypeⁱ
  • "Reduced sox9 function promotes heart valve calcification phenotypes in vivo."
    Peacock J.D., Levay A.K., Gillaspie D.B., Tao G., Lincoln J.
    Circ. Res. 106:712-719(2010) [PubMed] [Europe PMC] [Abstract]
• negative regulation of photoreceptor cell differentiation Source: MGIInferred from genetic interactionⁱ
  • "The group E Sox genes Sox8 and Sox9 are regulated by Notch signaling and are required for Muller glial cell development in mouse retina."
    Muto A., Iida A., Satoh S., Watanabe S.
    Exp. Eye Res. 89:549-558(2009) [PubMed] [Europe PMC] [Abstract]
• negative regulation of pri-miRNA transcription by RNA polymerase II Source: MGI
• negative regulation of transcription, DNA-templated Source: MGIInferred from direct assayⁱ
  • "Sox8 is a specific marker for muscle satellite cells and inhibits myogenesis."
    Schmidt K., Glaser G., Wernig A., Wegner M., Rosorius O.
    J. Biol. Chem. 278:29769-29775(2003) [PubMed] [Europe PMC] [Abstract]
  • "Mint represses transactivation of the type II collagen gene enhancer through interaction with alpha A-crystallin-binding protein 1."
    Yang X., Li J., Qin H., Yang H., Li J., Zhou P., Liang Y., Han H.
    J. Biol. Chem. 280:18710-18716(2005) [PubMed] [Europe PMC] [Abstract]
• negative regulation of transcription by RNA polymerase II Source: MGIInferred from mutant phenotypeⁱ
  • "miR-1247 functions by targeting cartilage transcription factor SOX9."
    Martinez-Sanchez A., Murphy C.L.
    J. Biol. Chem. 288:30802-30814(2013) [PubMed] [Europe PMC] [Abstract]
• neural crest cell development Source: MGIInferred from mutant phenotypeⁱ
  • "The transcriptional control of trunk neural crest induction, survival, and delamination."
    Cheung M., Chaboissier M.C., Mynett A., Hirst E., Schedl A., Briscoe J.
    Dev. Cell 8:179-192(2005) [PubMed] [Europe PMC] [Abstract]
• neural crest cell fate specification Source: UniProtKB
• Notch signaling pathway Source: MGIInferred from direct assayⁱ
  • "Hepatic Notch2 deficiency leads to bile duct agenesis perinatally and secondary bile duct formation after weaning."
    Falix F.A., Weeda V.B., Labruyere W.T., Poncy A., de Waart D.R., Hakvoort T.B., Lemaigre F., Gaemers I.C., Aronson D.C., Lamers W.H.
    Dev. Biol. 396:201-213(2014) [PubMed] [Europe PMC] [Abstract]
• notochord development Source: UniProtKBInferred from expression patternⁱ
  • "SOX9 binds DNA, activates transcription, and coexpresses with type II collagen during chondrogenesis in the mouse."
    Ng L.J., Wheatley S., Muscat G.E., Conway-Campbell J., Bowles J., Wright E., Bell D.M., Tam P.P., Cheah K.S., Koopman P.
    Dev. Biol. 183:108-121(1997) [PubMed] [Europe PMC] [Abstract]
• nucleosome assembly Source: UniProtKB
• oligodendrocyte differentiation Source: MGIInferred from mutant phenotypeⁱ
  • "SoxD proteins influence multiple stages of oligodendrocyte development and modulate SoxE protein function."
    Stolt C.C., Schlierf A., Lommes P., Hillgartner S., Werner T., Kosian T., Sock E., Kessaris N., Richardson W.D., Lefebvre V., Wegner M.
    Dev. Cell 11:697-709(2006) [PubMed] [Europe PMC] [Abstract]
• ossification Source: UniProtKBInferred from expression patternⁱ
  • "SOX9 binds DNA, activates transcription, and coexpresses with type II collagen during chondrogenesis in the mouse."
    Ng L.J., Wheatley S., Muscat G.E., Conway-Campbell J., Bowles J., Wright E., Bell D.M., Tam P.P., Cheah K.S., Koopman P.
    Dev. Biol. 183:108-121(1997) [PubMed] [Europe PMC] [Abstract]
• otic vesicle development Source: UniProtKBInferred from expression patternⁱ
  • "SOX9 binds DNA, activates transcription, and coexpresses with type II collagen during chondrogenesis in the mouse."
    Ng L.J., Wheatley S., Muscat G.E., Conway-Campbell J., Bowles J., Wright E., Bell D.M., Tam P.P., Cheah K.S., Koopman P.
    Dev. Biol. 183:108-121(1997) [PubMed] [Europe PMC] [Abstract]
• otic vesicle formation Source: MGIInferred from mutant phenotypeⁱ
  • "Sox9 is required for invagination of the otic placode in mice."
    Barrionuevo F., Naumann A., Bagheri-Fam S., Speth V., Taketo M.M., Scherer G., Neubuser A.
    Dev. Biol. 317:213-224(2008) [PubMed] [Europe PMC] [Abstract]
• positive regulation of branching involved in ureteric bud morphogenesis Source: UniProtKBInferred from mutant phenotypeⁱ
  • "SOX9 controls epithelial branching by activating RET effector genes during kidney development."
    Reginensi A., Clarkson M., Neirijnck Y., Lu B., Ohyama T., Groves A.K., Sock E., Wegner M., Costantini F., Chaboissier M.C., Schedl A.
    Hum. Mol. Genet. 20:1143-1153(2011) [PubMed] [Europe PMC] [Abstract]
• positive regulation of cartilage development Source: MGIInferred from direct assayⁱ
  • "Sox9 inhibits Wnt signaling by promoting beta-catenin phosphorylation in the nucleus."
    Topol L., Chen W., Song H., Day T.F., Yang Y.
    J. Biol. Chem. 284:3323-3333(2009) [PubMed] [Europe PMC] [Abstract]
• positive regulation of cell population proliferation Source: MGIInferred from mutant phenotypeⁱ
  • "SOX9 is required for maintenance of the pancreatic progenitor cell pool."
    Seymour P.A., Freude K.K., Tran M.N., Mayes E.E., Jensen J., Kist R., Scherer G., Sander M.
    Proc. Natl. Acad. Sci. U.S.A. 104:1865-1870(2007) [PubMed] [Europe PMC] [Abstract]
  • "A dosage-dependent requirement for Sox9 in pancreatic endocrine cell formation."
    Seymour P.A., Freude K.K., Dubois C.L., Shih H.P., Patel N.A., Sander M.
    Dev. Biol. 323:19-30(2008) [PubMed] [Europe PMC] [Abstract]
• positive regulation of cell proliferation involved in heart morphogenesis Source: MGIInferred from mutant phenotypeⁱ
  • "Sox9 is required for precursor cell expansion and extracellular matrix organization during mouse heart valve development."
    Lincoln J., Kist R., Scherer G., Yutzey K.E.
    Dev. Biol. 305:120-132(2007) [PubMed] [Europe PMC] [Abstract]
• positive regulation of chondrocyte differentiation Source: UniProtKBInferred from direct assayⁱ
  • Ref.5

    "The transcription factor Znf219 regulates chondrocyte differentiation by assembling a transcription factory with Sox9."
    Takigawa Y., Hata K., Muramatsu S., Amano K., Ono K., Wakabayashi M., Matsuda A., Takada K., Nishimura R., Yoneda T.
    J. Cell Sci. 123:3780-3788(2010) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, INTERACTION WITH ZNF219, SUBCELLULAR LOCATION.
• positive regulation of epithelial cell differentiation Source: MGIInferred from mutant phenotypeⁱ
  • "SOX9 is required for the differentiation of paneth cells in the intestinal epithelium."
    Mori-Akiyama Y., van den Born M., van Es J.H., Hamilton S.R., Adams H.P., Zhang J., Clevers H., de Crombrugghe B.
    Gastroenterology 133:539-546(2007) [PubMed] [Europe PMC] [Abstract]
• positive regulation of epithelial cell migration Source: MGIInferred from mutant phenotypeⁱ
  • "Sox9 plays multiple roles in the lung epithelium during branching morphogenesis."
    Rockich B.E., Hrycaj S.M., Shih H.P., Nagy M.S., Ferguson M.A., Kopp J.L., Sander M., Wellik D.M., Spence J.R.
    Proc. Natl. Acad. Sci. U.S.A. 110:E4456-64(2013) [PubMed] [Europe PMC] [Abstract]
• positive regulation of epithelial cell proliferation Source: UniProtKBInferred from mutant phenotypeⁱ
  • "SOX9 elevation in the prostate promotes proliferation and cooperates with PTEN loss to drive tumor formation."
    Thomsen M.K., Ambroisine L., Wynn S., Cheah K.S., Foster C.S., Fisher G., Berney D.M., Moller H., Reuter V.E., Scardino P., Cuzick J., Ragavan N., Singh P.B., Martin F.L., Butler C.M., Cooper C.S., Swain A.
    Cancer Res. 70:979-987(2010) [PubMed] [Europe PMC] [Abstract]
• positive regulation of extracellular matrix assembly Source: MGIInferred from mutant phenotypeⁱ
  • "Hydroureternephrosis due to loss of Sox9-regulated smooth muscle cell differentiation of the ureteric mesenchyme."
    Airik R., Trowe M.O., Foik A., Farin H.F., Petry M., Schuster-Gossler K., Schweizer M., Scherer G., Kist R., Kispert A.
    Hum. Mol. Genet. 19:4918-4929(2010) [PubMed] [Europe PMC] [Abstract]
• positive regulation of gene expression Source: MGIInferred from genetic interactionⁱ
  • "Testis cord differentiation after the sex determination stage is independent of Sox9 but fails in the combined absence of Sox9 and Sox8."
    Barrionuevo F., Georg I., Scherthan H., Lecureuil C., Guillou F., Wegner M., Scherer G.
    Dev. Biol. 327:301-312(2009) [PubMed] [Europe PMC] [Abstract]
• positive regulation of kidney development Source: UniProtKBInferred from genetic interactionⁱ
  • "SOX9 controls epithelial branching by activating RET effector genes during kidney development."
    Reginensi A., Clarkson M., Neirijnck Y., Lu B., Ohyama T., Groves A.K., Sock E., Wegner M., Costantini F., Chaboissier M.C., Schedl A.
    Hum. Mol. Genet. 20:1143-1153(2011) [PubMed] [Europe PMC] [Abstract]
• positive regulation of male gonad development Source: UniProtKB
• positive regulation of mesenchymal cell proliferation Source: MGIInferred from mutant phenotypeⁱ
  • "Sox9 is required for precursor cell expansion and extracellular matrix organization during mouse heart valve development."
    Lincoln J., Kist R., Scherer G., Yutzey K.E.
    Dev. Biol. 305:120-132(2007) [PubMed] [Europe PMC] [Abstract]
  • "Loss of Sox9 in the periotic mesenchyme affects mesenchymal expansion and differentiation, and epithelial morphogenesis during cochlea development in the mouse."
    Trowe M.O., Shah S., Petry M., Airik R., Schuster-Gossler K., Kist R., Kispert A.
    Dev. Biol. 342:51-62(2010) [PubMed] [Europe PMC] [Abstract]
• positive regulation of mesenchymal stem cell differentiation Source: UniProtKB
• positive regulation of phosphatidylinositol 3-kinase signaling Source: UniProtKBInferred from mutant phenotypeⁱ
  • "Sox9 sustains chondrocyte survival and hypertrophy in part through Pik3ca-Akt pathways."
    Ikegami D., Akiyama H., Suzuki A., Nakamura T., Nakano T., Yoshikawa H., Tsumaki N.
    Development 138:1507-1519(2011) [PubMed] [Europe PMC] [Abstract]
• positive regulation of protein catabolic process Source: MGIInferred from direct assayⁱ
  • "Sox9 inhibits Wnt signaling by promoting beta-catenin phosphorylation in the nucleus."
    Topol L., Chen W., Song H., Day T.F., Yang Y.
    J. Biol. Chem. 284:3323-3333(2009) [PubMed] [Europe PMC] [Abstract]
• positive regulation of protein phosphorylation Source: MGIInferred from direct assayⁱ
  • "Sox9 inhibits Wnt signaling by promoting beta-catenin phosphorylation in the nucleus."
    Topol L., Chen W., Song H., Day T.F., Yang Y.
    J. Biol. Chem. 284:3323-3333(2009) [PubMed] [Europe PMC] [Abstract]
• positive regulation of transcription, DNA-templated Source: UniProtKBInferred from direct assayⁱ
  • "SOX9 binds DNA, activates transcription, and coexpresses with type II collagen during chondrogenesis in the mouse."
    Ng L.J., Wheatley S., Muscat G.E., Conway-Campbell J., Bowles J., Wright E., Bell D.M., Tam P.P., Cheah K.S., Koopman P.
    Dev. Biol. 183:108-121(1997) [PubMed] [Europe PMC] [Abstract]
• positive regulation of transcription by RNA polymerase II Source: UniProtKBInferred from direct assayⁱ
  • "SRY-related HMG box 9 regulates the expression of Col4a2 through transactivating its enhancer element in mesangial cells."
    Sumi E., Iehara N., Akiyama H., Matsubara T., Mima A., Kanamori H., Fukatsu A., Salant D.J., Kita T., Arai H., Doi T.
    Am. J. Pathol. 170:1854-1864(2007) [PubMed] [Europe PMC] [Abstract]
• prostate gland development Source: UniProtKBInferred from expression patternⁱ
  • "SOX9 elevation in the prostate promotes proliferation and cooperates with PTEN loss to drive tumor formation."
    Thomsen M.K., Ambroisine L., Wynn S., Cheah K.S., Foster C.S., Fisher G., Berney D.M., Moller H., Reuter V.E., Scardino P., Cuzick J., Ragavan N., Singh P.B., Martin F.L., Butler C.M., Cooper C.S., Swain A.
    Cancer Res. 70:979-987(2010) [PubMed] [Europe PMC] [Abstract]
• prostate gland morphogenesis Source: MGIInferred from mutant phenotypeⁱ
  • "Sox9 is required for prostate development."
    Thomsen M.K., Butler C.M., Shen M.M., Swain A.
    Dev. Biol. 316:302-311(2008) [PubMed] [Europe PMC] [Abstract]
• protein-containing complex assembly Source: UniProtKB
• protein kinase B signaling Source: UniProtKBInferred from mutant phenotypeⁱ
  • "Sox9 sustains chondrocyte survival and hypertrophy in part through Pik3ca-Akt pathways."
    Ikegami D., Akiyama H., Suzuki A., Nakamura T., Nakano T., Yoshikawa H., Tsumaki N.
    Development 138:1507-1519(2011) [PubMed] [Europe PMC] [Abstract]
• protein localization to nucleus Source: MGIInferred from direct assayⁱ
  • "Wwp2 is essential for palatogenesis mediated by the interaction between Sox9 and mediator subunit 25."
    Nakamura Y., Yamamoto K., He X., Otsuki B., Kim Y., Murao H., Soeda T., Tsumaki N., Deng J.M., Zhang Z., Behringer R.R., Crombrugghe B.d., Postlethwait J.H., Warman M.L., Nakamura T., Akiyama H.
    Nat Commun 2:251-251(2011) [PubMed] [Europe PMC] [Abstract]
• regulation of branching involved in lung morphogenesis Source: MGIInferred from mutant phenotypeⁱ
  • "Sox9 plays multiple roles in the lung epithelium during branching morphogenesis."
    Rockich B.E., Hrycaj S.M., Shih H.P., Nagy M.S., Ferguson M.A., Kopp J.L., Sander M., Wellik D.M., Spence J.R.
    Proc. Natl. Acad. Sci. U.S.A. 110:E4456-64(2013) [PubMed] [Europe PMC] [Abstract]
• regulation of cell adhesion Source: MGIInferred from mutant phenotypeⁱ
  • "Sox9 is required for invagination of the otic placode in mice."
    Barrionuevo F., Naumann A., Bagheri-Fam S., Speth V., Taketo M.M., Scherer G., Neubuser A.
    Dev. Biol. 317:213-224(2008) [PubMed] [Europe PMC] [Abstract]
• regulation of cell cycle process Source: UniProtKB
• regulation of cell differentiation Source: MGIInferred from mutant phenotypeⁱ
  • "Sox9 regulates cell proliferation and is required for Paneth cell differentiation in the intestinal epithelium."
    Bastide P., Darido C., Pannequin J., Kist R., Robine S., Marty-Double C., Bibeau F., Scherer G., Joubert D., Hollande F., Blache P., Jay P.
    J. Cell Biol. 178:635-648(2007) [PubMed] [Europe PMC] [Abstract]
• regulation of cell population proliferation Source: MGIInferred from mutant phenotypeⁱ
  • "Sox9 is essential for outer root sheath differentiation and the formation of the hair stem cell compartment."
    Vidal V.P., Chaboissier M.C., Lutzkendorf S., Cotsarelis G., Mill P., Hui C.C., Ortonne N., Ortonne J.P., Schedl A.
    Curr. Biol. 15:1340-1351(2005) [PubMed] [Europe PMC] [Abstract]
• regulation of cell proliferation involved in tissue homeostasis Source: MGIInferred from mutant phenotypeⁱ
  • "Sox9 regulates cell proliferation and is required for Paneth cell differentiation in the intestinal epithelium."
    Bastide P., Darido C., Pannequin J., Kist R., Robine S., Marty-Double C., Bibeau F., Scherer G., Joubert D., Hollande F., Blache P., Jay P.
    J. Cell Biol. 178:635-648(2007) [PubMed] [Europe PMC] [Abstract]
• regulation of epithelial cell proliferation involved in lung morphogenesis Source: MGIInferred from mutant phenotypeⁱ
  • "Sox9 plays multiple roles in the lung epithelium during branching morphogenesis."
    Rockich B.E., Hrycaj S.M., Shih H.P., Nagy M.S., Ferguson M.A., Kopp J.L., Sander M., Wellik D.M., Spence J.R.
    Proc. Natl. Acad. Sci. U.S.A. 110:E4456-64(2013) [PubMed] [Europe PMC] [Abstract]
• regulation of gene expression Source: MGIInferred from direct assayⁱ
  • "Smpd3 Expression in both Chondrocytes and Osteoblasts Is Required for Normal Endochondral Bone Development."
    Li J., Manickam G., Ray S., Oh C.D., Yasuda H., Moffatt P., Murshed M.
    Mol. Cell. Biol. 36:2282-2299(2016) [PubMed] [Europe PMC] [Abstract]
• regulation of transcription, DNA-templated Source: MGI <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementⁱ
  • "Sox9 is required for cartilage formation."
    Bi W., Deng J.M., Zhang Z., Behringer R.R., de Crombrugghe B.
    Nat. Genet. 22:85-89(1999) [PubMed] [Europe PMC] [Abstract]
• regulation of transcription by RNA polymerase II Source: MGIInferred from direct assayⁱ
  • "Uncovering early response of gene regulatory networks in ESCs by systematic induction of transcription factors."
    Nishiyama A., Xin L., Sharov A.A., Thomas M., Mowrer G., Meyers E., Piao Y., Mehta S., Yee S., Nakatake Y., Stagg C., Sharova L., Correa-Cerro L.S., Bassey U., Hoang H., Kim E., Tapnio R., Qian Y.

    , Dudekula D., Zalzman M., Li M., Falco G., Yang H.T., Lee S.L., Monti M., Stanghellini I., Islam M.N., Nagaraja R., Goldberg I., Wang W., Longo D.L., Schlessinger D., Ko M.S.
    Cell Stem Cell 5:420-433(2009) [PubMed] [Europe PMC] [Abstract]
  • "Expression profiling of Aldh1l1-precursors in the developing spinal cord reveals glial lineage-specific genes and direct Sox9-Nfe2l1 interactions."
    Molofsky A.V., Glasgow S.M., Chaboub L.S., Tsai H.H., Murnen A.T., Kelley K.W., Fancy S.P., Yuen T.J., Madireddy L., Baranzini S., Deneen B., Rowitch D.H., Oldham M.C.
    Glia 61:1518-1532(2013) [PubMed] [Europe PMC] [Abstract]
• renal vesicle induction Source: UniProtKBInferred from mutant phenotypeⁱ
  • "SOX9 controls epithelial branching by activating RET effector genes during kidney development."
    Reginensi A., Clarkson M., Neirijnck Y., Lu B., Ohyama T., Groves A.K., Sock E., Wegner M., Costantini F., Chaboissier M.C., Schedl A.
    Hum. Mol. Genet. 20:1143-1153(2011) [PubMed] [Europe PMC] [Abstract]
• retina development in camera-type eye Source: MGIInferred from genetic interactionⁱ
  • "The group E Sox genes Sox8 and Sox9 are regulated by Notch signaling and are required for Muller glial cell development in mouse retina."
    Muto A., Iida A., Satoh S., Watanabe S.
    Exp. Eye Res. 89:549-558(2009) [PubMed] [Europe PMC] [Abstract]
• retinal rod cell differentiation Source: MGIInferred from genetic interactionⁱ
  • "The group E Sox genes Sox8 and Sox9 are regulated by Notch signaling and are required for Muller glial cell development in mouse retina."
    Muto A., Iida A., Satoh S., Watanabe S.
    Exp. Eye Res. 89:549-558(2009) [PubMed] [Europe PMC] [Abstract]
• Sertoli cell development Source: MGIInferred from genetic interactionⁱ
  • "Testis cord differentiation after the sex determination stage is independent of Sox9 but fails in the combined absence of Sox9 and Sox8."
    Barrionuevo F., Georg I., Scherthan H., Lecureuil C., Guillou F., Wegner M., Scherer G.
    Dev. Biol. 327:301-312(2009) [PubMed] [Europe PMC] [Abstract]
• Sertoli cell differentiation Source: MGIInferred from mutant phenotypeⁱ
  • "Functional analysis of Sox8 and Sox9 during sex determination in the mouse."
    Chaboissier M.C., Kobayashi A., Vidal V.I., Lutzkendorf S., van de Kant H.J., Wegner M., de Rooij D.G., Behringer R.R., Schedl A.
    Development 131:1891-1901(2004) [PubMed] [Europe PMC] [Abstract]
• signal transduction Source: UniProtKBInferred from mutant phenotypeⁱ
  • "SOX9 controls epithelial branching by activating RET effector genes during kidney development."
    Reginensi A., Clarkson M., Neirijnck Y., Lu B., Ohyama T., Groves A.K., Sock E., Wegner M., Costantini F., Chaboissier M.C., Schedl A.
    Hum. Mol. Genet. 20:1143-1153(2011) [PubMed] [Europe PMC] [Abstract]
• skeletal system development Source: UniProtKB
• somatic stem cell population maintenance Source: MGIInferred from mutant phenotypeⁱ
  • "SOX9 induces and maintains neural stem cells."
    Scott C.E., Wynn S.L., Sesay A., Cruz C., Cheung M., Gomez Gaviro M.V., Booth S., Gao B., Cheah K.S., Lovell-Badge R., Briscoe J.
    Nat. Neurosci. 13:1181-1189(2010) [PubMed] [Europe PMC] [Abstract]
• spermatogenesis Source: MGIInferred from genetic interactionⁱ
  • "Testis cord differentiation after the sex determination stage is independent of Sox9 but fails in the combined absence of Sox9 and Sox8."
    Barrionuevo F., Georg I., Scherthan H., Lecureuil C., Guillou F., Wegner M., Scherer G.
    Dev. Biol. 327:301-312(2009) [PubMed] [Europe PMC] [Abstract]
• tissue homeostasis Source: UniProtKBInferred from mutant phenotypeⁱ
  • "Reduced sox9 function promotes heart valve calcification phenotypes in vivo."
    Peacock J.D., Levay A.K., Gillaspie D.B., Tao G., Lincoln J.
    Circ. Res. 106:712-719(2010) [PubMed] [Europe PMC] [Abstract]
• trachea cartilage development Source: MGIInferred from mutant phenotypeⁱ
  • "Establishment of smooth muscle and cartilage juxtaposition in the developing mouse upper airways."
    Hines E.A., Jones M.K., Verheyden J.M., Harvey J.F., Sun X.
    Proc. Natl. Acad. Sci. U.S.A. 110:19444-19449(2013) [PubMed] [Europe PMC] [Abstract]
• ureter development Source: MGIInferred from genetic interactionⁱ
  • "Hydroureternephrosis due to loss of Sox9-regulated smooth muscle cell differentiation of the ureteric mesenchyme."
    Airik R., Trowe M.O., Foik A., Farin H.F., Petry M., Schuster-Gossler K., Schweizer M., Scherer G., Kist R., Kispert A.
    Hum. Mol. Genet. 19:4918-4929(2010) [PubMed] [Europe PMC] [Abstract]
• ureter morphogenesis Source: MGIInferred from genetic interactionⁱ
  • "SOX9 controls epithelial branching by activating RET effector genes during kidney development."
    Reginensi A., Clarkson M., Neirijnck Y., Lu B., Ohyama T., Groves A.K., Sock E., Wegner M., Costantini F., Chaboissier M.C., Schedl A.
    Hum. Mol. Genet. 20:1143-1153(2011) [PubMed] [Europe PMC] [Abstract]
• ureter smooth muscle cell differentiation Source: MGIInferred from mutant phenotypeⁱ
  • "Hydroureternephrosis due to loss of Sox9-regulated smooth muscle cell differentiation of the ureteric mesenchyme."
    Airik R., Trowe M.O., Foik A., Farin H.F., Petry M., Schuster-Gossler K., Schweizer M., Scherer G., Kist R., Kispert A.
    Hum. Mol. Genet. 19:4918-4929(2010) [PubMed] [Europe PMC] [Abstract]
• ureter urothelium development Source: UniProtKBInferred from expression patternⁱ
  • "An EGFR-ERK-SOX9 signaling cascade links urothelial development and regeneration to cancer."
    Ling S., Chang X., Schultz L., Lee T.K., Chaux A., Marchionni L., Netto G.J., Sidransky D., Berman D.M.
    Cancer Res. 71:3812-3821(2011) [PubMed] [Europe PMC] [Abstract]

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsⁱ

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyⁱ

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationⁱ

Keywords - Cellular componentⁱ

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingⁱ

Molecule processing

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationⁱ

Keywords - PTMⁱ

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressionⁱ

Gene expression databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactionⁱ

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structureⁱ

GO - Molecular functionⁱ

• beta-catenin binding Source: MGIInferred from physical interactionⁱ
  • "Arginine methyltransferase CARM1/PRMT4 regulates endochondral ossification."
    Ito T., Yadav N., Lee J., Furumatsu T., Yamashita S., Yoshida K., Taniguchi N., Hashimoto M., Tsuchiya M., Ozaki T., Lotz M., Bedford M.T., Asahara H.
    BMC Dev. Biol. 9:47-47(2009) [PubMed] [Europe PMC] [Abstract]
• bHLH transcription factor binding Source: MGI
• protein kinase A catalytic subunit binding Source: MGI

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structureⁱ

Secondary structure

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsⁱ

Compositional bias

Phylogenomic databases

Family and domain databases

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequenceⁱ

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusⁱ: Complete.

        10         20         30         40         50
MNLLDPFMKM TDEQEKGLSG APSPTMSEDS AGSPCPSGSG SDTENTRPQE 
        60         70         80         90        100
NTFPKGEPDL KKESEEDKFP VCIREAVSQV LKGYDWTLVP MPVRVNGSSK 
       110        120        130        140        150
NKPHVKRPMN AFMVWAQAAR RKLADQYPHL HNAELSKTLG KLWRLLNESE 
       160        170        180        190        200
KRPFVEEAER LRVQHKKDHP DYKYQPRRRK SVKNGQAEAE EATEQTHISP 
       210        220        230        240        250
NAIFKALQAD SPHSSSGMSE VHSPGEHSGQ SQGPPTPPTT PKTDVQAGKV 
       260        270        280        290        300
DLKREGRPLA EGGRQPPIDF RDVDIGELSS DVISNIETFD VNEFDQYLPP 
       310        320        330        340        350
NGHPGVPATH GQVTYTGSYG ISSTAPTPAT AGHVWMSKQQ APPPPPQQPP 
       360        370        380        390        400
QAPQAPQAPP QQQAPPQQPQ APQQQQAHTL TTLSSEPGQS QRTHIKTEQL 
       410        420        430        440        450
SPSHYSEQQQ HSPQQISYSP FNLPHYSPSY PPITRSQYDY ADHQNSGSYY 
       460        470        480        490        500
SHAAGQGSGL YSTFTYMNPA QRPMYTPIAD TSGVPSIPQT HSPQHWEQPV 

YTQLTRP                                                

Experimental Info

Sequence databases

Genome annotation databases

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsⁱ

• 100% Identity
• 90% Identity
• 50% Identity

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesⁱ

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Proteomic databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationⁱ

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousⁱ

Keywords - Technical termⁱ

Documents

1. MGD cross-references
   Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
2. PDB cross-references
   Index of Protein Data Bank (PDB) cross-references