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    PHOX2B paired like homeobox 2b [ Homo sapiens (human) ]

    Gene ID: 8929, updated on 7-Feb-2016
    Official Symbol
    PHOX2Bprovided by HGNC
    Official Full Name
    paired like homeobox 2bprovided by HGNC
    Primary source
    HGNC:HGNC:9143
    See related
    Ensembl:ENSG00000109132; HPRD:09157; MIM:603851; Vega:OTTHUMG00000099379
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PMX2B; NBLST2; NBPhox
    Summary
    The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription factor involved in the development of several major noradrenergic neuron populations and the determination of neurotransmitter phenotype. The gene product is linked to enhancement of second messenger-mediated activation of the dopamine beta-hydroylase, c-fos promoters and several enhancers, including cyclic amp-response element and serum-response element. [provided by RefSeq, Jul 2008]
    Orthologs
    See PHOX2B in Epigenomics, MapViewer
    Location:
    4p12
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 4 NC_000004.12 (41744082..41748970, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (41746099..41750987, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene LIM and calponin homology domains 1 Neighboring gene uncharacterized LOC105374421 Neighboring gene olfactory receptor family 5 subfamily M member 14 pseudogene Neighboring gene uncharacterized LOC105374424 Neighboring gene uncharacterized LOC105374425

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Neural Crest Differentiation, organism-specific biosystem (from WikiPathways)
      Neural Crest Differentiation, organism-specific biosystemGene regulatory network model of cranial neural crest cell (CNCC) development, adaped from PMID: 19575671. Most interactions in the model are proposed to regulate transcription of core factors involv...
    • SIDS Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
      SIDS Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    autonomic nervous system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    brainstem development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    cell differentiation in hindbrain ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to BMP stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    dopaminergic neuron differentiation IC
    Inferred by Curator
    more info
    PubMed 
    dopaminergic neuron differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    efferent axon development in a lateral line nerve ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enteric nervous system development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    glial cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    hindbrain tangential cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    inner ear development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    medullary reticular formation development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of cell cycle arrest ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    neural crest cell migration involved in autonomic nervous system development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    neuron migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    noradrenergic neuron development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    noradrenergic neuron differentiation IC
    Inferred by Curator
    more info
    PubMed 
    noradrenergic neuron differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    parasympathetic nervous system development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of G2/M transition of mitotic cell cycle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of respiratory gaseous exchange by neurological system process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    respiratory system development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    retrotrapezoid nucleus neuron differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    skeletal muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    sympathetic ganglion development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    sympathetic nervous system development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    nuclear chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    paired mesoderm homeobox protein 2B
    Names
    PHOX2B homeodomain protein
    neuroblastoma Phox
    neuroblastoma paired-type homeobox protein
    paired mesoderm homeobox 2b
    paired-like homeobox 2b

    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.

    Genomic

    1. NG_008243.1 RefSeqGene

      Range
      5001..9889
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_513

    mRNA and Protein(s)

    1. NM_003924.3NP_003915.2  paired mesoderm homeobox protein 2B

      See identical proteins and their annotated locations for NP_003915.2

      Status: REVIEWED

      Source sequence(s)
      AC105389, AI266171, BC017199, D82344
      Consensus CDS
      CCDS3463.1
      UniProtKB/Swiss-Prot
      Q99453
      Related
      ENSP00000226382, OTTHUMP00000125223, ENST00000226382, OTTHUMT00000216832
      Conserved Domains (1) summary
      cd00086
      Location:99157
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p2 Primary Assembly

      Range
      41744082..41748970 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018915.2 Alternate CHM1_1.1

      Range
      41746637..41751525 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)