PHOX2A (paired like homeobox 2A)

2009-09-01  

Identity

HGNC
LOCATION
11q13.4
LOCUSID
ALIAS
ARIX,CFEOM2,FEOM2,NCAM2,PMX2A

Other Information

Locus ID:

NCBI: 401
MIM: 602753
HGNC: 691
Ensembl: ENSG00000165462

Variants:

dbSNP: 401
ClinVar: 401
TCGA: ENSG00000165462
COSMIC: PHOX2A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000165462ENST00000298231O14813
ENSG00000165462ENST00000546310H0YGU5

Expression (GTEx)

0
1
2
3

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
118894672002Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.96
152408572004Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development.17
173442162007Transcription factor PHOX2A regulates the human alpha3 nicotinic receptor subunit gene promoter.13
175847652007An ancestral variant of Secretogranin II confers regulation by PHOX2 transcription factors and association with hypertension.13
192126752009The Phox2 pathway is differentially expressed in neuroblastoma tumors, but no mutations were found in the candidate tumor suppressor gene PHOX2A.11
145970372003A novel PHOX2A/ARIX mutation in an Iranian family with congenital fibrosis of extraocular muscles type 2 (CFEOM2).8
189493612008PHOX2A and PHOX2B genes are highly co-expressed in human neuroblastoma.8
161279992005An in vitro approach to test the possible role of candidate factors in the transcriptional regulation of the RET proto-oncogene.7
162805982005Phox2 and dHAND transcription factors select shared and unique target genes in the noradrenergic cell type.7
119437772002The paired-like homeodomain protein, Arix, mediates protein kinase A-stimulated dopamine beta-hydroxylase gene transcription through its phosphorylation status.5

Citation

Dessen P

PHOX2A (paired like homeobox 2A)

Atlas Genet Cytogenet Oncol Haematol. 2009-09-01

Online version: http://atlasgeneticsoncology.org/gene/51122/phox2a