PRICKLE3
Prickle Planar Cell Polarity Protein 3
Gene Information Card
| Symbol | PRICKLE3 |
|---|---|
| Full Name | prickle planar cell polarity protein 3 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq26.3 |
| NCBI Gene ID | 64922 ncbi.nlm.nih.gov/gene/64922 |
| Ensembl ID | ENSG00000102144 |
| UniProt ID | Q8N7L0 |
| OMIM ID | 300831 |
| HGNC ID | 18395 |
| Aliases | Prickle3, FLJ20607, MGC138290 |
Description
PRICKLE3 encodes a member of the prickle family of proteins involved in planar cell polarity (PCP) signaling, a non-canonical Wnt pathway that regulates tissue polarity and cell movement. The protein contains three LIM domains and a PET domain, and localizes to the cytoplasm and cell junctions. PRICKLE3 is essential for ciliary function and has been implicated in ciliopathies, particularly nephronophthisis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nephronophthisis | Loss of PRICKLE3 disrupts ciliary signaling and renal tubular integrity | ClinVar, OMIM |
| Joubert syndrome (related) | Defective PCP pathway impairs cerebellar and renal development | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 8.2 | Medium |
| Brain | 5.1 | Low |
| Testis | 4.3 | Low |
| Liver | 2.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 6.5 | Moderate expression |
| HeLa | 4.8 | Low expression |
| HepG2 | 2.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113*) | Nonsense | Rare | Loss of function; associated with nephronophthisis |
| c.502G>A (p.Gly168Arg) | Missense | Rare | Likely damaging; disrupts LIM domain |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein and loss of PCP signaling.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not documented for PRICKLE3.
View complete mutation data：
Gene Ontology (GO)
| • planar cell polarity | • non-canonical Wnt signaling pathway |
| • cilium assembly | • cell-cell junction |
| • LIM domain binding |
Pathways
• Planar Cell Polarity (PCP) pathway
• Wnt signaling pathway
Protein Summary
PRICKLE3 is a 833-amino acid protein with three LIM zinc-binding domains and a PET domain. It interacts with Dishevelled and other PCP components to regulate asymmetric cell division and ciliary orientation. The protein is widely expressed, with highest levels in kidney and brain, and localizes to the cytoplasm and cell junctions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRICKLE3 Knockout HEK293 Cell Line | EDJ-KQ324 | Human | 4007 | Details Get a Quote |
| PRICKLE3 Knockout A-549 Cell Line | EDJ-KQ18479 | Human | 4007 | Details Get a Quote |
| PRICKLE3 Knockout HCT 116 Cell Line | EDJ-KQ18480 | Human | 4007 | Details Get a Quote |
| PRICKLE3 Knockout HeLa Cell Line | EDJ-KQ18481 | Human | 4007 | Details Get a Quote |
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