PHOX2B
Sign in to saveAlso known as NBLST2, NBPhox, PMX2B, paired like homeobox 2b, CCHS
Gen der Spezies Homo sapiens
Gene data
PHOX2B- Name
- paired like homeobox 2B
- Type
- protein-coding
- Position
- 41,744,082–41,748,887 (−)
- 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
Molecular function
Cellular component
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
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 9 more facts
- HomoloGene ID
- 68371
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/8929
- genomic end
- 41748725
- genomic start
- 41746099
- chromosome
- human chromosome 4
- cytogenetic location
- 4p13
- genetic association
- congenital central hypoventilation syndrome
- expressed in
- duodenum
via Wikidata · CC0