Phox2b paired-like homeobox 2b [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Phox2bprovided by MGI
Official Full Name: paired-like homeobox 2bprovided by MGI
Primary source: MGI:MGI:1100882
See related: Ensembl:ENSMUSG00000012520 AllianceGenome:MGI:1100882
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Px2b; Dilp1; Pmx2b; NBPhox
Summary: Enables DNA-binding transcription activator activity, RNA polymerase II-specific and sequence-specific double-stranded DNA binding activity. Involved in several processes, including nervous system development; positive regulation of cold-induced thermogenesis; and regulation of respiratory gaseous exchange by nervous system process. Acts upstream of or within several processes, including negative regulation of type B pancreatic cell proliferation; nervous system development; and regulation of neuron differentiation. Located in nucleus. Is expressed in several structures, including adrenal gland; epibranchial placode; genitourinary system; gut; and nervous system. Used to study congenital central hypoventilation syndrome. Human ortholog(s) of this gene implicated in colorectal cancer; congenital central hypoventilation syndrome; and neuroblastoma. Orthologous to human PHOX2B (paired like homeobox 2B). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in adrenal adult (RPKM 7.4), whole brain E14.5 (RPKM 3.2) and 9 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 C3.1; 5 35.95 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (67251751..67256399, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (67094397..67099126, complement)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phox2b-expressing neurons contribute to breathing problems in Kcnq2 loss- and gain-of-function encephalopathy models.
Title: Phox2b-expressing neurons contribute to breathing problems in Kcnq2 loss- and gain-of-function encephalopathy models.
The Molecular Circadian Clock of Phox2b-expressing Cells Drives Daily Variation of the Hypoxic but Not Hypercapnic Ventilatory Response in Mice.
Title: The Molecular Circadian Clock of Phox2b-expressing Cells Drives Daily Variation of the Hypoxic but Not Hypercapnic Ventilatory Response in Mice.
Phox2b mutation mediated by Atoh1 expression impaired respiratory rhythm and ventilatory responses to hypoxia and hypercapnia.
Title: Phox2b mutation mediated by Atoh1 expression impaired respiratory rhythm and ventilatory responses to hypoxia and hypercapnia.
A medullary centre for lapping in mice.
Title: A medullary centre for lapping in mice.
Disordered breathing in a Pitt-Hopkins syndrome model involves Phox2b-expressing parafacial neurons and aberrant Nav1.8 expression.
Title: Disordered breathing in a Pitt-Hopkins syndrome model involves Phox2b-expressing parafacial neurons and aberrant Nav1.8 expression.
Respiratory Control by Phox2b-expressing Neurons in a Locus Coeruleus-preBotzinger Complex Circuit.
Title: Respiratory Control by Phox2b-expressing Neurons in a Locus Coeruleus-preBötzinger Complex Circuit.
Ultrahigh-Frequency Echocardiography of Autonomic Devoid Phox2B Homozygous Embryos Does Not Reveal a Significant Cardiac Phenotype before Embryo Death.
Title: Ultrahigh-Frequency Echocardiography of Autonomic Devoid Phox2B Homozygous Embryos Does Not Reveal a Significant Cardiac Phenotype before Embryo Death.
Rnf220/Zc4h2-mediated monoubiquitylation of Phox2 is required for noradrenergic neuron development.
Title: Rnf220/Zc4h2-mediated monoubiquitylation of Phox2 is required for noradrenergic neuron development.
The paired-like homeobox 2b gene (Phox2b) is the disease-defining gene for congenital central hypoventilation syndrome and is restrictively present in brainstem nucleus
Title: Activation of Phox2b-Expressing Neurons in the Nucleus Tractus Solitarii Drives Breathing in Mice.
This study demonstrated that the Phox2b distinguishes between oral and non-oral sensory neurons in the geniculate ganglion in mice.
Title: The transcription factor Phox2b distinguishes between oral and non-oral sensory neurons in the geniculate ganglion.

Submit: New GeneRIF Correction See all GeneRIFs (40)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (2) 1 citation
Endonuclease-mediated (3) 1 citation
Targeted (8) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Phox2b (e-PCR), detects polymorphism
- UniSTS:532323

MARC_17835-17836:1025010330:1 (e-PCR)
- UniSTS:268420

Pmx2b (e-PCR), detects polymorphism
- UniSTS:186528

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info	PubMed

Process	Evidence Code	Pubs
involved_in autonomic nervous system development	ISO Inferred from Sequence Orthology more info
involved_in brainstem development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell differentiation in hindbrain	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cellular response to BMP stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to carbon dioxide	IEA Inferred from Electronic Annotation more info
involved_in dopaminergic neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within efferent axon development in a lateral line nerve	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in enteric nervous system development	IBA Inferred from Biological aspect of Ancestor more info
involved_in enteric nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within glial cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hindbrain tangential cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inner ear development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in medullary reticular formation development	IEP Inferred from Expression Pattern more info	PubMed
involved_in membrane depolarization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within motor neuron migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of neuron differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of type B pancreatic cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neural crest cell migration involved in autonomic nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of neuron differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in noradrenergic neuron development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within noradrenergic neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in noradrenergic neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in parasympathetic nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cold-induced thermogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of neuron differentiation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of respiratory gaseous exchange by nervous system process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info	PubMed
involved_in respiratory system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to activity	IEA Inferred from Electronic Annotation more info
involved_in retrotrapezoid nucleus neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skeletal muscle cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sympathetic ganglion development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sympathetic nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of type B pancreatic cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in chromatin	IEA Inferred from Electronic Annotation more info
located_in chromatin	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: paired mesoderm homeobox protein 2B

Names: GENA 269; PHOX2B homeodomain protein; dilated pupils 1; neuroblastoma Phox; paired mesoderm homeobox 2b

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.