AC T04323
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ID T04323
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DT 13.02.2001 (created); rio.
DT 18.02.2015 (updated); smt.
CO Copyright (C), QIAGEN.
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FA CSX
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SY cardiac-specific homeobox protein; Csx; Nkx-2.5; NKX2-5; Nkx2.5.
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OS human, Homo sapiens
OC eukaryota; animalia; metazoa; chordata; vertebrata; tetrapoda; mammalia; eutheria; primates
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GE G002236 NKX2-5; HGNC: NKX2-5.
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HO tinman T03612 (Drosophila).
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CL C0006; homeo; 3.1.2.17.2.
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SF chromosomal location is closely linked to MSX2 T02075 [3];
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FF role in morphogenesis and maturation of atrial and conductions tissue [1];
FF atrial, ventricular and conotruncal septation, atrioventricular valve formation [2];
FF mutations cause nonsyndromic, congenital heart diseases like cardiac malformations, atrial septal defects (ASD), atrioventricular conduction block ventricular septal defects (VSD) and tricuspid valve abnormalities (including Epstein's anomaly) [1] [2];
FF CSX and Gata-4 T02687synergistically transactivate the rat ANP promoter [4];
FF CSX binding sites, but not Gata sites, are required for CSX-Gata-4 positive cooperation [4];
FF Nkx2.5 and Gata-4 exhibit negative cooperation on Gata-4 dependent promoters such as human IL-5 gene or the artificial promoter containing multimerized Gata sites and these two factors exhibit positive cooperation on Nkx-2.5 dependent promoters [4];
FF EMSA revealed that the binding activity of Nkx2.5 was not affected by Gata4 [4];
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IN T02687 GATA-4; human, Homo sapiens.
IN T04345 TBX5-L; human, Homo sapiens.
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MX M00240 V$NKX25_01.
MX M00241 V$NKX25_02.
MX M01414 V$NKX25_03.
MX M01043 V$NKX25_Q5.
MX M02108 V$NKX25_Q6.
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BS R15869.
BS R32430.
BS R27151.
BS R15769.
BS R15799.
BS R15864.
BS R15862.
BS R37575.
BS R37574.
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DR TRANSPATH: MO000028181.
DR TRANSCOMPEL: C00489.
DR UniProtKB: P52952;
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RN [1]; RE0015751.
RX PUBMED: 9651244.
RA Schott J. J., Benson D. W., Basson C. T., Pease W., Silberbach G.M., Moak J. P., Maron B. J., Seidman C. E., Seidman J. G.
RT Congenital heart disease caused by mutations in the transcription factor NKX2-5
RL Science 281:108-111 (1998).
RN [2]; RE0015752.
RX PUBMED: 10587520.
RA Benson D. W., Silberbach G. M., Kavanaugh-McHugh A., Cottrill C., Zhang Y., Riggs S., Smalls O., Johnson M. C., Watson M. S., Seidman J. G., Seidman C. E., Plowden J., Kugler J. D.
RT Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways
RL J. Clin. Invest. 104:1567-1573 (1999).
RN [3]; RE0015754.
RX PUBMED: 7665173.
RA Shiojima I., Komuro I., Inazawa J., Nakahori Y., Matsushita I., Abe T., Nagai R., Yazaki Y.
RT Assignment of cardiac homeobox gene CSX to human chromosome 5q34
RL Genomics 27:204-206 (1995).
RN [4]; RE0025189.
RX PUBMED: 10075728.
RA Shiojima I., Komuro I., Oka T., Hiroi Y., Mizuno T., Takimoto E., Monzen K., Aikawa R., Akazawa H., Yamazaki T., Kudoh S., Yazaki Y.
RT Context-dependent transcriptional cooperation mediated by cardiac transcription factors Csx/Nkx-2.5 and GATA-4.
RL J. Biol. Chem. 274:8231-8239 (1999).
RN [5]; RE0064744.
RX PUBMED: 18096723.
RA Freund C., Ward-van Oostwaard D., Monshouwer-Kloots J., van den Brink S., van Rooijen M., Xu X., Zweigerdt R., Mummery C., Passier R.
RT Insulin redirects differentiation from cardiogenic mesoderm and endoderm to neuroectoderm in differentiating human embryonic stem cells.
RL Stem Cells 26:724-733 (2008).
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