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

Gene ID: 18935, updated on 21-Apr-2024

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 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]
Expression
Biased expression in adrenal adult (RPKM 7.4), whole brain E14.5 (RPKM 3.2) and 9 other tissues See more
Orthologs
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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_000071.7Genomic Context describing neighboring genes Neighboring gene LIM and calponin homology domains 1 Neighboring gene eukaryotic translation elongation factor 1 gamma pseudogene Neighboring gene STARR-seq mESC enhancer starr_13307 Neighboring gene STARR-seq mESC enhancer starr_13308 Neighboring gene STARR-seq mESC enhancer starr_13309 Neighboring gene predicted gene, 33040 Neighboring gene STARR-seq mESC enhancer starr_13310 Neighboring gene predicted gene, 33167 Neighboring gene STARR-seq mESC enhancer starr_13312 Neighboring gene STARR-positive B cell enhancer mm9_chr5:67623014-67623314 Neighboring gene predicted gene, 33293 Neighboring gene predicted gene, 40314

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Process Evidence Code Pubs
involved_in autonomic nervous system development ISO
Inferred from Sequence Orthology
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 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 
acts_upstream_of_or_within motor neuron migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
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 DNA-templated transcription IEA
Inferred from Electronic Annotation
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 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
part_of chromatin ISO
Inferred from Sequence Orthology
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

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.

mRNA and Protein(s)

  1. NM_008888.4NP_032914.1  paired mesoderm homeobox protein 2B

    See identical proteins and their annotated locations for NP_032914.1

    Status: VALIDATED

    Source sequence(s)
    AC119834
    Consensus CDS
    CCDS19316.1
    UniProtKB/Swiss-Prot
    O35690
    Related
    ENSMUSP00000012664.8, ENSMUST00000012664.11
    Conserved Domains (1) summary
    pfam00046
    Location:102155
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000071.7 Reference GRCm39 C57BL/6J

    Range
    67251751..67256399 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)