MAGI3 Gene: Membrane Associated Guanylate Kinase, WW And PDZ Domain Containing 3
Comprehensive genomic and functional analysis of MAGI3, a scaffold protein implicated in cell signaling and cancer.
Gene Information Card
| Symbol | MAGI3 |
|---|---|
| Full Name | Membrane Associated Guanylate Kinase, WW And PDZ Domain Containing 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p13.2 |
| NCBI Gene ID | 260425 ncbi.nlm.nih.gov/gene/260425 |
| Ensembl ID | ENSG00000116285 |
| UniProt ID | Q5TCQ9 |
| OMIM ID | 611422 |
| HGNC ID | 29670 |
| Aliases | MAGI-3, WWP3, FLJ21616, KIAA1634 |
Description
MAGI3 encodes a member of the membrane-associated guanylate kinase (MAGUK) family. The protein contains multiple PDZ domains, a WW domain, and a guanylate kinase-like domain, functioning as a scaffold at cell junctions. It is involved in signal transduction, cell polarity, and receptor clustering. MAGI3 interacts with various proteins including PTEN, beta-catenin, and NMDA receptors, and has been implicated in tumor suppression and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Loss of MAGI3 expression disrupts PTEN membrane localization and Akt signaling, promoting tumorigenesis. | PMID: 21502514 |
| Colorectal Cancer | MAGI3 downregulation correlates with beta-catenin nuclear accumulation and Wnt pathway activation. | PMID: 22962438 |
| Prostate Cancer | MAGI3 acts as a scaffold for PTEN, and its loss enhances PI3K/Akt signaling. | PMID: 21502514 |
| Lung Cancer | MAGI3 promoter hypermethylation leads to reduced expression and poor prognosis. | PMID: 23348507 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Breast | 6.1 | Low |
| Colon | 5.4 | Low |
| Prostate | 7.2 | Low |
| Kidney | 9.8 | Low |
| Liver | 4.0 | Not detected |
| Heart | 3.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Embryonic kidney cells; moderate expression |
| MCF7 | 8.7 | Breast cancer cell line; reduced expression |
| HCT116 | 6.3 | Colorectal carcinoma; low expression |
| A549 | 5.1 | Lung adenocarcinoma; low expression |
| PC3 | 4.8 | Prostate cancer; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Truncation; loss of PDZ domains; likely loss-of-function |
| c.567_568insA (p.Glu190fs) | Frameshift | Rare | Premature stop; loss of function |
| c.2101G>A (p.Gly701Arg) | Missense | Rare | Unknown; predicted damaging by SIFT |
| c.3456_3457del (p.Leu1152fs) | Frameshift | Rare | Loss of C-terminal PDZ domain; loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein lacking functional PDZ or WW domains.
Gain of Function (GOF)
No gain-of-function mutations reported in MAGI3.
Dominant Negative (DN)
No dominant-negative mutations reported in MAGI3.
View complete mutation data：
Gene Ontology (GO)
Pathways
• PI3K/Akt signaling pathway
• Wnt signaling pathway
• PTEN regulation
• Cell junction organization
• NMDA receptor signaling
Protein Summary
MAGI3 is a 1,306-amino acid scaffold protein with multiple PDZ domains (PDZ1-5), a WW domain, and a guanylate kinase-like domain. It localizes to cell junctions and the plasma membrane, where it organizes signaling complexes. MAGI3 directly binds PTEN, enhancing PTEN membrane recruitment and suppressing PI3K/Akt signaling. It also interacts with beta-catenin, modulating Wnt pathway activity. Loss of MAGI3 expression is observed in several cancers and correlates with poor prognosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAGI3 Knockout HEK293 Cell Line | EDJ-KQ1306 | Human | 260425 | Details Get a Quote |
| MAGI3 Knockout A-549 Cell Line | EDJ-KQ20726 | Human | 260425 | Details Get a Quote |
| MAGI3 Knockout HCT 116 Cell Line | EDJ-KQ20727 | Human | 260425 | Details Get a Quote |
| MAGI3 Knockout HeLa Cell Line | EDJ-KQ20728 | Human | 260425 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
