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

    Gene ID: 18935, updated on 2-Nov-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 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
    NEW
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    Genomic context

    See Phox2b in Genome Data Viewer
    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 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
     
    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

    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)

    NEW Try the new Transcript table

    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)