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FLASH GENE
Symbol PRICKLE2 contributors: mct/npt - updated : 17-02-2014
HGNC name prickle homolog 2 (Drosophila)
HGNC id 20340
Corresponding disease
EGI2 epilepsy, generalized, idiopathic, 2
Location 3p14.1      Physical location : 64.079.526 - 64.211.131
Synonym name prickle-like 2 (Drosophila)
Synonym symbol(s) DKFZp686D143
DNA
TYPE functioning gene
STRUCTURE 174.33 kb     8 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
ABHD6 3p21.2 abhydrolase domain containing 6 RPP14 3p21.2 ribonuclease P (14kD) PXK 3p21.2 PX domain containing serine/threonine kinase PDHB 3p21.1-p14.3 pyruvate dehydrogenase (lipoamide) beta KCTD6 3p21.2 potassium channel tetramerisation domain containing 6 ACOX2 3p14.3 acyl-Coenzyme A oxidase 2, branched chain TU3A 3p21.1 Homo sapiens TU3A protein (TU3A), mRNA. LOC389126 3 LOC389126 FAM3D 3p21.1 family with sequence similarity 3, member D FLJ42117 3p21.2 FLJ42117 protein LOC339902 3p21.2 hypothetical LOC339902 NPCR 3p21.1 nasopharyngeal carcinoma-related protein LOC131691 3p21.1 similar to peptidyl-Pro cis trans isomerase LOC391540 3 similar to coated vesicle membrane protein LOC391541 3 similar to peptidyl-Pro cis trans isomerase PTPRG 3p14.2 protein tyrosine phosphatase, receptor type, G HT021 3p21.1 HT021 FEZL 3p21.1 likely ortholog of mouse and zebrafish forebrain embryonic zinc finger-like CADPS 3p21.1-p14.3 Ca2+-dependent activator protein for secretion LOC389127 3 similar to 40S ribosomal protein S10 LOC132205 3p21.1 similar to keratin 8, type II cytoskeletal - human SYNPR 3p14.3 synaptoporin LOC132203 3p21.1 similar to hypothetical protein A430083B19 LOC391542 3 similar to hypothetical protein FLJ23834 LOC132200 3p21.1 hypothetical protein BC015210 NIF3L1BP1 3p21.1 Ngg1 interacting factor 3 like 1 binding protein 1 SCA7 3p13-p12 spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration) p44S10 3p21.1 proteasome regulatory particle subunit p44S10 PRICKLE2 3p21.1 prickle-like 2 (Drosophila) ADAMTS9 3p14.3-p14.2 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9 BAIAP1 3p14.1 BAI1-associated protein 1 SLC25A26 3p14.3 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 26 LRIG1 3p14 leucine-rich repeats and immunoglobulin-like domains 1 TA-KRP 3p14 T-cell activation kelch repeat protein SUCLG2 3p14.3 succinate-CoA ligase, GDP-forming, beta subunit LOC375350 3p14.3 COP9 pseudogene LOC151645 3p14.3 protease (prosome, macropain) 26S subunit, ATPase, 1 pseudogene FLJ25161 3p14.3-p14.2 hypothetical protein FLJ25161 LOC152122 3p14.2 hypothetical LOC152122 MGC34132 3p14.2 hypothetical protein MGC34132 TMF1 3p21-p12 TATA element modulatory factor 1 UBE1C 3p24.3-p13 ubiquitin-activating enzyme E1C (UBA3 homolog, yeast) JWA 3p14 ubiquitin-activating enzyme E1C (UBA3 homolog, yeast) LMOD3 3p14.1 leiomodin 3 (fetal) GRSP1 3p14.2 leiomodin 3 (fetal) MITF 3p14.1-p12.3 microphthalmia-associated transcription factor
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
8 - 8322 95 844 - 2003 12525887
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveesophagus   highly
 mouth   highly
Hearing/Equilibriumearinnervestibule   Homo sapiens
Nervousbrainlimbic systemhippocampus   Homo sapiens
Visualeye   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone  highly
cells
SystemCellPubmedSpeciesStageRna symbol
Hearing / Equilibriumepithelial cell Homo sapiens
cell lineage
cell lines gastric cancer cell lines
fluid/secretion
at STAGE
physiological period fetal
Text brain, cartilage, pancreatic islet
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • three LIM domains
  • one PET domain
  • Cterminal Prickle homologous domain (PKH)
  • HOMOLOGY
    interspecies homolog to xenopus Prickle
    intraspecies homolog to PRICKLE1
    Homologene
    FAMILY
  • LIM-only protein 6 family
  • prickle/espinas/testin family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    text nuclear membrane
    basic FUNCTION
  • involved in tissue polarity or planar polarity
  • function in the noncanonical WNT signaling pathway, which regulates intracellular calcium release and planar cell polarity (PCP)
  • PRICKLE1, PRICKLE2 possibly regulate positive neurite formation during brain development
  • its farnesylation is essential for its nuclear localization and nuclear localization of PRICKLE2 is critical for its function
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • PRICKLE1 and PRICKLE2 promote neurite-like process formation of neuroblastoma cells via the DVL1 dependent mechanism
  • is a novel postsynaptic density (PSD) protein that interacts with DLG4 and NMDA receptors through complex formations in the brain
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EGI2
    Susceptibility to Autism spectrum disorders (ASDs)
    Variant & Polymorphism other
  • variants causing a critical loss of PRICKLE2 function, are associated with ASD
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice with disruption in Prickle2 display behavioral abnormalities including altered social interaction, learning abnormalities and behavioral inflexibility