NKX2-5

NKX2-5

A gene on chromosome 5q34 that encodes a homeobox transcription factor implicated in commitment to, and/or differentiation of, the myocardial lineage. It acts as a transcriptional activator of ANF in co-operation with GATA4.

Molecular pathology
NKX2-5 mutations cause atrial septal defect with atrioventricular conduction defect, tetralogy of Fallot, and congenital hypothyroidism non-goitrous type 5.
References in periodicals archive ?
One such interaction is with GATA4, a member of the GATA family zinc-finger TFs, which modifies the chromatin structure allowing other TFs such as NKX2-5 to bind to their targets and fully activate the cardiac transcriptional program [13].
The following 18 genes were identified from the whole genome expression profiles of spleen in GeneNetwork of female and male mice: Csf1r, FoxP3, Gata4, Ifnb1, Ifng, IL-10, IL-17a, IL-19, IL-20, IL-22, IL-22, IL-24, Nkx2-5, Tbx5, Tgfb1, Tgfb2, Tgfb3, and Tpr.
Rosica et al., "Missense mutation in the transcription factor NKX2-5: A novel molecular event in the pathogenesis of thyroid dysgenesis," The Journal of Clinical Endocrinology & Metabolism, vol.
After this first event, an increase in the expression of cardiac progenitor markers, such as ISL-1, and cardiac-associated transcription factors nKx2-5, MEF2-C, and GATA4, occurs.
Mutations in NKX2-5 (5q35.1), GATA4 (8q23.1), ZFPM2 (8q23.1), GATA6 (18q11.2), GDF1 (19p13.11), JAG1 (20p12.2), and TBX1 (22q11.21) have been reported in sporadic cases with tetralogy of Fallot; however, interaction of these genes and FMR1 gene has never been reported [49].
These mutants can decrease the transcription regulatory activity of GATA4 and reduce the synergistic activation between NKX2-5 and GATA4 (6).
Some studies have been reported that some genes, such as paired box transcription factor 8 (PAX8), thyroid transcription factor 1 (7TF1), thyroid transcription factor 2 (TTF2), NKX2-5, and TSHR, play important roles during thyroid morphogenesis (4).
Homeodomain factor Nkx2-5 controls left/right asymmetric expression of bHLH gene eHand during murine heart development.
Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease.
For analysis, we used 5-[micro]m sections and the following antibodies: GATA4 (Santa Cruz Biotechnology, Santa Cruz, CA), cardiomyocytes (MF20; Developmental Studies Hybridoma Bank at the University of Iowa, Iowa City, IA), keratin-18 (Thermo Scientific), AHR (Enzo Life Sciences Inc.), cardiac troponin T (Thermo Scientific), SHOX2 (Santa Cruz Biotechnology), and NKX2-5 (Santa Cruz Biotechnology).
(31) identified NKX2-5 as a novel gene involved in thyroidogenesis.