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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_003924 Homo sapiens paired-like homeobox 2b (PHOX2B), mRNA. GenEZ ORF Cloning On-demand $TBD TBD

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RefSeq Version NM_003924.3, 172072680
Length 3033 bp
Structure linear
Update Date 17-APR-2013
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..804
Misc Feature(4)655..804
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)
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(335)-g, adbSNP:111690228
complement(430)-g, adbSNP:200971068
complement(450)-g, adbSNP:200038327
complement(594)-g, adbSNP:73810366
complement(648)-dbSNP:
complement(648)-g, cdbSNP:201892150
complement(659)-t, gdbSNP:104893855
complement(666)-g, cdbSNP:140002346
complement(669)-g, cdbSNP:199611260
complement(702)-t, gdbSNP:112718633
complement(765)-g, adbSNP:147497096
complement(781)-g, cdbSNP:28939716
complement(810)-dbSNP:
complement(810)-g, cdbSNP:17881486
complement(912)-t, cdbSNP:17885216
complement(950)-g, adbSNP:104893856
complement(951)-g, cdbSNP:144414806
complement(999)-g, cdbSNP:17879258
complement(1002)-g, adbSNP:190973308
complement(1033)-t, cdbSNP:112987541
complement(1110)-g, adbSNP:17882335
complement(1116..1136)-, ggcggcagcggcagcggcggcdbSNP:17879189
complement(1122)-c, adbSNP:17884724
complement(1136..1137)-, ggccgcggcagcggcggcggcggcagcggcagcggcggcdbSNP:17886470
complement(1192)-t, cdbSNP:138545772
complement(1230)-c, adbSNP: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(1797)-g, cdbSNP:181743762
complement(1854..1855)-, tdbSNP:201654270
complement(1905)-c, adbSNP:73139116
complement(1978..1979)-, adbSNP:3833622
complement(1979..1980)-, adbSNP:112178489
complement(2124)-g, adbSNP:189797897
complement(2347)-c, adbSNP:184952230
complement(2431)-g, cdbSNP:118046131
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
complement(2967)-t, adbSNP:1063611
complement(3017)-c, adbSNP: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 with hirschsprung's disease due to PHOX2B gene mutation in a Turkish infant .
Author Kaymakci,A., Narter,F., Yazar,A.S. and Yilmaz,M.S.
Journal Turk. J. Pediatr. 54 (5), 519-522 (2012)
Title Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS) .
Author Rand,C.M., Yu,M., Jennings,L.J., Panesar,K., Berry-Kravis,E.M., Zhou,L. and Weese-Mayer,D.E.
Journal Am. J. Med. Genet. A 158A (9), 2297-2301 (2012)
Title Hirschsprung's disease and variants in genes that regulate enteric neural crest cell proliferation, migration and differentiation .
Author Carter,T.C., Kay,D.M., Browne,M.L., Liu,A., Romitti,P.A., Kuehn,D., Conley,M.R., Caggana,M., Druschel,C.M., Brody,L.C. and Mills,J.L.
Journal J. Hum. Genet. 57 (8), 485-493 (2012)
Title Identification of novel DNA methylation markers in colorectal cancer using MIRA-based microarrays .
Author Li,H., Du,Y., Zhang,D., Wang,L.N., Yang,C., Liu,B., Wang,W.J., Shi,L., Hong,W.G., Zhang,L. and Yang,Y.X.
Journal Oncol. Rep. 28 (1), 99-104 (2012)
Title Associations between variants near a monoaminergic pathways gene (PHOX2B) and amygdala reactivity: a genome-wide functional imaging study .
Author Ousdal,O.T., Anand Brown,A., Jensen,J., Nakstad,P.H., Melle,I., Agartz,I., Djurovic,S., Bogdan,R., Hariri,A.R. and Andreassen,O.A.
Journal Twin Res Hum Genet 15 (3), 273-285 (2012)
Title Paired-like homeodomain proteins Phox2a/Arix and Phox2b/NBPhox have similar genetic organization and independently regulate dopamine beta-hydroxylase gene transcription .
Author Adachi,M., Browne,D. and Lewis,E.J.
Journal DNA Cell Biol. 19 (9), 539-554 (2000)
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,J.F.
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,J.F.
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)


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