Homo sapiens paired-like homeobox 2b (PHOX2B), mRNA.
| RefSeq Version | NM_003924.3, 172072680 |
| Length | 3033 bp |
| Structure | linear |
| Update Date | 01-MAY-2011 |
| 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]. 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 | Exon (1) | 1..601 | Exon (2) | 1..601 | Exon (3) | 602..789 | Exon (4) | 790..3030 |
| Translation | MYKMEYSYLNSSAYESCMAGMDTSSLASAYADFSSCSQASGFQYNPIRTTFGATSGCPSL
TPGSCSLGTLRDHQSSPYAAVPYKLFTDHGGLNEKRKQRRIRTTFTSAQLKELERVFAET
HYPDIYTREELALKIDLTEARVQVWFQNRRAKFRKQERAAAAAAAAAKNGSSGKKSDSSR
DDESKEAKSTDPDSTGGPGPNPNPTPSCGANGGGGGGPSPAGAPGAAGPGGPGGEPGKGG
AAAAAAAAAAAAAAAAAAAAGGLAAAGGPGQGWAPGPGPITSIPDSLGGPFASVLSSLQR
PNGAKAALVKSSMF
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| Position | Chain | Variation | Link |
| complement(335) | - | g, a | dbSNP:111690228 |
| complement(594) | - | g, a | dbSNP:73810366 |
| 656 | + | g, t | dbSNP:28939715 |
| 659 | + | g, t | dbSNP:104893855 |
| complement(702) | - | t, g | dbSNP:112718633 |
| 781 | + | c, g | dbSNP:28939716 |
| 810 | + | c, g | dbSNP:17881486 |
| 912 | + | c, t | dbSNP:17885216 |
| 950 | + | a, g | dbSNP:104893856 |
| 999 | + | c, g | dbSNP:17879258 |
| complement(1033) | - | t, c | dbSNP:112987541 |
| 1110 | + | a, g | dbSNP:17882335 |
| 1116..1136 | + | , ggcggcagcggcagcggcggc | dbSNP:17879189 |
| 1122 | + | a, c | dbSNP:17884724 |
| 1136..1137 | + | , ggccgcggcagcggcggcggcggcagcggcagcggcggc | dbSNP:17886470 |
| 1230 | + | a, c | dbSNP:17885864 |
| complement(1385) | - | t, c | dbSNP:75913938 |
| complement(1466) | - | t, c | dbSNP:114290493 |
| complement(1570) | - | g, c | dbSNP:112714631 |
| complement(1583) | - | t, a | dbSNP:73810341 |
| complement(1905) | - | c, a | dbSNP:73139116 |
| complement(1978..1979) | - | , a | dbSNP:3833622 |
| complement(1979..1980) | - | , a | dbSNP:112178489 |
| complement(2115) | - | g, a | dbSNP:117700271 |
| complement(2431) | - | g, c | dbSNP:118046131 |
| complement(2652) | - | t, c | dbSNP:62412180 |
| complement(2669) | - | t, c | dbSNP:6826373 |
| complement(2686) | - | g, a | dbSNP:59260453 |
| complement(2692) | - | g, a | dbSNP:11723860 |
| complement(2706) | - | g, c | dbSNP:75209434 |
| complement(2709) | - | c, a | dbSNP:35350459 |
| complement(2760) | - | c, a | dbSNP:35977299 |
| 2967 | + | a, t | dbSNP:1063611 |
| 3017 | + | a, c | dbSNP:1063612 |
| Gene Symbol | PHOX2B |
| Gene Synonym | NBLST2; NBPhox; PMX2B |
| Chromosome | 4 |
| Locus Map | 4p12 |
| All Transcripts | NM_003924 |
| Title | IL23R, NOD2/CARD15, ATG16L1 and PHOX2B polymorphisms in a group of patients with Crohn's disease and correlation with sub-phenotypes . |
| Author | Lauriola,M., Ugolini,G., Rivetti,S., Nani,S., Rosati,G., Zanotti,S., Montroni,I., Manaresi,A., Zattoni,D., Belluzzi,A., Castellani,L., D'Uva,G., Mattei,G., Taffurelli,M., Strippoli,P. and Solmi,R. |
| Journal | Int. J. Mol. Med. 27 (3), 469-477 (2011) |
| Title | Comparison of PHOX2B testing methods in the diagnosis of congenital central hypoventilation syndrome and mosaic carriers . |
| Author | Jennings,L.J., Yu,M., Zhou,L., Rand,C.M., Berry-Kravis,E.M. and Weese-Mayer,D.E. |
| Journal | Diagn. Mol. Pathol. 19 (4), 224-231 (2010) |
| Title | Association of linear growth impairment in pediatric Crohn's disease and a known height locus: a pilot study . |
| Author | Lee,J.J., Essers,J.B., Kugathasan,S., Escher,J.C., Lettre,G., Butler,J.L., Stephens,M.C., Ramoni,M.F., Grand,R.J. and Hirschhorn,J. |
| Journal | Ann. Hum. Genet. 74 (6), 489-497 (2010) |
| Title | Congenital central hypoventilation syndrome and the PHOX2B gene: a model of respiratory and autonomic dysregulation . |
| Author | Patwari,P.P., Carroll,M.S., Rand,C.M., Kumar,R., Harper,R. and Weese-Mayer,D.E. |
| Journal | Respir Physiol Neurobiol 173 (3), 322-335 (2010) |
| Title | PHOX2B-mediated regulation of ALK expression: in vitro identification of a functional relationship between two genes involved in neuroblastoma . |
| Author | Bachetti,T., Di Paolo,D., Di Lascio,S., Mirisola,V., Brignole,C., Bellotti,M., Caffa,I., Ferraris,C., Fiore,M., Fornasari,D., Chiarle,R., Borghini,S., Pfeffer,U., Ponzoni,M., Ceccherini,I. and Perri,P. |
| Journal | PLoS ONE 5 (10) (2010) |
| 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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