Nkx2-5 - NK2 homeobox 5

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; positive regulation of transcription by RNA polymerase II; and regulation of heart contraction. Acts upstream of or within several processes, including circulatory system development; hematopoietic or lymphoid organ development; and regulation of transcription by RNA polymerase II. 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). [provided by Alliance of Genome Resources, Apr 2022]