Gene
phox2ba
- ID
- ZDB-GENE-090313-51
- Name
- paired like homeobox 2Ba
- Symbol
- phox2ba Nomenclature History
- Previous Names
-
- si:ch211-157h5.5
- Type
- protein_coding_gene
- Location
- Chr: 1 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. Predicted to be involved in regulation of transcription, DNA-templated. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in congenital central hypoventilation syndrome. Orthologous to human PHOX2B (paired like homeobox 2B).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from MacLean et al., 2023
- 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 |
|---|---|---|---|
| congenital central hypoventilation syndrome | Alliance | Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | 209880 |
| Neuroblastoma with Hirschsprung disease | 613013 | ||
| {Neuroblastoma, susceptibility to, 2} | 613013 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Homedomain-like superfamily | Homeobox, conserved site | Homeodomain | Paired Homeobox Transcription Factors |
|---|---|---|---|---|---|
|
UniProtKB:B8A4X8
|
155 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
phox2ba-201
(1)
|
Ensembl | 872 nt |
Interactions and Pathways
No data available
Plasmids
No data available