• Gene id: 8929

Gene Summary

• Gene Symbol: PHOX2B   Gene   UCSC   Ensembl
• Aliases: CCHS, NBLST2, NBPhox, PMX2B
• Gene name: paired like homeobox 2B
• Alternate names: paired mesoderm homeobox protein 2B, PHOX2B homeodomain protein, neuroblastoma Phox, neuroblastoma paired-type homeobox protein, paired like homeobox2B, paired mesoderm homeobox 2b,
• Gene location: 4p13 (41748724: 41744081)     Exons: 3     NC_000004.12
• Gene summary(Entrez): 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 a
• OMIM: 603851

Protein Summary

• Protein general information: Q99453  
  • Name: Paired mesoderm homeobox protein 2B (Neuroblastoma Phox) (NBPhox) (PHOX2B homeodomain protein) (Paired like homeobox 2B)
  • Length: 314  
  • Mass: 31621
  • Tissue specificity: Expressed in neuroblastoma, brain and adrenal gland.
• Sequence:

  MYKMEYSYLNSSAYESCMAGMDTSSLASAYADFSSCSQASGFQYNPIRTTFGATSGCPSLTPGSCSLGTLRDHQS
  SPYAAVPYKLFTDHGGLNEKRKQRRIRTTFTSAQLKELERVFAETHYPDIYTREELALKIDLTEARVQVWFQNRR
  AKFRKQERAAAAAAAAAKNGSSGKKSDSSRDDESKEAKSTDPDSTGGPGPNPNPTPSCGANGGGGGGPSPAGAPG
  AAGPGGPGGEPGKGGAAAAAAAAAAAAAAAAAAAAGGLAAAGGPGQGWAPGPGPITSIPDSLGGPFASVLSSLQR
  PNGAKAALVKSSMF

• Structural information:
  • Interpro: IPR009057  IPR017970  IPR001356  
  • Prosite: PS00027 PS50071
  • CDD: cd00086
  • STRING: ENSP00000226382
• Other Databases: GeneCards:  PHOX2B  Malacards:  PHOX2B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0048484	enteric nervous system development	IBA	biological process
GO:0048483	autonomic nervous system development	IBA	biological process
GO:0007399	nervous system development	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0071157	negative regulation of cell cycle arrest	ISS	biological process
GO:0061549	sympathetic ganglion development	ISS	biological process
GO:0010971	positive regulation of G2/M transition of mitotic cell cycle	ISS	biological process
GO:0010468	regulation of gene expression	ISS	biological process
GO:0003358	noradrenergic neuron development	ISS	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0001764	neuron migration	IEA	biological process
GO:0002087	regulation of respiratory gaseous exchange by nervous system process	IEA	biological process
GO:0003357	noradrenergic neuron differentiation	IEA	biological process
GO:0008285	negative regulation of cell population proliferation	IEA	biological process
GO:0021533	cell differentiation in hindbrain	IEA	biological process
GO:0045666	positive regulation of neuron differentiation	IEA	biological process
GO:0048894	efferent axon development in a lateral line nerve	IEA	biological process
GO:0060541	respiratory system development	IEA	biological process
GO:0061549	sympathetic ganglion development	IEA	biological process
GO:0071773	cellular response to BMP stimulus	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003358	noradrenergic neuron development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0010001	glial cell differentiation	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0021723	medullary reticular formation development	IEA	biological process
GO:0021934	hindbrain tangential cell migration	IEA	biological process
GO:0030182	neuron differentiation	IEA	biological process
GO:0035914	skeletal muscle cell differentiation	IEA	biological process
GO:0045665	negative regulation of neuron differentiation	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0048468	cell development	IEA	biological process
GO:0048484	enteric nervous system development	IEA	biological process
GO:0048485	sympathetic nervous system development	IEA	biological process
GO:0048486	parasympathetic nervous system development	IEA	biological process
GO:0048839	inner ear development	IEA	biological process
GO:0061452	retrotrapezoid nucleus neuron differentiation	IEA	biological process
GO:0071542	dopaminergic neuron differentiation	IEA	biological process
GO:0120162	positive regulation of cold-induced thermogenesis	IEA	biological process
GO:1901166	neural crest cell migration involved in autonomic nervous system development	IEA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0003357	noradrenergic neuron differentiation	IC	biological process
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0071542	dopaminergic neuron differentiation	IC	biological process
GO:0001764	neuron migration	ISS	biological process
GO:0002087	regulation of respiratory gaseous exchange by nervous system process	ISS	biological process
GO:0003357	noradrenergic neuron differentiation	ISS	biological process
GO:0021533	cell differentiation in hindbrain	ISS	biological process
GO:0048894	efferent axon development in a lateral line nerve	ISS	biological process
GO:0060541	respiratory system development	ISS	biological process
GO:0071773	cellular response to BMP stimulus	ISS	biological process
GO:0003360	brainstem development	IEP	biological process
GO:0010001	glial cell differentiation	ISS	biological process
GO:0021723	medullary reticular formation development	ISS	biological process
GO:0021934	hindbrain tangential cell migration	ISS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0048483	autonomic nervous system development	IMP	biological process
GO:0048484	enteric nervous system development	IEP	biological process
GO:0048485	sympathetic nervous system development	ISS	biological process
GO:0048486	parasympathetic nervous system development	ISS	biological process
GO:0048839	inner ear development	ISS	biological process
GO:0061452	retrotrapezoid nucleus neuron differentiation	ISS	biological process
GO:0071542	dopaminergic neuron differentiation	ISS	biological process
GO:1901166	neural crest cell migration involved in autonomic nervous system development	ISS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0120162	positive regulation of cold-induced thermogenesis	ISS	biological process

Diseases

Associated diseases	References
Congenital central hypoventilation syndrome	KEGG:H00916
Congenital central hypoventilation syndrome	KEGG:H00916
Congenital central hypoventilation syndrome	PMID:24799442
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)