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Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA.


RefSeq Accession Definition Services Price Order
NM_000346 Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA. ORF Sequence $443.70
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RefSeq Version NM_000346.3, 182765453
Length 3963 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA.
Product transcription factor SOX-9
Comment

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].

RefSeq NP_000337.1
CDS 373..1902
Misc Feature(1)229..231
Misc Feature(2)433..657
Misc Feature(3)433..657
Misc Feature(4)682..894
Misc Feature(5)order(691..693,697..702,706..711,718..723,730..732,
Misc Feature(6)1003..1005
Exon (1)1..803
Gene:SOX9
Gene Synonym:CMD1; CMPD1; SRA1
Exon (2)804..1057
Gene:SOX9
Gene Synonym:CMD1; CMPD1; SRA1
Exon (3)1058..3935
Gene:SOX9
Gene Synonym:CMD1; CMPD1; SRA1
Translation MNLLDPFMKMTDEQEKGLSGAPSPTMSEDSAGSPCPSGSGSDTENTRPQENTFPKGEPDL KKESEEDKFPVCIREAVSQVLKGYDWTLVPMPVRVNGSSKNKPHVKRPMNAFMVWAQAAR RKLADQYPHLHNAELSKTLGKLWRLLNESEKRPFVEEAERLRVQHKKDHPDYKYQPRRRK SVKNGQAEAEEATEQTHISPNAIFKALQADSPHSSSGMSEVHSPGEHSGQSQGPPTPPTT PKTDVQPGKADLKREGRPLPEGGRQPPIDFRDVDIGELSSDVISNIETFDVNEFDQYLPP NGHPGVPATHGQVTYTGSYGISSTAATPASAGHVWMSKQQAPPPPPQQPPQAPPAPQAPP QPQAAPPQQPAAPPQQPQAHTLTTLSSEPGQSQRTHIKTEQLSPSHYSEQQQHSPQQIAY SPFNLPHYSPSYPPITRSQYDYTDHQNSSSYYSHAAGQGTGLYSTFTYMNPAQRPMYTPI ADTSGVPSIPQTHSPQHWEQPVYTQLTRP
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Position Chain Variation Link
182+dbSNP:
182+g, tdbSNP:184391511
183+c, tdbSNP:187245903
204+a, gdbSNP:115615437
217+a, tdbSNP:111264561
220+c, tdbSNP:113434276
229+a, tdbSNP:9906217
290+a, gdbSNP:116826102
300+a, cdbSNP:11555395
356+c, gdbSNP:201838871
433+a, gdbSNP:193920972
559+c, gdbSNP:149852681
599+a, cdbSNP:137853128
648+g, tdbSNP:139490970
659+a, gdbSNP:148407362
672+a, gdbSNP:142549685
813+dbSNP:
813+c, tdbSNP:200906477
834+c, gdbSNP:137853129
844+a, gdbSNP:137853130
865+c, tdbSNP:28940282
876+c, tdbSNP:146463314
879+c, tdbSNP:2229989
889+a, gdbSNP:104894647
891+a, gdbSNP:202115157
903+a, gdbSNP:144824678
940+c, gdbSNP:61740803
963+c, tdbSNP:146754673
981+c, tdbSNP:140368355
1000+a, gdbSNP:201541265
1133+dbSNP:
1133+g, tdbSNP:183824168
1156+c, gdbSNP:150378213
1157+g, tdbSNP:138685561
1189+c, gdbSNP:201477430
1230+a, cdbSNP:149355998
1286+c, gdbSNP:143697828
1292+c, gdbSNP:202028563
1302+c, tdbSNP:138423956
1348+g, tdbSNP:143983059
1351+a, gdbSNP:76093568
1359+c, gdbSNP:200484258
1363+a, gdbSNP:199887368
1462+c, gdbSNP:200658115
1463+a, c, tdbSNP:200133354
1465+g, tdbSNP:200168037
1485+c, tdbSNP:929651
1490+c, gdbSNP:112211472
1539+a, gdbSNP:147286621
1576+c, tdbSNP:12942952
1629+c, tdbSNP:139253700
1652+a, gdbSNP:201994187
1671+g, tdbSNP:141557610
1675+a, gdbSNP:202126529
1692+a, c, g, tdbSNP:80338688
1854+c, tdbSNP:189130850
1875+c, tdbSNP:139015010
1882+a, gdbSNP:149888060
1925+a, cdbSNP:1042667
1935+a, gdbSNP:182589071
2027..2029+, ttcdbSNP:201601287
2146+c, gdbSNP:147753223
2150+a, gdbSNP:141946815
2237+a, gdbSNP:145813713
2309+a, gdbSNP:9916712
2423+c, tdbSNP:8066204
2523..2524+, adbSNP:72491462
2712+c, gdbSNP:1042672
2713+a, gdbSNP:1042673
2828+c, tdbSNP:74999341
2831+a, cdbSNP:73354570
2901+c, tdbSNP:185467299
3070+, tdbSNP:55940649
3084+c, tdbSNP:79312359
3155..3156+, atgdbSNP:139942297
3208+a, tdbSNP:11555394
3211+a, tdbSNP:11555393
3411..3412+, tgdbSNP:143971728
3423+g, tdbSNP:113739085
3424+g, tdbSNP:77238880
3437+a, cdbSNP:199547126
3438+g, tdbSNP:62070123
3469+c, tdbSNP:140205038
3482+a, gdbSNP:1042678
3616+, adbSNP:35490076
3725+c, tdbSNP:150340278
3806+a, cdbSNP:11555392
3880..3881+, tdbSNP:11448561
3880+, tdbSNP:35909615
3881+c, tdbSNP:181505150
Gene SymbolSOX9
Gene SynonymCMD1; CMPD1; SRA1
Chromosome17
Locus Map17q23
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_000346 Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA. Full Length $1387.05
ORF Sequence $443.70
Title Sox9 drives columnar differentiation of esophageal squamous epithelium: a possible role in the pathogenesis of Barrett's esophagus .
Author Clemons,N.J., Wang,D.H., Croagh,D., Tikoo,A., Fennell,C.M., Murone,C., Scott,A.M., Watkins,D.N. and Phillips,W.A.
Journal Am. J. Physiol. Gastrointest. Liver Physiol. 303 (12), G1335-G1346 (2012)
Title MicroRNA-101 suppresses SOX9-dependent tumorigenicity and promotes favorable prognosis of human hepatocellular carcinoma .
Author Zhang,Y., Guo,X., Xiong,L., Kong,X., Xu,Y., Liu,C., Zou,L., Li,Z., Zhao,J. and Lin,N.
Journal FEBS Lett. 586 (24), 4362-4370 (2012)
Title The extent of degeneration of cruciate ligament is associated with chondrogenic differentiation in patients with osteoarthritis of the knee .
Author Kumagai,K., Sakai,K., Kusayama,Y., Akamatsu,Y., Sakamaki,K., Morita,S., Sasaki,T., Saito,T. and Sakai,T.
Journal Osteoarthr. Cartil. 20 (11), 1258-1267 (2012)
Title SOX9 gene plus heparinized TGF-beta 3 coated dexamethasone loaded .
Author Park,J.S., Yang,H.N., Woo,D.G., Jeon,S.Y. and Park,K.H.
Journal Biomaterials 33 (29), 7151-7163 (2012)
Title Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal .
Author Kwok,C., Weller,P.A., Guioli,S., Foster,J.W., Mansour,S., Zuffardi,O., Punnett,H.H., Dominguez-Steglich,M.A., Brook,J.D., Young,I.D. et al.
Journal Am. J. Hum. Genet. 57 (5), 1028-1036 (1995)
Title Acampomelic campomelic syndrome and sex reversal associated with de novo t(12;17) translocation .
Author Ninomiya,S., Narahara,K., Tsuji,K., Yokoyama,Y., Ito,S. and Seino,Y.
Journal Am. J. Med. Genet. 56 (1), 31-34 (1995)
Title Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9 .
Author Wagner,T., Wirth,J., Meyer,J., Zabel,B., Held,M., Zimmer,J., Pasantes,J., Bricarelli,F.D., Keutel,J., Hustert,E., Wolf,U., Tommerup,N., Schempp,W. and Scherer,G.
Journal Cell 79 (6), 1111-1120 (1994)
Title Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene .
Author Foster,J.W., Dominguez-Steglich,M.A., Guioli,S., Kwok,C., Weller,P.A., Stevanovic,M., Weissenbach,J., Mansour,S., Young,I.D., Goodfellow,P.N. et al.
Journal Nature 372 (6506), 525-530 (1994)
Title Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1 .
Author Tommerup,N., Schempp,W., Meinecke,P., Pedersen,S., Bolund,L., Brandt,C., Goodpasture,C., Guldberg,P., Held,K.R., Reinwein,H. et al.
Journal Nat. Genet. 4 (2), 170-174 (1993)
Title Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation .
Author Young,I.D., Zuccollo,J.M., Maltby,E.L. and Broderick,N.J.
Journal J. Med. Genet. 29 (4), 251-252 (1992)

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