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, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in hypothalamus development. Predicted to localize to nucleus. Is expressed in brain; head; swim bladder; and thyroid follicle. Human ortholog(s) of this gene implicated in choreatic disease and thyroid gland papillary carcinoma. Orthologous to human NKX2-1 (NK2 homeobox 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 29 figures from 23 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