Gene
nkx2.1
- ID
- ZDB-GENE-010404-1
- Name
- NK2 homeobox 1
- Symbol
- nkx2.1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 17 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 hypothalamus development. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in choreatic disease and thyroid gland papillary carcinoma. Is expressed in brain; head; swim bladder; and thyroid follicle. Orthologous to human NKX2-1 (NK2 homeobox 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 35 figures from 26 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| choreatic disease | Alliance | Chorea, hereditary benign | 118700 |
| papillary thyroid carcinoma | Alliance | {Thyroid cancer, nonmedullary, 1} | 188550 |
| Choreoathetosis, hypothyroidism, and neonatal respiratory distress | 610978 |
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:Q98TX4
|
346 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
nkx2.1-201
(1)
|
Ensembl | 1,808 nt |
Interactions and Pathways
No data available
Plasmids
No data available