NKX2-5 (NK2 Homeobox 5) is a Protein Coding gene. This gene encodes a homeobox-containing transcription factor. This transcription factor functions in heart formation and development. It belongs to the NK-2 homeobox family. NKX2-5 is a homeodomain-containing transcription factor implied in both heart and thyroid development. Diseases associated with NKX2-5 include Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects and Ventricular Septal Defect 3. Heterozygous mutations in NKX2-5 in both the human and mice result in congenital heart defects (CHDs). Numerous mutations in NKX2-5 have been reported in individuals with congenital heart disease (CHD). Mutations in this gene can also cause congenital hypothyroidism non-goitrous type 5, a non-autoimmune condition.