Entity Details

Primary name PHOX2B
Entity type gene
Source Source Link

Details

PrimaryID8929
RefseqGeneNG_008243
SymbolPHOX2B
Namepaired like homeobox 2B
Chromosome4
Location4p13
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-01-11
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsPHX2B_HUMAN

GO terms

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GOName
GO:0000785 chromatin
GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0001764 neuron migration
GO:0002087 regulation of respiratory gaseous exchange by nervous system process
GO:0003357 noradrenergic neuron differentiation
GO:0003358 noradrenergic neuron development
GO:0003360 brainstem development
GO:0005654 nucleoplasm
GO:0006357 regulation of transcription by RNA polymerase II
GO:0008285 negative regulation of cell population 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: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 by RNA polymerase II
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:0071542 dopaminergic neuron differentiation
GO:0071773 cellular response to BMP stimulus
GO:0120162 positive regulation of cold-induced thermogenesis
GO:1901166 neural crest cell migration involved in autonomic nervous system development
GO:1990837 sequence-specific double-stranded DNA binding

Diseases

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Disease IDSourceNameDescription
209880 OMIMCongenital central hypoventilation syndrome (CCHS)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. The disease is caused by variants affecting the gene represented in this entry.
613013 OMIMNeuroblastoma 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. Disease susceptibility is associated with variants affecting the gene represented in this entry.

Interactions

2 interactions

InteractorPartnerSourcesPublicationsLink
PHOX2BCREBBPBioGRID19191321 details
PHOX2BPRKAB1BioGRID31900314 details