PHOX2B Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | PHOX2B |
| Official Name | paired like homeobox 2B [Source:HGNC Symbol;Acc:HGNC:9143] |
| Ensembl ID | ENSG00000109132 |
| Bio databases IDs | |
| Aliases | paired like homeobox 2B |
| Synonyms | CCHS, DILP1, NBLST2, NBPhox, paired like homeobox 2B, PMX2B, Px2b |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PHOX2B often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- nucleic acid binding
- double-stranded DNA binding
- protein binding
- sequence-specific DNA binding
- homeodomain
- polyalanine repeat
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cancer
- neuroblastoma
- hereditary cancer-predisposing syndrome
- neuroblastoma formation
- congenital central hypoventilation syndrome 1
- congenital central hypoventilation syndrome
- schizophrenia
- Haddad syndrome
- susceptibility to neuroblastoma type 2
- Alzheimer disease
role in cell
- apoptosis
- cell death
- expression in
- survival
- loss
- proliferation
- formation
- generation
- differentiation
- development
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PHOX2B gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- respiratory system development
- inner ear development
- hindbrain tangential cell migration
- negative regulation of neuron differentiation
- cell differentiation in hindbrain
- positive regulation of neuron differentiation
- regulation of respiratory gaseous exchange by neurological system process
- positive regulation of transcription from RNA polymerase II promoter
- sympathetic nervous system development
- enteric nervous system development
- neuron migration
- autonomic nervous system development
- skeletal muscle cell differentiation
- cellular response to BMP stimulus
- type B pancreatic cell proliferation
- parasympathetic nervous system development
- positive regulation of G2/M transition of mitotic cell cycle
- brainstem development
- medullary reticular formation development
- regulation of transcription from RNA polymerase II promoter
- noradrenergic neuron differentiation
- noradrenergic neuron development
- cellular response to carbon dioxide
- dopaminergic neuron differentiation
- efferent axon development in a lateral line nerve
- regulation of gene expression
- response to activity
- membrane depolarization
- glial cell differentiation
Cellular Component
Where in the cell the gene product is active
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity