Gene
nkx6.2
- ID
- ZDB-GENE-070626-1
- Name
- NK6 homeobox 2
- Symbol
- nkx6.2 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 13 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 pancreatic A cell differentiation; spinal cord motor neuron differentiation; and type B pancreatic cell differentiation. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in spastic ataxia 8. Is expressed in several structures, including central nervous system; endoderm; neural plate; neuroectoderm; and pancreatic system. Orthologous to human NKX6-2 (NK6 homeobox 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 21 figures from 11 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| spastic ataxia 8 | Alliance | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | 617560 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR000047 | Helix-turn-helix motif |
| Conserved_site | IPR017970 | Homeobox, conserved site |
| Domain | IPR001356 | Homeodomain |
| Domain | IPR020479 | Homeodomain, metazoa |
| Family | IPR050394 | Homeobox NK-like transcription regulators |
| Homologous_superfamily | IPR009057 | Homedomain-like superfamily |
Domain Details Per Protein
| Protein | Length | Helix-turn-helix motif | Homedomain-like superfamily | Homeobox, conserved site | Homeobox NK-like transcription regulators | Homeodomain | Homeodomain, metazoa |
|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A0R4IY89
|
278 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available