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Homo sapiens paired-like homeobox 2a (PHOX2A), mRNA.


RefSeq Accession Definition Services Price Order
NM_005169 Homo sapiens paired-like homeobox 2a (PHOX2A), mRNA. ORF Sequence $247.95
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RefSeq Version NM_005169.3, 188536104
Length 1716 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens paired-like homeobox 2a (PHOX2A), mRNA.
Product paired mesoderm homeobox protein 2A
Comment

Summary: The protein encoded by this gene contains a paired-like homeodomain most similar to that of the Drosophila aristaless gene product. The encoded protein plays a central role in development of the autonomic nervous system. It regulates the expression of tyrosine hydroxylase and dopamine beta-hydroxylase, two catecholaminergic biosynthetic enzymes essential for the differentiation and maintenance of the noradrenergic neurotransmitter phenotype. The encoded protein has also been shown to regulate transcription of the alpha3 nicotinic acetylcholine receptor gene. Mutations in this gene have been associated with autosomal recessive congenital fibrosis of the extraocular muscles. [provided by RefSeq, Jul 2008].

RefSeq NP_005160.2
CDS 173..1027
Misc Feature(1)20..22
Misc Feature(2)20..22
Misc Feature(3)443..619
Misc Feature(4)443..619
Misc Feature(5)order(443..457,461..463,512..514,530..532,569..571,
Misc Feature(6)order(449..451,458..460,578..580,587..592,599..601)
Exon (1)1..389
Gene:PHOX2A
Gene Synonym:ARIX; CFEOM2; FEOM2; NCAM2; PMX2A
Exon (2)390..577
Gene:PHOX2A
Gene Synonym:ARIX; CFEOM2; FEOM2; NCAM2; PMX2A
Exon (3)578..1699
Gene:PHOX2A
Gene Synonym:ARIX; CFEOM2; FEOM2; NCAM2; PMX2A
Translation MDYSYLNSYDSCVAAMEASAYGDFGACSQPGGFQYSPLRPAFPAAGPPCPALGSSNCALG ALRDHQPAPYSAVPYKFFPEPSGLHEKRKQRRIRTTFTSAQLKELERVFAETHYPDIYTR EELALKIDLTEARVQVWFQNRRAKFRKQERAASAKGAAGAAGAKKGEARCSSEDDDSKES TCSPTPDSTASLPPPPAPGLASPRLSPSPLPVALGSGPGPGPGPQPLKGALWAGVAGGGG GGPGAGAAELLKAWQPAESGPGPFSGVLSSFHRKPGPALKTNLF
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Position Chain Variation Link
complement(123)-g, adbSNP:200284055
complement(154)-t, cdbSNP:140850664
complement(328)-g, adbSNP:182932220
complement(356)-g, cdbSNP:12787525
complement(387)-t, cdbSNP:104894269
complement(425)-dbSNP:
complement(425)-g, adbSNP:148937033
complement(428)-g, cdbSNP:145702565
complement(445)-t, cdbSNP:145380401
complement(652..660)-dbSNP:
complement(652..660)-, gcgcccgccdbSNP:200556921
complement(1410)-c, adbSNP:56787483
complement(1430)-t, cdbSNP:80340347
complement(1681..1684)-, aagtdbSNP:70940830
Gene SymbolPHOX2A
Gene SynonymARIX; CFEOM2; FEOM2; NCAM2; PMX2A
Chromosome11
Locus Map11q13.2
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_005169 Homo sapiens paired-like homeobox 2a (PHOX2A), mRNA. Full Length $497.64
ORF Sequence $247.95
Title [Identification of a novel PHOX2A gene mutation in a Chinese family with congenital fibrosis of extraocular muscles type 2] .
Author Dong,J.M., Shen,Q., Li,J., Du,W., Pang,H.L., Lin,S.F. and Bu,J.
Journal Zhonghua Yi Xue Yi Chuan Xue Za Zhi 29 (1), 5-8 (2012)
Title Phenotype-phenotype and genotype-phenotype correlations in patients with idiopathic superior oblique muscle palsy .
Author Ohkubo,S.I., Matsuo,T., Hasebe,K., Shira,Y.H., Itoshima,E. and Ohtsuki,H.
Journal J. Hum. Genet. 57 (2), 122-129 (2012)
Title Mutations in KIF21A and PHOX2A are absent in 16 patients with congenital vertical incomitant strabismus .
Author Khan,A.O., Khalil,D.S., Al-Sharif,L.J. and Al-Tassan,N.A.
Journal Ophthalmic Genet. 30 (4), 206-207 (2009)
Title Effects of transcription factors Phox2 on expression of norepinephrine transporter and dopamine beta-hydroxylase in SK-N-BE(2)C cells .
Author Fan,Y., Huang,J., Kieran,N. and Zhu,M.Y.
Journal J. Neurochem. 110 (5), 1502-1513 (2009)
Title The Phox2 pathway is differentially expressed in neuroblastoma tumors, but no mutations were found in the candidate tumor suppressor gene PHOX2A .
Author Wilzen,A., Nilsson,S., Sjoberg,R.M., Kogner,P., Martinsson,T. and Abel,F.
Journal Int. J. Oncol. 34 (3), 697-705 (2009)
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 .
Author Swanson,D.J., Adachi,M. and Lewis,E.J.
Journal J. Biol. Chem. 275 (4), 2911-2923 (2000)
Title Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13 .
Author Wang,S.M., Zwaan,J., Mullaney,P.B., Jabak,M.H., Al-Awad,A., Beggs,A.H. and Engle,E.C.
Journal Am. J. Hum. Genet. 63 (2), 517-525 (1998)
Title The homeodomain protein Arix interacts synergistically with cyclic .
Author Swanson,D.J., Zellmer,E. and Lewis,E.J.
Journal J. Biol. Chem. 272 (43), 27382-27392 (1997)
Title A 5.5-Mb high-resolution integrated map of distal 11q13 .
Author Merscher,S., Bekri,S., de Leeuw,B., Pedeutour,F., Grosgeorge,J., Shows,T.B., Mullenbach,R., Le Paslier,D., Nowak,N.J. and Gaudray,P.
Journal Genomics 39 (3), 340-347 (1997)
Title Mapping of the ARIX homeodomain gene to mouse chromosome 7 and human chromosome 11q13 .
Author Johnson,K.R., Smith,L., Johnson,D.K., Rhodes,J., Rinchik,E.M., Thayer,M. and Lewis,E.J.
Journal Genomics 33 (3), 527-531 (1996)

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