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

Expression

All Expression Data

65 figures from 35 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