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 enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Acts upstream of or within locus ceruleus development and noradrenergic neuron development. Predicted to be located in nucleus. Is expressed in several structures, including epibranchial field; hindbrain neural rod; midbrain hindbrain boundary neural keel; nervous system; and neural tube. Human ortholog(s) of this gene implicated in congenital fibrosis of the extraocular muscles 2. 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