PALS2 (Protein Associated With LIN7 2, MAGUK P55 Family Member)
A scaffolding protein involved in cell junction organization and signaling
Gene Information Card
| Symbol | PALS2 |
|---|---|
| Full Name | Protein Associated With LIN7 2, MAGUK P55 Family Member |
| Gene Type | Protein coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 10045 ncbi.nlm.nih.gov/gene/10045 |
| Ensembl ID | ENSG00000106331 |
| UniProt ID | Q9H2B4 |
| OMIM ID | 609591 |
| HGNC ID | 17983 |
| Aliases | MPP6, LIN7C, VELI3 |
Description
PALS2 (also known as MPP6) encodes a member of the membrane-associated guanylate kinase (MAGUK) family. The protein contains PDZ, SH3, and GUK domains and functions as a scaffolding protein at cell-cell junctions, particularly in epithelial and neuronal tissues. It interacts with LIN7 and other proteins to regulate cell polarity and signal transduction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No curated evidence in OMIM, ClinVar, or COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Kidney | 6.1 | Low |
| Testis | 15.2 | Medium |
| Colon | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Moderate expression |
| HeLa | 7.8 | Low expression |
| SH-SY5Y | 14.3 | Higher expression in neuronal line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Unknown significance (ClinVar) |
| c.567_568insA | Frameshift | <0.001% | Likely loss of function (COSMIC) |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations may disrupt scaffolding function
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cell-cell junction (GO:0005911) |
| • cell junction (GO:0030054) | • chemical synaptic transmission (GO:0007268) |
| • synapse (GO:0045202) |
Pathways
• Cell junction organization (Reactome: R-HSA-446728)
• Tight junction interactions (KEGG: hsa04530)
Protein Summary
PALS2 is a 596-amino acid scaffolding protein belonging to the MAGUK p55 subfamily. It localizes to cell junctions and synapses, where it organizes multiprotein complexes involved in cell polarity, adhesion, and signaling. The protein contains one PDZ domain, one SH3 domain, and one GUK domain, enabling interactions with LIN7, CASK, and other junctional components.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PALS2 Knockout HEK293 Cell Line | EDJ-KQ2084 | Human | 51678 | Details Get a Quote |
| PALS2 Knockout A-549 Cell Line | EDJ-KQ23550 | Human | 51678 | Details Get a Quote |
| PALS2 Knockout HCT 116 Cell Line | EDJ-KQ23551 | Human | 51678 | Details Get a Quote |
| PALS2 Knockout HeLa Cell Line | EDJ-KQ23552 | Human | 51678 | Details Get a Quote |
