PHOX2B

Paired-like homeobox 2b
Identifiers
Symbols	PHOX2B ; NBLST2; NBPhox; PMX2B
External IDs	OMIM: 603851 MGI: 1100882 HomoloGene: 68371 GeneCards: PHOX2B Gene
Gene ontology Molecular function • RNA polymerase II regulatory region sequence-specific DNA binding • RNA polymerase II core promoter proximal region sequence-specific DNA binding • transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding Cellular component • nuclear chromatin Biological process • neuron migration • regulation of respiratory gaseous exchange by neurological system process • noradrenergic neuron differentiation • noradrenergic neuron development • brainstem development • transcription from RNA polymerase II promoter • negative regulation of cell proliferation • glial cell differentiation • regulation of gene expression • positive regulation of G2/M transition of mitotic cell cycle • cell differentiation in hindbrain • medullary reticular formation development • hindbrain tangential cell migration • skeletal muscle cell differentiation • negative regulation of neuron differentiation • positive regulation of neuron differentiation • positive regulation of transcription from RNA polymerase II promoter • autonomic nervous system development • enteric nervous system development • sympathetic nervous system development • parasympathetic nervous system development • inner ear development • efferent axon development in a lateral line nerve • respiratory system development • retrotrapezoid nucleus neuron differentiation • sympathetic ganglion development • negative regulation of cell cycle arrest • dopaminergic neuron differentiation • cellular response to BMP stimulus • neural crest cell migration involved in autonomic nervous system development Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	8929	18935
Ensembl	ENSG00000109132	ENSMUSG00000012520
UniProt	Q99453	O35690
RefSeq (mRNA)	NM_003924	NM_008888
RefSeq (protein)	NP_003915	NP_032914
Location (UCSC)	Chr 4: 41.74 – 41.75 Mb	Chr 5: 67.09 – 67.1 Mb
PubMed search	[1]	[2]

Paired-like homeobox 2b (PHOX2B), also known as neuroblastoma Phox (NBPhox), is a protein that in humans is encoded by the PHOX2B gene located on chromosome 4.

It codes for a homeodomain transcription factor. It is expressed exclusively in the nervous system, in most neurons that control the viscera (cardiovascular, digestive and respiratory systems). It is also required for their differentiation.

Pathology

Mutations in human PHOX2B cause a rare disease of the visceral nervous system (dysautonomia): Ondine's curse or Congenital Central Hypoventilation Syndrome (associated with respiratory arrests during sleep and, occasionally, wakefulness), Hirschprung's disease (partial agenesis of the enteric nervous system), ROHHAD, and tumours of the sympathetic ganglia. In most people, Exon 3 of the gene contains a sequence of 20 polyalanine repeats. An increase in the number of repeats is associated with congenital central hypoventilation syndrome. There may also be other pathogenic mutations further along the gene.

External links

• GeneReviews/NCBI/NIH/UW entry on Congenital Central Hypoventilation Syndrome
• Phox2b protein at the US National Library of Medicine Medical Subject Headings (MeSH)