PRICKLE4
Prickle Planar Cell Polarity Protein 4
Gene Information Card
| Symbol | PRICKLE4 |
|---|---|
| Full Name | Prickle Planar Cell Polarity Protein 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p21.1 |
| NCBI Gene ID | 29922 ncbi.nlm.nih.gov/gene/29922 |
| Ensembl ID | ENSG00000112210 |
| UniProt ID | Q8N7M5 |
| OMIM ID | 609790 |
| HGNC ID | 29356 |
| Aliases | PRICKLE4, Prickle4, FLJ20273, MGC138290 |
Description
PRICKLE4 encodes a member of the prickle family of proteins involved in planar cell polarity (PCP) signaling. The protein contains a PET domain and three LIM domains, and it localizes to the cytoplasm and cell membrane. PRICKLE4 functions in the non-canonical Wnt/PCP pathway, regulating cytoskeletal organization and cell migration. It is expressed in multiple tissues, with highest levels in the brain and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neural tube defects | Disruption of PCP signaling leads to defective convergent extension during neurulation | OMIM 609790; PMID: 16916621 |
| Cancer (various types) | Altered PRICKLE4 expression may affect cell polarity and migration, contributing to tumor progression | COSMIC; PMID: 23535729 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.2 | Medium |
| Lung | 6.8 | Low |
| Kidney | 5.1 | Low |
| Liver | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.4 | Embryonic kidney cells |
| HeLa | 6.1 | Cervical cancer cells |
| SH-SY5Y | 11.3 | Neuroblastoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1003C>T (p.Arg335Trp) | Missense | <0.01% | Unknown functional effect |
| c.1456G>A (p.Gly486Ser) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Planar cell polarity pathway (Reactome R-HSA-4086400)
• Non-canonical Wnt signaling (KEGG hsa04310)
Protein Summary
PRICKLE4 is a 831-amino acid protein with a PET domain and three LIM domains. It interacts with VANGL2 and other PCP components to regulate cell polarity and migration. The protein is predominantly cytoplasmic but can associate with the plasma membrane. Post-translational modifications include phosphorylation, which may modulate its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRICKLE4 Knockout HEK293 Cell Line | EDJ-KQ9111 | Human | 29964 | Details Get a Quote |
| PRICKLE4 Knockout HeLa Cell Line | EDJ-KQ35623 | Human | 29964 | Details Get a Quote |
| PRICKLE4 Knockout A-549 Cell Line | EDJ-KQ64620 | Human | 29964 | Details Get a Quote |
| PRICKLE4 Knockout HCT 116 Cell Line | EDJ-KQ73072 | Human | 29964 | Details Get a Quote |
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