Entrez Gene

General information | Expression | Regulation | Mutation | Interaction

Basic Information
Gene ID	401
Name	PHOX2A
Synonymous	ARIX\|CFEOM2\|FEOM2\|NCAM2\|PMX2A;paired-like homeobox 2a;PHOX2A;paired-like homeobox 2a
Definition	ARIX1 homeodomain protein\|aristaless homeobox homolog\|aristaless homeobox protein homolog\|arix homeodomain protein\|paired mesoderm homeobox protein 2A
Position	11q13.2
Gene type	protein-coding
Source	Count: 1; Generif
Sentence	Abstract
"PHOX2A gene, localized in a tumor suppressor candidate region at 11q, weas screened for mutations by DNA sequencing in 47 tumors of different stages."	Neuroblastoma (NB), a tumor of the sympathetic nervous system, is the most common solid tumor in childhood. By microarray expression analysis (Affymetrix HU133A) important players in the noradrenalin biosynthesis pathway (DBH, DDC, GATA2, GATA3, PHOX2A, PHOX2B, SLC6A2 SLC18A1 and TH) were found to be among the top ranked genes in showing lower expression in unfavorable NB tumor types as compared to favorable ones. By quantitative PCR with TaqMan, this result was significantly verified for all transcripts (p<0.05, one-tailed) in a new set of 11 primary NB tumors (5 favorable vs. 6 unfavorable). PHOX2A, a downstream target of Phox2b, was found to be the sixth ranked gene from the microarray gene list. Since the PHOX2A gene is localized in a tumor suppressor candidate region at 11q, we screened this gene for mutations by DNA sequencing in 47 tumors of different stages. However, no critical changes were found that could support its role in tumor development or progression. Overall, the findings in this study either suggest that expression of this pathway could be a predictive differentiation marker of NB tumors, or our results could also imply that the noradrenalin biosynthesis pathway is involved in tumor pathogenesis.