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Homo sapiens paired-like homeobox 2b (PHOX2B), mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu26329 Homo sapiens paired-like homeobox 2b (PHOX2B), mRNA. pcDNA3.1+-DYK On-demand TBD TBD
OHu26329C Homo sapiens paired-like homeobox 2b (PHOX2B), mRNA. Customized vector On-demand $209.00 TBD

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Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Data sheet
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
Restriction Sites Hind III- EcoR I
RefSeq Version NM_003924.3, 172072680
Length 945 bp
Structure linear
Update Date 25-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens paired-like homeobox 2b (PHOX2B), mRNA.
Product paired mesoderm homeobox protein 2B
Comment

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. [provided by RefSeq, Jul 2008].


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.

RefSeq NP_003915.2
CDS 361..1305
Misc Feature(1)268..270
Misc Feature(2)268..270
Misc Feature(3)655..831
Misc Feature(4)655..831
Misc Feature(5)order(655..669,673..675,724..726,742..744,781..783,
Misc Feature(6)order(661..663,670..672,790..792,799..804,811..813)
Exon (1)1..601
Gene:PHOX2B
Gene Synonym:NBLST2; NBPhox; PMX2B
Exon (2)602..789
Gene:PHOX2B
Gene Synonym:NBLST2; NBPhox; PMX2B
Exon (3)790..3030
Gene:PHOX2B
Gene Synonym:NBLST2; NBPhox; PMX2B
Translation MYKMEYSYLNSSAYESCMAGMDTSSLASAYADFSSCSQASGFQYNPIRTTFGATSGCPSL TPGSCSLGTLRDHQSSPYAAVPYKLFTDHGGLNEKRKQRRIRTTFTSAQLKELERVFAET HYPDIYTREELALKIDLTEARVQVWFQNRRAKFRKQERAAAAAAAAAKNGSSGKKSDSSR DDESKEAKSTDPDSTGGPGPNPNPTPSCGANGGGGGGPSPAGAPGAAGPGGPGGEPGKGG AAAAAAAAAAAAAAAAAAAAGGLAAAGGPGQGWAPGPGPITSIPDSLGGPFASVLSSLQR PNGAKAALVKSSMF
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Position Chain Variation Link
complement(333)-g, adbSNP:373063040
complement(335)-g, adbSNP:111690228
complement(430)-g, adbSNP:200971068
complement(450)-g, adbSNP:200038327
complement(471)-g, adbSNP:374160638
complement(591)-c, adbSNP:376060053
complement(594)-g, adbSNP:73810366
complement(648)-dbSNP:
complement(648)-g, cdbSNP:201892150
659+g, tdbSNP:104893855
complement(666)-g, cdbSNP:140002346
complement(669)-g, cdbSNP:199611260
complement(702)-t, gdbSNP:112718633
complement(765)-g, adbSNP:147497096
781+c, gdbSNP:28939716
810+dbSNP:
810+c, gdbSNP:17881486
912+c, tdbSNP:17885216
950+a, gdbSNP:104893856
complement(951)-g, cdbSNP:144414806
complement(990)-c, adbSNP:370087972
999+c, gdbSNP:17879258
complement(1002)-g, adbSNP:190973308
complement(1033)-t, cdbSNP:112987541
1110+a, gdbSNP:17882335
1116..1136+, ggcggcagcggcagcggcggcdbSNP:17879189
1122+a, cdbSNP:17884724
1136..1137+, ggccgcggcagcggcggcggcggcagcggcagcggcggcdbSNP:17886470
complement(1192)-t, cdbSNP:138545772
complement(1213)-g, cdbSNP:372671435
1230+a, cdbSNP:17885864
complement(1385)-t, cdbSNP:75913938
complement(1466)-t, cdbSNP:114290493
complement(1499)-t, gdbSNP:186778106
complement(1570)-g, cdbSNP:112714631
complement(1583)-t, adbSNP:73810341
complement(1743..1744)-, tdbSNP:371928986
complement(1797)-g, cdbSNP:181743762
complement(1854..1855)-, tdbSNP:201654270
complement(1905)-c, adbSNP:73139116
complement(1978..1979)-, adbSNP:397840867
complement(1979..1980)-, adbSNP:3833622
complement(2124)-g, adbSNP:189797897
complement(2137)-g, adbSNP:371402086
complement(2143)-t, cdbSNP:367652707
complement(2347)-c, adbSNP:184952230
complement(2431)-g, cdbSNP:118046131
complement(2431)-g, cdbSNP:386451316
complement(2615)-c, adbSNP:180795407
complement(2652)-t, cdbSNP:62412180
complement(2669)-t, cdbSNP:6826373
complement(2686)-g, adbSNP:59260453
complement(2692)-g, adbSNP:11723860
complement(2709)-c, adbSNP:35350459
complement(2760)-c, adbSNP:35977299
2967+a, tdbSNP:1063611
3017+a, cdbSNP:1063612
Gene SymbolPHOX2B
Gene SynonymNBLST2; NBPhox; PMX2B
Chromosome4
Locus Map4p12
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_003924 Homo sapiens paired-like homeobox 2b (PHOX2B), mRNA. On-demand TBD TBD
Title [Congenital central hypoventilation syndrome: paradigm shifts and future prospects] .
Author Hayasaka K and Sasaki A.
Journal Nippon Rinsho 72 (2), 363-370 (2014)
Title A study of gata3 and phox2b expression in tumors of the autonomic nervous system .
Author Nonaka D, Wang BY, Edmondson D, Beckett E and Sun CC.
Journal Am. J. Surg. Pathol. 37 (8), 1236-1241 (2013)
Title Contributions of PHOX2B in the pathogenesis of Hirschsprung disease .
Author Fernandez RM, Mathieu Y, Luzon-Toro B, Nunez-Torres R, Gonzalez-Meneses A, Antinolo G, Amiel J and Borrego S.
Journal PLoS ONE 8 (1), E54043 (2013)
Title Congenital central hypoventilation syndrome with hirschsprung's disease due to PHOX2B gene mutation in a Turkish infant .
Author Kaymakci A, Narter F, Yazar AS and Yilmaz MS.
Journal Turk. J. Pediatr. 54 (5), 519-522 (2012)
Title Genomic structure and functional characterization of NBPhox (PMX2B), a homeodomain protein specific to catecholaminergic cells that is involved in second messenger-mediated transcriptional activation .
Author Yokoyama M, Watanabe H and Nakamura M.
Journal Genomics 59 (1), 40-50 (1999)
Title The homeobox gene Phox2b is essential for the development of autonomic neural crest derivatives .
Author Pattyn A, Morin X, Cremer H, Goridis C and Brunet JF.
Journal Nature 399 (6734), 366-370 (1999)
Title Expression and interactions of the two closely related homeobox genes Phox2a and Phox2b during neurogenesis .
Author Pattyn A, Morin X, Cremer H, Goridis C and Brunet JF.
Journal Development 124 (20), 4065-4075 (1997)
Title Identification and cloning of neuroblastoma-specific and nerve tissue-specific genes through compiled expression profiles .
Author Yokoyama M, Nishi Y, Yoshii J, Okubo K and Matsubara K.
Journal DNA Res. 3 (5), 311-320 (1996)
Title Hirschsprung Disease Overview .
Author Parisi,M.A.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Congenital Central Hypoventilation Syndrome .
Author Weese-Mayer,D.E., Marazita,M.L., Rand,C.M. and Berry-Kravis,E.M.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)

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