Gene: PHOX2B

Alternate names for this Gene: CCHS|NBLST2|NBPhox|PMX2B

Gene Summary: 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.

Gene is located in Chromosome: 4

Location in Chromosome : 4p13

Description of this Gene: paired like homeobox 2B

Type of Gene: protein-coding

rs772448418 in PHOX2B gene and Congenital central hypoventilation PMID 20208042 2010 An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management.

PMID 14608649 2003 Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b.

PMID 12640453 2003 Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.

PMID 14566559 2003 Molecular analysis of congenital central hypoventilation syndrome.

PMID 15334515 2004 PHOX2B gene mutation in a patient with late-onset central hypoventilation.

PMID 26063465 2015 Genotype-phenotype relationship in Japanese patients with congenital central hypoventilation syndrome.

rs1553897738 in PHOX2B gene and Overgrowth PMID 12640453 2003 Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.

PMID 15024693 2004 Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma.

PMID 16888290 2006 Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype.

PMID 28371199 2017 Nonsense pathogenic variants in exon 1 of PHOX2B lead to translational reinitiation in congenital central hypoventilation syndrome.