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PHOX2B cDNA ORF clone, Homo sapiens(Human)

Gene Symbol PHOX2B
Entrez Gene ID 8929
Full Name paired like homeobox 2b
Synonyms NBLST2,NBPhox,PMX2B
General protein information
Preferred Names

paired like homeobox 2b

Names

paired mesoderm homeobox protein 2B
PHOX2B homeodomain protein
neuroblastoma Phox
neuroblastoma paired-type homeobox protein
paired mesoderm homeobox 2b
paired-like homeobox 2B

Gene Type protein-coding
Organism Homo sapiens(Human)
Genome

4

4p13

Summary The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription factor involved in the development of several major noradrenergic neuron populations and the determination of neurotransmitter phenotype. The gene product is linked to enhancement of second messenger-mediated activation of the dopamine beta-hydroylase, c-fos promoters and several enhancers, including cyclic amp-response element and serum-response element. Expansion of a 20 amino acid polyalanine tract in this protein by 5-13 aa has been associated with congenital central hypoventilation syndrome. [provided by RefSeq, Jul 2016].
Disorder MIM:

603851

Disorder Html: Central hypoventilation syndrome, congenital, 209880 (3);

mRNA and Protein(s)

mRNA Protein Name
NM_003924.3 NP_003915.2 paired mesoderm homeobox protein 2B



Canis lupus familiaris (dog) PHOX2B XP_852840.1
Danio rerio (zebrafish) phox2bb NP_001014818.1
Homo sapiens (human) PHOX2B NP_003915.2
Xenopus tropicalis (tropical clawed frog) phox2b NP_001116492.1
Gallus gallus (chicken) PHOX2B XP_001234151.2
Danio rerio (zebrafish) LOC101885818 XP_005157278.1
Pan troglodytes (chimpanzee) PHOX2B XP_001149518.1
Mus musculus (house mouse) Phox2b NP_032914.1
Macaca mulatta (rhesus monkey) PHOX2B XP_001098028.1


Related articles in PubMed

PHOX2A and PHOX2B are differentially regulated during retinoic acid-driven differentiation of SK-N-BE(2)C neuroblastoma cell line.
Di Lascio S, Saba E, Belperio D, Raimondi A, Lucchetti H, Fornasari D, Benfante R
Experimental cell research342(1)62-71(2016 Mar)

Oncologic Phenotype of Peripheral Neuroblastic Tumors Associated With PHOX2B Non-Polyalanine Repeat Expansion Mutations.
Heide S, Masliah-Planchon J, Isidor B, Guimier A, Bodet D, Coze C, Deville A, Thebault E, Pasquier CJ, Cassagnau E, Pierron G, Clément N, Schleiermacher G, Amiel J, Delattre O, Peuchmaur M, Bourdeaut F
Pediatric blood & cancer63(1)71-7(2016 Jan)

IL-1beta mediates MMP secretion and IL-1beta neosynthesis via upregulation of p22(phox) and NOX4 activity in human articular chondrocytes.
Rousset F, Hazane-Puch F, Pinosa C, Nguyen MV, Grange L, Soldini A, Rubens-Duval B, Dupuy C, Morel F, Lardy B
Osteoarthritis and cartilage23(11)1972-80(2015 Nov)

miR-204 mediates post-transcriptional down-regulation of PHOX2B gene expression in neuroblastoma cells.
Bachetti T, Di Zanni E, Ravazzolo R, Ceccherini I
Biochimica et biophysica acta1849(8)1057-65(2015 Aug)

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

This study is the first to evaluate minimal residual disease detection using neuroblastoma mRNAs in human ovarian tissue. Only PHOX2B was a reliable marker of neuroblastoma cells contaminating ovarian tissue.
Title: Highly sensitive assessment of neuroblastoma minimal residual disease in ovarian tissue using RT-qPCR-A strategy for improving the safety of fertility restoration.

This truncated protein localized to the nucleus and transactivated a target promoter. These data suggest that nonsense pathogenic variants in the first exon of PHOX2B likely escape nonsense mediated decay (NMD) and produce N-terminally truncated proteins functionally distinct from those produced by the more common polyalanine repeat mutations (PARMs).
Title: Nonsense pathogenic variants in exon 1 of PHOX2B lead to translational reinitiation in congenital central hypoventilation syndrome.

PHOX2B forms homodimers and heterodimerizes weakly with mutated proteins, excluding the direct involvement of the polyalanine tract in dimer formation, indicating that mutated proteins retain partial ability to form heterodimers with PHOX2A.
Title: Alanine Expansions Associated with Congenital Central Hypoventilation Syndrome Impair PHOX2B Homeodomain-mediated Dimerization and Nuclear Import.

PHOX2A expression is finely controlled during retinoic acid differentiation and this, together with PHOX2B down-regulation.
Title: PHOX2A and PHOX2B are differentially regulated during retinoic acid-driven differentiation of SK-N-BE(2)C neuroblastoma cell line.

High PHOX2B expression is associated with Neuroblastoma.
Title: PHOX2B Is Associated with Neuroblastoma Cell Differentiation.

The following PHOX2B gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the PHOX2B 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
OHu26329 NM_003924.3
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Homo sapiens paired like homeobox 2b (PHOX2B), mRNA. pcDNA3.1+/C-(K)DYK or customized vector TBD $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 OHu26329
Clone ID Related Accession (Same CDS sequence) NM_003924.3
Accession Version NM_003924.3 Latest version! Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 945bp)
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
ORF Insert Method CloneEZ® Seamless cloning technology
Insert Structure linear
Update Date 2016-10-06
Organism Homo sapiens(Human)
Product paired mesoderm homeobox protein 2B
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from D82344.1, BC017199.2, AC105389.3 and AI266171.1. This sequence is a reference standard in the RefSeqGene project. On Apr 4, 2008 this sequence version replaced NM_003924.2. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments and orthologous data. 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 :: D82344.1, BC017199.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2145544 [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
901
ATGTATAAAA TGGAATATTC TTACCTCAAT TCCTCTGCCT ACGAGTCCTG TATGGCTGGG 
ATGGACACCT CGAGCCTGGC TTCAGCCTAT GCTGACTTCA GTTCCTGCAG CCAGGCCAGT
GGCTTCCAGT ATAACCCGAT AAGGACCACT TTTGGGGCCA CGTCCGGCTG CCCTTCCCTC
ACGCCGGGAT CCTGCAGCCT GGGCACCCTC AGGGACCACC AGAGCAGTCC GTACGCCGCA
GTTCCTTACA AACTCTTCAC GGACCACGGC GGCCTCAACG AGAAGCGCAA GCAGCGGCGC
ATCCGCACCA CTTTCACCAG TGCCCAGCTC AAAGAGCTGG AAAGGGTCTT CGCGGAGACT
CACTACCCCG ACATCTACAC TCGGGAGGAG CTGGCCCTGA AGATCGACCT CACAGAGGCG
CGAGTCCAGG TGTGGTTCCA GAACCGCCGC GCCAAGTTTC GCAAGCAGGA GCGCGCAGCG
GCAGCCGCAG CGGCCGCGGC CAAGAACGGC TCCTCGGGCA AAAAGTCTGA CTCTTCCAGG
GACGACGAGA GCAAAGAGGC CAAGAGCACT GACCCGGACA GCACTGGGGG CCCAGGTCCC
AATCCCAACC CCACCCCCAG CTGCGGGGCG AATGGAGGCG GCGGCGGCGG GCCCAGCCCG
GCTGGAGCTC CGGGGGCGGC GGGGCCCGGG GGCCCGGGAG GCGAACCCGG CAAGGGCGGC
GCAGCAGCAG CGGCGGCGGC CGCGGCAGCG GCGGCGGCGG CAGCGGCAGC GGCGGCAGCT
GGAGGCCTGG CTGCGGCTGG GGGCCCTGGA CAAGGCTGGG CTCCCGGCCC CGGCCCCATC
ACCTCCATCC CGGATTCGCT TGGGGGTCCC TTCGCCAGCG TCCTATCTTC GCTCCAAAGA
CCCAACGGTG CCAAAGCCGC CTTAGTGAAG AGCAGTATGT TCTGA

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

RefSeq NP_003915.2
CDS361..1305
Misc Feature(1)268..270
Misc Feature(2)order(655..669,673..675,724..726,742..744,781..783,787..792,799..804,808..816,820..825)
Misc Feature(3)order(661..663,670..672,790..792,799..804,811..813)
Misc Feature(4)664..822
Misc Feature(5)1081..1140
Exon (1)1..601
Exon (2)602..789
Exon (3)790..3030
Translation

Target ORF information:

RefSeq Version NM_003924.3
Organism Homo sapiens(Human)
Definition Homo sapiens paired like homeobox 2b (PHOX2B), mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_003924.3

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
ATGTATAAAA TGGAATATTC TTACCTCAAT TCCTCTGCCT ACGAGTCCTG TATGGCTGGG 
ATGGACACCT CGAGCCTGGC TTCAGCCTAT GCTGACTTCA GTTCCTGCAG CCAGGCCAGT
GGCTTCCAGT ATAACCCGAT AAGGACCACT TTTGGGGCCA CGTCCGGCTG CCCTTCCCTC
ACGCCGGGAT CCTGCAGCCT GGGCACCCTC AGGGACCACC AGAGCAGTCC GTACGCCGCA
GTTCCTTACA AACTCTTCAC GGACCACGGC GGCCTCAACG AGAAGCGCAA GCAGCGGCGC
ATCCGCACCA CTTTCACCAG TGCCCAGCTC AAAGAGCTGG AAAGGGTCTT CGCGGAGACT
CACTACCCCG ACATCTACAC TCGGGAGGAG CTGGCCCTGA AGATCGACCT CACAGAGGCG
CGAGTCCAGG TGTGGTTCCA GAACCGCCGC GCCAAGTTTC GCAAGCAGGA GCGCGCAGCG
GCAGCCGCAG CGGCCGCGGC CAAGAACGGC TCCTCGGGCA AAAAGTCTGA CTCTTCCAGG
GACGACGAGA GCAAAGAGGC CAAGAGCACT GACCCGGACA GCACTGGGGG CCCAGGTCCC
AATCCCAACC CCACCCCCAG CTGCGGGGCG AATGGAGGCG GCGGCGGCGG GCCCAGCCCG
GCTGGAGCTC CGGGGGCGGC GGGGCCCGGG GGCCCGGGAG GCGAACCCGG CAAGGGCGGC
GCAGCAGCAG CGGCGGCGGC CGCGGCAGCG GCGGCGGCGG CAGCGGCAGC GGCGGCAGCT
GGAGGCCTGG CTGCGGCTGG GGGCCCTGGA CAAGGCTGGG CTCCCGGCCC CGGCCCCATC
ACCTCCATCC CGGATTCGCT TGGGGGTCCC TTCGCCAGCG TCCTATCTTC GCTCCAAAGA
CCCAACGGTG CCAAAGCCGC CTTAGTGAAG AGCAGTATGT TCTGA

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

book

PHOX2A and PHOX2B are differentially regulated during retinoic acid-driven differentiation of SK-N-BE(2)C neuroblastoma cell line.
Experimental cell research342(1)62-71(2016 Mar)
Di Lascio S,Saba E,Belperio D,Raimondi A,Lucchetti H,Fornasari D,Benfante R


book

Oncologic Phenotype of Peripheral Neuroblastic Tumors Associated With PHOX2B Non-Polyalanine Repeat Expansion Mutations.
Pediatric blood & cancer63(1)71-7(2016 Jan)
Heide S,Masliah-Planchon J,Isidor B,Guimier A,Bodet D,Coze C,Deville A,Thebault E,Pasquier CJ,Cassagnau E,Pierron G,Clément N,Schleiermacher G,Amiel J,Delattre O,Peuchmaur M,Bourdeaut F


book

IL-1beta mediates MMP secretion and IL-1beta neosynthesis via upregulation of p22(phox) and NOX4 activity in human articular chondrocytes.
Osteoarthritis and cartilage23(11)1972-80(2015 Nov)
Rousset F,Hazane-Puch F,Pinosa C,Nguyen MV,Grange L,Soldini A,Rubens-Duval B,Dupuy C,Morel F,Lardy B


book

miR-204 mediates post-transcriptional down-regulation of PHOX2B gene expression in neuroblastoma cells.
Biochimica et biophysica acta1849(8)1057-65(2015 Aug)
Bachetti T,Di Zanni E,Ravazzolo R,Ceccherini I


 
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