GENERAL INFORMATIONi
Gene namei SOX9
Synonyms CMD1, CMPD1, SRA1
Gene descriptioni SRY-box transcription factor 9
Protein classi Cancer-related genes
Disease related genes
Human disease related genes
Transcription factors
Predicted locationi Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi
Chromosome 17
Cytoband q24.3
Chromosome location (bp) 72121020 - 72126416
Number of transcriptsi 1
Ensembl ENSG00000125398 (version 109)
Entrez gene 6662
HGNC HGNC:11204
UniProt P48436 (UniProt - Evidence at protein level)
neXtProt NX_P48436
GeneCards SOX9
Antibodypedia SOX9 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i Transcription factor that plays a key role in chondrocytes differentiation and skeletal development 1. Specifically binds the 5'-ACAAAG-3' DNA motif present in enhancers and super-enhancers and promotes expression of genes important for chondrogenesis, including cartilage matrix protein-coding genes COL2A1, COL4A2, COL9A1, COL11A2 and ACAN, SOX5 and SOX6 2. Also binds to some promoter regions (By similarity). Plays a central role in successive steps of chondrocyte differentiation (By similarity). Absolutely required for precartilaginous condensation, the first step in chondrogenesis during which skeletal progenitors differentiate into prechondrocytes (By similarity). Together with SOX5 and SOX6, required for overt chondrogenesis when condensed prechondrocytes differentiate into early stage chondrocytes, the second step in chondrogenesis (By similarity). Later, required to direct hypertrophic maturation and block osteoblast differentiation of growth plate chondrocytes: maintains chondrocyte columnar proliferation, delays prehypertrophy and then prevents osteoblastic differentiation of chondrocytes by lowering beta-catenin (CTNNB1) signaling and RUNX2 expression (By similarity). Also required for chondrocyte hypertrophy, both indirectly, by keeping the lineage fate of chondrocytes, and directly, by remaining present in upper hypertrophic cells and transactivating COL10A1 along with MEF2C (By similarity). Low lipid levels are the main nutritional determinant for chondrogenic commitment of skeletal progenitor cells: when lipids levels are low, FOXO (FOXO1 and FOXO3) transcription factors promote expression of SOX9, which induces chondrogenic commitment and suppresses fatty acid oxidation (By similarity). Mechanistically, helps, but is not required, to remove epigenetic signatures of transcriptional repression and deposit active promoter and enhancer marks at chondrocyte-specific genes (By similarity). Acts in cooperation with the Hedgehog pathway-dependent GLI (GLI1 and GLI3) transcription factors (By similarity). In addition to cartilage development, also acts as a regulator of proliferation and differentiation in epithelial stem/progenitor cells: involved in the lung epithelium during branching morphogenesis, by balancing proliferation and differentiation and regulating the extracellular matrix (By similarity). Controls epithelial branching during kidney development (By similarity). show less
Molecular function (UniProt)i Activator, DNA-binding
Biological process (UniProt)i Differentiation, Transcription, Transcription regulation
Gene summary (Entrez)i 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] show less
PROTEIN INFORMATIONi
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)		 Transmembrane regions
(predicted)
SOX9-201
ENSP00000245479
ENST00000245479
P48436
[Direct mapping] Transcription factor SOX-9
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Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Transcription factors
   Other all-alpha-helical DNA-binding domains
Cancer-related genes
   Candidate cancer biomarkers
Disease related genes
Human disease related genes
   Congenital malformations
   Other congenital malformations
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription by RNA polymerase II]
GO:0000785 [chromatin]
GO:0000976 [transcription cis-regulatory region binding]
GO:0000978 [RNA polymerase II cis-regulatory region sequence-specific DNA binding]
GO:0000981 [DNA-binding transcription factor activity, RNA polymerase II-specific]
GO:0000987 [cis-regulatory region sequence-specific DNA binding]
GO:0001228 [DNA-binding transcription activator activity, RNA polymerase II-specific]
GO:0001501 [skeletal system development]
GO:0001502 [cartilage condensation]
GO:0001503 [ossification]
GO:0001658 [branching involved in ureteric bud morphogenesis]
GO:0001708 [cell fate specification]
GO:0001837 [epithelial to mesenchymal transition]
GO:0001894 [tissue homeostasis]
GO:0001934 [positive regulation of protein phosphorylation]
GO:0001942 [hair follicle development]
GO:0002009 [morphogenesis of an epithelium]
GO:0002053 [positive regulation of mesenchymal cell proliferation]
GO:0002062 [chondrocyte differentiation]
GO:0002063 [chondrocyte development]
GO:0002067 [glandular epithelial cell differentiation]
GO:0002683 [negative regulation of immune system process]
GO:0003170 [heart valve development]
GO:0003179 [heart valve morphogenesis]
GO:0003180 [aortic valve morphogenesis]
GO:0003188 [heart valve formation]
GO:0003203 [endocardial cushion morphogenesis]
GO:0003413 [chondrocyte differentiation involved in endochondral bone morphogenesis]
GO:0003415 [chondrocyte hypertrophy]
GO:0003430 [growth plate cartilage chondrocyte growth]
GO:0003677 [DNA binding]
GO:0003682 [chromatin binding]
GO:0003700 [DNA-binding transcription factor activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005667 [transcription regulator complex]
GO:0006334 [nucleosome assembly]
GO:0006338 [chromatin remodeling]
GO:0006355 [regulation of DNA-templated transcription]
GO:0006357 [regulation of transcription by RNA polymerase II]
GO:0006366 [transcription by RNA polymerase II]
GO:0006468 [protein phosphorylation]
GO:0006915 [apoptotic process]
GO:0007010 [cytoskeleton organization]
GO:0007165 [signal transduction]
GO:0007173 [epidermal growth factor receptor signaling pathway]
GO:0007219 [Notch signaling pathway]
GO:0007283 [spermatogenesis]
GO:0007417 [central nervous system development]
GO:0007507 [heart development]
GO:0008013 [beta-catenin binding]
GO:0008283 [cell population proliferation]
GO:0008284 [positive regulation of cell population proliferation]
GO:0008584 [male gonad development]
GO:0010463 [mesenchymal cell proliferation]
GO:0010467 [gene expression]
GO:0010468 [regulation of gene expression]
GO:0010564 [regulation of cell cycle process]
GO:0010628 [positive regulation of gene expression]
GO:0010629 [negative regulation of gene expression]
GO:0010634 [positive regulation of epithelial cell migration]
GO:0014032 [neural crest cell development]
GO:0014036 [neural crest cell fate specification]
GO:0014068 [positive regulation of phosphatidylinositol 3-kinase signaling]
GO:0014070 [response to organic cyclic compound]
GO:0019100 [male germ-line sex determination]
GO:0019933 [cAMP-mediated signaling]
GO:0021780 [glial cell fate specification]
GO:0030154 [cell differentiation]
GO:0030155 [regulation of cell adhesion]
GO:0030198 [extracellular matrix organization]
GO:0030238 [male sex determination]
GO:0030279 [negative regulation of ossification]
GO:0030282 [bone mineralization]
GO:0030502 [negative regulation of bone mineralization]
GO:0030850 [prostate gland development]
GO:0030857 [negative regulation of epithelial cell differentiation]
GO:0030858 [positive regulation of epithelial cell differentiation]
GO:0030879 [mammary gland development]
GO:0030903 [notochord development]
GO:0030916 [otic vesicle formation]
GO:0031018 [endocrine pancreas development]
GO:0032331 [negative regulation of chondrocyte differentiation]
GO:0032332 [positive regulation of chondrocyte differentiation]
GO:0032808 [lacrimal gland development]
GO:0032991 [protein-containing complex]
GO:0034236 [protein kinase A catalytic subunit binding]
GO:0034504 [protein localization to nucleus]
GO:0035019 [somatic stem cell population maintenance]
GO:0035622 [intrahepatic bile duct development]
GO:0042127 [regulation of cell population proliferation]
GO:0042981 [regulation of apoptotic process]
GO:0043066 [negative regulation of apoptotic process]
GO:0043425 [bHLH transcription factor binding]
GO:0043491 [protein kinase B signaling]
GO:0043565 [sequence-specific DNA binding]
GO:0045165 [cell fate commitment]
GO:0045595 [regulation of cell differentiation]
GO:0045662 [negative regulation of myoblast differentiation]
GO:0045668 [negative regulation of osteoblast differentiation]
GO:0045732 [positive regulation of protein catabolic process]
GO:0045892 [negative regulation of DNA-templated transcription]
GO:0045893 [positive regulation of DNA-templated transcription]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
GO:0046322 [negative regulation of fatty acid oxidation]
GO:0046533 [negative regulation of photoreceptor cell differentiation]
GO:0048665 [neuron fate specification]
GO:0048709 [oligodendrocyte differentiation]
GO:0048873 [homeostasis of number of cells within a tissue]
GO:0050673 [epithelial cell proliferation]
GO:0050679 [positive regulation of epithelial cell proliferation]
GO:0050680 [negative regulation of epithelial cell proliferation]
GO:0051216 [cartilage development]
GO:0060008 [Sertoli cell differentiation]
GO:0060009 [Sertoli cell development]
GO:0060018 [astrocyte fate commitment]
GO:0060041 [retina development in camera-type eye]
GO:0060070 [canonical Wnt signaling pathway]
GO:0060174 [limb bud formation]
GO:0060221 [retinal rod cell differentiation]
GO:0060350 [endochondral bone morphogenesis]
GO:0060441 [epithelial tube branching involved in lung morphogenesis]
GO:0060487 [lung epithelial cell differentiation]
GO:0060509 [type I pneumocyte differentiation]
GO:0060512 [prostate gland morphogenesis]
GO:0060517 [epithelial cell proliferation involved in prostatic bud elongation]
GO:0060532 [bronchus cartilage development]
GO:0060534 [trachea cartilage development]
GO:0060575 [intestinal epithelial cell differentiation]
GO:0060729 [intestinal epithelial structure maintenance]
GO:0060784 [regulation of cell proliferation involved in tissue homeostasis]
GO:0061036 [positive regulation of cartilage development]
GO:0061046 [regulation of branching involved in lung morphogenesis]
GO:0061138 [morphogenesis of a branching epithelium]
GO:0061145 [lung smooth muscle development]
GO:0061323 [cell proliferation involved in heart morphogenesis]
GO:0065003 [protein-containing complex assembly]
GO:0070168 [negative regulation of biomineral tissue development]
GO:0070371 [ERK1 and ERK2 cascade]
GO:0070384 [Harderian gland development]
GO:0070542 [response to fatty acid]
GO:0071260 [cellular response to mechanical stimulus]
GO:0071300 [cellular response to retinoic acid]
GO:0071347 [cellular response to interleukin-1]
GO:0071364 [cellular response to epidermal growth factor stimulus]
GO:0071504 [cellular response to heparin]
GO:0071560 [cellular response to transforming growth factor beta stimulus]
GO:0071599 [otic vesicle development]
GO:0071773 [cellular response to BMP stimulus]
GO:0072034 [renal vesicle induction]
GO:0072089 [stem cell proliferation]
GO:0072170 [metanephric tubule development]
GO:0072189 [ureter development]
GO:0072190 [ureter urothelium development]
GO:0072193 [ureter smooth muscle cell differentiation]
GO:0072197 [ureter morphogenesis]
GO:0072289 [metanephric nephron tubule formation]
GO:0085029 [extracellular matrix assembly]
GO:0090090 [negative regulation of canonical Wnt signaling pathway]
GO:0090103 [cochlea morphogenesis]
GO:0090184 [positive regulation of kidney development]
GO:0090190 [positive regulation of branching involved in ureteric bud morphogenesis]
GO:0097065 [anterior head development]
GO:0097152 [mesenchymal cell apoptotic process]
GO:0097157 [pre-mRNA intronic binding]
GO:0098609 [cell-cell adhesion]
GO:1901203 [positive regulation of extracellular matrix assembly]
GO:1902732 [positive regulation of chondrocyte proliferation]
GO:1902894 [negative regulation of miRNA transcription]
GO:1904864 [negative regulation of beta-catenin-TCF complex assembly]
GO:1990837 [sequence-specific double-stranded DNA binding]
GO:2000020 [positive regulation of male gonad development]
GO:2000138 [positive regulation of cell proliferation involved in heart morphogenesis]
GO:2000648 [positive regulation of stem cell proliferation]
GO:2000741 [positive regulation of mesenchymal stem cell differentiation]
GO:2000794 [regulation of epithelial cell proliferation involved in lung morphogenesis]
GO:2001054 [negative regulation of mesenchymal cell apoptotic process]
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 509 aa
56.1 kDa 		No 0

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