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FLASH GENE

Symbol

PRICKLE2

contributors: mct/npt - updated : 17-02-2014

HGNC name	prickle homolog 2 (Drosophila)
HGNC id	20340

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_198859 8 - 8322 NP_942559 95 844 - 2003 12525887

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive esophagus       highly   mouth       highly Hearing/Equilibrium ear inner vestibule     Homo sapiens Nervous brain limbic system hippocampus     Homo sapiens Visual eye       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone     highly

cells

System Cell Pubmed Species Stage Rna symbol Hearing / Equilibrium epithelial 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
	PRICKLE2 and IGSF9B coordinately regulate the cytoarchitecture of the axon initial segment

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
	PRICKLE2 regulates ANK3 distribution by controlling the proper localization of IGSF9B

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