PRICKLE2
Prickle Planar Cell Polarity Protein 2
Gene Information Card
| Symbol | PRICKLE2 |
|---|---|
| Full Name | Prickle Planar Cell Polarity Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p14.1 |
| NCBI Gene ID | 166336 ncbi.nlm.nih.gov/gene/166336 |
| Ensembl ID | ENSG00000163637 |
| UniProt ID | Q7Z3G6 |
| OMIM ID | 608501 |
| HGNC ID | 18395 |
| Aliases | PRICKLE2, EPM5, Prickle-like 2 |
Description
PRICKLE2 encodes a protein involved in the planar cell polarity (PCP) pathway, a non-canonical Wnt signaling cascade that regulates tissue polarity, cell migration, and neuronal development. The protein contains a PET domain and three LIM domains, mediating protein-protein interactions. Mutations in PRICKLE2 are associated with progressive myoclonus epilepsy type 5 (EPM5) and other neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Progressive myoclonus epilepsy 5 (EPM5) | Loss-of-function mutations disrupt PCP signaling, leading to neuronal hyperexcitability and seizure susceptibility. | ClinVar, OMIM |
| Epilepsy, idiopathic generalized | Rare missense variants may impair protein stability or interaction with PCP pathway components. | ClinVar, NCBI |
| Neurodevelopmental disorders | Disrupted PCP signaling affects neuronal migration and dendritic spine morphogenesis. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.2 | Low |
| Heart | 6.1 | Low |
| Kidney | 5.3 | Low |
| Liver | 2.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 14.8 | Moderate expression |
| HEK293 (embryonic kidney) | 9.2 | Low expression |
| HeLa (cervical carcinoma) | 6.5 | Low expression |
| HepG2 (hepatocellular carcinoma) | 3.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.214C>T (p.Arg72Cys) | Missense | Rare | Alters LIM domain, reduces protein stability |
| c.1045C>T (p.Arg349*) | Nonsense | Rare | Premature stop, loss of function |
| c.1586G>A (p.Arg529His) | Missense | Rare | Impairs interaction with VANGL2 |
| c.1972_1973del (p.Leu658Valfs*12) | Frameshift | Rare | Loss of function, associated with EPM5 |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg349*, p.Leu658Valfs*12) lead to truncated protein or nonsense-mediated decay, reducing PCP signaling.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Missense variants (e.g., p.Arg72Cys, p.Arg529His) may act as dominant-negative by disrupting protein-protein interactions in the PCP complex.
View complete mutation data：
Gene Ontology (GO)
| • planar cell polarity pathway involved in neural tube closure | • Wnt signaling pathway |
| • planar cell polarity pathway | • protein binding |
| • LIM domain binding | • cell migration |
| • dendrite morphogenesis |
Pathways
• Non-canonical Wnt/PCP signaling pathway
• Planar cell polarity pathway
Protein Summary
PRICKLE2 is a 831-amino acid protein containing a PET domain and three LIM domains. It localizes to the cytoplasm and cell membrane, where it interacts with VANGL2 and other PCP components to coordinate asymmetric cell division and tissue polarity. In neurons, PRICKLE2 regulates dendritic spine formation and synaptic function. Loss of function leads to epilepsy phenotypes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRICKLE2 Knockout HEK293 Cell Line | EDJ-KQ14892 | Human | 166336 | Details Get a Quote |
| PRICKLE2 Knockout A-549 Cell Line | EDJ-KQ45344 | Human | 166336 | Details Get a Quote |
| PRICKLE2 Knockout HeLa Cell Line | EDJ-KQ58894 | Human | 166336 | Details Get a Quote |
| PRICKLE2 Knockout HCT 116 Cell Line | EDJ-KQ75777 | Human | 166336 | Details Get a Quote |
