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Homo sapiens exostosin glycosyltransferase 2 (EXT2), transcript variant 2, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_207122 Homo sapiens exostosin glycosyltransferase 2 (EXT2), transcript variant 2, mRNA. GenEZ ORF Cloning In-stock $639.00 $590.00 15

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RefSeq Version NM_207122.1, 46370068
Length 3651 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens exostosin glycosyltransferase 2 (EXT2), transcript variant 2, mRNA.
Product exostosin-2 isoform 2
Comment

Summary: This gene encodes one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type II form of multiple exostoses. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008].


Transcript Variant: This variant (2) is the predominant transcript and differs in the 5' UTR and coding region, compared to variant 1. These differences causes translation initiation at a downstream start codon and result in isoform (2) which has a shorter N-terminus, compared to isoform 1.

RefSeq NP_997005.1
CDS 335..2491
Misc Feature(1)410..472
Misc Feature(2)410..472
Misc Feature(3)632..1474
Misc Feature(4)1700..2437
Exon (1)1..304
Gene:EXT2
Gene Synonym:SOTV
Exon (2)305..870
Gene:EXT2
Gene Synonym:SOTV
Exon (3)871..960
Gene:EXT2
Gene Synonym:SOTV
Exon (4)961..1077
Gene:EXT2
Gene Synonym:SOTV
Exon (5)1078..1273
Gene:EXT2
Gene Synonym:SOTV
Exon (6)1274..1413
Gene:EXT2
Gene Synonym:SOTV
Exon (7)1414..1507
Gene:EXT2
Gene Synonym:SOTV
Exon (8)1508..1639
Gene:EXT2
Gene Synonym:SOTV
Exon (9)1640..1829
Gene:EXT2
Gene Synonym:SOTV
Exon (10)1830..1996
Gene:EXT2
Gene Synonym:SOTV
Exon (11)1997..2140
Gene:EXT2
Gene Synonym:SOTV
Exon (12)2141..2269
Gene:EXT2
Gene Synonym:SOTV
Exon (13)2270..2352
Gene:EXT2
Gene Synonym:SOTV
Exon (14)2353..3634
Gene:EXT2
Gene Synonym:SOTV
Translation MCASVKYNIRGPALIPRMKTKHRIYYITLFSIVLLGLIATGMFQFWPHSIESSNDWNVEK RSIRDVPVVRLPADSPIPERGDLSCRMHTCFDVYRCGFNPKNKIKVYIYALKKYVDDFGV SVSNTISREYNELLMAISDSDYYTDDINRACLFVPSIDVLNQNTLRIKETAQAMAQLSRW DRGTNHLLFNMLPGGPPDYNTALDVPRDRALLAGGGFSTWTYRQGYDVSIPVYSPLSAEV DLPEKGPGPRQYFLLSSQVGLHPEYREDLEALQVKHGESVLVLDKCTNLSEGVLSVRKRC HKHQVFDYPQVLQEATFCVVLRGARLGQAVLSDVLQAGCVPVVIADSYILPFSEVLDWKR ASVVVPEEKMSDVYSILQSIPQRQIEEMQRQARWFWEAYFQSIKAIALATLQIINDRIYP YAAISYEEWNDPPAVKWGSVSNPLFLPLIPPQSQGFTAIVLTYDRVESLFRVITEVSKVP SLSKLLVVWNNQNKNPPEDSLWPKIRVPLKVVRTAENKLSNRFFPYDEIETEAVLAIDDD IIMLTSDELQFGYEVWREFPDRLVGYPGRLHLWDHEMNKWKYESEWTNEVSMVLTGAAFY HKYFNYLYTYKMPGDIKNWVDAHMNCEDIAMNFLVANVTGKAVIKVTPRKKFKCPECTAI DGLSLDQTHMVERSECINKFASVFGTMPLKVVEHRADPVLYKDDFPEKLKSFPNIGSL
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Position Chain Variation Link
4+dbSNP:
4+c, tdbSNP:10458911
24+c, tdbSNP:3923808
70+c, tdbSNP:184253329
125+a, gdbSNP:189113630
138+c, gdbSNP:78395259
187+a, gdbSNP:115238130
274+c, gdbSNP:12800404
342+c, tdbSNP:201185639
361+c, tdbSNP:149841763
362+a, cdbSNP:4755228
363+a, gdbSNP:146906186
430+c, tdbSNP:146474557
458+a, gdbSNP:4755779
466+a, gdbSNP:199574918
484+c, tdbSNP:138982530
516+a, gdbSNP:151228794
535+a, gdbSNP:201374853
539+a, gdbSNP:200809171
594+g, tdbSNP:140075817
598+a, gdbSNP:35455466
600+c, tdbSNP:143048174
618+a, gdbSNP:143703574
620+a, tdbSNP:112231770
630+a, tdbSNP:147587178
692+a, gdbSNP:115948531
716+c, tdbSNP:200613371
746+g, tdbSNP:200863207
757+c, tdbSNP:199916419
778+c, tdbSNP:145884580
808+a, tdbSNP:138452448
843+c, tdbSNP:113846849
846+a, cdbSNP:149621055
848+c, tdbSNP:121918279
853+c, gdbSNP:148121594
854+a, c, tdbSNP:111589746
922+dbSNP:
922+c, tdbSNP:200009614
979+dbSNP:
979+c, tdbSNP:111364140
990+c, tdbSNP:202208526
1000+c, gdbSNP:121918281
1001+c, tdbSNP:201062014
1003+g, tdbSNP:141410374
1013+a, gdbSNP:121918280
1032+a, gdbSNP:146316660
1044+c, tdbSNP:139525250
1062+c, gdbSNP:200032672
1082+dbSNP:
1082+c, tdbSNP:183424469
1106+c, tdbSNP:267606786
1113+g, tdbSNP:201895861
1118+c, tdbSNP:150687734
1166+a, gdbSNP:117329700
1177+a, gdbSNP:111320923
1178+a, gdbSNP:200144080
1184+a, gdbSNP:142827945
1193+a, cdbSNP:75060208
1223+c, tdbSNP:146098187
1230+a, gdbSNP:76901081
1252+a, gdbSNP:35436405
1253+a, gdbSNP:200631641
1299+dbSNP:
1299+a, gdbSNP:149727518
1307+c, tdbSNP:145611597
1312+, gdbSNP:34716631
1313+c, gdbSNP:200427972
1329+a, gdbSNP:148493676
1330+c, tdbSNP:142692757
1333+c, tdbSNP:61733300
1339+a, gdbSNP:141977888
1351+c, tdbSNP:11828047
1352+a, gdbSNP:147805922
1356+c, tdbSNP:141035971
1390+c, tdbSNP:150255775
1421+dbSNP:
1421+a, gdbSNP:138943091
1443+c, tdbSNP:199711832
1444+a, cdbSNP:34084767
1511+dbSNP:
1511+c, tdbSNP:145903120
1512+a, gdbSNP:138187791
1631..1632+, cdbSNP:140416849
1642+dbSNP:
1642+a, gdbSNP:142792087
1683+c, tdbSNP:184497530
1701+c, tdbSNP:201920622
1706+a, gdbSNP:146086025
1741+c, tdbSNP:148753786
1746+a, gdbSNP:141256266
1795+c, tdbSNP:150758739
1796+a, gdbSNP:139153420
1849+dbSNP:
1849+c, gdbSNP:145279140
1861+a, gdbSNP:145649534
1868+g, tdbSNP:147753803
1888+a, gdbSNP:144238557
1898+c, tdbSNP:145507609
1922+a, gdbSNP:148711133
1958..1959+, gdbSNP:34602012
1975+c, tdbSNP:75987184
1976+g, tdbSNP:1804679
1979+c, tdbSNP:142565472
2015+dbSNP:
2015+c, gdbSNP:151291188
2019+a, gdbSNP:140561784
2038+a, tdbSNP:145878394
2046+a, gdbSNP:150392363
2094+c, tdbSNP:138495222
2095+a, gdbSNP:16937864
2164+dbSNP:
2164+g, tdbSNP:35917945
2246+a, gdbSNP:145024832
2250+c, tdbSNP:138722406
2450+dbSNP:
2450+c, tdbSNP:1804677
2477+a, gdbSNP:199564714
2495+a, gdbSNP:200718123
2501+c, tdbSNP:150146973
2547+a, gdbSNP:77554103
2553+c, tdbSNP:138627468
2592+c, gdbSNP:117755165
2620+c, gdbSNP:141864253
2630+c, gdbSNP:191451519
2671+c, gdbSNP:184812009
2963+c, tdbSNP:74424177
3019+c, gdbSNP:1804678
3137+c, tdbSNP:189528648
3256+c, gdbSNP:59877575
3286+a, cdbSNP:76505631
3353+g, tdbSNP:192098481
Gene SymbolEXT2
Gene SynonymSOTV
Chromosome11
Locus Map11p12-p11
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000401 Homo sapiens exostosin glycosyltransferase 2 (EXT2), transcript variant 1, mRNA. On-demand $849.00 20
NM_001178083 Homo sapiens exostosin glycosyltransferase 2 (EXT2), transcript variant 3, mRNA. On-demand $849.00 20
NM_207122 Homo sapiens exostosin glycosyltransferase 2 (EXT2), transcript variant 2, mRNA. In-stock $639.00 $590.00 15
Title 20 novel point mutations and one large deletion in EXT1 and EXT2 genes: report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis .
Author Ciavarella,M., Coco,M., Baorda,F., Stanziale,P., Chetta,M., Bisceglia,L., Palumbo,P., Bengala,M., Raiteri,P., Silengo,M., Caldarini,C., Facchini,R., Lala,R., Cavaliere,M.L., De Brasi,D., Pasini,B., Zelante,L., Guarnieri,V. and D'Agruma,L.
Journal Gene 515 (2), 339-348 (2013)
Title Association between variants of EXT2 and type 2 diabetes: a replication and meta-analysis .
Author Liu,L., Yang,X., Wang,H., Cui,G., Xu,Y., Wang,P., Yuan,G., Wang,X., Ding,H. and Wang,D.W.
Journal Hum. Genet. 132 (2), 139-145 (2013)
Title Mutation screening of EXT genes in Chinese patients with multiple osteochondromas .
Author Kang,Z., Peng,F. and Ling,T.
Journal Gene 506 (2), 298-300 (2012)
Title Mutation analysis and prenatal diagnosis of EXT1 gene mutations in Chinese patients with multiple osteochondromas .
Author Zhu,H.Y., Hu,Y.L., Yang,Y., Wu,X., Zhu,R.F., Zhu,X.Y., Duan,H.L., Zhang,Y. and Zhou,J.Y.
Journal Chin. Med. J. 124 (19), 3054-3057 (2011)
Title Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses .
Author Philippe,C., Porter,D.E., Emerton,M.E., Wells,D.E., Simpson,A.H. and Monaco,A.P.
Journal Am. J. Hum. Genet. 61 (3), 520-528 (1997)
Title The structure of the human multiple exostoses 2 gene and characterization of homologs in mouse and Caenorhabditis elegans .
Author Clines,G.A., Ashley,J.A., Shah,S. and Lovett,M.
Journal Genome Res. 7 (4), 359-367 (1997)
Title Positional cloning of a gene involved in hereditary multiple exostoses .
Author Wuyts,W., Van Hul,W., Wauters,J., Nemtsova,M., Reyniers,E., Van Hul,E.V., De Boulle,K., de Vries,B.B., Hendrickx,J., Herrygers,I., Bossuyt,P., Balemans,W., Fransen,E., Vits,L., Coucke,P., Nowak,N.J., Shows,T.B., Mallet,L., van den Ouweland,A.M., McGaughran,J., Halley,D.J. and Willems,P.J.
Journal Hum. Mol. Genet. 5 (10), 1547-1557 (1996)
Title The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes .
Author Stickens,D., Clines,G., Burbee,D., Ramos,P., Thomas,S., Hogue,D., Hecht,J.T., Lovett,M. and Evans,G.A.
Journal Nat. Genet. 14 (1), 25-32 (1996)
Title Refinement of the multiple exostoses locus (EXT2) to a 3-cM interval on chromosome 11 .
Author Wuyts,W., Ramlakhan,S., Van Hul,W., Hecht,J.T., van den Ouweland,A.M., Raskind,W.H., Hofstede,F.C., Reyniers,E., Wells,D.E., de Vries,B. et al.
Journal Am. J. Hum. Genet. 57 (2), 382-387 (1995)
Title Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11 .
Author Wu,Y.Q., Heutink,P., de Vries,B.B., Sandkuijl,L.A., van den Ouweland,A.M., Niermeijer,M.F., Galjaard,H., Reyniers,E., Willems,P.J. and Halley,D.J.
Journal Hum. Mol. Genet. 3 (1), 167-171 (1994)


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