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SOX9 SRY (sex determining region Y)-box 9 [Homo sapiens (human)]


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu19789 NM_000346 Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu19789C NM_000346 Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA. Customized vector On-demand 7-9 $269.00

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Gene Symbol SOX9
Entrez Gene ID 6662
Full Name SRY (sex determining region Y)-box 9
Synonyms CMD1, CMPD1, SRA1
General protein information
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

17

17q24.3

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].
Disorder

MIM: 608160

Campomelic dysplasia with autosomal sex reversal, 114290 (3);

mRNA Protein Product Sequence Price Select
NM_000346, 182765453 NP_000337, 4557853 transcription factor SOX-9 ORF Sequence $550.00
WikiPathways
WP474Endochondral Ossification
WP363Wnt Signaling Pathway NetPath
WP2064Neural Crest Differentiation
WP2431Spinal Cord Injury
Homo sapiens (human)SOX9NP_000337.1
Pan troglodytes (chimpanzee)SOX9NP_001009029.1
Macaca mulatta (Rhesus monkey)SOX9NP_001028040.1
Canis lupus familiaris (dog)SOX9NP_001002978.1
Bos taurus (cattle)SOX9XP_005221394.1
Mus musculus (house mouse)Sox9NP_035578.3
Rattus norvegicus (Norway rat)Sox9XP_003750998.1
Gallus gallus (chicken)SOX9NP_989612.1
Danio rerio (zebrafish)sox9aNP_571718.1
Xenopus (Silurana) tropicalis (western clawed frog)sox9NP_001016853.1
Process
IDNameEvidence
GO:0001501skeletal system developmentIMP
GO:0001502cartilage condensationISS
GO:0001503ossificationIEA
GO:0001658branching involved in ureteric bud morphogenesisIEA
GO:0001708cell fate specificationISS
GO:0001837epithelial to mesenchymal transitionISS
GO:0001894tissue homeostasisISS
GO:0001934positive regulation of protein phosphorylationISS
GO:0001942hair follicle developmentISS
GO:0002053positive regulation of mesenchymal cell proliferationISS
GO:0002683negative regulation of immune system processISS
GO:0003170heart valve developmentISS
GO:0003179heart valve morphogenesisISS
GO:0003188heart valve formationIEA
GO:0003203endocardial cushion morphogenesisISS
GO:0003413chondrocyte differentiation involved in endochondral bone morphogenesisIMP
GO:0003415chondrocyte hypertrophyISS
GO:0006334nucleosome assemblyIDA
GO:0006338chromatin remodelingIDA
GO:0006366transcription from RNA polymerase II promoterIDA
GO:0006366transcription from RNA polymerase II promoterIEA
GO:0006461protein complex assemblyIDA
GO:0006468protein phosphorylationIEA
GO:0007165signal transductionISS
GO:0007173epidermal growth factor receptor signaling pathwayISS
GO:0007283spermatogenesisISS
GO:0008284positive regulation of cell proliferationIMP
GO:0008584male gonad developmentIEP
GO:0008584male gonad developmentIMP
GO:0010564regulation of cell cycle processIMP
GO:0010634positive regulation of epithelial cell migrationIMP
GO:0014032neural crest cell developmentIEA
GO:0014068positive regulation of phosphatidylinositol 3-kinase signalingISS
GO:0019100male germ-line sex determinationISS
GO:0019933cAMP-mediated signalingIDA
GO:0030155regulation of cell adhesionIEA
GO:0030198extracellular matrix organizationIEA
GO:0030279negative regulation of ossificationISS
GO:0030502negative regulation of bone mineralizationIEA
GO:0030850prostate gland developmentIEP
GO:0030858positive regulation of epithelial cell differentiationISS
GO:0030879mammary gland developmentIEA
GO:0030903notochord developmentIEA
GO:0030916otic vesicle formationISS
GO:0031018endocrine pancreas developmentIEA
GO:0032331negative regulation of chondrocyte differentiationISS
GO:0032332positive regulation of chondrocyte differentiationIDA
GO:0032332positive regulation of chondrocyte differentiationIMP
GO:0035019somatic stem cell maintenanceISS
GO:0035622intrahepatic bile duct developmentIEA
GO:0042127regulation of cell proliferationISS
GO:0042981regulation of apoptotic processISS
GO:0043066negative regulation of apoptotic processIMP
GO:0043066negative regulation of apoptotic processISS
GO:0043491protein kinase B signalingIEA
GO:0045662negative regulation of myoblast differentiationISS
GO:0045732positive regulation of protein catabolic processIEA
GO:0045892negative regulation of transcription, DNA-templatedIMP
GO:0045893positive regulation of transcription, DNA-templatedIDA
GO:0045893positive regulation of transcription, DNA-templatedIMP
GO:0045944positive regulation of transcription from RNA polymerase II promoterIDA
GO:0046533negative regulation of photoreceptor cell differentiationISS
GO:0048709oligodendrocyte differentiationIEA
GO:0050679positive regulation of epithelial cell proliferationIEP
GO:0050679positive regulation of epithelial cell proliferationISS
GO:0050680negative regulation of epithelial cell proliferationISS
GO:0051216cartilage developmentISS
GO:0060008Sertoli cell differentiationISS
GO:0060009Sertoli cell developmentIEA
GO:0060018astrocyte fate commitmentIEA
GO:0060041retina development in camera-type eyeISS
GO:0060174limb bud formationIEA
GO:0060221retinal rod cell differentiationISS
GO:0060517epithelial cell proliferation involved in prostatic bud elongationISS
GO:0060729intestinal epithelial structure maintenanceISS
GO:0060784regulation of cell proliferation involved in tissue homeostasisISS
GO:0061036positive regulation of cartilage developmentIDA
GO:0061138morphogenesis of a branching epitheliumISS
GO:0070168negative regulation of biomineral tissue developmentISS
GO:0070371ERK1 and ERK2 cascadeISS
GO:0071260cellular response to mechanical stimulusISS
GO:0071300cellular response to retinoic acidIEP
GO:0071347cellular response to interleukin-1IEP
GO:0071364cellular response to epidermal growth factor stimulusISS
GO:0071504cellular response to heparinISS
GO:0071560cellular response to transforming growth factor beta stimulusIDA
GO:0072034renal vesicle inductionISS
GO:0072190ureter urothelium developmentIEA
GO:0072197ureter morphogenesisIEA
GO:0072289metanephric nephron tubule formationISS
GO:0090090negative regulation of canonical Wnt signaling pathwayISS
GO:0090103cochlea morphogenesisISS
GO:0090184positive regulation of kidney developmentISS
GO:0090190positive regulation of branching involved in ureteric bud morphogenesisISS
GO:2000020positive regulation of male gonad developmentIDA
GO:2000138positive regulation of cell proliferation involved in heart morphogenesisIEA
GO:2000741positive regulation of mesenchymal stem cell differentiationIDA
Component
IDNameEvidence
GO:0005634nucleusIDA
GO:0005667transcription factor complexIEA
GO:0005730nucleolusIDA
GO:0043234protein complexIDA
Function
IDNameEvidence
GO:0001046core promoter sequence-specific DNA bindingIDA
GO:0001077RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcriptionIDA
GO:0001158enhancer sequence-specific DNA bindingISS
GO:0003682chromatin bindingIDA
GO:0003700sequence-specific DNA binding transcription factor activityIDA
GO:0003700sequence-specific DNA binding transcription factor activityIMP
GO:0003705RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityIDA
GO:0004672protein kinase activityISS
GO:0005515protein bindingIPI
GO:0008013beta-catenin bindingIEA
GO:0034236protein kinase A catalytic subunit bindingIPI
GO:0035326enhancer bindingIDA
GO:0043425bHLH transcription factor bindingIEA
GeneCards SOX9
PDB 1SX9, 4EUW, 1S9M
UniProt P48436
Vega OTTHUMG00000166300
MIM 608160
Ensembl ENSG00000125398
HGNC 11204
HPRD 06427

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