InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PHOX2B

Summary

InnateDB Protein

IDBP-15540.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PHOX2B

Protein Name

paired-like homeobox 2b

Synonyms

NBLST2; NBPhox; PMX2B;

Species

Homo sapiens

Ensembl Protein

ENSP00000226382

InnateDB Gene

IDBG-15536 (PHOX2B)

Protein Structure

UniProt Annotation

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.

Subcellular Localization

Nucleus {ECO:0000255PROSITE- ProRule:PRU00108}.

Disease Associations

Congenital central hypoventilation syndrome (CCHS) [MIM:209880]: 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. {ECO:0000269PubMed:12640453, ECO:0000269PubMed:14566559, ECO:0000269PubMed:15657873}. Note=The disease is caused by mutations affecting the gene represented in this entry.Neuroblastoma 2 (NBLST2) [MIM:613013]: 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. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Tissue Specificity

Expressed in neuroblastoma, brain and adrenal gland.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity

Biological Process

GO:0001764	neuron migration
GO:0002087	regulation of respiratory gaseous exchange by neurological system process
GO:0003357	noradrenergic neuron differentiation
GO:0003358	noradrenergic neuron development
GO:0003360	brainstem development
GO:0006351	transcription, DNA-templated
GO:0008285	negative regulation of cell proliferation
GO:0010001	glial cell differentiation
GO:0010468	regulation of gene expression
GO:0010971	positive regulation of G2/M transition of mitotic cell cycle
GO:0021533	cell differentiation in hindbrain
GO:0021723	medullary reticular formation development
GO:0021934	hindbrain tangential cell migration
GO:0030182	neuron differentiation
GO:0035914	skeletal muscle cell differentiation
GO:0045665	negative regulation of neuron differentiation
GO:0045666	positive regulation of neuron differentiation
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048468	cell development
GO:0048483	autonomic nervous system development
GO:0048484	enteric nervous system development
GO:0048485	sympathetic nervous system development
GO:0048486	parasympathetic nervous system development
GO:0048839	inner ear development
GO:0048894	efferent axon development in a lateral line nerve
GO:0060541	respiratory system development
GO:0061452	retrotrapezoid nucleus neuron differentiation
GO:0061549	sympathetic ganglion development
GO:0071157	negative regulation of cell cycle arrest
GO:0071542	dopaminergic neuron differentiation
GO:0071773	cellular response to BMP stimulus
GO:1901166	neural crest cell migration involved in autonomic nervous system development