Details for: PHOX2B

Gene ID: 8929

Symbol: PHOX2B

Ensembl ID: ENSG00000109132

Description: paired like homeobox 2B

Associated with

  • Autonomic nervous system development
    (GO:0048483)
  • Brainstem development
    (GO:0003360)
  • Cell differentiation in hindbrain
    (GO:0021533)
  • Cellular response to bmp stimulus
    (GO:0071773)
  • Cellular response to carbon dioxide
    (GO:0071244)
  • Chromatin
    (GO:0000785)
  • Dna-binding transcription activator activity, rna polymerase ii-specific
    (GO:0001228)
  • Dna-binding transcription factor activity, rna polymerase ii-specific
    (GO:0000981)
  • Dopaminergic neuron differentiation
    (GO:0071542)
  • Efferent axon development in a lateral line nerve
    (GO:0048894)
  • Enteric nervous system development
    (GO:0048484)
  • Glial cell differentiation
    (GO:0010001)
  • Hindbrain tangential cell migration
    (GO:0021934)
  • Inner ear development
    (GO:0048839)
  • Medullary reticular formation development
    (GO:0021723)
  • Membrane depolarization
    (GO:0051899)
  • Motor neuron migration
    (GO:0097475)
  • Negative regulation of neuron differentiation
    (GO:0045665)
  • Negative regulation of type b pancreatic cell proliferation
    (GO:1904691)
  • Neural crest cell migration involved in autonomic nervous system development
    (GO:1901166)
  • Neuron migration
    (GO:0001764)
  • Noradrenergic neuron development
    (GO:0003358)
  • Noradrenergic neuron differentiation
    (GO:0003357)
  • Nucleoplasm
    (GO:0005654)
  • Parasympathetic nervous system development
    (GO:0048486)
  • Positive regulation of cold-induced thermogenesis
    (GO:0120162)
  • Positive regulation of g2/m transition of mitotic cell cycle
    (GO:0010971)
  • Positive regulation of neuron differentiation
    (GO:0045666)
  • Positive regulation of transcription by rna polymerase ii
    (GO:0045944)
  • Regulation of gene expression
    (GO:0010468)
  • Regulation of respiratory gaseous exchange by nervous system process
    (GO:0002087)
  • Regulation of transcription by rna polymerase ii
    (GO:0006357)
  • Respiratory system development
    (GO:0060541)
  • Response to activity
    (GO:0014823)
  • Retrotrapezoid nucleus neuron differentiation
    (GO:0061452)
  • Rna polymerase ii cis-regulatory region sequence-specific dna binding
    (GO:0000978)
  • Rna polymerase ii transcription regulatory region sequence-specific dna binding
    (GO:0000977)
  • Sequence-specific double-stranded dna binding
    (GO:1990837)
  • Skeletal muscle cell differentiation
    (GO:0035914)
  • Sympathetic ganglion development
    (GO:0061549)
  • Sympathetic nervous system development
    (GO:0048485)
  • Type b pancreatic cell proliferation
    (GO:0044342)

Other Information

Genular Protein ID: 411743358

Symbol: PHX2B_HUMAN

Name: Paired mesoderm homeobox protein 2B

UniProtKB Accession Codes:

Q99453 Q6PJD9

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 4 EPD 1 Ensembl 1 GO 42 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 5 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PIR 1 PRO 1 PROSITE 2 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 1 SAM 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9039501

Title: Identification and cloning of neuroblastoma-specific and nerve tissue-specific genes through compiled expression profiles.

PubMed ID: 9039501

DOI: 10.1093/dnares/3.5.311

PubMed ID: 11034547

Title: Paired-like homeodomain proteins Phox2a/Arix and Phox2b/NBPhox have similar genetic organization and independently regulate dopamine beta-hydroxylase gene transcription.

PubMed ID: 11034547

DOI: 10.1089/104454900439773

PubMed ID: 10395798

Title: Genomic structure and functional characterization of NBPhox (PMX2B), a homeodomain protein specific to catecholaminergic cells that is involved in second messenger-mediated transcriptional activation.

PubMed ID: 10395798

DOI: 10.1006/geno.1999.5845

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 14566559

Title: Molecular analysis of congenital central hypoventilation syndrome.

PubMed ID: 14566559

DOI: 10.1007/s00439-003-1036-z

PubMed ID: 12640453

Title: Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.

PubMed ID: 12640453

DOI: 10.1038/ng1130

PubMed ID: 15024693

Title: Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma.

PubMed ID: 15024693

DOI: 10.1086/383253

PubMed ID: 15657873

Title: PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome.

PubMed ID: 15657873

DOI: 10.1086/428366

PubMed ID: 16691592

Title: PHOX2B analysis in non-syndromic neuroblastoma cases shows novel mutations and genotype-phenotype associations.

PubMed ID: 16691592

DOI: 10.1002/ajmg.a.31278

Sequence Information:

  • Length: 314
  • Mass: 31621
  • Checksum: 40737F71948B595A
  • Sequence:
    • MYKMEYSYLN SSAYESCMAG MDTSSLASAY ADFSSCSQAS GFQYNPIRTT FGATSGCPSL 
TPGSCSLGTL RDHQSSPYAA VPYKLFTDHG GLNEKRKQRR IRTTFTSAQL KELERVFAET 
HYPDIYTREE LALKIDLTEA RVQVWFQNRR AKFRKQERAA AAAAAAAKNG SSGKKSDSSR 
DDESKEAKST DPDSTGGPGP NPNPTPSCGA NGGGGGGPSP AGAPGAAGPG GPGGEPGKGG 
AAAAAAAAAA AAAAAAAAAA GGLAAAGGPG QGWAPGPGPI TSIPDSLGGP FASVLSSLQR 
PNGAKAALVK SSMF

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.