NKX2-6 gene

NK2 homeobox 6

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a homeobox-containing protein that belongs to the NK-2 homeobox family. This protein is a vertebrate homolog of Drosophila homeobox-containing protein called 'tinman', which has been shown to be essential for development of the heart-like dorsal vessel. In conjunction with related gene, NKX2-5, this gene may play a role in both pharyngeal and cardiac embryonic development. Mutations in this gene are associated with persistent truncus arteriosus.[provided by RefSeq, Aug 2011]

From UniProt:

Acts as a transcriptional activator (PubMed:15649947). In conjunction with NKX2-5, may play a role in both pharyngeal and cardiac embryonic development.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Conotruncal heart malformations

From UniProt:

Conotruncal heart malformations (CTHM): A group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle. [MIM:217095]

Cytogenetic Location: 8p21.2, which is the short (p) arm of chromosome 8 at position 21.2

Molecular Location: base pairs 23,702,451 to 23,706,598 on chromosome 8 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 8p21.2, which is the short (p) arm of chromosome 8 at position 21.2
  • CSX2
  • CTHM
  • NKX2F
  • NKX4-2