Property Summary

NCBI Gene PubMed Count 32
Grant Count 56
R01 Count 54
Funding $5,035,277.65
PubMed Score 57.66
PubTator Score 50.53

Knowledge Summary

Patent

No data available

Synonym

Accession O14813 A8K3N0 Q8IVZ2
Symbols ARIX
FEOM2
NCAM2
PMX2A
CFEOM2

Gene

 GO Component (1)

Gene RIF (19)

PMID Text
26902400 PHOX2A expression is finely controlled during retinoic acid differentiation and this, together with PHOX2B down-regulation.
22311481 Genetic linkage was found at 11q13 between D11S4151 and D11S1320 and the PHOX2A gene.
22170461 Patients with ARIX and/or PHOX2B polymorphisms had less hypoplastic superior oblique muscles.
19852579 Our 16-patient sample suggests that KIF21A and PHOX2A sequence variation does not have a role in common forms of congenital incomitant vertical strabismus.
19573018 Transfection of Phox2a cDNA significantly increases mRNA and protein levels of norepinephrine transporter and dopamine beta-hydroxylase.
19212675 PHOX2A gene, localized in a tumor suppressor candidate region at 11q, weas screened for mutations by DNA sequencing in 47 tumors of different stages.
18949361 PHOX2A and PHOX2B genes are highly co-expressed in human neuroblastoma.
18323871 The ARIX 153G>A polymorphism might be a genetic risk factor for the development of congenital superior oblique muscle palsy
17584765 a variant of Secretogranin II has a role in regulation by PHOX2 transcription factors and in hypertension
17505528 PHOX2A, like PHOX2B, is involved in the cascade leading to transcription factor TLX2 transactivation and presumably is involved in intestinal neuronal differentiation.
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AA Sequence

MDYSYLNSYDSCVAAMEASAYGDFGACSQPGGFQYSPLRPAFPAAGPPCPALGSSNCALGALRDHQPAPY      1 - 70
SAVPYKFFPEPSGLHEKRKQRRIRTTFTSAQLKELERVFAETHYPDIYTREELALKIDLTEARVQVWFQN     71 - 140
RRAKFRKQERAASAKGAAGAAGAKKGEARCSSEDDDSKESTCSPTPDSTASLPPPPAPGLASPRLSPSPL    141 - 210
PVALGSGPGPGPGPQPLKGALWAGVAGGGGGGPGAGAAELLKAWQPAESGPGPFSGVLSSFHRKPGPALK    211 - 280
TNLF                                                                      281 - 284
//

Text Mined References (32)

PMID Year Title
26902400 2016 PHOX2A and PHOX2B are differentially regulated during retinoic acid-driven differentiation of SK-N-BE(2)C neuroblastoma cell line.
22311481 2012 [Identification of a novel PHOX2A gene mutation in a Chinese family with congenital fibrosis of extraocular muscles type 2].
22170461 2012 Phenotype-phenotype and genotype-phenotype correlations in patients with idiopathic superior oblique muscle palsy.
19852579 2009 Mutations in KIF21A and PHOX2A are absent in 16 patients with congenital vertical incomitant strabismus.
19573018 2009 Effects of transcription factors Phox2 on expression of norepinephrine transporter and dopamine beta-hydroxylase in SK-N-BE(2)C cells.
19212675 2009 The Phox2 pathway is differentially expressed in neuroblastoma tumors, but no mutations were found in the candidate tumor suppressor gene PHOX2A.
18949361 2008 PHOX2A and PHOX2B genes are highly co-expressed in human neuroblastoma.
18323871 2008 Clinical features, ARIX and PHOX2B nucleotide changes in three families with congenital superior oblique muscle palsy.
17584765 2007 An ancestral variant of Secretogranin II confers regulation by PHOX2 transcription factors and association with hypertension.
17505528 2007 Transcriptional regulation of TLX2 and impaired intestinal innervation: possible role of the PHOX2A and PHOX2B genes.
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