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Homo sapiens Zic family member 3 (ZIC3), mRNA.


RefSeq Accession Definition Services Price Order
NM_003413 Homo sapiens Zic family member 3 (ZIC3), mRNA. ORF Sequence $407.16
Peptide Services
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RefSeq Version NM_003413.3, 194272159
Length 3939 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens Zic family member 3 (ZIC3), mRNA.
Product zinc finger protein ZIC 3
Comment

Summary: This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This nuclear protein probably functions as a transcription factor in early stages of left-right body axis formation. Mutations in this gene cause X-linked visceral heterotaxy, which includes congenital heart disease and left-right axis defects in organs. [provided by RefSeq, Jul 2008].


Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.

RefSeq NP_003404.1
CDS 506..1909
Misc Feature(1)236..238
Misc Feature(2)1394..1471
Misc Feature(3)1394..1471
Misc Feature(4)1448..1528
Misc Feature(5)1493..1561
Misc Feature(6)1535..1618
Misc Feature(7)1625..1702
Misc Feature(8)1670..1735
Exon (1)1..1565
Gene:ZIC3
Gene Synonym:HTX; HTX1; VACTERLX; ZNF203
Exon (2)1566..1729
Gene:ZIC3
Gene Synonym:HTX; HTX1; VACTERLX; ZNF203
Exon (3)1730..3939
Gene:ZIC3
Gene Synonym:HTX; HTX1; VACTERLX; ZNF203
Translation MTMLLDGGPQFPGLGVGSFGAPRHHEMPNREPAGMGLNPFGDSTHAAAAAAAAAAFKLSP AAAHDLSSGQSSAFTPQGSGYANALGHHHHHHHHHHHTSQVPSYGGAASAAFNSTREFLF RQRSSGLSEAASGGGQHGLFAGSASSLHAPAGIPEPPSYLLFPGLHEQGAGHPSPTGHVD NNQVHLGLRGELFGRADPYRPVASPRTDPYAAGAQFPNYSPMNMNMGVNVAAHHGPGAFF RYMRQPIKQELSCKWIDEAQLSRPKKSCDRTFSTMHELVTHVTMEHVGGPEQNNHVCYWE ECPREGKSFKAKYKLVNHIRVHTGEKPFPCPFPGCGKIFARSENLKIHKRTHTGEKPFKC EFEGCDRRFANSSDRKKHMHVHTSDKPYICKVCDKSYTHPSSLRKHMKVHESQGSDSSPA ASSGYESSTPPAIASANSKDTTKTPSAVQTSTSHNPGLPPNFNEWYV
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Position Chain Variation Link
171+dbSNP:
171+c, tdbSNP:181414932
554+g, tdbSNP:147232392
580+c, gdbSNP:61735157
603+c, tdbSNP:201398331
636+c, gdbSNP:78870836
667+c, tdbSNP:62637689
1112+a, gdbSNP:140823819
1144+a, cdbSNP:200655438
1154+c, gdbSNP:104894963
1231+c, tdbSNP:147483234
1250+c, tdbSNP:104894960
1262+a, tdbSNP:122463167
1263+c, gdbSNP:104894961
1268+g, tdbSNP:122463168
1303+a, gdbSNP:181042949
1309+a, cdbSNP:122462166
1337+c, tdbSNP:148567981
1366+a, gdbSNP:61735159
1370+a, gdbSNP:151121012
1417+a, gdbSNP:10126585
1473+c, tdbSNP:122462165
1516+a, gdbSNP:61735960
1699+dbSNP:
1699+g, tdbSNP:143990850
1718+a, gdbSNP:104894962
1859+dbSNP:
1859+a, cdbSNP:199708513
1905+c, tdbSNP:28753954
1950+a, gdbSNP:12387258
2169+c, tdbSNP:41299098
2175+c, tdbSNP:189945897
2398+a, gdbSNP:183286584
2405+c, gdbSNP:188158405
2486+c, tdbSNP:192686023
2545..2546+, gdbSNP:35271758
2557+a, tdbSNP:1053654
2692+a, gdbSNP:182699220
2908+a, cdbSNP:187801928
2931+a, gdbSNP:192578428
3049+g, tdbSNP:184391484
3098+a, gdbSNP:41300285
3220+c, tdbSNP:189095612
3238+a, tdbSNP:193001606
3385+a, gdbSNP:112250638
3449+a, gdbSNP:184855783
3555+c, tdbSNP:141562009
3740+a, gdbSNP:189739012
3866+g, tdbSNP:76159565
3933+c, gdbSNP:113057036
Gene SymbolZIC3
Gene SynonymHTX; HTX1; VACTERLX; ZNF203
ChromosomeX
Locus MapXq26.2
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_003413 Homo sapiens Zic family member 3 (ZIC3), mRNA. Full Length $1378.65
ORF Sequence $407.16
Title Mutations in ZIC3 and ACVR2B are a common cause of heterotaxy and associated cardiovascular anomalies .
Author Ma,L., Selamet Tierney,E.S., Lee,T., Lanzano,P. and Chung,W.K.
Journal Cardiol Young 22 (2), 194-201 (2012)
Title Disruption of GLI3-ZIC3 interaction in the cadmium-induced omphalocele chick model .
Author Doi,T., Puri,P., Bannigan,J. and Thompson,J.
Journal Pediatr. Surg. Int. 27 (2), 205-209 (2011)
Title Identification of a novel ZIC3 isoform and mutation screening in patients with heterotaxy and congenital heart disease .
Author Bedard,J.E., Haaning,A.M. and Ware,S.M.
Journal PLoS ONE 6 (8), E23755 (2011)
Title Functional and structural basis of the nuclear localization signal in the ZIC3 zinc finger domain .
Author Hatayama,M., Tomizawa,T., Sakai-Kato,K., Bouvagnet,P., Kose,S., Imamoto,N., Yokoyama,S., Utsunomiya-Tate,N., Mikoshiba,K., Kigawa,T. and Aruga,J.
Journal Hum. Mol. Genet. 17 (22), 3459-3473 (2008)
Title Characterization of the interactions of human ZIC3 mutants with GLI3 .
Author Zhu,L., Zhou,G., Poole,S. and Belmont,J.W.
Journal Hum. Mutat. 29 (1), 99-105 (2008)
Title Lack of association between ZIC2 and ZIC3 genes and the risk of neural tube defects (NTDs) in Hispanic populations .
Author Zhu,H., Junker,W.M., Finnell,R.H., Brown,S., Shaw,G.M., Lammer,E.J., Canfield,M. and Hendricks,K.
Journal Am. J. Med. Genet. A 116A (4), 414-415 (2003)
Title Physical and functional interactions between Zic and Gli proteins .
Author Koyabu,Y., Nakata,K., Mizugishi,K., Aruga,J. and Mikoshiba,K.
Journal J. Biol. Chem. 276 (10), 6889-6892 (2001)
Title A deletion encompassing Zic3 in bent tail, a mouse model for X-linked neural tube defects .
Author Klootwijk,R., Franke,B., van der Zee,C.E., de Boer,R.T., Wilms,W., Hol,F.A. and Mariman,E.C.
Journal Hum. Mol. Genet. 9 (11), 1615-1622 (2000)
Title X-linked situs abnormalities result from mutations in ZIC3 .
Author Gebbia,M., Ferrero,G.B., Pilia,G., Bassi,M.T., Aylsworth,A., Penman-Splitt,M., Bird,L.M., Bamforth,J.S., Burn,J., Schlessinger,D., Nelson,D.L. and Casey,B.
Journal Nat. Genet. 17 (3), 305-308 (1997)
Title Mapping a gene for familial situs abnormalities to human chromosome Xq24-q27.1 .
Author Casey,B., Devoto,M., Jones,K.L. and Ballabio,A.
Journal Nat. Genet. 5 (4), 403-407 (1993)

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