Automated description from the Alliance of Genome Resources (Release 7.4.0)
Enables several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and protein homodimerization activity. Involved in several processes, including cardiac muscle tissue development; regulation of gene expression; and regulation of heart contraction. Acts upstream of or within several processes, including circulatory system development; proepicardium development; and regulation of DNA-templated transcription. Located in cytoplasm and nucleus. Part of transcription regulator complex. Is expressed in several structures, including alimentary system; brain; branchial arch; heart; and hemolymphoid system. Used to study atrial heart septal defect 7; congenital heart disease; hypoplastic left heart syndrome; and tetralogy of Fallot. Human ortholog(s) of this gene implicated in aortic valve disease 2; atrioventricular block; congenital heart disease (multiple); and congenital nongoitrous hypothyroidism 5. Orthologous to human NKX2-5 (NK2 homeobox 5).
This site uses cookies.
Some cookies are essential for site operations and others help us analyze use and utility of our web site.
Please refer to our
privacy policy
for more information.