Hmdb loader
Identification
HMDB Protein ID HMDBP08158
Secondary Accession Numbers
  • 13869
Name Paired mesoderm homeobox protein 2B
Synonyms
  1. NBPhox
  2. Neuroblastoma Phox
  3. PHOX2B homeodomain protein
  4. Paired-like homeobox 2B
Gene Name PHOX2B
Protein Type Unknown
Biological Properties
General Function Involved in sequence-specific DNA binding transcription factor activity
Specific Function Involved in the development of several major noradrenergic neuron populations, including the locus coeruleus. Transcription factor which could determine a neurotransmitter phenotype in vertebrates. Enhances second-messenger-mediated activation of the dopamine beta-hydrolase and c-fos promoters, and of several enhancers including cAMP-response element and serum- response element
Pathways Not Available
Reactions Not Available
GO Classification
Component
organelle
membrane-bounded organelle
intracellular membrane-bounded organelle
nucleus
Function
binding
transcription regulator activity
nucleic acid binding
dna binding
sequence-specific dna binding
sequence-specific dna binding transcription factor activity
Process
biological regulation
regulation of biological process
regulation of metabolic process
regulation of macromolecule metabolic process
regulation of gene expression
regulation of transcription
regulation of transcription, dna-dependent
Cellular Location
  1. Nucleus
Gene Properties
Chromosome Location Chromosome:4
Locus 4p12
SNPs PHOX2B
Gene Sequence
>945 bp
ATGTATAAAATGGAATATTCTTACCTCAATTCCTCTGCCTACGAGTCCTGTATGGCTGGG
ATGGACACCTCGAGCCTGGCTTCAGCCTATGCTGACTTCAGTTCCTGCAGCCAGGCCAGT
GGCTTCCAGTATAACCCGATAAGGACCACTTTTGGGGCCACGTCCGGCTGCCCTTCCCTC
ACGCCGGGATCCTGCAGCCTGGGCACCCTCAGGGACCACCAGAGCAGTCCGTACGCCGCA
GTTCCTTACAAACTCTTCACGGACCACGGCGGCCTCAACGAGAAGCGCAAGCAGCGGCGC
ATCCGCACCACTTTCACCAGTGCCCAGCTCAAAGAGCTGGAAAGGGTCTTCGCGGAGACT
CACTACCCCGACATCTACACTCGGGAGGAGCTGGCCCTGAAGATCGACCTCACAGAGGCG
CGAGTCCAGGTGTGGTTCCAGAACCGCCGCGCCAAGTTTCGCAAGCAGGAGCGCGCAGCG
GCAGCCGCAGCGGCCGCGGCCAAGAACGGCTCCTCGGGCAAAAAGTCTGACTCTTCCAGG
GACGACGAGAGCAAAGAGGCCAAGAGCACTGACCCGGACAGCACTGGGGGCCCAGGTCCC
AATCCCAACCCCACCCCCAGCTGCGGGGCGAATGGAGGCGGCGGCGGCGGGCCCAGCCCG
GCTGGAGCTCCGGGGGCGGCGGGGCCCGGGGGCCCGGGAGGCGAACCCGGCAAGGGCGGC
GCAGCAGCAGCGGCGGCGGCCGCGGCAGCGGCGGCGGCGGCAGCGGCAGCGGCGGCAGCT
GGAGGCCTGGCTGCGGCTGGGGGCCCTGGACAAGGCTGGGCTCCCGGCCCCGGCCCCATC
ACCTCCATCCCGGATTCGCTTGGGGGTCCCTTCGGCAGCGTCCTATCTTCGCTCCAAAGA
CCCAACGGTGCCAAAGCCGCCTTAGTGAAGAGCAGTATGTTCTGA
Protein Properties
Number of Residues 314
Molecular Weight 31620.6
Theoretical pI 9.1
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • None
Protein Sequence
>Paired mesoderm homeobox protein 2B
MYKMEYSYLNSSAYESCMAGMDTSSLASAYADFSSCSQASGFQYNPIRTTFGATSGCPSL
TPGSCSLGTLRDHQSSPYAAVPYKLFTDHGGLNEKRKQRRIRTTFTSAQLKELERVFAET
HYPDIYTREELALKIDLTEARVQVWFQNRRAKFRKQERAAAAAAAAAKNGSSGKKSDSSR
DDESKEAKSTDPDSTGGPGPNPNPTPSCGANGGGGGGPSPAGAPGAAGPGGPGGEPGKGG
AAAAAAAAAAAAAAAAAAAAGGLAAAGGPGQGWAPGPGPITSIPDSLGGPFASVLSSLQR
PNGAKAALVKSSMF
GenBank ID Protein 5672611
UniProtKB/Swiss-Prot ID Q99453
UniProtKB/Swiss-Prot Entry Name PHX2B_HUMAN
PDB IDs Not Available
GenBank Gene ID AB015671
GeneCard ID PHOX2B
GenAtlas ID PHOX2B
HGNC ID HGNC:9143
References
General References
  1. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  2. Sasaki A, Kanai M, Kijima K, Akaba K, Hashimoto M, Hasegawa H, Otaki S, Koizumi T, Kusuda S, Ogawa Y, Tuchiya K, Yamamoto W, Nakamura T, Hayasaka K: Molecular analysis of congenital central hypoventilation syndrome. Hum Genet. 2003 Dec;114(1):22-6. Epub 2003 Oct 18. [PubMed:14566559 ]
  3. Yokoyama M, Nishi Y, Yoshii J, Okubo K, Matsubara K: Identification and cloning of neuroblastoma-specific and nerve tissue-specific genes through compiled expression profiles. DNA Res. 1996 Oct 31;3(5):311-20. [PubMed:9039501 ]
  4. Adachi M, Browne D, Lewis EJ: Paired-like homeodomain proteins Phox2a/Arix and Phox2b/NBPhox have similar genetic organization and independently regulate dopamine beta-hydroxylase gene transcription. DNA Cell Biol. 2000 Sep;19(9):539-54. [PubMed:11034547 ]
  5. Yokoyama M, Watanabe H, Nakamura M: Genomic structure and functional characterization of NBPhox (PMX2B), a homeodomain protein specific to catecholaminergic cells that is involved in second messenger-mediated transcriptional activation. Genomics. 1999 Jul 1;59(1):40-50. [PubMed:10395798 ]
  6. Amiel J, Laudier B, Attie-Bitach T, Trang H, de Pontual L, Gener B, Trochet D, Etchevers H, Ray P, Simonneau M, Vekemans M, Munnich A, Gaultier C, Lyonnet S: Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet. 2003 Apr;33(4):459-61. Epub 2003 Mar 17. [PubMed:12640453 ]
  7. Trochet D, Bourdeaut F, Janoueix-Lerosey I, Deville A, de Pontual L, Schleiermacher G, Coze C, Philip N, Frebourg T, Munnich A, Lyonnet S, Delattre O, Amiel J: Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. Am J Hum Genet. 2004 Apr;74(4):761-4. Epub 2004 Mar 11. [PubMed:15024693 ]
  8. Trochet D, O'Brien LM, Gozal D, Trang H, Nordenskjold A, Laudier B, Svensson PJ, Uhrig S, Cole T, Niemann S, Munnich A, Gaultier C, Lyonnet S, Amiel J: PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. Am J Hum Genet. 2005 Mar;76(3):421-6. Epub 2005 Jan 18. [PubMed:15657873 ]
  9. McConville C, Reid S, Baskcomb L, Douglas J, Rahman N: PHOX2B analysis in non-syndromic neuroblastoma cases shows novel mutations and genotype-phenotype associations. Am J Med Genet A. 2006 Jun 15;140(12):1297-301. [PubMed:16691592 ]