Prickle planar cell polarity protein 2

Prickle planar cell polarity protein 2 is a protein that in humans is encoded by the PRICKLE2 gene. ^[5]

PRICKLE2
Identifiers
Aliases	PRICKLE2, EPM5, prickle planar cell polarity protein 2
External IDs	OMIM: 608501; MGI: 1925144; HomoloGene: 17889; GeneCards: PRICKLE2; OMA:PRICKLE2 - orthologs
Gene location (Human) Chr. Chromosome 3 (human)[1] Band 3p14.1 Start 64,092,236 bp[1] End 64,445,476 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6|6 D1 Start 92,347,889 bp[2] End 92,683,136 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tail of epididymis epithelium of colon middle temporal gyrus entorhinal cortex Brodmann area 46 postcentral gyrus superior frontal gyrus Brodmann area 23 myometrium endometrium Top expressed in piriform cortex subdivision of hippocampus Region I of hippocampus proper amygdala primary motor cortex anterior amygdaloid area subiculum hippocampus proper olfactory tubercle prefrontal cortex More reference expression data BioGPS n/a
Gene ontology Molecular function zinc ion binding metal ion binding Cellular component cytoplasm nuclear membrane membrane nucleus Biological process Wnt signaling pathway, planar cell polarity pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 166336 243548 Ensembl ENSG00000163637 ENSMUSG00000030020 UniProt Q7Z3G6 Q80Y24 RefSeq (mRNA) NM_198859 NM_001370528 NM_001081146 NM_001134459 NM_001134460 NM_001134461 RefSeq (protein) NP_942559 NP_001357457 NP_001074615 NP_001127931 NP_001127932 NP_001127933 NP_001391015 Location (UCSC) Chr 3: 64.09 – 64.45 Mb Chr 6: 92.35 – 92.68 Mb PubMed search [3] [4]
Wikidata
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Function

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].