This gene encodes a homolog of Drosophila prickle. The exact function of this gene is not known, however, studies in mice suggest that it may be involved in seizure prevention. Mutations in this gene are associated with progressive myoclonic epilepsy type 5. [provided by RefSeq, Dec 2011].
ReferencesEdit
^ abcGRCh38: Ensembl release 89: ENSG00000163637 - Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000030020 - Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
Katoh M, Katoh M (February 2003). "Identification and characterization of human PRICKLE1 and PRICKLE2 genes as well as mouse Prickle1 and Prickle2 genes homologous to Drosophila tissue polarity gene prickle". Int. J. Mol. Med. 11 (2): 249–56. doi:10.3892/ijmm.11.2.249. PMID 12525887.
Daulat AM, Luu O, Sing A, Zhang L, Wrana JL, McNeill H, Winklbauer R, Angers S (January 2012). "Mink1 regulates β-catenin-independent Wnt signaling via Prickle phosphorylation". Mol. Cell. Biol. 32 (1): 173–85. doi:10.1128/MCB.06320-11. PMC3255712. PMID 22037766.
prickle, planar, cell, polarity, protein, protein, that, humans, encoded, prickle2, gene, prickle2identifiersaliasesprickle2, epm5, prickle, planar, cell, polarity, protein, 2external, idsomim, 608501, 1925144, homologene, 17889, genecards, prickle2gene, locat. Prickle planar cell polarity protein 2 is a protein that in humans is encoded by the PRICKLE2 gene 5 PRICKLE2IdentifiersAliasesPRICKLE2 EPM5 prickle planar cell polarity protein 2External IDsOMIM 608501 MGI 1925144 HomoloGene 17889 GeneCards PRICKLE2Gene location Human Chr Chromosome 3 human 1 Band3p14 1Start64 092 236 bp 1 End64 445 476 bp 1 Gene location Mouse Chr Chromosome 6 mouse 2 Band6 6 D1Start92 347 889 bp 2 End92 683 136 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inmiddle temporal gyrusentorhinal cortexBrodmann area 46postcentral gyrussuperior frontal gyrusBrodmann area 23myometriumendometriumsmooth muscle tissueseminal vesiculaTop expressed inpiriform cortexRegion I of hippocampus properamygdalaprimary motor cortexsubiculumhippocampus properolfactory tubercleprefrontal cortexcingulate gyrusnucleus accumbensMore reference expression dataBioGPSn aGene ontologyMolecular functionzinc ion binding metal ion bindingCellular componentcytoplasm nuclear membrane membrane nucleusBiological processWnt signaling pathway planar cell polarity pathwaySources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez166336243548EnsemblENSG00000163637ENSMUSG00000030020UniProtQ7Z3G6Q80Y24RefSeq mRNA NM 198859NM 001370528NM 001081146NM 001134459NM 001134460NM 001134461RefSeq protein NP 942559NP 001357457NP 001074615NP 001127931NP 001127932NP 001127933NP 001391015Location UCSC Chr 3 64 09 64 45 MbChr 6 92 35 92 68 MbPubMed search 3 4 WikidataView Edit HumanView Edit MouseFunction EditThis gene encodes a homolog of Drosophila prickle The exact function of this gene is not known however studies in mice suggest that it may be involved in seizure prevention Mutations in this gene are associated with progressive myoclonic epilepsy type 5 provided by RefSeq Dec 2011 References Edit a b c GRCh38 Ensembl release 89 ENSG00000163637 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000030020 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Entrez Gene Prickle planar cell polarity protein 2 Retrieved 2018 02 20 Further reading EditKatoh M Katoh M February 2003 Identification and characterization of human PRICKLE1 and PRICKLE2 genes as well as mouse Prickle1 and Prickle2 genes homologous to Drosophila tissue polarity gene prickle Int J Mol Med 11 2 249 56 doi 10 3892 ijmm 11 2 249 PMID 12525887 Daulat AM Luu O Sing A Zhang L Wrana JL McNeill H Winklbauer R Angers S January 2012 Mink1 regulates b catenin independent Wnt signaling via Prickle phosphorylation Mol Cell Biol 32 1 173 85 doi 10 1128 MCB 06320 11 PMC 3255712 PMID 22037766 This article incorporates text from the United States National Library of Medicine which is in the public domain This article on a gene on human chromosome 3 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title Prickle planar cell polarity protein 2 amp oldid 1142698564, wikipedia, wiki, book, books, library,
