Property Summary

NCBI Gene PubMed Count 113
PubMed Score 289.68
PubTator Score 262.67

Knowledge Summary


No data available


Accession Q99453 Q6PJD9
Symbols PMX2B


  Ortholog (8)

 GO Component (1)

Gene RIF (105)

27129232 PHOX2B forms homodimers and heterodimerizes weakly with mutated proteins, excluding the direct involvement of the polyalanine tract in dimer formation, indicating that mutated proteins retain partial ability to form heterodimers with PHOX2A.
26902400 PHOX2A expression is finely controlled during retinoic acid differentiation and this, together with PHOX2B down-regulation.
26521743 Expression of NOX4/p22(phox) as well as ROS production is enhanced by IL-1beta. On the other hand, the use of NOX4 inhibitors decreased IL-1beta-induced collagenase synthesis by chondrocytes.
26375764 Germline non-polyalanine repeat expansion mutations in PHOX2B (PHOX2B NPARM) predispose to peripheral neuroblastic tumors (PNT), frequently in association with other neurocristopathies.
26145533 Post-transcriptional down-regulation of the PHOX2B gene takes place in NB cell lines and miRNA-204 participates in such a 3'UTR mediated control.
26063465 Molecular diagnosis provides a definitive diagnosis and enables to receive appropriate ventilator support to infant diagnosed with congenital central hypoventilation syndrome and PHOX2B mutations.
25975378 Results indicate that early-onset mutant PHOX2B expression inhibits locus coeruleus neuronal development in congenital central hypoventilation syndrome
25822764 Data indicate that transcription factor PHOX2B is specific for neuroblastoma (NB) in its differential diagnosis with other small round cell tumors.
25319843 The paired-like homeobox 2B (Phox2b) gene is a transcription factor which is crucial to the development of autonomic nervous system reflex pathways.
25085640 Absence of PHOX2B polyalanine repeat expansion alleles or point mutations in 68 Australian cases of sudden unexpected death in epilepsy (SUDEP) shows that PHOX2B mutations are not a common risk factor for SUDEP

AA Sequence

TSIPDSLGGPFASVLSSLQRPNGAKAALVKSSMF                                        281 - 314

Text Mined References (111)

PMID Year Title
27129232 2016 Alanine Expansions Associated with Congenital Central Hypoventilation Syndrome Impair PHOX2B Homeodomain-mediated Dimerization and Nuclear Import.
26902400 2016 PHOX2A and PHOX2B are differentially regulated during retinoic acid-driven differentiation of SK-N-BE(2)C neuroblastoma cell line.
26521743 2015 IL-1beta mediates MMP secretion and IL-1beta neosynthesis via upregulation of p22(phox) and NOX4 activity in human articular chondrocytes.
26375764 2016 Oncologic Phenotype of Peripheral Neuroblastic Tumors Associated With PHOX2B Non-Polyalanine Repeat Expansion Mutations.
26145533 2015 miR-204 mediates post-transcriptional down-regulation of PHOX2B gene expression in neuroblastoma cells.
26063465 2015 Genotype-phenotype relationship in Japanese patients with congenital central hypoventilation syndrome.
25975378 2015 Dysregulation of locus coeruleus development in congenital central hypoventilation syndrome.
25822764 2015 Diagnostic utility of PHOX2B in primary and treated neuroblastoma and in neuroblastoma metastatic to the bone marrow.
25319843 2014 Congenital central hypoventilation syndrome and carbon dioxide sensitivity.
25085640 2014 Genetic analysis of PHOX2B in sudden unexpected death in epilepsy cases.