Aliases for PHOX2B Gene
External Ids for PHOX2B Gene
Previous Symbols 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. [provided by RefSeq, Jul 2008]
GeneCards Summary for PHOX2B Gene
PHOX2B (Paired-Like Homeobox 2b) is a Protein Coding gene. Diseases associated with PHOX2B include neuroblastoma 2 and adrenal neuroblastoma. Among its related pathways are Neural Crest Differentiation and SIDS Susceptibility Pathways. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and RNA polymerase II regulatory region sequence-specific DNA binding. An important paralog of this gene is PRRX2.
UniProtKB/Swiss-Prot 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