Entity Details

Primary name SOX9_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP48436
EntryNameSOX9_HUMAN
FullNameTranscription factor SOX-9
TaxID9606
Evidenceevidence at protein level
Length509
SequenceStatuscomplete
DateCreated1996-02-01
DateModified2021-06-02

Ontological Relatives

GenesSOX9

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0000785 chromatin
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: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:0003682 chromatin binding
GO:0003700 DNA-binding transcription factor activity
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005667 transcription regulator complex
GO:0006334 nucleosome assembly
GO:0006338 chromatin remodeling
GO:0006357 regulation of transcription by RNA polymerase II
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:0007507 heart development
GO:0008013 beta-catenin binding
GO:0008284 positive regulation of cell population proliferation
GO:0008584 male gonad development
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:0019100 male germ-line sex determination
GO:0019933 cAMP-mediated signaling
GO:0030155 regulation of cell adhesion
GO:0030198 extracellular matrix organization
GO:0030279 negative regulation of ossification
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: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 transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
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:0048709 oligodendrocyte differentiation
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:0060174 limb bud formation
GO:0060221 retinal rod cell differentiation
GO:0060260 regulation of transcription initiation from RNA polymerase II promoter
GO:0060441 epithelial tube branching involved in lung morphogenesis
GO:0060487 lung epithelial cell differentiation
GO:0060517 epithelial cell proliferation involved in prostatic bud elongation
GO:0060532 bronchus cartilage development
GO:0060534 trachea cartilage development
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: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:0071773 cellular response to BMP stimulus
GO:0072034 renal vesicle induction
GO:0072190 ureter urothelium development
GO:0072193 ureter smooth muscle cell differentiation
GO:0072197 ureter morphogenesis
GO:0072289 metanephric nephron tubule formation
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: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 pri-miRNA transcription by RNA polymerase II
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: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

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR009071 High mobility group box domainDomainDomain
IPR022151 Sox developmental protein N-terminalDomainDomain
IPR029548 Transcription factor SOX-9FamilyFamily
IPR036910 High mobility group box domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
278850 OMIM46,XX sex reversal 2 (SRXX2)A condition in which male gonads develop in a genetic female (female to male sex reversal). The disease is caused by variants affecting the gene represented in this entry.
114290 OMIMCampomelic dysplasia (CMD1)A rare, often lethal, osteochondrodysplasia characterized by congenital bowing and angulation of long bones. Other skeletal defects include unusually small scapula, deformed pelvis and spine, and a missing pair of ribs. Craniofacial and ear defects are common. Most patients die soon after birth due to respiratory distress which has been attributed to hypoplasia of the tracheobronchial cartilage and small thoracic cage. Up to two-thirds of affected XY individuals have genital defects or may develop as phenotypic females. The disease is caused by variants affecting the gene represented in this entry.
616425 OMIM46,XY sex reversal 10 (SRXY10)A disorder of sex development. Affected individuals have a 46,XY karyotype, show gonadal dysgenesis with streak gonads, look like normal females at birth, do not develop secondary sexual characteristics at puberty and do not menstruate. The disease is caused by variants affecting the gene represented in this entry.

Interactions

36 interactions

InteractorPartnerSourcesPublicationsLink
SOX9_HUMANVATH_HUMANBioGRID, IntAct21988832 details
SOX9_HUMANRUNX2_HUMANBioGRID, DIP17142326 20593410 details
SOX9_HUMANWLS_HUMANUniProt28734904 31286866 details
SOX9_HUMANSTF1_HUMANBioGRID, HPRD9774680 details
SOX9_HUMANMAF_HUMANBioGRID, HPRD12381733 details
SOX9_HUMANMED12_HUMANBioGRID, HPRD12136106 details
SOX9_HUMANCR3L4_HUMANBioGRID12732631 details
SOX9_HUMANSOX9_HUMANBioGRID17277314 details
SOX9_HUMANHERC1_HUMANBioGRID24155239 details
SOX9_HUMANUBC9_HUMANBioGRID19692572 details
SOX9_HUMANFBXW7_HUMANBioGRID27566146 32024555 details
SOX9_HUMANGSK3B_HUMANBioGRID27566146 32024555 details
SOX9_HUMANELF3_HUMANBioGRID27310669 details
SOX9_HUMANHS71A_HUMANBioGRID, HPRD11356186 details
SOX9_HUMANHS71B_HUMANBioGRID, HPRD11356186 details
SOX9_HUMANEP300_HUMANBioGRID, HPRD12732631 15623506 19828133 details
SOX9_HUMANSCX_HUMANBioGRID19828133 details
SOX9_HUMANSMAD2_HUMANBioGRID15623506 details
SOX9_HUMANSMAD3_HUMANBioGRID15623506 details
SOX9_HUMANZBT7A_HUMANBioGRID23727861 details
SOX9_HUMANFBW1A_HUMANBioGRID25632159 details
SOX9_HUMANCUL3_HUMANBioGRID33173725 details
SOX9_HUMANCUL2_HUMANBioGRID33173725 details
SOX9_HUMANCUL1_HUMANBioGRID33173725 details
SOX9_HUMANCUL4A_HUMANBioGRID33173725 details
SOX9_HUMANCUL4B_HUMANBioGRID33173725 details
SOX9_HUMANCUL5_HUMANBioGRID33173725 details
SOX9_HUMANKEAP1_HUMANBioGRID33173725 details
SOX9_HUMANKLHL1_HUMANBioGRID33173725 details
SOX9_HUMANKLHL3_HUMANBioGRID33173725 details
SOX9_HUMANKLH13_HUMANBioGRID33173725 details
SOX9_HUMANTRAF2_HUMANHPRD12136106 details
SOX9_HUMANIMB1_HUMANHPRD11323423 details
SOX9_HUMANMINT_HUMANHPRD11331609 details
SOX9_HUMANCBP_HUMANHPRD12732631 details
SOX9_HUMANCREB1_HUMANHPRD19113914 details