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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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PRICKLE2
prickle planar cell polarity protein 2
Chromosome 3 Β· 3p14.1
NCBI Gene: 166336Ensembl: ENSG00000163637.14HGNC: HGNC:20340UniProt: Q7Z3G6
27PubMed Papers
20Diseases
0Drugs
5Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cytoplasmblastocyst formationprotein localization to axonnucleussensory ataxic neuropathy, dysarthria, and ophthalmoparesisautosomal dominant non-syndromic intellectual disabilitysmoking initiationGlobal developmental delay
✦AI Summary

PRICKLE2 is a planar cell polarity (PCP) protein that functions as a key regulator of neuronal development and circuit formation. Primary function: PRICKLE2 localizes to the axon initial segment (AIS) and postsynaptic density, where it regulates ANK3/ANKG to modulate microtubule bundling and establish neuronal polarity 1. Mechanism: PRICKLE2 operates within the noncanonical Wnt/PCP signaling pathway, associating with Dishevelled1 (Dvl1) and postsynaptic density protein 95 (PSD-95) to promote neurite outgrowth and regulate synaptic architecture 23. Prickle2 protein levels are negatively regulated through Vangl2-mediated proteasomal degradation via Cullin-1 E3 ubiquitin ligase 4. Disease relevance: Loss-of-function PRICKLE2 variants cause neurodevelopmental disorders characterized by global developmental delay, behavioral difficulties, epilepsy, and autism spectrum disorder features 53. Prickle2 disruption leads to reduced dendrite branching, decreased synapse number, and diminished synaptic currents 3. Clinical significance: Heterozygous PRICKLE2 variants, both de novo and inherited, are associated with neurodevelopmental delay and autism-like phenotypes in humans, suggesting PRICKLE2 as a potential biomarker and therapeutic target for neurological disorders 56.

Sources cited
1
PRICKLE2 is a key component of the noncanonical Wnt/PCP signaling pathway with essential functions in AIS development, axon elongation, dendrite formation, synapse formation, and associations with neural tube defects, Alzheimer's disease, epilepsy, and autism spectrum disorders
PMID: 40009262
2
PRICKLE2 promotes neurite-like process formation via interaction with Dishevelled1 (Dvl1) in a Dvl1-dependent mechanism
PMID: 22218901
3
PRICKLE2 localizes to the postsynaptic density, interacts with PSD-95, and disruption causes autism-like behaviors with hippocampal synaptic dysfunction including reduced dendrite branching, synapse number, and PSD size; rare PRICKLE2 variants identified in autism patients show loss of function
PMID: 23711981
4
Heterozygous rare PRICKLE2 variants (missense, nonsense, and frameshift) cause neurodevelopmental delay, behavioral difficulties, epilepsy, and autistic features in humans
PMID: 34092786
5
PRICKLE2 protein levels are negatively regulated by Vangl2 interaction, which promotes polyubiquitination through Cullin-1 E3 ubiquitin ligase-mediated proteasomal degradation
PMID: 30814664
6
PRICKLE2 mutations show promising potential in uncovering epilepsy causes and may serve as a biomarker or therapeutic target for epilepsy treatment
PMID: 39754765
Disease Associationsβ“˜20
sensory ataxic neuropathy, dysarthria, and ophthalmoparesisOpen Targets
0.47Moderate
autosomal dominant non-syndromic intellectual disabilityOpen Targets
0.40Weak
smoking initiationOpen Targets
0.38Weak
Global developmental delayOpen Targets
0.37Weak
Neurodevelopmental disorderOpen Targets
0.37Weak
smoking cessationOpen Targets
0.36Weak
Sensory ataxic neuropathy - dysarthria - ophthalmoparesisOpen Targets
0.34Weak
placental retentionOpen Targets
0.34Weak
Rolandic epilepsyOpen Targets
0.33Weak
self-limited epilepsy with centrotemporal spikesOpen Targets
0.33Weak
glaucomaOpen Targets
0.32Weak
open-angle glaucomaOpen Targets
0.31Weak
diabetes mellitusOpen Targets
0.29Weak
liver diseaseOpen Targets
0.27Weak
uveitisOpen Targets
0.26Weak
severe acute respiratory syndromeOpen Targets
0.26Weak
obesityOpen Targets
0.24Weak
ventricular fibrillationOpen Targets
0.24Weak
multiple sclerosisOpen Targets
0.23Weak
COVID-19Open Targets
0.23Weak
Pathogenic Variants5
NM_198859.4(PRICKLE2):c.1286_1287del (p.Ser429fs)Likely pathogenic
See cases
β˜…β˜†β˜†β˜†2021β†’ Residue 429
NM_198859.4(PRICKLE2):c.680C>G (p.Thr227Arg)Likely pathogenic
See cases
β˜…β˜†β˜†β˜†2021β†’ Residue 227
NM_198859.4(PRICKLE2):c.122C>T (p.Pro41Leu)Likely pathogenic
See cases
β˜…β˜†β˜†β˜†2021β†’ Residue 41
NM_198859.4(PRICKLE2):c.214C>T (p.Arg72Ter)Pathogenic
See cases
β˜…β˜†β˜†β˜†2021β†’ Residue 72
NM_198859.4(PRICKLE2):c.380del (p.Gly127fs)Pathogenic
Progressive myoclonic epilepsy type 5
β˜…β˜†β˜†β˜†2013β†’ Residue 127
View on ClinVar β†—
Related Genes
VANGL1Protein interaction98%DVL1Protein interaction97%DVL2Protein interaction97%CELSR1Protein interaction97%ANKRD6Protein interaction85%DLG4Protein interaction71%
Tissue Expression6 tissues
Ovary
100%
Brain
82%
Lung
80%
Heart
75%
Liver
27%
Bone Marrow
4%
Gene Interaction Network
Click a node to explore
PRICKLE2VANGL1DVL1DVL2CELSR1ANKRD6DLG4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q7Z3G6
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.34Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.23 [0.16–0.34]
RankingsWhere PRICKLE2 stands among ~20K protein-coding genes
  • #12,650of 20,598
    Most Researched27
  • #3,624of 5,498
    Most Pathogenic Variants5
  • #1,471of 17,882
    Most Constrained (LOEUF)0.34 Β· top 10%
Genes detectedPRICKLE2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Evolving Insights into Prickle2 in Neurodevelopment and Neurological Disorders.
PMID: 40009262
Mol Neurobiol Β· 2025
1.00
2
Decoding Epilepsy: Prickle2 and Multifaceted Molecular Pathway Connections.
PMID: 39754765
Curr Pharm Des Β· 2025
0.90
3
Identification and characterization of human PRICKLE1 and PRICKLE2 genes as well as mouse Prickle1 and Prickle2 genes homologous to Drosophila tissue polarity gene prickle.
PMID: 12525887
Int J Mol Med Β· 2003
0.80
4
Role of Prickle1 and Prickle2 in neurite outgrowth in murine neuroblastoma cells.
PMID: 22218901
Methods Mol Biol Β· 2012
0.70
5
PRICKLE2 revisited-further evidence implicating PRICKLE2 in neurodevelopmental disorders.
PMID: 34092786
Eur J Hum Genet Β· 2021
0.60