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

Gene ID: 8929, updated on 19-Jul-2014
Official Symbol
PHOX2Bprovided by HGNC
Official Full Name
paired-like homeobox 2bprovided by HGNC
Primary source
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]
See PHOX2B in Epigenomics, MapViewer
Location:
4p12
Exon count:
3
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 ribosomal protein L12 pseudogene 20 Neighboring gene olfactory receptor, family 5, subfamily M, member 14 pseudogene Neighboring gene high mobility group box 1 pseudogene 28 Neighboring gene long intergenic non-protein coding RNA 682

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, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nuclear chromatin IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
paired mesoderm homeobox protein 2B
Names
paired mesoderm homeobox protein 2B
neuroblastoma Phox
PHOX2B homeodomain protein
paired mesoderm homeobox 2b
neuroblastoma paired-type homeobox protein

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 

    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 proteins identical to 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
    Blast Score: 235
    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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000004.12 

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

Alternate HuRef

Genomic

  1. AC_000136.1 

    Range
    41068497..41073385
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018915.2 

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