Aliases for PHOX2B Gene
External Ids for PHOX2B Gene
Previous HGNC Symbols for PHOX2B Gene
Previous GeneCards Identifiers for PHOX2B Gene
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]
GeneCards Summary for PHOX2B Gene
PHOX2B (Paired Like Homeobox 2B) is a Protein Coding gene. Diseases associated with PHOX2B include Central Hypoventilation Syndrome, Congenital and Neuroblastoma 2. Among its related pathways are Neural Crest Differentiation and Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. Gene Ontology (GO) annotations related to this gene include RNA polymerase II proximal promoter sequence-specific DNA binding and RNA polymerase II regulatory region sequence-specific DNA binding. An important paralog of this gene is PHOX2A.
UniProtKB/Swiss-Prot Summary for PHOX2B Gene
Involved in the development of several major noradrenergic neuron populations, including the locus coeruleus. Transcription factor which could determine a neurotransmitter phenotype in vertebrates. Enhances second-messenger-mediated activation of the dopamine beta-hydrolase and c-fos promoters, and of several enhancers including cAMP-response element and serum-response element.