PHOX2B

PHOX2B
Identifiers
Aliases	PHOX2B, NBLST2, NBPhox, PMX2B, paired like homeobox 2b, CCHS
External IDs	OMIM: 603851; MGI: 1100882; HomoloGene: 68371; GeneCards: PHOX2B; OMA:PHOX2B - orthologs
Gene location (Human) Chr. Chromosome 4 (human)[1] Band 4p13 Start 41,744,082 bp[1] End 41,748,725 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5 C3.1|5 35.95 cM Start 67,251,742 bp[2] End 67,256,644 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in muscle layer of sigmoid colon buccal mucosa cell dorsal motor nucleus of vagus nerve inferior olivary nucleus rectum transverse colon appendix small intestine right adrenal gland duodenum Top expressed in migratory enteric neural crest cell external carotid artery pelvic ganglion enteric nervous system internal carotid artery adrenal gland facial motor nucleus female urethra medial vestibular nucleus male urethra More reference expression data BioGPS n/a
Gene ontology Molecular function sequence-specific DNA binding RNA polymerase II transcription regulatory region sequence-specific DNA binding RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA binding DNA-binding transcription activator activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus nucleoplasm Biological process negative regulation of cell population proliferation glial cell differentiation respiratory system development positive regulation of G2/M transition of mitotic cell cycle medullary reticular formation development transcription, DNA-templated parasympathetic nervous system development regulation of respiratory gaseous exchange by nervous system process noradrenergic neuron development cellular response to BMP stimulus multicellular organism development neural crest cell migration involved in autonomic nervous system development hindbrain tangential cell migration sympathetic nervous system development skeletal muscle cell differentiation enteric nervous system development retrotrapezoid nucleus neuron differentiation regulation of gene expression positive regulation of neuron differentiation brainstem development inner ear development cell development regulation of transcription, DNA-templated sympathetic ganglion development negative regulation of neuron differentiation cell differentiation in hindbrain autonomic nervous system development efferent axon development in a lateral line nerve neuron differentiation neuron migration dopaminergic neuron differentiation noradrenergic neuron differentiation positive regulation of transcription by RNA polymerase II transcription by RNA polymerase II positive regulation of cold-induced thermogenesis 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: 67.25 – 67.26 Mb PubMed search [3] [4]
Wikidata
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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.^[5]

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.