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PHOX2A
Identifiers
Aliases	PHOX2A, ARIX, CFEOM2, FEOM2, NCAM2, PMX2A, paired like homeobox 2a
External IDs	OMIM: 602753; MGI: 106633; HomoloGene: 31296; GeneCards: PHOX2A; OMA:PHOX2A - orthologs
Gene location (Human) Chr. Chromosome 11 (human) Band 11q13.4 Start 72,239,077 bp End 72,245,664 bp
Gene location (Mouse) Chr. Chromosome 7 (mouse) Band 7 E2|7 54.66 cM Start 101,467,520 bp End 101,471,933 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in testicle gonad muscle layer of sigmoid colon cecum appendix superior vestibular nucleus gastric mucosa right adrenal gland transverse colon muscle tissue Top expressed in superior cervical ganglion external carotid artery enteric nervous system female urethra internal carotid artery adrenal gland epithelium of female urethra parasympathetic nervous system tail of embryo embryo More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA-binding transcription factor activity DNA binding sequence-specific DNA binding RNA polymerase II transcription regulatory region sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus Biological process somatic motor neuron differentiation parasympathetic nervous system development regulation of respiratory gaseous exchange dopaminergic neuron differentiation noradrenergic neuron differentiation locus ceruleus development trochlear nerve formation regulation of transcription, DNA-templated sympathetic nervous system development oculomotor nerve formation transcription, DNA-templated midbrain development positive regulation of transcription by RNA polymerase II nervous system development autonomic nervous system development enteric nervous system development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 401 11859 Ensembl ENSG00000165462 ENSMUSG00000007946 UniProt O14813 Q62066 RefSeq (mRNA) NM_005169 NM_008887 RefSeq (protein) NP_005160 NP_032913 Location (UCSC) Chr 11: 72.24 – 72.25 Mb Chr 7: 101.47 – 101.47 Mb PubMed search
Wikidata
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Paired mesoderm homeobox protein 2A is a protein that in humans is encoded by the PHOX2A gene.

Function

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).

Interactions

PHOX2A has been shown to interact with HAND2.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000165462 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000007946 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Johnson KR, Smith L, Johnson DK, Rhodes J, Rinchik EM, Thayer M, Lewis EJ (Sep 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.
6. Nakano M, Yamada K, Fain J, Sener EC, Selleck CJ, Awad AH, Zwaan J, Mullaney PB, Bosley TM, Engle EC (Nov 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. S2CID 25403574.
7. ^ "Entrez Gene: PHOX2A paired-like (aristaless) homeobox 2a".
8. Rychlik JL, Gerbasi V, Lewis EJ (Dec 2003). "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.

Further reading

• Brunet JF, Pattyn A (2002). "Phox2 genes - from patterning to connectivity". Curr. Opin. Genet. Dev. 12 (4): 435–40. doi:10.1016/S0959-437X(02)00322-2. PMID 12100889.
• Merscher S, Bekri S, de Leeuw B, Pedeutour F, Grosgeorge J, Shows TB, Müllenbach R, Le Paslier D, Nowak NJ, Gaudray P (1997). "A 5.5-Mb high-resolution integrated map of distal 11q13". Genomics. 39 (3): 340–7. doi:10.1006/geno.1996.4460. 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. doi:10.1074/jbc.272.43.27382. PMID 9341190.
• Wang SM, Zwaan J, Mullaney PB, Jabak MH, Al-Awad A, Beggs AH, Engle EC (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. doi:10.1086/301980. PMC 1377321. 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. doi:10.1074/jbc.275.4.2911. PMID 10644760.
• Flora A, Lucchetti H, Benfante R, Goridis C, Clementi F, Fornasari D (2001). "Sp proteins and Phox2b regulate the expression of the human Phox2a gene". J. Neurosci. 21 (18): 7037–45. doi:10.1523/jneurosci.21-18-07037.2001. PMC 6763013. PMID 11549713.
• 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 (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. S2CID 12822090.
• 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.
• Rychlik JL, Gerbasi V, Lewis EJ (2003). "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, Akaba K, Hashimoto M, Hasegawa H, Otaki S, Koizumi T, Kusuda S, Ogawa Y, Tuchiya K, Yamamoto W, Nakamura T, Hayasaka K (2003). "Molecular analysis of congenital central hypoventilation syndrome". Hum. Genet. 114 (1): 22–6. doi:10.1007/s00439-003-1036-z. PMID 14566559. S2CID 24588298.
• Yazdani A, Chung DC, Abbaszadegan MR, Al-Khayer K, Chan WM, Yazdani M, Ghodsi K, Engle EC, Traboulsi EI (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. doi:10.1016/S0002-9394(03)00891-2. PMID 14597037.
• Jiang Y, Matsuo T, Fujiwara H, Hasebe S, Ohtsuki H, Yasuda T (2005). "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 (2005). "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. doi:10.3727/000000005783992106. PMC 6009117. PMID 16127999.
• Hsieh MM, Lupas G, Rychlik J, Dziennis S, Habecker BA, Lewis EJ (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. S2CID 2985635.
• Rychlik JL, Hsieh M, Eiden LE, Lewis EJ (2005). "Phox2 and dHAND transcription factors select shared and unique target genes in the noradrenergic cell type". J. Mol. Neurosci. 27 (3): 281–92. doi:10.1385/JMN:27:3:281. PMID 16280598. S2CID 1021814.

External links

• Engle Laboratory CFEOM page
• GeneReviews/NCBI/NIH/UW entry on Congenital Fibrosis of the Extraocular Muscles
• OMIM entries on Congenital Fibrosis of the Extraocular Muscles
• PHOX2A+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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