PHOX2B

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]

Description

paired like homeobox 2B

Protein family

Cancer-related genes, Disease related genes, Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Predicted intracellular proteins, Protein evidence (Peptideatlas), Transcription factors

Chromosome

4:p13 (41744082 - 41748725)

Ensembl ID

ENSG00000109132  (ver. 99.38)

Orthologs

Mouse Phox2b: ENSMUSG00000012520

UniProt

Q99453

neXtProt

NX_Q99453

Human splice variants
Mouse splice variants