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SOX9 cDNA ORF clone, Homo sapiens (human)

Summary

Gene Symbol SOX9
Entrez Gene ID 6662
Full Name SRY (sex determining region Y)-box 9
Synonyms CMD1, CMPD1, SRA1, SRXX2, SRXY10
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]. lac of sum
Disorder MIM:

608160

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

Reference Sequences (RefSeq)

mRNA and Protein(s)

mRNA Protein Name
NM_000346 NP_000337 transcription factor SOX-9

Pathways from BioSystems


Homologies


Homo sapiens (human) SOX9 NP_000337.1
Pan troglodytes (chimpanzee) SOX9 NP_001009029.1
Macaca mulatta (Rhesus monkey) SOX9 NP_001028040.1
Canis lupus familiaris (dog) SOX9 NP_001002978.1
Bos taurus (cattle) SOX9 XP_005221394.1
Mus musculus (house mouse) Sox9 NP_035578.3
Rattus norvegicus (Norway rat) Sox9 XP_003750998.1
Gallus gallus (chicken) SOX9 NP_989612.1
Danio rerio (zebrafish) sox9a NP_571718.1
Xenopus (Silurana) tropicalis (western clawed frog) sox9 NP_001016853.1

Gene Ontology


Bibliography

Related articles in PubMed

  1. Sox9 and programming of liver and pancreatic progenitors. Kawaguchi Y. J Clin Invest, 2013 May 1. PMID 23635786.
  2. ERG induces androgen receptor-mediated regulation of SOX9 in prostate cancer. Cai C, et al. J Clin Invest, 2013 Mar 1. PMID 23426182.
  3. A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. Porcu E, et al. PLoS Genet, 2013. PMID 23408906.
  4. SOX9 regulates low density lipoprotein receptor-related protein 6 (LRP6) and T-cell factor 4 (TCF4) expression and Wnt/β-catenin activation in breast cancer. Wang H, et al. J Biol Chem, 2013 Mar 1. PMID 23306204.
  5. Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. Hancock DB, et al. PLoS Genet, 2012. PMID 23284291.

See all (181) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

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

  1. review of the role of Sox9 in programming liver and pancreatic progenitors [review]
    Title: Sox9 and programming of liver and pancreatic progenitors.
  2. inhibition of LEF-1 via miR-449a led to the subsequent repression of Sox 9, which is a well-established regulator of chondrogenesis.
    Title: miR-449a regulates the chondrogenesis of human mesenchymal stem cells through direct targeting of lymphoid enhancer-binding factor-1.
  3. In prostate cancer, ERG redirects androgen receptor to a set of genes including SOX9 that are not normally androgen stimulated.
    Title: ERG induces androgen receptor-mediated regulation of SOX9 in prostate cancer.
  4. NF1 and SOX9 are the most under- and over-expressed genes in NF1-mutated tumors, respectively.
    Title: Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma.
  5. SOX9 regulates low density lipoprotein receptor-related protein 6 (LRP6) and T-cell factor 4 (TCF4) expression and Wnt/beta-catenin activation in breast cancer.
    Title: SOX9 regulates low density lipoprotein receptor-related protein 6 (LRP6) and T-cell factor 4 (TCF4) expression and Wnt/β-catenin activation in breast cancer.
  6. The expression of SOX9 as a chondrogenic marker could be an indicator for the extent of degeneration in human ligaments in patients with osteoarthritis of the knee.
    Title: The extent of degeneration of cruciate ligament is associated with chondrogenic differentiation in patients with osteoarthritis of the knee.
  7. miR-101 may suppress human hepatocellular carcinoma tumor progression by down-regulating SOX9
    Title: MicroRNA-101 suppresses SOX9-dependent tumorigenicity and promotes favorable prognosis of human hepatocellular carcinoma.
  8. Our results demonstrate that Sox9 is sufficient to drive columnar differentiation of squamous epithelium and expression of an intestinal differentiation marker, reminiscent of BE.
    Title: Sox9 drives columnar differentiation of esophageal squamous epithelium: a possible role in the pathogenesis of Barrett's esophagus.
  9. HNF6 and Sox9 are new biomarkers of pancreatic acinar-to-ductal metaplasia and constitute candidate targets for preventive treatment in cases when acinar-to-ductal metaplasia may lead to cancer.
    Title: Role of the ductal transcription factors HNF6 and Sox9 in pancreatic acinar-to-ductal metaplasia.
  10. Expression profiling of Sox9-null prostate epithelial cells revealed that the role of Sox9 in the initiation of prostate development may relate to its regulation of multiple cytokeratins and cell adherence/ polarity.
    Title: Sox9 is required for prostate development and prostate cancer initiation.
Submit: New GeneRIF Correction See all (139)

The following SOX9 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the SOX9 cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

***CloneID RefSeq Accession Definition **Vector *Turnaround time Price Select
OHu19789
 NM_000346 Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK		 $219.50-$307.30
$439.00
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*Business Day

** You may select a custom vector to replace pcDNA3.1+/C-(K)DYK after clone is added to cart.

** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.

Reference Sequences (Refseq)


CloneID OHu19789
Clone ID Related Accession (Same CDS sequence) NM_000346
Accession Version NM_000346.3 Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 1530bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags COA
ORF Insert Method CloneEZ® Seamless cloning technology
Structure linear
Update Date 25-JUN-2015
Organism Homo sapiens (human)
Product transcription factor SOX-9
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC007461.8, Z46629.1, BC007951.2 and BC018276.1. This sequence is a reference standard in the RefSeqGene project. On Apr 12, 2008 this sequence version replaced gi:37704387. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: Z46629.1, BC056420.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. 

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
1441
1501
ATGAATCTCC TGGACCCCTT CATGAAGATG ACCGACGAGC AGGAGAAGGG CCTGTCCGGC 
GCCCCCAGCC CCACCATGTC CGAGGACTCC GCGGGCTCGC CCTGCCCGTC GGGCTCCGGC 
TCGGACACCG AGAACACGCG GCCCCAGGAG AACACGTTCC CCAAGGGCGA GCCCGATCTG 
AAGAAGGAGA GCGAGGAGGA CAAGTTCCCC GTGTGCATCC GCGAGGCGGT CAGCCAGGTG 
CTCAAAGGCT ACGACTGGAC GCTGGTGCCC ATGCCGGTGC GCGTCAACGG CTCCAGCAAG 
AACAAGCCGC ACGTCAAGCG GCCCATGAAC GCCTTCATGG TGTGGGCGCA GGCGGCGCGC 
AGGAAGCTCG CGGACCAGTA CCCGCACTTG CACAACGCCG AGCTCAGCAA GACGCTGGGC 
AAGCTCTGGA GACTTCTGAA CGAGAGCGAG AAGCGGCCCT TCGTGGAGGA GGCGGAGCGG 
CTGCGCGTGC AGCACAAGAA GGACCACCCG GATTACAAGT ACCAGCCGCG GCGGAGGAAG 
TCGGTGAAGA ACGGGCAGGC GGAGGCAGAG GAGGCCACGG AGCAGACGCA CATCTCCCCC 
AACGCCATCT TCAAGGCGCT GCAGGCCGAC TCGCCACACT CCTCCTCCGG CATGAGCGAG 
GTGCACTCCC CCGGCGAGCA CTCGGGGCAA TCCCAGGGCC CACCGACCCC ACCCACCACC 
CCCAAAACCG ACGTGCAGCC GGGCAAGGCT GACCTGAAGC GAGAGGGGCG CCCCTTGCCA 
GAGGGGGGCA GACAGCCCCC TATCGACTTC CGCGACGTGG ACATCGGCGA GCTGAGCAGC 
GACGTCATCT CCAACATCGA GACCTTCGAT GTCAACGAGT TTGACCAGTA CCTGCCGCCC 
AACGGCCACC CGGGGGTGCC GGCCACGCAC GGCCAGGTCA CCTACACGGG CAGCTACGGC 
ATCAGCAGCA CCGCGGCCAC CCCGGCGAGC GCGGGCCACG TGTGGATGTC CAAGCAGCAG 
GCGCCGCCGC CACCCCCGCA GCAGCCCCCA CAGGCCCCGC CGGCCCCGCA GGCGCCCCCG 
CAGCCGCAGG CGGCGCCCCC ACAGCAGCCG GCGGCACCCC CGCAGCAGCC ACAGGCGCAC 
ACGCTGACCA CGCTGAGCAG CGAGCCGGGC CAGTCCCAGC GAACGCACAT CAAGACGGAG 
CAGCTGAGCC CCAGCCACTA CAGCGAGCAG CAGCAGCACT CGCCCCAACA GATCGCCTAC 
AGCCCCTTCA ACCTCCCACA CTACAGCCCC TCCTACCCGC CCATCACCCG CTCACAGTAC 
GACTACACCG ACCACCAGAA CTCCAGCTCC TACTACAGCC ACGCGGCAGG CCAGGGCACC 
GGCCTCTACT CCACCTTCAC CTACATGAAC CCCGCTCAGC GCCCCATGTA CACCCCCATC 
GCCGACACCT CTGGGGTCCC TTCCATCCCG CAGACCCACA GCCCCCAGCA CTGGGAACAA 
CCCGTCTACA CACAGCTCAC TCGACCTTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_000337.1
CDS373..1902
Misc Feature(1)229..231(+)
Misc Feature(2)433..657(+)
Misc Feature(3)682..894(+)
Misc Feature(4)691..858(+)
Misc Feature(5)1003..1005(+)
Exon (1)1..803
Gene:SOX9
Gene Synonym:
Exon (2)804..1057
Gene:SOX9
Gene Synonym:
Exon (3)1058..3935
Gene:SOX9
Gene Synonym:
Translation

Target ORF information:

RefSeq Version NM_000346
Organism Homo sapiens (human)
Definition Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
 NM_000346

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
1441
1501
ATGAATCTCC TGGACCCCTT CATGAAGATG ACCGACGAGC AGGAGAAGGG CCTGTCCGGC 
GCCCCCAGCC CCACCATGTC CGAGGACTCC GCGGGCTCGC CCTGCCCGTC GGGCTCCGGC 
TCGGACACCG AGAACACGCG GCCCCAGGAG AACACGTTCC CCAAGGGCGA GCCCGATCTG 
AAGAAGGAGA GCGAGGAGGA CAAGTTCCCC GTGTGCATCC GCGAGGCGGT CAGCCAGGTG 
CTCAAAGGCT ACGACTGGAC GCTGGTGCCC ATGCCGGTGC GCGTCAACGG CTCCAGCAAG 
AACAAGCCGC ACGTCAAGCG GCCCATGAAC GCCTTCATGG TGTGGGCGCA GGCGGCGCGC 
AGGAAGCTCG CGGACCAGTA CCCGCACTTG CACAACGCCG AGCTCAGCAA GACGCTGGGC 
AAGCTCTGGA GACTTCTGAA CGAGAGCGAG AAGCGGCCCT TCGTGGAGGA GGCGGAGCGG 
CTGCGCGTGC AGCACAAGAA GGACCACCCG GATTACAAGT ACCAGCCGCG GCGGAGGAAG 
TCGGTGAAGA ACGGGCAGGC GGAGGCAGAG GAGGCCACGG AGCAGACGCA CATCTCCCCC 
AACGCCATCT TCAAGGCGCT GCAGGCCGAC TCGCCACACT CCTCCTCCGG CATGAGCGAG 
GTGCACTCCC CCGGCGAGCA CTCGGGGCAA TCCCAGGGCC CACCGACCCC ACCCACCACC 
CCCAAAACCG ACGTGCAGCC GGGCAAGGCT GACCTGAAGC GAGAGGGGCG CCCCTTGCCA 
GAGGGGGGCA GACAGCCCCC TATCGACTTC CGCGACGTGG ACATCGGCGA GCTGAGCAGC 
GACGTCATCT CCAACATCGA GACCTTCGAT GTCAACGAGT TTGACCAGTA CCTGCCGCCC 
AACGGCCACC CGGGGGTGCC GGCCACGCAC GGCCAGGTCA CCTACACGGG CAGCTACGGC 
ATCAGCAGCA CCGCGGCCAC CCCGGCGAGC GCGGGCCACG TGTGGATGTC CAAGCAGCAG 
GCGCCGCCGC CACCCCCGCA GCAGCCCCCA CAGGCCCCGC CGGCCCCGCA GGCGCCCCCG 
CAGCCGCAGG CGGCGCCCCC ACAGCAGCCG GCGGCACCCC CGCAGCAGCC ACAGGCGCAC 
ACGCTGACCA CGCTGAGCAG CGAGCCGGGC CAGTCCCAGC GAACGCACAT CAAGACGGAG 
CAGCTGAGCC CCAGCCACTA CAGCGAGCAG CAGCAGCACT CGCCCCAACA GATCGCCTAC 
AGCCCCTTCA ACCTCCCACA CTACAGCCCC TCCTACCCGC CCATCACCCG CTCACAGTAC 
GACTACACCG ACCACCAGAA CTCCAGCTCC TACTACAGCC ACGCGGCAGG CCAGGGCACC 
GGCCTCTACT CCACCTTCAC CTACATGAAC CCCGCTCAGC GCCCCATGTA CACCCCCATC 
GCCGACACCT CTGGGGTCCC TTCCATCCCG CAGACCCACA GCCCCCAGCA CTGGGAACAA 
CCCGTCTACA CACAGCTCAC TCGACCTTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

PubMed

book

Role of Rho small GTPases in meniscus cells
J. Orthop. Res. 32 (11), 1479-1486 (2014)
Kanazawa T, Furumatsu T, Matsumoto-Ogawa E, Maehara A and Ozaki T.

book

Sox9 regulates hyperexpression of Wnt1 and Fzd1 in human osteosarcoma tissues and cells
Int J Clin Exp Pathol 7 (8), 4795-4805 (2014)
Liu H, Chen Y, Zhou F, Jie L, Pu L, Ju J, Li F, Dai Z, Wang X and Zhou S.

book

Sox9: a master regulator of the pancreatic program
Rev Diabet Stud 11 (1), 51-83 (2014)
Seymour PA.

book

Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal
Am. J. Hum. Genet. 57 (5), 1028-1036 (1995)
Kwok C, Weller PA, Guioli S, Foster JW, Mansour S, Zuffardi O, Punnett HH, Dominguez-Steglich MA, Brook JD, Young ID et al.

book

Acampomelic campomelic syndrome and sex reversal associated with de novo t(12;17) translocation
Am. J. Med. Genet. 56 (1), 31-34 (1995)
Ninomiya S, Narahara K, Tsuji K, Yokoyama Y, Ito S and Seino Y.

book

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9
Cell 79 (6), 1111-1120 (1994)
Wagner T, Wirth J, Meyer J, Zabel B, Held M, Zimmer J, Pasantes J, Bricarelli FD, Keutel J, Hustert E, Wolf U, Tommerup N, Schempp W and Scherer G.

book

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
Nature 372 (6506), 525-530 (1994)
Foster JW, Dominguez-Steglich MA, Guioli S, Kwok C, Weller PA, Stevanovic M, Weissenbach J, Mansour S, Young ID, Goodfellow PN et al.

book

Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1
Nat. Genet. 4 (2), 170-174 (1993)
Tommerup N, Schempp W, Meinecke P, Pedersen S, Bolund L, Brandt C, Goodpasture C, Guldberg P, Held KR, Reinwein H et al.

book

Campomelic Dysplasia
(in) Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Unger,S., Scherer,G. and Superti-Furga,A.

book

Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation
J. Med. Genet. 29 (4), 251-252 (1992)
Young ID, Zuccollo JM, Maltby EL and Broderick NJ.

 
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