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PHOX2A cDNA ORF clone, Homo sapiens (human)

Gene Symbol PHOX2A
Entrez Gene ID 401
Full Name paired-like homeobox 2a
Synonyms ARIX, CFEOM2, FEOM2, NCAM2, PMX2A
General protein information
Preferred Names
paired mesoderm homeobox protein 2A
Names
paired mesoderm homeobox protein 2A
arix homeodomain protein
ARIX1 homeodomain protein
aristaless homeobox homolog
aristaless homeobox protein homolog
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

11

11q13.2

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]. lac of sum
Disorder MIM:

602753

Disorder Html: Fibrosis of extraocular muscles, congenital, 2, 602078 (3)

mRNA and Protein(s)

mRNA Protein Name
NM_005169 NP_005160 paired mesoderm homeobox protein 2A



Homo sapiens (human) PHOX2A NP_005160.2
Canis lupus familiaris (dog) PHOX2A XP_542326.2
Bos taurus (cattle) PHOX2A NP_001179086.1
Mus musculus (house mouse) Phox2a NP_032913.1
Rattus norvegicus (Norway rat) Phox2a NP_446321.1
Danio rerio (zebrafish) phox2a NP_996953.1
Xenopus (Silurana) tropicalis (western clawed frog) phox2a NP_001239128.1


GeneRIFs: Gene References Into Functions What's a GeneRIF?

The following PHOX2A gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the PHOX2A cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

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***CloneID RefSeq Accession Definition **Vector *Turnaround time Price (USD) Select
OHu18020
NM_005169 Homo sapiens paired-like homeobox 2a (PHOX2A), mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK
$154.50-$216.30
$309.00

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** You may select a custom vector to replace pcDNA3.1+/C-(K)DYK after clone is added to cart.

** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.


CloneID OHu18020
Clone ID Related Accession (Same CDS sequence) NM_005169
Accession Version NM_005169.3 Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 855bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags COA
ORF Insert Method CloneEZ® Seamless cloning technology
Insert Structure linear
Update Date 15-MAR-2015
Organism Homo sapiens (human)
Product paired mesoderm homeobox protein 2A
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK290645.1 and BC041564.1. This sequence is a reference standard in the RefSeqGene project. On May 20, 2008 this sequence version replaced gi:46249381. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC041564.1, BX376662.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
ATGGACTACT CCTACCTCAA TTCGTACGAC TCGTGCGTGG CGGCCATGGA GGCGTCCGCC 
TACGGCGACT TTGGCGCCTG CAGCCAGCCC GGCGGCTTCC AATACAGCCC CCTGCGGCCC
GCTTTCCCCG CGGCAGGGCC GCCCTGCCCC GCGCTCGGCT CCTCCAACTG CGCACTTGGC
GCCCTACGCG ACCACCAGCC CGCGCCCTAC TCGGCAGTGC CCTACAAGTT CTTCCCAGAG
CCATCCGGCC TGCACGAGAA GCGCAAGCAG CGGCGCATCC GCACCACGTT CACCAGCGCG
CAGCTCAAGG AGCTGGAGCG CGTTTTCGCT GAGACCCACT ACCCCGACAT TTACACGCGT
GAGGAGCTGG CGCTCAAGAT CGACCTCACT GAGGCTCGCG TGCAGGTCTG GTTCCAGAAC
CGCCGGGCCA AGTTCCGCAA ACAGGAGCGC GCGGCCAGCG CCAAGGGCGC GGCGGGCGCG
GCGGGCGCCA AAAAGGGCGA GGCGCGCTGC TCCTCCGAGG ACGACGATTC CAAGGAGTCC
ACGTGCAGCC CCACGCCCGA TAGCACCGCC TCGCTGCCGC CGCCGCCTGC GCCCGGCCTG
GCCAGCCCGC GCCTGAGCCC CAGCCCGCTG CCCGTCGCAC TGGGCTCCGG GCCGGGACCT
GGGCCGGGGC CACAGCCGCT CAAGGGCGCA CTGTGGGCCG GTGTGGCGGG CGGTGGGGGC
GGCGGGCCTG GCGCGGGAGC GGCCGAACTA CTTAAGGCTT GGCAGCCGGC GGAGTCCGGC
CCCGGGCCCT TCTCCGGGGT TCTGTCCTCC TTTCACCGGA AGCCCGGCCC CGCCCTGAAG
ACCAATCTCT TCTAG

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_005160.2
CDS173..1027
Misc Feature(1)20..22(+)
Misc Feature(2)443..619(+)
Misc Feature(3)443..613(+)
Misc Feature(4)449..601(+)
Exon (1)1..389
Gene:PHOX2A
Gene Synonym:
Exon (2)390..577
Gene:PHOX2A
Gene Synonym:
Exon (3)578..1699
Gene:PHOX2A
Gene Synonym:
Translation

Target ORF information:

RefSeq Version NM_005169
Organism Homo sapiens (human)
Definition Homo sapiens paired-like homeobox 2a (PHOX2A), mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_005169

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
ATGGACTACT CCTACCTCAA TTCGTACGAC TCGTGCGTGG CGGCCATGGA GGCGTCCGCC 
TACGGCGACT TTGGCGCCTG CAGCCAGCCC GGCGGCTTCC AATACAGCCC CCTGCGGCCC
GCTTTCCCCG CGGCAGGGCC GCCCTGCCCC GCGCTCGGCT CCTCCAACTG CGCACTTGGC
GCCCTACGCG ACCACCAGCC CGCGCCCTAC TCGGCAGTGC CCTACAAGTT CTTCCCAGAG
CCATCCGGCC TGCACGAGAA GCGCAAGCAG CGGCGCATCC GCACCACGTT CACCAGCGCG
CAGCTCAAGG AGCTGGAGCG CGTTTTCGCT GAGACCCACT ACCCCGACAT TTACACGCGT
GAGGAGCTGG CGCTCAAGAT CGACCTCACT GAGGCTCGCG TGCAGGTCTG GTTCCAGAAC
CGCCGGGCCA AGTTCCGCAA ACAGGAGCGC GCGGCCAGCG CCAAGGGCGC GGCGGGCGCG
GCGGGCGCCA AAAAGGGCGA GGCGCGCTGC TCCTCCGAGG ACGACGATTC CAAGGAGTCC
ACGTGCAGCC CCACGCCCGA TAGCACCGCC TCGCTGCCGC CGCCGCCTGC GCCCGGCCTG
GCCAGCCCGC GCCTGAGCCC CAGCCCGCTG CCCGTCGCAC TGGGCTCCGG GCCGGGACCT
GGGCCGGGGC CACAGCCGCT CAAGGGCGCA CTGTGGGCCG GTGTGGCGGG CGGTGGGGGC
GGCGGGCCTG GCGCGGGAGC GGCCGAACTA CTTAAGGCTT GGCAGCCGGC GGAGTCCGGC
CCCGGGCCCT TCTCCGGGGT TCTGTCCTCC TTTCACCGGA AGCCCGGCCC CGCCCTGAAG
ACCAATCTCT TCTAG

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

book

[Identification of a novel PHOX2A gene mutation in a Chinese family with congenital fibrosis of extraocular muscles type 2]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 29 (1), 5-8 (2012)
Dong JM, Shen Q, Li J, Du W, Pang HL, Lin SF and Bu J.


book

Phenotype-phenotype and genotype-phenotype correlations in patients with idiopathic superior oblique muscle palsy
J. Hum. Genet. 57 (2), 122-129 (2012)
Ohkubo SI, Matsuo T, Hasebe K, Shira YH, Itoshima E and Ohtsuki H.


book

Mutations in KIF21A and PHOX2A are absent in 16 patients with congenital vertical incomitant strabismus
Ophthalmic Genet. 30 (4), 206-207 (2009)
Khan,A.O., Khalil,D.S., Al-Sharif,L.J. and Al-Tassan,N.A.


book

Effects of transcription factors Phox2 on expression of norepinephrine transporter and dopamine beta-hydroxylase in SK-N-BE(2)C cells
J. Neurochem. 110 (5), 1502-1513 (2009)
Fan Y, Huang J, Kieran N and Zhu MY.


book

The Phox2 pathway is differentially expressed in neuroblastoma tumors, but no mutations were found in the candidate tumor suppressor gene PHOX2A
Int. J. Oncol. 34 (3), 697-705 (2009)
Wilzen A, Nilsson S, Sjoberg RM, Kogner P, Martinsson T and Abel F.


book

Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13
Am. J. Hum. Genet. 63 (2), 517-525 (1998)
Wang SM, Zwaan J, Mullaney PB, Jabak MH, Al-Awad A, Beggs AH and Engle EC.


book

The homeodomain protein Arix interacts synergistically with cyclic AMP to regulate expression of neurotransmitter biosynthetic genes
J. Biol. Chem. 272 (43), 27382-27392 (1997)
Swanson DJ, Zellmer E and Lewis EJ.


book

A 5.5-Mb high-resolution integrated map of distal 11q13
Genomics 39 (3), 340-347 (1997)
Merscher S, Bekri S, de Leeuw B, Pedeutour F, Grosgeorge J, Shows TB, Mullenbach R, Le Paslier D, Nowak NJ and Gaudray P.


book

Mapping of the ARIX homeodomain gene to mouse chromosome 7 and human chromosome 11q13
Genomics 33 (3), 527-531 (1996)
Johnson KR, Smith L, Johnson DK, Rhodes J, Rinchik EM, Thayer M and Lewis EJ.


book

Congenital Fibrosis of the Extraocular Muscles
(in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Andrews,C.V., Hunter,D.G. and Engle,E.C.


 
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