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
Expression
All Expression Data
55 figures from 29 publications
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
7 figures from 3 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With phox2bb Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
congenital central hypoventilation syndrome Alliance Central hypoventilation syndrome, congenital, with or without Hirschsprung disease 209880
Neuroblastoma with Hirschsprung disease 613013
{Neuroblastoma, susceptibility to, 2} 613013
Associated With phox2bb Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR017970 Homeobox, conserved site
Domain IPR001356 Homeobox domain
Homologous_superfamily IPR009057 Homeobox-like domain superfamily
Domain Details Per Protein
Protein Length Homeobox, conserved site Homeobox domain Homeobox-like domain superfamily
UniProtKB:A0A0J9YJE3 206
UniProtKB:Q3T498 285
UniProtKB:Q5I7G4 284
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-phox2bb polyclonal Rabbit
  • IHC
2
Ab2-phox2bb polyclonal Guinea pig
1
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations