Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 401
MIM: 602753
HGNC: 691
Ensembl: ENSG00000165462
Variants:
dbSNP: 401
ClinVar: 401
TCGA: ENSG00000165462
COSMIC: PHOX2A
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000165462 | ENST00000298231 | O14813 |
| ENSG00000165462 | ENST00000546310 | H0YGU5 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 31541710 | 2019 | Outcomes of strabismus surgery in genetically confirmed congenital fibrosis of the extraocular muscles. | 3 |
| 31541710 | 2019 | Outcomes of strabismus surgery in genetically confirmed congenital fibrosis of the extraocular muscles. | 3 |
| 26902400 | 2016 | PHOX2A and PHOX2B are differentially regulated during retinoic acid-driven differentiation of SK-N-BE(2)C neuroblastoma cell line. | 7 |
| 26902400 | 2016 | PHOX2A and PHOX2B are differentially regulated during retinoic acid-driven differentiation of SK-N-BE(2)C neuroblastoma cell line. | 7 |
| 22170461 | 2012 | Phenotype-phenotype and genotype-phenotype correlations in patients with idiopathic superior oblique muscle palsy. | 7 |
| 22311481 | 2012 | [Identification of a novel PHOX2A gene mutation in a Chinese family with congenital fibrosis of extraocular muscles type 2]. | 1 |
| 22170461 | 2012 | Phenotype-phenotype and genotype-phenotype correlations in patients with idiopathic superior oblique muscle palsy. | 7 |
| 22311481 | 2012 | [Identification of a novel PHOX2A gene mutation in a Chinese family with congenital fibrosis of extraocular muscles type 2]. | 1 |
| 19212675 | 2009 | The Phox2 pathway is differentially expressed in neuroblastoma tumors, but no mutations were found in the candidate tumor suppressor gene PHOX2A. | 12 |
| 19573018 | 2009 | Effects of transcription factors Phox2 on expression of norepinephrine transporter and dopamine beta-hydroxylase in SK-N-BE(2)C cells. | 8 |
| 19852579 | 2009 | Mutations in KIF21A and PHOX2A are absent in 16 patients with congenital vertical incomitant strabismus. | 4 |
| 19212675 | 2009 | The Phox2 pathway is differentially expressed in neuroblastoma tumors, but no mutations were found in the candidate tumor suppressor gene PHOX2A. | 12 |
| 19573018 | 2009 | Effects of transcription factors Phox2 on expression of norepinephrine transporter and dopamine beta-hydroxylase in SK-N-BE(2)C cells. | 8 |
| 19852579 | 2009 | Mutations in KIF21A and PHOX2A are absent in 16 patients with congenital vertical incomitant strabismus. | 4 |
| 18323871 | 2008 | Clinical features, ARIX and PHOX2B nucleotide changes in three families with congenital superior oblique muscle palsy. | 0 |
Citation
Dessen P
PHOX2A (paired like homeobox 2A)
Atlas Genet Cytogenet Oncol Haematol. 2009-09-01
Online version: http://atlasgeneticsoncology.org/gene/51122/phox2a
