PHOX2B Chromosome 4
Paired like homeobox 2B
Upload your DNA to see your personal genotypes for variants in PHOX2B.
What This Gene Does
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 Info
Gene Group
PRD class homeoboxes and pseudogenes
Locus Type
gene with protein product
Location
4p13
Ensembl
ENSG00000109132
Associated Conditions (14)
Neuroblastoma
susceptibility to
2
Haddad syndrome
Hereditary cancer-predisposing syndrome
Congenital central hypoventilation
PHOX2B-related disorder
Central hypoventilation syndrome
congenital
1
with or without Hirschsprung disease
Aganglionic megacolon
Congenital central hypoventilation syndrome
Hirschsprung disease-ganglioneuroblastoma syndrome
Key Variants
RS104893855
Conflicting classifications of pathogenicity
Neuroblastoma, susceptibility to, 2
Health Risk
RS1060501120
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Haddad syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1183113572
Conflicting classifications of pathogenicity
Haddad syndrome, Hereditary cancer-predisposing syndrome, Haddad syndrome
Health Risk
RS1260084723
Conflicting classifications of pathogenicity
Haddad syndrome, Hereditary cancer-predisposing syndrome, Neuroblastoma
Health Risk
RS138545772
Conflicting classifications of pathogenicity
Congenital central hypoventilation, Hereditary cancer-predisposing syndrome, Neuroblastoma
Health Risk
RS144414806
Conflicting classifications of pathogenicity
Haddad syndrome, Hereditary cancer-predisposing syndrome, Haddad syndrome
Health Risk
RS1462979811
Conflicting classifications of pathogenicity
Haddad syndrome, Hereditary cancer-predisposing syndrome, Haddad syndrome
Health Risk
RS1553898065
Conflicting classifications of pathogenicity
Haddad syndrome, Neuroblastoma, susceptibility to
Health Risk
RS1560466246
Conflicting classifications of pathogenicity
Congenital central hypoventilation, Congenital central hypoventilation
Health Risk
RS1733890628
Conflicting classifications of pathogenicity
Haddad syndrome, Hereditary cancer-predisposing syndrome, Haddad syndrome
Health Risk
RS2153112725
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Haddad syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS2153112821
Conflicting classifications of pathogenicity
Congenital central hypoventilation, Hereditary cancer-predisposing syndrome, Congenital central hypoventilation
Health Risk
All Variants (108)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2552096861 | Health Risk | Likely pathogenic | Central hypoventilation syndrome, congenital, 1 |
| RS2552096878 | Health Risk | Likely pathogenic | — |
| RS2552097008 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2552097023 | Health Risk | Likely pathogenic | Central hypoventilation syndrome, congenital, 1 |
| RS2552097163 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1297909281 | Health Risk | Pathogenic | Haddad syndrome, Haddad syndrome |
| RS1310852326 | Health Risk | Pathogenic | Haddad syndrome, Haddad syndrome |
| RS1553897738 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Neuroblastoma, susceptibility to |
| RS1553897780 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1560465524 | Health Risk | Pathogenic | — |
| RS1733868277 | Health Risk | Pathogenic | Neuroblastoma, susceptibility to, 2 |
| RS1733874227 | Health Risk | Pathogenic | — |
| RS1733876864 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1733878065 | Health Risk | Pathogenic | Congenital central hypoventilation, PHOX2B-related disorder, Hereditary cancer-predisposing syndrome |
| RS1733881278 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, PHOX2B-related disorder, Hereditary cancer-predisposing syndrome |
| RS1733894573 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1733947320 | Health Risk | Pathogenic | Congenital central hypoventilation, Hereditary cancer-predisposing syndrome, Congenital central hypoventilation |
| RS17879189 | Health Risk | Pathogenic | Neuroblastoma, susceptibility to, 2 |
| RS2153113037 | Health Risk | Pathogenic | Congenital central hypoventilation, Congenital central hypoventilation |
| RS2153113084 | Health Risk | Pathogenic | Haddad syndrome, Hereditary cancer-predisposing syndrome, Haddad syndrome |
| RS2552096752 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2552096778 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2552096795 | Health Risk | Pathogenic | Neuroblastoma, susceptibility to, 2 |
| RS2552096799 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, PHOX2B-related disorder, Hereditary cancer-predisposing syndrome |
| RS2552096800 | Health Risk | Pathogenic | Neuroblastoma, susceptibility to, 2 |
| RS2552096804 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2552096826 | Health Risk | Pathogenic | PHOX2B-related disorder, PHOX2B-related disorder |
| RS2552096829 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2552096835 | Health Risk | Pathogenic | PHOX2B-related disorder, PHOX2B-related disorder |
| RS2552096836 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2552096838 | Health Risk | Pathogenic | Hirschsprung disease-ganglioneuroblastoma syndrome, Hereditary cancer-predisposing syndrome, Hirschsprung disease-ganglioneuroblastoma syndrome |
| RS2552096841 | Health Risk | Pathogenic | Central hypoventilation syndrome, congenital, 1 |
| RS2552096877 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2552096897 | Health Risk | Pathogenic | Haddad syndrome, Haddad syndrome |
| RS2552096903 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2552097009 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2552097010 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2552097014 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2552097167 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2552097168 | Health Risk | Pathogenic | Haddad syndrome, Haddad syndrome |
| RS2552097175 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS28939716 | Health Risk | Pathogenic | Hirschsprung disease-ganglioneuroblastoma syndrome, Hirschsprung disease-ganglioneuroblastoma syndrome |
| RS587776626 | Health Risk | Pathogenic | Congenital central hypoventilation, Haddad syndrome, Congenital central hypoventilation |
| RS73810366 | Health Risk | Pathogenic | Haddad syndrome, Congenital central hypoventilation, Hereditary cancer-predisposing syndrome |
| RS749694204 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS754725361 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS757020181 | Health Risk | Pathogenic | Congenital central hypoventilation, Hereditary cancer-predisposing syndrome, PHOX2B-related disorder |
| RS757850760 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS761018157 | Health Risk | Pathogenic | Congenital central hypoventilation, Hereditary cancer-predisposing syndrome, PHOX2B-related disorder |
| RS775006915 | Health Risk | Pathogenic | Congenital central hypoventilation, Hereditary cancer-predisposing syndrome, Congenital central hypoventilation |