PHOX2B

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]

Full Name

Paired Like Homeobox 2b

Function

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.

Biological Process

Autonomic nervous system developmentManual Assertion Based On ExperimentIMP:BHF-UCL
Brainstem developmentManual Assertion Based On ExperimentIEP:BHF-UCL
Cell differentiation in hindbrainISS:BHF-UCL
Cellular response to BMP stimulusISS:BHF-UCL
Dopaminergic neuron differentiationISS:BHF-UCL
Efferent axon development in a lateral line nerveISS:BHF-UCL
Enteric nervous system developmentManual Assertion Based On ExperimentIEP:BHF-UCL
Glial cell differentiationISS:BHF-UCL
Hindbrain tangential cell migrationISS:BHF-UCL
Inner ear developmentISS:BHF-UCL
Medullary reticular formation developmentISS:BHF-UCL
Negative regulation of cell population proliferationIEA:Ensembl
Negative regulation of neuron differentiationIEA:Ensembl
Neural crest cell migration involved in autonomic nervous system developmentISS:BHF-UCL
Neuron migrationISS:BHF-UCL
Noradrenergic neuron developmentISS:UniProtKB
Noradrenergic neuron differentiationISS:BHF-UCL
Parasympathetic nervous system developmentISS:BHF-UCL
Positive regulation of cold-induced thermogenesisBy SimilarityISS:YuBioLab
Positive regulation of G2/M transition of mitotic cell cycleISS:UniProtKB
Positive regulation of neuron differentiationIEA:Ensembl
Positive regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIDA:BHF-UCL
Regulation of gene expressionISS:UniProtKB
Regulation of respiratory gaseous exchange by nervous system processISS:BHF-UCL
Regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIDA:MGI
Respiratory system developmentISS:BHF-UCL
Retrotrapezoid nucleus neuron differentiationISS:BHF-UCL
Skeletal muscle cell differentiationIEA:Ensembl
Sympathetic ganglion developmentISS:UniProtKB
Sympathetic nervous system developmentISS:BHF-UCL

Cellular Location

Nucleus

Involvement in disease

Congenital central hypoventilation syndrome (CCHS):
An autosomal dominant form of congenital central hypoventilation syndrome, a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular or lung disease, or an identifiable brain stem lesion. A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia.
Neuroblastoma 2 (NBLST2):
A common neoplasm of early childhood arising from embryonic cells that form the primitive neural crest and give rise to the adrenal medulla and the sympathetic nervous system.