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pak2a

p21 (CDKN1A)-activated kinase 2a

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GeneInformationForm
GeneName pak2a
Aliases ENSDARG:ENSDARG00000068177; wu:fb71h01, zgc:91798, redhead , si:dz198m22.1, pak2 , rhd , cb422 , p21 (CDKN1A)-activated kinase 2a
Description p21 (CDKN1A)-activated kinase 2a
GenomicLocation chromosome 2 36337663-36357699 forward strand
ExternalIDs Entrez:266749; EMBL:BC076511; UniGene:27034; ZFIN:ZDB-GENE-021011-2
TranscriptID ENSDART:ENSDART00000098417
mRNA NCBI:NM_001002717
GeneDescription PAK2 is a kinase that acts downstream of the Rho-family GTPases CDC42 and RAC and has been implicated in angiogenesis, regulation of cytoskeletal structure, and endothelial cell migration and contractility among other functions.
GeneFunction Buchner et al. (2007) showed that the redhead (rhd) phenotype is caused by a hypomorphic mutation in p21-activated kinase 2a (pak2a). During this study they hypothesized that the function of PAKs in the formation of vessels (angiogenesis) is different from its role in regulating endothelial cell permeability in already formed vessels. In the zebrafish, the presence of two orthologs of PAK2 allowed them to dissect the critical role of Pak2 in the control of CNS vascular integrity in vivo, without the widespread defects seen in mammals. They have found that that loss of Pak2b increases the severity of the phenotype in rhd mutants suggests an overlapping function in the vasculature for these two paralogs. However, loss of Pak2b by itself does not cause hemorrhage, and pak2b overexpression fails to rescue the rhd phenotype. Finally they have provide in vivo evidence for a critical function of Pak2 in vascular integrity and demonstrate a severe disease phenotype resulting from loss of Pak2 function.Liu et al. (2007) identified a unique cerebrovascular mutation in the zebrafish bubblehead (bbh) mutant, affecting the integrity of blood vessels supplying the brain. The zebrafish bubblehead (bbh) mutant exhibits hydrocephalus and severe cranial hemorrhage during early embryogenesis, whereas blood vessels in other regions of the embryo appear intact. They have found by Positional cloning that bbh reveals a hypomorphic mutation in βPix, a binding partner for the p21-activated kinase (Pak) and a guanine nucleotide exchange factor for Rac and Cdc42. By knockdown of specific βPix splice variants, reported that they play unique roles in embryonic vascular stabilization or hydrocephalus. Finally, they have shown that Pak2a signaling is downstream of βPix.
GeneCloning The gene is contained in PAC clone BUSM1-198M22 (Vector: pCYPAC-6).
GeneStructure The gene encodes for a single transcript ENSDART00000098417 which consist of 14 exons and is 2,681bps in length. The protein product (ENSDARP00000089188) consists of 517 aresidues.
Protein ENSDARP00000089188
ProteinDomainandFamilies has domain InterPro:IPR000095; InterPro:IPR000719; InterPro:IPR002290; InterPro:IPR008271; InterPro:IPR015750; InterPro:IPR015750; InterPro:IPR017442
Motifs has motif Prosite:PS00107; Prosite:PS00108; PFAM:PF00069; PFAM:PF00786; PFAM:PF07714; PRINTS:PR00109;
Expression ArrayExpress:ENSDARG00000068177
GeneOntology GO:0006468; GO:0005524; GO:0004674; GO:0004672; GO:0000166; GO:0016740; GO:0016301;
Orthologs

VariationAndRepeats

DisordersAndMutations redhead (rhd) mutant phenotype is caused by a hypomorphic mutation in p21-activated kinase 2a (pak2a). ZFINID:ZDB-GENO-071121-3: ZFINID:ZDB-GENO-130311-1: ZFINID:ZDB-GENO-071121-1
RelatedPubMedArticles Berghmans S, Murphey RD, Wienholds E, Neuberg D, Kutok JL, Fletcher CD, Morris JP, Liu TX, Schulte-Merker S, Kanki JP, Plasterk R, Zon LI, Look AT. tp53 mutant zebrafish develop malignant peripheral nerve sheath tumors. Proc Natl Acad Sci U S A. 2005 Jan 11;102(2):407-12. Epub 2005 Jan 3. PMID:15630097 Liu J, Fraser SD, Faloon PW, Rollins EL, Vom Berg J, Starovic-Subota O, Laliberte AL, Chen JN, Serluca FC, Childs SJ. A betaPix Pak2a signaling pathway regulates cerebral vascular stability in zebrafish. Proc Natl Acad Sci U S A. 2007 Aug 28;104(35):13990-5. Epub 2007 Jun 15. PMID:17573532 Buchner DA, Su F, Yamaoka JS, Kamei M, Shavit JA, Barthel LK, McGee B, Amigo JD, Kim S, Hanosh AW, Jagadeeswaran P, Goldman D, Lawson ND, Raymond PA, Weinstein BM, Ginsburg D, Lyons SE. pak2a mutations cause cerebral hemorrhage in redhead zebrafish. Proc Natl Acad Sci U S A. 2007 Aug 28;104(35):13996-4001. Epub 2007 Aug 22. PMID:17715297 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 - 2013-07-09 - RamcharanAngom
 
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