PHOX2B

Also known as NBLST2, NBPhox, PMX2B, paired like homeobox 2b, CCHS

Paired-like homeobox 2b (PHOX2B), also known as neuroblastoma Phox (NBPhox), is a protein that in humans is encoded by the PHOX2B gene located on chromosome 4.

Gene data

PHOX2B

Name: paired like homeobox 2B
Type: protein-coding
Position: 41,744,082–41,748,725 (−)
Aliases: CCHS, NBLST2, NBPhox, PMX2B
Ensembl: ENSG00000109132
RefSeq RNA: NM_003924.4
RefSeq protein: NP_003915.2

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].

Gene Ontology

Biological process

neuron migration regulation of respiratory gaseous exchange by nervous system process regulation of respiratory gaseous exchange by nervous system process noradrenergic neuron differentiation noradrenergic neuron differentiation noradrenergic neuron development noradrenergic neuron development brainstem development

Molecular function

RNA polymerase II transcription regulatory region sequence-specific DNA binding RNA polymerase II transcription regulatory region sequence-specific DNA binding RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription activator activity, RNA polymerase II-specific DNA-binding transcription activator activity, RNA polymerase II-specific

Cellular component

chromatin chromatin nucleus nucleus nucleoplasm

Pathways

Neural Crest Differentiation Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways

via MyGene.info

Gene · Ensembl

paired like homeobox 2B

Symbol: PHOX2B
Biotype: Protein coding
Organism: Homo sapiens
Location: 4:41,744,082-41,748,887
Strand: Reverse (−)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Show 5 more facts

HomoloGene ID: 68371
exact match: identifiers.org/ncbigene/8929
genomic end: 41748725
genomic start: 41746099
cytogenetic location: 4p13

Sources (4)

via Wikidata · CC0

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Article

7 sections

Contents

Immunohistochemistry
Pathology
Research
See also
References
Further reading
External links

Paired-like homeobox 2b (PHOX2B), also known as neuroblastoma Phox (NBPhox), is a protein that in humans is encoded by the PHOX2B gene located on chromosome 4.

It codes for a homeodomain transcription factor. It is expressed exclusively in the nervous system, in most neurons that control the viscera (cardiovascular, digestive and respiratory systems). It is also required for their differentiation.