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用途:
For Research Use Only. Not for use in diagnostic or therapeutic procedures.
Transcription factor that plays a key role in chondrocytes differentiation and skeletal development. 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. Also binds to some promoter regions. Plays a central role in successive steps of chondrocyte differentiation. Absolutely required for precartilaginous condensation, the first step in chondrogenesis during which skeletal progenitors differentiate into prechondrocytes. Together with SOX5 and SOX6, required for overt chondrogenesis when condensed prechondrocytes differentiate into early stage chondrocytes, the second step in chondrogenesis. 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. 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. 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. Mechanistically, helps, but is not required, to remove epigenetic signatures of transcriptional repression and deposit active promoter and enhancer marks at chondrocyte-specific genes. Acts in cooperation with the Hedgehog pathway-dependent GLI (GLI1 and GLI3) transcription factors. 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. Controls epithelial branching during kidney development.
基因功能參考文獻:
Results find SOX9 highly expressed in non-small cell lung cancer (NSCLC) tissues, and positively correlates with that of MALAT1. Moreover, SOX9 protein expression was higher in NSCLC tissues expressing highly especially MALAT1 mRNA. PMID: 29896925
results demonstrate that the inhibition of miR-30d attenuates the apoptosis and extracellular matrix degradation of degenerative human nucleus pulposus cells by up-regulating SOX9, suggesting a potential therapeutic target for intervertebral disc degeneration PMID: 30243741
Our study demonstrated that Reg IV positively regulates the expression of SOX9 and is involved in tumor cell invasion and migration in gastric cancer. PMID: 29587675
SOX9 may be involved in the tumorigenesis and progression of oral squamous cell carcinoma (OSCC). Furthermore, its cytoplasmic expression represents a potential predictive biomarker for tumor aggressiveness and OSCC prognosis. PMID: 30132562
This is supported by the fact that ECG correlates with the expression of SOX9 indicating that this biomarker probably plays an important role in the pathogenesis of gastric cancer and ECG formation. PMID: 29703178
role in regulation of extracellular matrix balance, the inflammatory process, and the immune response of inflamed dental pulp PMID: 29571909
Study found a positive relationship between LINC00052 and miR-101-3p, and a negative relationship between miR-101-3p and SOX9 in hepatocellular carcinoma (HCC) tissues. Besides, miR-101-3p was involved in LINC00052 inhibiting HCC cells proliferation and metastasis. At the molecular level, LINC00052 downgulated SOX9 to inhibit HCC cells proliferation and metastasis by interacting with miR-101-3p. PMID: 30098428
SOX9 expression is related to prognosis in patients with oesophageal squamous cell carcinoma, although it is not an independent prognostic factor. PMID: 29936467
the findings of this study establish the SOX9/CA9-mediated oncogenic pathway in glioma, the inhibition of which enhances the sensitivity of glioma cells to Temozolomide (TMZ) treatment, and thus highlights the value of developing small molecules or antibodies against the SOX9/CA9 pathway, for combination therapy with TMZ, in the more efficient management of glioma PMID: 29749469
Heterogeneous Expression of Embryonal Development Master Regulator SOX9 in Patients with Pancreatic Cancer PMID: 30168061
Melatonin inhibits cancer stem cell by down-regulation of SOX9-mediated signaling pathway in osteosarcoma PMID: 29689273
Our results demonstrate that the linc-ROR-miRNA-SOX9 regulatory network may represent a novel therapeutic target for esophageal squamous cell carcinoma PMID: 29237490
These results indicate that THRAP3 negatively regulates SOX9 transcriptional activity as a cofactor of a SOX9 transcriptional complex during chondrogenesis. PMID: 28770354
MiR-19a could promote cell viability and migration of chondrocyte via positively regulating SOX9 expression through NF-kappaB signaling pathway. PMID: 29306212
Data suggest that the SOX9 transcription factor (SOX9)-fibroblast growth factor receptor 2 (FGFR2b) feed-forward loop has a lineage dependency role in pancreatic ductal adenocarcinoma (PDAC). PMID: 28796141
Depletion of KDM6A inhibits the expression of SOX9, Col2a1, ACAN and results in increased H3K27me3 and decreased H3K4me3 levels. PMID: 29171124
Our results demonstrate that SOX9 plays a crucial role in chordoma. Targeting SOX9 provides a new rationale for treatment of chordoma PMID: 28606919
Odd-skipped related 1 (OSR1) downregulated the activity of the Wnt signaling pathway by suppressing the expression of sex-determining region Y-box 9 (SOX9) and beta-catenin. PMID: 29660200
Sex determining region Y box 9 (Sox9) plays an important role in chemoresistance by the induction of stemness in pancreatic cancer cells. PMID: 28984791
Knockdown of SOX9 expression by RNA interference reduces cell proliferation and induces apoptosis of lung cancer cells, which was consistent with the results obtained from silencing the expression of LASP-1 in NCIH1650 cells. PMID: 29138807
This study provides evidence of a novel signaling pathway for TGF-beta in cartilage that involves post-translational stabilization of Sox9 protein through Smad2/3 and p38 signaling pathways. PMID: 27929080
In conclusion, these results highlight the potential therapeutic effects of Andro in treatment of chondrosarcoma via targeting the TCF-1/SOX9 axis. PMID: 28485543
These results identify a functional role for SOX9 in regulating colorectal cancer cell plasticity and metastasis, and provide a strong rationale for a rapamycin-based therapeutic strategy. PMID: 27571710
Sox9 is induced by TGF-beta in the kidney fibroblast and acted as an important downstream mediator of TGF-beta signaling in promoting renal fibrosis PMID: 29158184
Diagnostic tools such as whole-exome sequencing, targeted-gene sequencing and low-density CNV arrays, often miss CNVs within the SOX9 regulatory region. Yet, given the numerous reports, it is likely that CNVs in the SOX9 regulatory region may be a frequent genetic cause of 46,XX DSD. PMID: 28317102
Studied the role upregulation of RUNX2 in endocrine resistance in breast cancer. PMID: 28507152
OPN is a useful surrogate marker of SOX9 in hepatocellular carcinoma. PMID: 27457505
MicroRNA-494 promotes extracellular matrix degradation and apoptosis of degenerative human nucleus pulposus cells by directly targeting SOX9. PMID: 28427186
Klotho suppresses Sox9 upregulation and intranuclear translocation. Klotho inhibits high phosphate-induced osteogenic activity in human aortic valve interstitial cells. PMID: 28332126
Genetic variants of SOX9 are associated with susceptibility of gliomas. PMID: 27589569
we identified SOX9 as a functional target protein of miR-524-5p and found that SOX9 overexpression could counteracts the chemosensitizing effects of miR-524-5p. PMID: 27880941
Biomarker expression in pancreatic ductal adenocarcinoma (PDAC) of CXCR4, SMAD4, SOX9 and IFIT3 will be prospectively assessed by immunohistochemistry and verified by rt.-PCR from tumor and adjacent healthy pancreatic tissue of surgical specimen. PMID: 28356064
A critical level of endogenous active SOX9 needed to maintain colorectal tumor cell growth. PMID: 27429045
ERG and SOX9 are potential biomarkers for prediction of response to docetaxel treatment in metastatic castration-resistant prostate cancer patients. PMID: 27863438
We have provided evidence that truncating mutations in SOX9 (particularly exon 3 truncating mutations) are recurrent in colorectal carcinoma PMID: 27248473
This study suggested that G allele at rs12941170 was protective, which could decrease the risk for NSOCs from Western Han Chinese population. PMID: 28068523
HSP60 regulation of SOX9 ubiquitination mitigates the development of knee osteoarthritis. PMID: 27118120
Data show that SOX9 regulates CEACAM1 primarily via Sp1 and ETS1. PMID: 26885752
Sox9 confers stemness properties of hepatocellular carcinoma through Frizzled-7 mediated Wnt/beta-catenin pathway. PMID: 27105493
Data show that the gene encoding the transcription factor SOX9 was identified by a global transcriptomic approach as an HDAC9 target gene. PMID: 26930713
SOX9 is a proliferation and stem cell factor in hepatocellular carcinoma and possess widespread prognostic significance in different cancer types PMID: 29121666
Sox9 and Ngn3, key transcription factors associated with pancreatic development. PMID: 27836003
Expression of bone morphogenetic protein (BMP) 4, an upstream stimulator of SOX9, was upregulated by CG. PMID: 27931264
Xenogeneic implantation of Sox9-overexpressing hUCMSCs embedded in the BMG/fibrin scaffolds promotes the formation of cartilage-like tissue without inducing evident host immune response. Therefore, Sox9-overexpressing hUCMSCs represent a promising cell candidate for cartilage tissue engineering. PMID: 28028895
KLF15 activates SOX9 expression directly. SOX9 is involved in KLF15 function during chondrogenic differentiation. PMID: 28923246
Tomo-Seq Identifies SOX9 as a Key Regulator of Cardiac Fibrosis During Ischemic Injury PMID: 28724751
High SOX9 expression is associated with glioblastoma. PMID: 27911279
These findings suggest that SOX9 may play an important role in tumor progression of Renal Cell Carcinoma and Bladder Cancer and it may be used as a biomarker of this malignancy. PMID: 28118628
Loss of DDRGK1 decreases SOX9 expression and causes a human skeletal dysplasia. PMID: 28263186
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相關疾病:
Campomelic dysplasia (CMD1); 46,XX sex reversal 2 (SRXX2); 46,XY sex reversal 10 (SRXY10)