Gene

phox2ba

ID

ZDB-GENE-090313-51

Name

paired like homeobox 2Ba

Symbol

phox2ba Nomenclature History

Previous Names

si:ch211-157h5.5

Type

protein_coding_gene

Location

Chr: 1 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. Predicted to be involved in enteric nervous system development and regulation of transcription by RNA polymerase II. Predicted to localize to nuclear chromatin. 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

Expression

All Expression Data

1 figure from MacLean et al., 2023

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: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With phox2ba 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 phox2ba 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