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

    Gene ID: 8929, updated on 15-Jan-2024

    Summary

    Official Symbol
    PHOX2Bprovided by HGNC
    Official Full Name
    paired like homeobox 2Bprovided by HGNC
    Primary source
    HGNC:HGNC:9143
    See related
    Ensembl:ENSG00000109132 MIM:603851; AllianceGenome:HGNC:9143
    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
    CCHS; 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. Expansion of a 20 amino acid polyalanine tract in this protein by 5-13 aa has been associated with congenital central hypoventilation syndrome. [provided by RefSeq, Jul 2016]
    Expression
    Biased expression in adrenal (RPKM 4.8), small intestine (RPKM 0.5) and 3 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See PHOX2B in Genome Data Viewer
    Location:
    4p13
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (41744082..41748725, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (41717855..41722498, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (41746099..41750742, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene LIM and calponin homology domains 1 Neighboring gene uncharacterized LOC105374421 Neighboring gene paired like homeobox 2b polyalanine repeat instability region Neighboring gene olfactory receptor family 5 subfamily M member 14 pseudogene Neighboring gene PHOX2B antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 462 Neighboring gene RNA, U1 small nuclear 49, pseudogene Neighboring gene high mobility group box 1 pseudogene 28

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in autonomic nervous system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in brainstem development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in cell differentiation in hindbrain ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to BMP stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to carbon dioxide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dopaminergic neuron differentiation IC
    Inferred by Curator
    more info
    PubMed 
    involved_in dopaminergic neuron differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in efferent axon development in a lateral line nerve ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in enteric nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in enteric nervous system development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in glial cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in hindbrain tangential cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in inner ear development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in medullary reticular formation development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in membrane depolarization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in motor neuron migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of type B pancreatic cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neural crest cell migration involved in autonomic nervous system development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neuron migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in noradrenergic neuron development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in noradrenergic neuron differentiation IC
    Inferred by Curator
    more info
    PubMed 
    involved_in noradrenergic neuron differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in parasympathetic nervous system development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of G2/M transition of mitotic cell cycle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cold-induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in positive regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of respiratory gaseous exchange by nervous system process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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 
    involved_in respiratory system development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to activity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in retrotrapezoid nucleus neuron differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in skeletal muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sympathetic ganglion development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in sympathetic nervous system development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in type B pancreatic cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    paired mesoderm homeobox protein 2B
    Names
    PHOX2B homeodomain protein
    neuroblastoma Phox
    neuroblastoma paired-type homeobox protein
    paired like homeobox2B
    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.

    Genomic

    1. NG_008243.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_003924.4NP_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
      Q6PJD9, Q99453
      UniProtKB/TrEMBL
      A0A455R6J4
      Related
      ENSP00000226382.2, ENST00000226382.4
      Conserved Domains (1) summary
      pfam00046
      Location:102155
      Homeobox; Homeobox domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      41744082..41748725 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      41717855..41722498 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)