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PHOX2B (human)

Overview PHOX2B 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. Defects in PHOX2B are a cause of congenital central hypoventilation syndrome (CCHS); also known as congenital failure of autonomic control or Ondine curse. Most mutations consist of 5-10 alanine expansions in the poly-Ala region from amino acids 241-260. CCHS is 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. CCHS is frequently complicated with neurocristopathies such as Hirschsprung disease that occurs in about 16% of CCHS cases. Defects in PHOX2B are the cause of susceptibility to neuroblastoma type 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. Belongs to the paired homeobox family. Note: This description may include information from UniProtKB. Protein type: Transcription regulation; DNA binding protein Cellular Component: nuclear chromatin Molecular Function: transcription factor activity Biological Process: autonomic nervous system development; hindbrain tangential cell migration; transcription, DNA-dependent; neuron migration; neurological control of breathing; enteric nervous system development; rhombencephalic reticular formation development; negative regulation of cell proliferation; negative regulation of neuron differentiation; sympathetic nervous system development; cell differentiation in hindbrain; parasympathetic nervous system development; glial cell differentiation; efferent axon development in a lateral line nerve; positive regulation of transcription from RNA polymerase II promoter; positive regulation of neuron differentiation; inner ear development Reference #:  Q99453 (UniProtKB) Alt. Names/Synonyms: NBLST2; NBPhox; neuroblastoma paired-type homeobox protein; Neuroblastoma Phox; paired mesoderm homeobox 2b; Paired mesoderm homeobox protein 2B; Paired-like homeobox 2B; PHOX2B; PHOX2B homeodomain protein; PHX2B; PMX2B Gene Symbols: PHOX2B Molecular weight: 31,621 Da Basal Isoelectric point: 9.02  Predict pI for various phosphorylation states

Select Structure to View Below PHOX2B

STRING  |  Scansite  |  Phospho.ELM  |  NetworKIN  |  Pfam  |  DISEASE 142623 209880 256700 603851 613013  |  InnateDB  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene

	Modification Sites and Domains

	Modification Sites in Parent Protein, Orthologs, and Isoforms

SS  SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.	MS  MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.			human
0	2		Y78-p	RDHQSSPyAAVPYKL
0	1		T87-p	AVPYKLFtDHGGLNE
0	1		S171-p	AAAAKNGssGKKsDS
0	1		S172-p	AAAKNGssGKKsDSS
0	1		S176-p	NGssGKKsDSSRDDE

	mouse
Y78	RDHQSSPYAAVPYKL
T87	AVPYKLFTDHGGLNE
S171	AAAAKNGSSGKKSDS
S172	AAAKNGSSGKKSDSS
S176	NGSSGKKSDSSRDDE

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