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 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 axonogenesis; enteric nervous system development; and sympathetic ganglion development. Predicted to be located in nucleus. Is expressed in digestive system; mesenchyme pectoral fin; nervous system; neuroepithelial cell; and presumptive enteric nervous system. Human ortholog(s) of this gene implicated in colorectal cancer; congenital central hypoventilation syndrome; and neuroblastoma. Orthologous to human PHOX2B (paired like homeobox 2B).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
62 figures from 32 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
9 figures from 4 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, 1, 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
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations