NKX2-6 Gene
NK2 Homeobox 6
Gene Information Card
| Symbol | NKX2-6 |
|---|---|
| Full Name | NK2 Homeobox 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 8p21.2 |
| NCBI Gene ID | 137814 ncbi.nlm.nih.gov/gene/137814 |
| Ensembl ID | ENSG00000181023 |
| UniProt ID | Q9NYU0 |
| OMIM ID | 606180 |
| HGNC ID | 14044 |
| Aliases | NKX2.6, NKX2G, CSX3 |
Description
NKX2-6 encodes a homeobox-containing transcription factor belonging to the NK-2 family. It is essential for cardiac development, particularly in the formation of the outflow tract and pharyngeal arch arteries. Mutations in NKX2-6 are associated with congenital heart defects, including persistent truncus arteriosus.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Persistent Truncus Arteriosus | Loss-of-function mutations impair cardiac outflow tract septation, leading to a single common trunk | PMID: 16963494, ClinVar |
| Conotruncal Heart Malformations | Disruption of NKX2-6 transcriptional activity affects neural crest cell migration and cardiac morphogenesis | OMIM #606180 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 0.0 | Not detected |
| Lung | 0.0 | Not detected |
| Brain | 0.0 | Not detected |
| Liver | 0.0 | Not detected |
| Kidney | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.0 | Not expressed |
| K-562 | 0.0 | Not expressed |
| HUVEC | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.266A>G (p.Tyr89Cys) | Missense | Rare | Reduced DNA-binding affinity; associated with persistent truncus arteriosus |
| c.1A>G (p.Met1Val) | Missense | Rare | Loss of start codon; likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Tyr89Cys) reduce or abolish DNA-binding and transcriptional activation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cardiac progenitor differentiation
• Neural crest cell migration in cardiac development
Protein Summary
NKX2-6 is a 239-amino acid homeodomain transcription factor that binds DNA via a conserved NK2-specific homeodomain. It regulates genes involved in cardiac outflow tract septation and pharyngeal arch artery development. The protein is predominantly expressed during embryonic development, with very low or absent expression in adult tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| No Data | ||||
