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Phox2b - paired-like homeobox 2b Gene

Also Known as Px2b; Dilp1; Pmx2b; NBPhox

Species: Mus musculus

Gene Type: protein coding

Gene ID: 18935

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 nervous system development; regulation of neuron differentiation; and skeletal muscle cell differentiation. Located in nucleus. Is expressed in several structures, including adrenal gland; alimentary system; epibranchial placode; genitourinary system; and nervous system. Used to study congenital central hypoventilation syndrome. Human ortholog(s) of this gene implicated in congenital central hypoventilation syndrome. Orthologous to human PHOX2B (paired like homeobox 2B). [provided by Alliance of Genome Resources, Apr 2022]

Phox2b Products (1)

mRNA	Protein	Name
NM_008888.3	NP_032914.1	paired mesoderm homeobox protein 2B

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	32094113	MGI
enables protein binding	IPI IPI: Inferred from physical interaction	32094113	MGI
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	32094113	MGI

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within cell development	IMP IMP: Inferred from mutant phenotype	15733675	MGI
acts upstream of or within cell differentiation in hindbrain	IMP IMP: Inferred from mutant phenotype	17922007	MGI
acts upstream of cell population proliferation	IMP IMP: Inferred from mutant phenotype	18506029	MGI
acts upstream of or within cellular response to BMP stimulus	IDA IDA: Inferred from direct assay	19793887	MGI
involved in dopaminergic neuron differentiation	IMP IMP: Inferred from mutant phenotype	10360575	MGI
acts upstream of or within efferent axon development in a lateral line nerve	IMP IMP: Inferred from mutant phenotype	12885554	MGI
involved in enteric nervous system development	IMP IMP: Inferred from mutant phenotype	10360575	MGI
acts upstream of or within glial cell differentiation	IMP IMP: Inferred from mutant phenotype	18506029	MGI
acts upstream of or within hindbrain tangential cell migration	IMP IMP: Inferred from mutant phenotype	21068058	MGI
acts upstream of or within inner ear development	IMP IMP: Inferred from mutant phenotype	12885554	MGI
involved in medullary reticular formation development	IEP IEP: Inferred from expression pattern	9374403	MGI
acts upstream of or within motor neuron migration	IMP IMP: Inferred from mutant phenotype	16319924	MGI
acts upstream of or within negative regulation of neuron differentiation	IGI IGI: Inferred from genetic interaction	17922007	MGI
acts upstream of or within negative regulation of type B pancreatic cell proliferation	IMP IMP: Inferred from mutant phenotype	18506029	MGI
involved in neural crest cell migration involved in autonomic nervous system development	IMP IMP: Inferred from mutant phenotype	10360575	MGI
acts upstream of neuron differentiation	IGI IGI: Inferred from genetic interaction	17922007	MGI
acts upstream of or within neuron differentiation	IMP IMP: Inferred from mutant phenotype	17922007	MGI
involved in noradrenergic neuron development	IMP IMP: Inferred from mutant phenotype	18094025	MGI
acts upstream of or within noradrenergic neuron differentiation	IMP IMP: Inferred from mutant phenotype	21068058	MGI
involved in noradrenergic neuron differentiation	IMP IMP: Inferred from mutant phenotype	10360575	MGI
involved in parasympathetic nervous system development	IMP IMP: Inferred from mutant phenotype	10360575	MGI
involved in positive regulation of cold-induced thermogenesis	IMP IMP: Inferred from mutant phenotype	21977017	MGI
acts upstream of or within positive regulation of neuron differentiation	IGI IGI: Inferred from genetic interaction	17922007	MGI
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	10395798	MGI
involved in regulation of gene expression	IMP IMP: Inferred from mutant phenotype	18094025	MGI
involved in regulation of respiratory gaseous exchange by nervous system process	IMP IMP: Inferred from mutant phenotype	19940179	MGI
acts upstream of or within regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	32094113	MGI
involved in respiratory system development	IMP IMP: Inferred from mutant phenotype	19940179	MGI
involved in retrotrapezoid nucleus neuron differentiation	IMP IMP: Inferred from mutant phenotype	19940179	MGI
acts upstream of or within skeletal muscle cell differentiation	IMP IMP: Inferred from mutant phenotype	22147266	MGI
involved in sympathetic ganglion development	IMP IMP: Inferred from mutant phenotype	18094025	MGI
involved in sympathetic nervous system development	IMP IMP: Inferred from mutant phenotype	10360575	MGI
acts upstream of type B pancreatic cell proliferation	IMP IMP: Inferred from mutant phenotype	18506029	MGI

Cellular Component GO Annotation	Evidence	References	Source
located in nucleus	IDA IDA: Inferred from direct assay	9758704	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
paired mesoderm homeobox protein 2B	GENA 269 PHOX2B homeodomain protein dilated pupils 1 neuroblastoma Phox paired mesoderm homeobox 2b

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10452	PHOX2B Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Phox2b	NCBI	NCBI:8929