PHOX2B, 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 mouse all