Gene
phox2bb
- ID
- ZDB-GENE-050407-3
- Name
- paired like homeobox 2Bb
- Symbol
- phox2bb Nomenclature History
- Previous Names
-
- phox2b
- Type
- protein_coding_gene
- Location
- Chr: 14 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 enteric nervous system development and sympathetic ganglion development. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in congenital central hypoventilation syndrome. Is expressed in digestive system; nervous system; and presumptive enteric nervous system. Orthologous to human PHOX2B (paired like homeobox 2B).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 65 figures from 35 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 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:Q5I7G4
|
284 |
Type | Name | Annotation Method | Length (nt) | Analysis |
---|---|---|---|---|
mRNA |
phox2bb-201
(1)
|
Ensembl | 3956 nt | |
mRNA |
phox2bb-202
(1)
|
Havana | 2197 nt | |
mRNA |
phox2bb-203
(1)
|
Havana | 1004 nt |
Interactions and Pathways
No data available
Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
---|---|---|---|---|---|---|---|
Ab1-phox2bb | polyclonal | Rabbit |
|
2 | |||
Ab2-phox2bb | polyclonal | Guinea pig |
|
1 |
Plasmids
No data available