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

68 figures from 36 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

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	Homeodomain
Family	IPR050649	Paired Homeobox Transcription Factors
Homologous_superfamily	IPR009057	Homedomain-like superfamily

Domain Details Per Protein

Protein	Length	Homedomain-like superfamily	Homeobox, conserved site	Homeodomain	Paired Homeobox Transcription Factors
UniProtKB:Q5I7G4 InterPro	284

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	phox2bb-201 (1) Ensembl	Ensembl	3,956 nt	Select Tool ZFIN BLAST
mRNA	phox2bb-202 (1) Ensembl	Ensembl	2,197 nt	Select Tool ZFIN BLAST
mRNA	phox2bb-203 (1) Ensembl	Ensembl	1,004 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

Name	Type	Antigen Genes	Isotype	Host Organism	Assay	Source	Citations
Ab1-phox2bb	polyclonal	phox2bb		Rabbit	IHC		2
Ab2-phox2bb	polyclonal	phox2bb		Guinea pig			1

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations