PHOX2A: Difference between revisions
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Revision as of 20:37, 4 September 2012
| Paired-like (aristaless) homeobox 2a | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||
| Symbols | PHOX2A ; ARIX; CFEOM2; FEOM2; MGC52227; NCAM2; PMX2A | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 31296 | ||||||||||
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| RNA expression pattern | |||||||||||
| File:PBB GE PHOX2A 214609 at tn.png | |||||||||||
| More reference expression data | |||||||||||
| Orthologs | |||||||||||
| Template:GNF Ortholog box | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | n/a | n/a | |||||||||
| Ensembl | n/a | n/a | |||||||||
| UniProt | n/a | n/a | |||||||||
| RefSeq (mRNA) | n/a | n/a | |||||||||
| RefSeq (protein) | n/a | n/a | |||||||||
| Location (UCSC) | n/a | n/a | |||||||||
| PubMed search | n/a | n/a | |||||||||
Paired-like (aristaless) homeobox 2a, also known as PHOX2A, is a human gene.[1]
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).[1]
References
Further reading
- Brunet JF, Pattyn A (2003). "Phox2 genes - from patterning to connectivity". Curr. Opin. Genet. Dev. 12 (4): 435–40. PMID 12100889.
- Johnson KR, Smith L, Johnson DK; et al. (1996). "Mapping of the ARIX homeodomain gene to mouse chromosome 7 and human chromosome 11q13". Genomics. 33 (3): 527–31. doi:10.1006/geno.1996.0230. PMID 8661014.
- Merscher S, Bekri S, de Leeuw B; et al. (1997). "A 5.5-Mb high-resolution integrated map of distal 11q13". Genomics. 39 (3): 340–7. PMID 9119371.
- Swanson DJ, Zellmer E, Lewis EJ (1997). "The homeodomain protein Arix interacts synergistically with cyclic AMP to regulate expression of neurotransmitter biosynthetic genes". J. Biol. Chem. 272 (43): 27382–92. PMID 9341190.
- Wang SM, Zwaan J, Mullaney PB; et al. (1998). "Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13". Am. J. Hum. Genet. 63 (2): 517–25. PMID 9683611.
- Swanson DJ, Adachi M, Lewis EJ (2000). "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". J. Biol. Chem. 275 (4): 2911–23. PMID 10644760.
- Flora A, Lucchetti H, Benfante R; et al. (2001). "Sp proteins and Phox2b regulate the expression of the human Phox2a gene". J. Neurosci. 21 (18): 7037–45. PMID 11549713.
- Nakano M, Yamada K, Fain J; et al. (2001). "Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2". Nat. Genet. 29 (3): 315–20. doi:10.1038/ng744. PMID 11600883.
- Strømme P, Mangelsdorf ME, Shaw MA; et al. (2002). "Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy". Nat. Genet. 30 (4): 441–5. doi:10.1038/ng862. PMID 11889467.
- Adachi M, Lewis EJ (2002). "The paired-like homeodomain protein, Arix, mediates protein kinase A-stimulated dopamine beta-hydroxylase gene transcription through its phosphorylation status". J. Biol. Chem. 277 (25): 22915–24. doi:10.1074/jbc.M201695200. PMID 11943777.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
- Rychlik JL, Gerbasi V, Lewis EJ (2004). "The interaction between dHAND and Arix at the dopamine beta-hydroxylase promoter region is independent of direct dHAND binding to DNA". J. Biol. Chem. 278 (49): 49652–60. doi:10.1074/jbc.M308577200. PMID 14506227.
- Sasaki A, Kanai M, Kijima K; et al. (2004). "Molecular analysis of congenital central hypoventilation syndrome". Hum. Genet. 114 (1): 22–6. doi:10.1007/s00439-003-1036-z. PMID 14566559.
- Yazdani A, Chung DC, Abbaszadegan MR; et al. (2003). "A novel PHOX2A/ARIX mutation in an Iranian family with congenital fibrosis of extraocular muscles type 2 (CFEOM2)". Am. J. Ophthalmol. 136 (5): 861–5. PMID 14597037.
- Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
- Jiang Y, Matsuo T, Fujiwara H; et al. (2006). "ARIX and PHOX2B polymorphisms in patients with congenital superior oblique muscle palsy". Acta Med. Okayama. 59 (2): 55–62. PMID 16049556.
- Bachetti T, Borghini S, Ravazzolo R, Ceccherini I (2006). "An in vitro approach to test the possible role of candidate factors in the transcriptional regulation of the RET proto-oncogene". Gene Expr. 12 (3): 137–49. PMID 16127999.
- Hsieh MM, Lupas G, Rychlik J; et al. (2005). "ERK1/2 is a negative regulator of homeodomain protein Arix/Phox2a". J. Neurochem. 94 (6): 1719–27. doi:10.1111/j.1471-4159.2005.03333.x. PMID 16156742.
- Rychlik JL, Hsieh M, Eiden LE, Lewis EJ (2006). "Phox2 and dHAND transcription factors select shared and unique target genes in the noradrenergic cell type". J. Mol. Neurosci. 27 (3): 281–92. PMID 16280598.
External links
- PHOX2A+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.