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

Gene ID: 8929, updated on 12-Oct-2019

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
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

Genomic context

See PHOX2B in Genome Data Viewer
Location:
4p13
Exon count:
3
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (41744082..41748725, 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 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 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 BioSystems

  • 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...
  • Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
    Sudden Infant Death Syndrome (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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
autonomic nervous system development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
nervous system development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 cold-induced thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II 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
 
Component Evidence Code Pubs
nuclear chromatin IDA
Inferred from Direct Assay
more info
PubMed 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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)

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
    Q99453
    Related
    ENSP00000226382.2, ENST00000226382.3
    Conserved Domains (1) summary
    pfam00046
    Location:102154
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

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