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

Gene ID: 8929, updated on 5-Jan-2025

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
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Genomic context

See PHOX2B in Genome Data Viewer
Location:
4p13
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (41744082..41748725, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (41717855..41722498, complement)
RS_2024_09 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: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2024-07-10)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2024-07-10)

ClinGen Genome Curation PagePubMed

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Items 1 - 25 of 40
Process Evidence Code Pubs
involved_in autonomic nervous system development PubMed 
involved_in brainstem development PubMed 
involved_in cell differentiation in hindbrain  
involved_in cellular response to BMP stimulus  
involved_in cellular response to carbon dioxide  
involved_in dopaminergic neuron differentiation PubMed 
involved_in dopaminergic neuron differentiation  
involved_in efferent axon development in a lateral line nerve  
involved_in enteric nervous system development  
involved_in enteric nervous system development PubMed 
involved_in glial cell differentiation  
involved_in hindbrain tangential cell migration  
involved_in inner ear development  
involved_in medullary reticular formation development  
involved_in membrane depolarization  
involved_in motor neuron migration  
involved_in negative regulation of neuron differentiation  
involved_in negative regulation of type B pancreatic cell proliferation  
involved_in neural crest cell migration involved in autonomic nervous system development  
involved_in neuron migration  
involved_in noradrenergic neuron development  
involved_in noradrenergic neuron differentiation PubMed 
involved_in noradrenergic neuron differentiation  
involved_in parasympathetic nervous system development  
involved_in positive regulation of G2/M transition of mitotic cell cycle  
involved_in positive regulation of cold-induced thermogenesis PubMed 
involved_in positive regulation of neuron differentiation  
involved_in positive regulation of transcription by RNA polymerase II PubMed 
involved_in positive regulation of transcription by RNA polymerase II PubMed 
involved_in regulation of gene expression  
involved_in regulation of respiratory gaseous exchange by nervous system process  
involved_in regulation of transcription by RNA polymerase II  
acts_upstream_of_or_within regulation of transcription by RNA polymerase II PubMed 
involved_in respiratory system development  
involved_in response to activity  
involved_in retrotrapezoid nucleus neuron differentiation  
involved_in skeletal muscle cell differentiation  
involved_in sympathetic ganglion development  
involved_in sympathetic nervous system development  
involved_in type B pancreatic cell proliferation  
Items 1 - 25 of 40
Component Evidence Code Pubs
located_in chromatin PubMed 
located_in chromatin  
located_in nucleoplasm  

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)

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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_2024_08

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)
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