Human Gene NKX2-6 (ENST00000325017.4) from GENCODE V44
Description: Homo sapiens NK2 homeobox 6 (NKX2-6), mRNA. (from RefSeq NM_001136271) RefSeq Summary (NM_001136271): 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]. Gencode Transcript: ENST00000325017.4 Gencode Gene: ENSG00000180053.8 Transcript (Including UTRs) Position: hg38 chr8:23,701,740-23,706,756 Size: 5,017 Total Exon Count: 2 Strand: - Coding Region Position: hg38 chr8:23,702,451-23,706,598 Size: 4,148 Coding Exon Count: 2
ID:NKX26_HUMAN DESCRIPTION: RecName: Full=Homeobox protein Nkx-2.6; AltName: Full=Homeobox protein NK-2 homolog F; FUNCTION: In conjunction with NKX2-5, may play a role in both pharyngeal and cardiac embryonic development (By similarity). SUBCELLULAR LOCATION: Nucleus (Probable). DISEASE: Defects in NKX2-6 may be a cause of conotruncal heart malformations (CTHM) [MIM:217095]. CTHM defines 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. SIMILARITY: Belongs to the NK-2 homeobox family. SIMILARITY: Contains 1 homeobox DNA-binding domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on A6NCS4
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0003677 DNA binding GO:0003700 transcription factor activity, sequence-specific DNA binding GO:0043565 sequence-specific DNA binding
Biological Process: GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006357 regulation of transcription from RNA polymerase II promoter GO:0007275 multicellular organism development GO:0007507 heart development GO:0008284 positive regulation of cell proliferation GO:0021854 hypothalamus development GO:0030154 cell differentiation GO:0035050 embryonic heart tube development GO:0043066 negative regulation of apoptotic process GO:0043586 tongue development GO:0048565 digestive tract development GO:0055014 atrial cardiac muscle cell development GO:0055015 ventricular cardiac muscle cell development GO:0060037 pharyngeal system development GO:0060039 pericardium development
AB464642 - Synthetic construct DNA, clone: pF1KB8942, Homo sapiens NKX2-6 gene for NK2 transcription factor related, locus 6, without stop codon, in Flexi system.
US Server
