Gene
nkx2.5
- ID
- ZDB-GENE-980526-321
- Name
- NK2 homeobox 5
- Symbol
- nkx2.5 Nomenclature History
- Previous Names
-
- nk2.5
- nkx2-5
- sb:eu581
- tinman homeobox homolog
- zgc:111912
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Predicted to have DNA-binding transcription factor activity and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including circulatory system development; embryonic viscerocranium morphogenesis; and regulation of cardiac chamber formation. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in aortic valve disease 2; atrioventricular block; congenital heart disease (multiple); and congenital nongoitrous hypothyroidism 5. Is expressed in several structures, including cardiovascular system; digestive system; margin; mesoderm; and pharyngeal arch. Orthologous to human NKX2-5 (NK2 homeobox 5).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 249 figures from 178 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:111912 (16 images)
- eu581 (12 images)
Wild Type Expression Summary
- All Phenotype Data
- 34 figures from 12 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| atrial heart septal defect 7 | Alliance | Atrial septal defect 7, with or without AV conduction defects | 108900 |
| congenital nongoitrous hypothyroidism 5 | Alliance | Hypothyroidism, congenital nongoitrous, 5 | 225250 |
| double outlet right ventricle | Alliance | Conotruncal heart malformations, variable | 217095 |
| hypoplastic left heart syndrome | Alliance | Hypoplastic left heart syndrome 2 | 614435 |
| tetralogy of Fallot | Alliance | Tetralogy of Fallot | 187500 |
| ventricular septal defect | Alliance | Ventricular septal defect 3 | 614432 |
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:Q98872
|
314 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
nkx2.5-201
(1)
|
Ensembl | 1,657 nt |
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab2-nkx2.5 | polyclonal | IgG | Rabbit |
|
Thermo Fisher Scientific (Lab Vision)
|
2 |
Plasmids
No data available