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phox2a

paired-like homeobox 2a

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GeneInformationForm
GeneName phox2a
Aliases sou , soulless, zgc:77364, arix,paired-like homeobox 2a
Description paired-like homeobox 2a
GenomicLocation Chromosome 15: 45,014,249-45,018,471 reverse strand.
ExternalIDs ZFIN:ZDB-GENE-000223-14; Entrez:404602; UniGene:29075
TranscriptID ENSDART:ENSDART00000002384
mRNA NCBI:NM_207070
GeneDescription Phox2a is a homeodomain transcription factors, are expressed in virtually all neurons that transiently or permanently express the nor- adrenergic (NA) biosynthetic enzyme, dopamine b-hydroxy- lase (DBH) and also it has been shouwn that this protein required for the development of LC and a subset of sympathetic, parasympa thetic, cranial motor, and sensory ganglia neurons (Morin et al., 1997).
GeneFunction Stephen et al. (1999) to understand the mechanism by which pluripotent progenitors give rise to distinct classes of mature neurons in vertebrates, they undertook a genetic screen for mutations which affect the commitment and differentiation of catecholaminergic (CA) [dopaminergic (DA), noradrenergic (NA), and adrenergic] neurons in the zebrafish, Danio rerio. In this screen, they have identified soulless mutant which lacks both arch-associated and Locus Coeruleus (LC) cell groups. All three alleles of soulless (sou) fail to develop the locus coeruleus and arch-associated CA cells.Guo et al. (1999) reported that the zebrafish mutation soulless, in which the development of locus coeruleus (LC) norad- renergic (NA) neurons failed to occur, disrupts the homeodomain protein Phox2a.Seo et al. (2002) in this study they proposed that Phox2a/Phox2b directly activate DBH transcription by contacting four binding sites on the 5 upstream promoter.Holzschuh et al. (2003) During the study of lockjaw mutant phenotype study, they have observed that in the locus coeruleus, Phox2a and Tfap2a are co-expressed and are both required for NA development.
GeneCloning

GeneStructure The gene phox2a codes for a single transcript ENSDART00000002384 which consist of 3 exons and is 843 bps in length. It codes for the protien ENSDARP00000013072 which has 280 residues.
Protein ENSDARP00000013072
ProteinDomainandFamilies has domain InterPro:IPR000047; InterPro:IPR001356; InterPro:IPR012287;
Motifs has motif Prosite:PS00027; Prosite:PS50071; PFAM:PF00046
Expression

GeneOntology

Orthologs Entrez:401
VariationAndRepeats RSID:rs40631788; RSID:rs40632776; RSID:rs40631300; RSID:rs40997923; RSID:rs40688327; RSID:rs41190596; RSID:rs40740809; RSID:rs40937130; RSID:rs41248490; RSID:rs40922189; RSID:rs41196765; RSID:rs41073433; RSID:rs40909189; RSID:rs41074143; RSID:rs40704739; RSID:rs41103504; RSID:rs40844127; RSID:rs41119020; RSID:rs41197702; RSID:rs41244565; RSID:rs40855502; RSID:rs41245662; RSID:rs40913780; RSID:rs40973707; RSID:rs40938901; RSID:rs40876871; RSID:rs41041784; RSID:rs41160652; RSID:rs40738632; RSID:rs40883233; RSID:rs40895291; RSID:rs41079911; RSID:rs41179817; RSID:rs40848548; RSID:rs40847016; RSID:rs41223477; RSID:rs40730683; RSID:rs41144830; RSID:rs41008971; RSID:rs41203759; RSID:rs41115536; RSID:rs40893802; RSID:rs40876498; RSID:rs180108367; RSID:rs40970132; RSID:rs40994560; RSID:rs40771027; RSID:rs40882439; RSID:rs40896511; RSID:rs40936460; RSID:rs40865221; RSID:rs40975279; RSID:rs41236263; RSID:rs40971649; RSID:rs40921058; RSID:rs40740905
DisordersAndMutations Zebrafish mutant soulless is a ENU mutant, in which the development of locus coeruleus (LC) norad- renergic (NA) neurons failed to occur, disrupts the homeodomain protein Phox2a. affected alleles are m810, m811, m812. ZFINID:ZDB-GENO-980520-38, ZFINID:ZDB-GENO-980520-42, ZFINID:ZDB-GENO-980520-34
RelatedPubMedArticles Guo S, Wilson SW, Cooke S, Chitnis AB, Driever W, Rosenthal A. Mutations in the zebrafish unmask shared regulatory pathways controlling the development of catecholaminergic neurons. Dev Biol. 1999 Apr 15;208(2):473-87. PMID:10191060 Guo S, Brush J, Teraoka H, Goddard A, Wilson SW, Mullins MC, Rosenthal A Development of noradrenergic neurons in the zebrafish hindbrain requires BMP, FGF8, and the homeodomain protein soulless/Phox2a. Neuron. 1999 Nov;24(3):555-66. PMID:10595509 Seo H, Hong SJ, Guo S, Kim HS, Kim CH, Hwang DY, Isacson O, Rosenthal A, Kim KS. A direct role of the homeodomain proteins Phox2a/2b in noradrenaline neurotransmitter identity determination. J Neurochem. 2002 Mar;80(5):905-16. PMID:11948255 Holzschuh J, Barrallo-Gimeno A, Ettl AK, Durr K, Knapik EW, Driever W. Noradrenergic neurons in the zebrafish hindbrain are induced by retinoic acid and require tfap2a for expression of the neurotransmitter phenotype. Development. 2003 Dec;130(23):5741-54. Epub 2003 Oct 8. PMID:14534139 NCBI Resource Coordinators.: Database resources of the National Center for Biotechnology Information. Nucleic Acids Res. 41(Database issue):D8-D20. 2013. PMID:23193264
Kersey, P. J.; Allen, J. E.; Christensen, M.; et al.: Ensembl Genomes 2013: scaling up access to genome-wide data. Nucleic Acids Res. 2013. PMID:24163254
Sigrist, C. J. A.; de, Castro, E; Cerutti, L; Cuche, B. A.; Hulo, N.; Bridge, A.; Bougueleret, L. Xenarios, I.: New and continuing developments at PROSITE. Nucleic Acids Res. doi: 10.1093/nar/gks1067. 2012. PMID:23161676
Punta, M.; Coggill, P. C.; Eberhardt, et al.: The Pfam protein families database. Nucleic Acids Res. 40(Database Issue):D290-D301. 2012. PMID:22127870
Hunter, S.; Jones P.; Mitchell A.; et al.: Interpro in 2011: new developments in the family and domain prediction database. Nucleic Acids Res. doi: 10.1093/nar/gkr948. 2011. PMID:22096229
Carbon, S.; Ireland, A.; Mungall, C. J.; Shu, S.; Marshall, B.; Lewis, S.; AMIGO Hub; Web Presence Working Group.: AMIGO: online access to ontology and annotation data. Bioinformatics. 25(2):288-9. 2009. PMID:19033274
Ashburner, M.; Ball, C. A.; Blake, J. A.; et al. The Gene Ontology Consortium.: Gene ontology: tool for the unification of biology. Nat. Genet. 25(1):25-9. 2000. PMID:10802651
Sherry, S. T.; Ward, M. H.; Kholodov, M.; Baker, J.; Phan, L.; Smigielski, E. M.; Sirotkin, K.: dbSNP: the NCBI database of genetic variation. Nucleic Acids Res. 1;29(1):308-11. 2001. PMID:11125122
Bradford, Y.; Conlin, T.; Dunn, N.; et al.: ZFIN: enhancements and updates to the zebrafish model organism database. Nucleic Acids Res. 39(suppl 1):D822-D829. 2011. PMID:21036866
Kapushesky, M.; Adamusiak, T.; Burdett, T.; et al.: Gene Expression Atlas update--a value-added database of microarray and sequencing-based functional genomics experiments. Nucleic Acids Res. 40(Database isue):D1077-81. 2012. PMID:22064864

Web resources:
NCBI: http://www.ncbi.nlm.nih.gov/
PFAM: http://pfam.sanger.ac.uk/
PROSITE: http://prosite.expasy.org/
Interpro: http://www.ebi.ac.uk/interpro/
ZFIN: http://zfin.org/
Expression Atlas (EMBL): http://www.ebi.ac.uk/gxa/
Ensembl: http://asia.ensembl.org/Danio_rerio/
Database of Single Nucleotide Polymorphisms (dbSNP). Bethesda (MD): National Center for Biotechnology Information, National Library of Medicine.: http://www.ncbi.nlm.nih.gov/SNP/
PRINTS from Genomenet: http://www.genome.jp/
European Nucleotide Archive: http://www.ebi.ac.uk/ena/home
UNIGENE: http://www.ncbi.nlm.nih.gov/unigene/
AMIGO Gene Ontology: http://amigo.geneontology.org
Topic revision: r2 - 2013-08-17 - RamcharanAngom
 
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