Gene
phox2a
- ID
- ZDB-GENE-000223-14
- Name
- paired like homeobox 2A
- Symbol
- phox2a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to have DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II regulatory region sequence-specific DNA binding activity. Involved in locus ceruleus development and noradrenergic neuron development. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in congenital fibrosis of the extraocular muscles. Is expressed in several structures, including epibranchial field; hindbrain neural rod; midbrain hindbrain boundary neural keel; nervous system; and neural tube. Orthologous to human PHOX2A (paired like homeobox 2A).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 37 figures from 22 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 |
|---|---|---|---|
| congenital fibrosis of the extraocular muscles 2 | Alliance | Fibrosis of extraocular muscles, congenital, 2 | 602078 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Homedomain-like superfamily | Homeobox, conserved site | Homeodomain | Paired Homeobox Transcription Factors |
|---|---|---|---|---|---|
|
UniProtKB:Q6NYV4
|
277 | ||||
|
UniProtKB:F1RCT9
|
280 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
phox2a-201
(1)
|
Ensembl | 3,891 nt |
Interactions and Pathways
No data available
Plasmids
No data available