• THAT   AND
  • THAT   AND


Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000346 Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA. GenEZ ORF Cloning On-demand TBD TBD

*Business Day

Related Services

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

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the SOX9 gene?

The SOX9 gene provides instructions for making a protein that plays a critical role during embryonic development. The SOX9 protein is especially important for the development of the skeleton and reproductive system. This protein attaches (binds) to specific regions of DNA and regulates the activity of other genes. On the basis of this action, the SOX9 protein is called a transcription factor.

Interactant

Our customer service representatives are available 24 hours a day, Monday through Friday; please contact us anytime for assistance.