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Homo sapiens GATA binding protein 3 (GATA3), transcript variant 2, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_002051 Homo sapiens GATA binding protein 3 (GATA3), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $699.00 18

*Business Day

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RefSeq Version NM_002051.2, 50541957
Length 3067 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens GATA binding protein 3 (GATA3), transcript variant 2, mRNA.
Product trans-acting T-cell-specific transcription factor GATA-3 isoform 2
Comment

Summary: This gene encodes a protein which belongs to the GATA family of transcription factors. The protein contains two GATA-type zinc fingers and is an important regulator of T-cell development and plays an important role in endothelial cell biology. Defects in this gene are the cause of hypoparathyroidism with sensorineural deafness and renal dysplasia. [provided by RefSeq, Nov 2009].


Transcript Variant: This variant (2) uses an alternate in-frame splice site in the mid-coding region, compared to variant 1, resulting in an isoform (2) that is 1 aa shorter than isoform 1.

RefSeq NP_002042.1
CDS 558..1889
Misc Feature(1)375..377
Misc Feature(2)900..902
Misc Feature(3)900..902
Misc Feature(4)1041..1043
Misc Feature(5)1341..1493
Misc Feature(6)order(1344..1346,1353..1355,1407..1409,1416..1418)
Misc Feature(7)order(1371..1376,1380..1382,1407..1439,1488..1490)
Misc Feature(8)1503..1655
Misc Feature(9)order(1506..1508,1515..1517,1569..1571,1578..1580)
Misc Feature(10)order(1533..1538,1542..1544,1569..1601,1647..1649,
Exon (1)1..188
Gene:GATA3
Gene Synonym:HDR; HDRS
Exon (2)189..798
Gene:GATA3
Gene Synonym:HDR; HDRS
Exon (3)799..1335
Gene:GATA3
Gene Synonym:HDR; HDRS
Exon (4)1336..1478
Gene:GATA3
Gene Synonym:HDR; HDRS
Exon (5)1479..1604
Gene:GATA3
Gene Synonym:HDR; HDRS
Exon (6)1605..3067
Gene:GATA3
Gene Synonym:HDR; HDRS
Translation MEVTADQPRWVSHHHPAVLNGQHPDTHHPGLSHSYMDAAQYPLPEEVDVLFNIDGQGNHV PPYYGNSVRATVQRYPPTHHGSQVCRPPLLHGSLPWLDGGKALGSHHTASPWNLSPFSKT SIHHGSPGPLSVYPPASSSSLSGGHASPHLFTFPPTPPKDVSPDPSLSTPGSAGSARQDE KECLKYQVPLPDSMKLESSHSRGSMTALGGASSSTHHPITTYPPYVPEYSSGLFPPSSLL GGSPTGFGCKSRPKARSSTGRECVNCGATSTPLWRRDGTGHYLCNACGLYHKMNGQNRPL IKPKRRLSAARRAGTSCANCQTTTTTLWRRNANGDPVCNACGLYYKLHNINRPLTMKKEG IQTRNRKMSSKSKKCKKVHDSLEDFPKNSSFNPAALSRHMSSLSHISPFSHSSHMLTTPT PMHPPSSLSFGPHHPSSMVTAMG
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Position Chain Variation Link
41..42+dbSNP:
41..42+, aadbSNP:67829314
56..57+, a, aadbSNP:60098638
69..70+, gadbSNP:142178492
158+a, cdbSNP:185796020
199+dbSNP:
199+a, gdbSNP:138512915
207+c, tdbSNP:34628951
294+g, tdbSNP:35971003
307+a, gdbSNP:10905277
421+a, cdbSNP:11567885
442+g, tdbSNP:76250826
451+a, cdbSNP:11567886
489+a, gdbSNP:28395794
498+c, tdbSNP:11567887
500+c, tdbSNP:412359
509+c, tdbSNP:11567942
518+a, gdbSNP:201178566
529+c, tdbSNP:11540807
626+c, tdbSNP:138345596
629+a, gdbSNP:202168967
639+a, cdbSNP:202045701
831+dbSNP:
831+a, gdbSNP:142732425
851+c, tdbSNP:144221016
868..869+, cdbSNP:145573634
871+c, gdbSNP:78752986
874+a, cdbSNP:141062682
887+c, tdbSNP:111978415
888+c, gdbSNP:200765508
932+c, tdbSNP:142451494
960+c, tdbSNP:150906764
980..981+, gdbSNP:36100495
983+a, gdbSNP:200317918
1037+c, g, tdbSNP:143627754
1045+c, tdbSNP:201023943
1081+c, tdbSNP:34363744
1083+a, gdbSNP:201730759
1084+c, tdbSNP:145577748
1118+a, gdbSNP:191214710
1130+c, tdbSNP:35508267
1163+c, tdbSNP:2228254
1177+a, cdbSNP:1778076
1178+c, tdbSNP:2229359
1196+a, gdbSNP:145459484
1259+c, tdbSNP:199565632
1263+c, tdbSNP:148835259
1265+c, tdbSNP:143582578
1281+a, gdbSNP:11567901
1287+c, gdbSNP:140982061
1307+a, gdbSNP:2228255
1377+dbSNP:
1377+a, tdbSNP:104894163
1379+a, gdbSNP:185672882
1383+c, tdbSNP:104894162
1394+c, gdbSNP:144796042
1403+c, tdbSNP:138698611
1424+a, gdbSNP:575091
1451+a, gdbSNP:200802269
1502+dbSNP:
1502+a, gdbSNP:12572959
1511+a, gdbSNP:142846560
1586+c, tdbSNP:104886017
1613+a, tdbSNP:104894165
1622+g, tdbSNP:201916439
1653+c, tdbSNP:104894164
1727+a, gdbSNP:150229374
1733+c, tdbSNP:138679257
1739+c, tdbSNP:149351039
1740+a, gdbSNP:200935603
1778+a, gdbSNP:144824106
1799+c, tdbSNP:200043087
1803+c, gdbSNP:35011589
1811+a, gdbSNP:11567941
1829+a, gdbSNP:182422967
1839+c, tdbSNP:201681929
1911+a, gdbSNP:199951165
1915+c, gdbSNP:200946839
1982+c, tdbSNP:2229360
2032..2033+, tdbSNP:35940385
2144..2145+, adbSNP:111516061
2144..2145+, t, ttdbSNP:3839918
2145..2146+, a, aadbSNP:66586643
2154..2155+, a, tdbSNP:58582188
2154+a, tdbSNP:112619514
2195+g, tdbSNP:12782127
2249+a, tdbSNP:11128
2272+g, tdbSNP:116910852
2345+a, gdbSNP:114528004
2380+a, gdbSNP:138815232
2395..2396+, adbSNP:201109271
2395+a, gdbSNP:201958150
2406+a, gdbSNP:9746
2487+a, gdbSNP:187150410
2501+a, gdbSNP:1058240
2553+c, tdbSNP:192494656
2555+c, tdbSNP:11540806
2590+c, tdbSNP:11540805
2677+a, gdbSNP:34808803
2876+g, tdbSNP:183890714
2881+a, tdbSNP:188497571
2906..2907+, cdbSNP:35075089
2955+c, tdbSNP:11255509
2969..2970+, cdbSNP:34352039
Gene SymbolGATA3
Gene SynonymHDR; HDRS
Chromosome10
Locus Map10p15
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001002295 Homo sapiens GATA binding protein 3 (GATA3), transcript variant 1, mRNA. On-demand $699.00 18
NM_002051 Homo sapiens GATA binding protein 3 (GATA3), transcript variant 2, mRNA. On-demand $699.00 18
Title GATA3 suppresses metastasis and modulates the tumour microenvironment by regulating microRNA-29b expression .
Author Chou,J., Lin,J.H., Brenot,A., Kim,J.W., Provot,S. and Werb,Z.
Journal Nat. Cell Biol. 15 (2), 201-213 (2013)
Title Impaired proteasome function activates GATA3 in T cells and upregulates CTLA-4: relevance for Sezary syndrome .
Author Gibson,H.M., Mishra,A., Chan,D.V., Hake,T.S., Porcu,P. and Wong,H.K.
Journal J. Invest. Dermatol. 133 (1), 249-257 (2013)
Title TFE2 and GATA3 enhance induction of POU4F3 and myosin VIIa positive cells in nonsensory cochlear epithelium by ATOH1 .
Author Masuda,M., Pak,K., Chavez,E. and Ryan,A.F.
Journal Dev. Biol. 372 (1), 68-80 (2012)
Title The transcription factor GATA3 is essential for the function of human type 2 innate lymphoid cells .
Author Mjosberg,J., Bernink,J., Golebski,K., Karrich,J.J., Peters,C.P., Blom,B., te Velde,A.A., Fokkens,W.J., van Drunen,C.M. and Spits,H.
Journal Immunity 37 (4), 649-659 (2012)
Title Utility of GATA3 immunohistochemistry in differentiating urothelial carcinoma from prostate adenocarcinoma and squamous cell carcinomas of the uterine cervix, anus, and lung .
Author Chang,A., Amin,A., Gabrielson,E., Illei,P., Roden,R.B., Sharma,R. and Epstein,J.I.
Journal Am. J. Surg. Pathol. 36 (10), 1472-1476 (2012)
Title Activation of the interleukin-5 promoter by cAMP in murine EL-4 cells requires the GATA-3 and CLE0 elements .
Author Siegel,M.D., Zhang,D.H., Ray,P. and Ray,A.
Journal J. Biol. Chem. 270 (41), 24548-24555 (1995)
Title The human enhancer-binding protein Gata3 binds to several T-cell receptor regulatory elements .
Author Marine,J. and Winoto,A.
Journal Proc. Natl. Acad. Sci. U.S.A. 88 (16), 7284-7288 (1991)
Title A T-cell specific TCR delta DNA binding protein is a member of the human GATA family .
Author Joulin,V., Bories,D., Eleouet,J.F., Labastie,M.C., Chretien,S., Mattei,M.G. and Romeo,P.H.
Journal EMBO J. 10 (7), 1809-1816 (1991)
Title Murine and human T-lymphocyte GATA-3 factors mediate transcription through a cis-regulatory element within the human T-cell receptor delta gene enhancer .
Author Ko,L.J., Yamamoto,M., Leonard,M.W., George,K.M., Ting,P. and Engel,J.D.
Journal Mol. Cell. Biol. 11 (5), 2778-2784 (1991)
Title Human GATA-3: a lineage-restricted transcription factor that regulates the expression of the T cell receptor alpha gene .
Author Ho,I.C., Vorhees,P., Marin,N., Oakley,B.K., Tsai,S.F., Orkin,S.H. and Leiden,J.M.
Journal EMBO J. 10 (5), 1187-1192 (1991)


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