Gene
nkx2.7
- ID
- ZDB-GENE-990415-179
- Name
- NK2 transcription factor related 7
- Symbol
- nkx2.7 Nomenclature History
- Previous Names
-
- nk2.7
- nkx2-7
- zgc:100762
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Acts upstream of or within heart development and regulation of cardiac chamber formation. Predicted to be active in nucleus. Is expressed in heart primordium; lateral plate mesoderm; and pharyngeal pouches 2-6. Human ortholog(s) of this gene implicated in familial atrial fibrillation and ventricular septal defect. Orthologous to human NKX2-6 (NK2 homeobox 6).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 10 figures from 8 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 15 figures from 4 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| double outlet right ventricle | Alliance | Conotruncal heart malformations | 217095 |
| double outlet right ventricle | Alliance | Persistent truncus arteriosus | 217095 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Homedomain-like superfamily | Homeobox, conserved site | Homeobox NK-like transcription regulators | Homeodomain | Homeodomain, metazoa |
|---|---|---|---|---|---|---|
|
UniProtKB:Q98873
|
269 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
nkx2.7-201
(1)
|
Ensembl | 1,176 nt |
Interactions and Pathways
No data available
Plasmids
No data available