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Homo sapiens GATA binding protein 6 (GATA6), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_005257 Homo sapiens GATA binding protein 6 (GATA6), mRNA. GenEZ ORF Cloning On-demand $TBD TBD

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RefSeq Version NM_005257.4, 386268026
Length 3770 bp
Structure linear
Update Date 21-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens GATA binding protein 6 (GATA6), mRNA.
Product transcription factor GATA-6
Comment

Summary: This gene is a member of a small family of zinc finger transcription factors that play an important role in the regulation of cellular differentiation and organogenesis during vertebrate development. This gene is expressed during early embryogenesis and localizes to endo- and mesodermally derived cells during later embryogenesis and thereby plays an important role in gut, lung, and heart development. Mutations in this gene are associated with several congenital defects. [provided by RefSeq, Mar 2012].

RefSeq NP_005248.2
CDS 278..2065
Misc Feature(1)245..247
Misc Feature(2)245..247
Misc Feature(3)716..1420
Misc Feature(4)716..1420
Misc Feature(5)1079..1081
Misc Feature(6)1442..1594
Misc Feature(7)order(1445..1447,1454..1456,1508..1510,1517..1519)
Misc Feature(8)order(1472..1477,1481..1483,1508..1540,1589..1591)
Misc Feature(9)1604..1759
Misc Feature(10)order(1607..1609,1616..1618,1670..1672,1679..1681)
Misc Feature(11)order(1634..1639,1643..1645,1670..1702,1748..1750,
Exon (1)1..240
Gene:GATA6
Gene Synonym:GATA6
Exon (2)241..1412
Gene:GATA6
Gene Synonym:GATA6
Exon (3)1413..1579
Gene:GATA6
Gene Synonym:GATA6
Exon (4)1580..1705
Gene:GATA6
Gene Synonym:GATA6
Exon (5)1706..1793
Gene:GATA6
Gene Synonym:GATA6
Exon (6)1794..1897
Gene:GATA6
Gene Synonym:GATA6
Exon (7)1898..3770
Gene:GATA6
Gene Synonym:GATA6
Translation MALTDGGWCLPKRFGAAGADASDSRAFPAREPSTPPSPISSSSSSCSRGGERGPGGASNC GTPQLDTEAAAGPPARSLLLSSYASHPFGAPHGPSAPGVAGPGGNLSSWEDLLLFTDLDQ AATASKLLWSSRGAKLSPFAPEQPEEMYQTLAALSSQGPAAYDGAPGGFVHSAAAAAAAA AAASSPVYVPTTRVGSMLPGLPYHLQGSGSGPANHAGGAGAHPGWPQASADSPPYGSGGG AAGGGAAGPGGAGSAAAHVSARFPYSPSPPMANGAAREPGGYAAAGSGGAGGVSGGGSSL AAMGGREPQYSSLSAARPLNGTYHHHHHHHHHHPSPYSPYVGAPLTPAWPAGPFETPVLH SLQSRAGAPLPVPRGPSADLLEDLSESRECVNCGSIQTPLWRRDGTGHYLCNACGLYSKM NGLSRPLIKPQKRVPSSRRLGLSCANCHTTTTTLWRRNAEGEPVCNACGLYMKLHGVPRP LAMKKEGIQTRKRKPKNINKSKTCSGNSNNSIPMTPTSTSSNSDDCSKNTSPTTQPTASG AGAPVMTGAGESTNPENSELKYSGQDGLYIGVSLASPAEVTSSVRPDSWCALALA
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Position Chain Variation Link
163+dbSNP:
163+c, gdbSNP:111419728
293+a, gdbSNP:139750927
320+c, gdbSNP:116262672
327+c, gdbSNP:146853260
339+c, gdbSNP:139666654
430+g, tdbSNP:200519946
462..463+, tdbSNP:36041440
480+a, tdbSNP:200483324
759+c, tdbSNP:35248194
1128+c, gdbSNP:185325359
1256+a, cdbSNP:4299243
1304+a, gdbSNP:142601402
1589+dbSNP:
1589+c, tdbSNP:144512170
1597+a, tdbSNP:146624465
1627+a, gdbSNP:61731977
1651+c, tdbSNP:143026087
1652+a, gdbSNP:151176879
1803+dbSNP:
1803+a, gdbSNP:140212942
1844+c, tdbSNP:113144042
1849+c, tdbSNP:199684979
1879+a, gdbSNP:146949786
1882+a, gdbSNP:117646477
1911+dbSNP:
1911+g, tdbSNP:143584242
1940+c, gdbSNP:146243018
1949+a, gdbSNP:138641332
1982+c, tdbSNP:11545246
2000+c, gdbSNP:149569288
2002+c, tdbSNP:200788504
2008+c, gdbSNP:144224065
2026+c, tdbSNP:142079702
2031+g, tdbSNP:201707559
2106+c, tdbSNP:115585611
2137+c, tdbSNP:1941084
2142+c, tdbSNP:1941083
2163+c, tdbSNP:193273091
2294+c, tdbSNP:76974536
2390+a, gdbSNP:185025662
2391+a, tdbSNP:9965366
2627+a, gdbSNP:140220180
2691+g, tdbSNP:145348592
3036+g, tdbSNP:137914072
3102+a, gdbSNP:111636900
3240+c, tdbSNP:113511738
3265+c, gdbSNP:188999183
3266+c, tdbSNP:181762297
3290+a, gdbSNP:141065612
3358+c, tdbSNP:111924382
3366+a, tdbSNP:184146092
3578+c, tdbSNP:188721277
3632+, cdbSNP:35257471
3646+c, tdbSNP:111786565
3670+a, gdbSNP:138957832
3690+c, tdbSNP:80191140
3708+a, gdbSNP:180688081
3735+a, gdbSNP:186176517
Gene SymbolGATA6
Gene SynonymGATA6
Chromosome18
Locus Map18q11.1-q11.2
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_005257 Homo sapiens GATA binding protein 6 (GATA6), mRNA. On-demand TBD TBD
Title GATA-6 and NF-kappaB activate CPI-17 gene transcription and regulate Ca2+ sensitization of smooth muscle contraction .
Author Boopathi,E., Hypolite,J.A., Zderic,S.A., Gomes,C.M., Malkowicz,B., Liou,H.C., Wein,A.J. and Chacko,S.
Journal Mol. Cell. Biol. 33 (5), 1085-1102 (2013)
Title GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency .
Author De Franco,E., Shaw-Smith,C., Flanagan,S.E., Shepherd,M.H., Hattersley,A.T. and Ellard,S.
Journal Diabetes 62 (3), 993-997 (2013)
Title Novel GATA6 mutations associated with congenital ventricular septal defect or tetralogy of fallot .
Author Wang,J., Luo,X.J., Xin,Y.F., Liu,Y., Liu,Z.M., Wang,Q., Li,R.G., Fang,W.Y., Wang,X.Z. and Yang,Y.Q.
Journal DNA Cell Biol. 31 (11), 1610-1617 (2012)
Title Dominantly inherited diabetes mellitus caused by GATA6 haploinsufficiency: variable intrafamilial presentation .
Author Yorifuji,T., Kawakita,R., Hosokawa,Y., Fujimaru,R., Yamaguchi,E. and Tamagawa,N.
Journal J. Med. Genet. 49 (10), 642-643 (2012)
Title GATA6 inactivating mutations are associated with heart defects and, inconsistently, with pancreatic agenesis and diabetes .
Author Bonnefond,A., Sand,O., Guerin,B., Durand,E., De Graeve,F., Huyvaert,M., Rachdi,L., Kerr-Conte,J., Pattou,F., Vaxillaire,M., Polak,M., Scharfmann,R., Czernichow,P. and Froguel,P.
Journal Diabetologia 55 (10), 2845-2847 (2012)
Title A unique role of an amino terminal 16-residue region of long-type GATA-6 .
Author Takeda,M., Obayashi,K., Kobayashi,A. and Maeda,M.
Journal J. Biochem. 135 (5), 639-650 (2004)
Title Distinct functions are implicated for the GATA-4, -5, and -6 transcription factors in the regulation of intestine epithelial cell differentiation .
Author Gao,X., Sedgwick,T., Shi,Y.B. and Evans,T.
Journal Mol. Cell. Biol. 18 (5), 2901-2911 (1998)
Title GATA-6 DNA binding protein expressed in human gastric adenocarcinoma MKN45 cells .
Author Yoshida,T., Sato,R., Mahmood,S., Kawasaki,S., Futai,M. and Maeda,M.
Journal FEBS Lett. 414 (2), 333-337 (1997)
Title Molecular cloning of human GATA-6 DNA binding protein: high levels of expression in heart and gut .
Author Huggon,I.C., Davies,A., Gove,C., Moscoso,G., Moniz,C., Foss,Y., Farzaneh,F. and Towner,P.
Journal Biochim. Biophys. Acta 1353 (2), 98-102 (1997)
Title The human GATA-6 gene: structure, chromosomal location, and regulation of expression by tissue-specific and mitogen-responsive signals .
Author Suzuki,E., Evans,T., Lowry,J., Truong,L., Bell,D.W., Testa,J.R. and Walsh,K.
Journal Genomics 38 (3), 283-290 (1996)


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