MPP2: MAGUK p55 Scaffold Protein 2
A member of the membrane-associated guanylate kinase (MAGUK) family involved in cell junction organization and signaling.
Gene Information Card
| Symbol | MPP2 |
|---|---|
| Full Name | MAGUK p55 scaffold protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q12-q21.1 |
| NCBI Gene ID | 4355 ncbi.nlm.nih.gov/gene/4355 |
| Ensembl ID | ENSG00000108379 |
| UniProt ID | Q14168 |
| OMIM ID | 600723 |
| HGNC ID | 7220 |
| Aliases | DLG2, PSD-93, Chapsyn-110 |
Description
MPP2 (MAGUK p55 scaffold protein 2) encodes a member of the membrane-associated guanylate kinase (MAGUK) family. The protein contains PDZ, SH3, and guanylate kinase domains and functions as a scaffold at cell junctions, particularly in epithelial and neuronal tissues. It is involved in cell polarity, signal transduction, and synaptic organization. MPP2 is also known as DLG2 (discs large homolog 2) and is implicated in neurodevelopmental disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered synaptic scaffolding and signaling | ClinVar, OMIM |
| Autism spectrum disorder | Disruption of synaptic protein complexes | ClinVar, OMIM |
| Colorectal cancer | Loss of cell polarity and junction integrity | COSMIC, NCBI Gene |
| Breast cancer | Dysregulation of scaffold-mediated signaling | COSMIC, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 45.2 | High |
| Lung | 12.8 | Medium |
| Kidney | 8.5 | Medium |
| Liver | 3.1 | Low |
| Heart | 2.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 62.3 | Neuronal model |
| HEK293 (embryonic kidney) | 18.7 | Epithelial model |
| MCF7 (breast cancer) | 9.4 | Cancer cell line |
| HCT116 (colorectal cancer) | 7.8 | Cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | 0.01% | Loss of function |
| c.567G>A (p.Trp189*) | Nonsense | 0.005% | Loss of function |
| c.890A>G (p.Tyr297Cys) | Missense | 0.02% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons and truncated protein.
Gain of Function (GOF)
Not reported in MPP2.
Dominant Negative (DN)
Not reported in MPP2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• MAGUK signaling pathway
• Cell junction organization
• Synaptic scaffolding
Protein Summary
MPP2 is a 870-amino acid scaffold protein with three PDZ domains, one SH3 domain, and one guanylate kinase domain. It localizes to cell junctions and synapses, where it organizes signaling complexes and maintains cell polarity. The protein interacts with ion channels, receptors, and cytoskeletal elements. Mutations in MPP2 are associated with neuropsychiatric disorders and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MPP2 Knockout HEK293 Cell Line | EDJ-KQ2772 | Human | 4355 | Details Get a Quote |
| MPP2 Knockout A-549 Cell Line | EDJ-KQ23680 | Human | 4355 | Details Get a Quote |
| MPP2 Knockout HCT 116 Cell Line | EDJ-KQ23681 | Human | 4355 | Details Get a Quote |
| MPP2 Knockout HeLa Cell Line | EDJ-KQ23682 | Human | 4355 | Details Get a Quote |
