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 transcription regulatory region sequence-specific DNA binding activity. Involved in enteric nervous system development and sympathetic ganglion development. Predicted to localize to nuclear chromatin. Is expressed in digestive system; nervous system; and presumptive enteric nervous system. 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
- 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 | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
phox2bb-201
(1)
|
Ensembl | 3,956 nt | ||
mRNA |
phox2bb-202
(1)
|
Ensembl | 2,197 nt | ||
mRNA |
phox2bb-203
(1)
|
Ensembl | 1,004 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