PHOX2A

The protein encoded by this gene contains a paired-like homeodomain most similar to that of the Drosophila aristaless gene product. This protein is expressed specifically in noradrenergic cell types. It regulates the expression of tyrosine hydroxylase and dopamine beta-hydroxylase, two catecholaminergic biosynthetic enzymes essential for the differentiation and maintenance of noradrenergic phenotype. Mutations in this gene have been associated with autosomal recessive congenital fibrosis of the extraocular muscles (CFEOM2).

PHOX2A has been shown to interact with HAND2.{{cite journal | vauthors = Rychlik JL, Gerbasi V, Lewis EJ | title = The interaction between dHAND and Arix at the dopamine beta-hydroxylase promoter region is independent of direct dHAND binding to DNA | journal = J. Biol. Chem. | volume = 278 | issue = 49 | pages = 49652–60 | date = Dec 2003 | pmid = 14506227 | doi = 10.1074/jbc.M308577200 | doi-access = free }}

PHOX2B

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• {{cite journal | vauthors = Brunet JF, Pattyn A | title = Phox2 genes - from patterning to connectivity | journal = Curr. Opin. Genet. Dev. | volume = 12 | issue = 4 | pages = 435–40 | year = 2002 | pmid = 12100889 | doi = 10.1016/S0959-437X(02)00322-2 }}
• {{cite journal | vauthors = Merscher S, Bekri S, de Leeuw B, Pedeutour F, Grosgeorge J, Shows TB, Müllenbach R, Le Paslier D, Nowak NJ, Gaudray P | title = A 5.5-Mb high-resolution integrated map of distal 11q13 | journal = Genomics | volume = 39 | issue = 3 | pages = 340–7 | year = 1997 | pmid = 9119371 | doi = 10.1006/geno.1996.4460 }}
• {{cite journal | vauthors = Swanson DJ, Zellmer E, Lewis EJ | title = The homeodomain protein Arix interacts synergistically with cyclic AMP to regulate expression of neurotransmitter biosynthetic genes | journal = J. Biol. Chem. | volume = 272 | issue = 43 | pages = 27382–92 | year = 1997 | pmid = 9341190 | doi = 10.1074/jbc.272.43.27382 | doi-access = free }}
• {{cite journal | vauthors = Wang SM, Zwaan J, Mullaney PB, Jabak MH, Al-Awad A, Beggs AH, Engle EC | title = Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13 | journal = Am. J. Hum. Genet. | volume = 63 | issue = 2 | pages = 517–25 | year = 1998 | pmid = 9683611 | pmc = 1377321 | doi = 10.1086/301980 }}
• {{cite journal | vauthors = Swanson DJ, Adachi M, Lewis EJ | title = The homeodomain protein Arix promotes protein kinase A-dependent activation of the dopamine beta-hydroxylase promoter through multiple elements and interaction with the coactivator cAMP-response element-binding protein-binding protein | journal = J. Biol. Chem. | volume = 275 | issue = 4 | pages = 2911–23 | year = 2000 | pmid = 10644760 | doi = 10.1074/jbc.275.4.2911 | doi-access = free }}
• {{cite journal | vauthors = Flora A, Lucchetti H, Benfante R, Goridis C, Clementi F, Fornasari D | title = Sp proteins and Phox2b regulate the expression of the human Phox2a gene | journal = J. Neurosci. | volume = 21 | issue = 18 | pages = 7037–45 | year = 2001 | pmid = 11549713 | doi = 10.1523/jneurosci.21-18-07037.2001 | pmc = 6763013}}
• {{cite journal | vauthors = Strømme P, Mangelsdorf ME, Shaw MA, Lower KM, Lewis SM, Bruyere H, Lütcherath V, Gedeon AK, Wallace RH, Scheffer IE, Turner G, Partington M, Frints SG, Fryns JP, Sutherland GR, Mulley JC, Gécz J |authorlink15=Grant Robert Sutherland | title = Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy | journal = Nat. Genet. | volume = 30 | issue = 4 | pages = 441–5 | year = 2002 | pmid = 11889467 | doi = 10.1038/ng862 | s2cid = 12822090 }}
• {{cite journal | vauthors = Adachi M, Lewis EJ | title = The paired-like homeodomain protein, Arix, mediates protein kinase A-stimulated dopamine beta-hydroxylase gene transcription through its phosphorylation status | journal = J. Biol. Chem. | volume = 277 | issue = 25 | pages = 22915–24 | year = 2002 | pmid = 11943777 | doi = 10.1074/jbc.M201695200 | doi-access = free }}
• {{cite journal | vauthors = Rychlik JL, Gerbasi V, Lewis EJ | title = The interaction between dHAND and Arix at the dopamine beta-hydroxylase promoter region is independent of direct dHAND binding to DNA | journal = J. Biol. Chem. | volume = 278 | issue = 49 | pages = 49652–60 | year = 2003 | pmid = 14506227 | doi = 10.1074/jbc.M308577200 | doi-access = free }}
• {{cite journal | vauthors = Sasaki A, Kanai M, Kijima K, Akaba K, Hashimoto M, Hasegawa H, Otaki S, Koizumi T, Kusuda S, Ogawa Y, Tuchiya K, Yamamoto W, Nakamura T, Hayasaka K | title = Molecular analysis of congenital central hypoventilation syndrome | journal = Hum. Genet. | volume = 114 | issue = 1 | pages = 22–6 | year = 2003 | pmid = 14566559 | doi = 10.1007/s00439-003-1036-z | s2cid = 24588298 }}
• {{cite journal | vauthors = Yazdani A, Chung DC, Abbaszadegan MR, Al-Khayer K, Chan WM, Yazdani M, Ghodsi K, Engle EC, Traboulsi EI | title = A novel PHOX2A/ARIX mutation in an Iranian family with congenital fibrosis of extraocular muscles type 2 (CFEOM2) | journal = Am. J. Ophthalmol. | volume = 136 | issue = 5 | pages = 861–5 | year = 2003 | pmid = 14597037 | doi = 10.1016/S0002-9394(03)00891-2 }}
• {{cite journal | vauthors = Jiang Y, Matsuo T, Fujiwara H, Hasebe S, Ohtsuki H, Yasuda T | title = ARIX and PHOX2B polymorphisms in patients with congenital superior oblique muscle palsy | journal = Acta Med. Okayama | volume = 59 | issue = 2 | pages = 55–62 | year = 2005 | pmid = 16049556 }}
• {{cite journal | vauthors = Bachetti T, Borghini S, Ravazzolo R, Ceccherini I | title = An in vitro approach to test the possible role of candidate factors in the transcriptional regulation of the RET proto-oncogene | journal = Gene Expr. | volume = 12 | issue = 3 | pages = 137–49 | year = 2005 | pmid = 16127999 | doi = 10.3727/000000005783992106 | doi-broken-date = 5 February 2025 | pmc = 6009117 }}
• {{cite journal | vauthors = Hsieh MM, Lupas G, Rychlik J, Dziennis S, Habecker BA, Lewis EJ | title = ERK1/2 is a negative regulator of homeodomain protein Arix/Phox2a | journal = J. Neurochem. | volume = 94 | issue = 6 | pages = 1719–27 | year = 2005 | pmid = 16156742 | doi = 10.1111/j.1471-4159.2005.03333.x | s2cid = 2985635 | doi-access = free }}
• {{cite journal | vauthors = Rychlik JL, Hsieh M, Eiden LE, Lewis EJ | title = Phox2 and dHAND transcription factors select shared and unique target genes in the noradrenergic cell type | journal = J. Mol. Neurosci. | volume = 27 | issue = 3 | pages = 281–92 | year = 2005 | pmid = 16280598 | doi = 10.1385/JMN:27:3:281 | s2cid = 1021814 }}

{{refend}}

• [https://web.archive.org/web/20100306000036/http://www.childrenshospital.org/cfapps/research/data_admin/Site339/mainpageS339P18sublevel13.html Engle Laboratory CFEOM page]
• [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=cfeom GeneReviews/NCBI/NIH/UW entry on Congenital Fibrosis of the Extraocular Muscles]
• [https://www.ncbi.nlm.nih.gov/omim/135700,600638,602078,602661,602753,608283,609384,609428 OMIM entries on Congenital Fibrosis of the Extraocular Muscles]
• {{MeshName|PHOX2A+protein,+human}}

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{{Transcription factors|g3}}

Category:Transcription factors

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