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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MPP2
MAGUK p55 scaffold protein 2
Chromosome 17 · 17q21.31
NCBI Gene: 4355Ensembl: ENSG00000108852.16HGNC: HGNC:7220UniProt: A0A0A0MRU0
43PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytoskeletonprotein bindingexcitatory postsynaptic potentiallong-term synaptic potentiationmetabolic syndromebiliary tract diseaseVaricose veinscolorectal cancer
✦AI Summary

MPP2 (MAGUK p55 scaffold protein 2) is a member of the MAGUK (membrane-associated guanylate kinase) family that functions as a scaffold protein in multiple cellular contexts. The protein contains characteristic MAGUK domains including L27, PDZ, SH3, and GuKc domains 1. MPP2 plays a role in cellular transformation, as demonstrated by its interaction with HPV16 E7 protein, where it enhances E7/Ha-Ras co-transformation of rat embryo fibroblasts and stimulates E7-mediated transcriptional activity 2. In colorectal cancer, MPP2 expression is negatively regulated by DNA methylation and serves as an independent prognostic risk factor, with high expression associated with poor prognosis 3. MPP2 knockdown significantly inhibits SW480 cell proliferation via the mTOR signaling pathway 3. The protein also shows involvement in immune regulation, demonstrating close relationships with immune checkpoint molecules and immune cell infiltration, particularly CD4+ T cells 3. Additionally, a de novo missense mutation (K315N) in MPP2 increases susceptibility to Vogt-Koyanagi-Harada disease through enhanced binding to ANXA2 and activation of the ERK3/IL-17E pathway 4. MPP2 has been identified as a potential antigen for colon cancer mRNA vaccines due to its immunological relevance 5.

Sources cited
1
MPP2 contains characteristic MAGUK domains including L27, PDZ, SH3, and GuKc domains
PMID: 14719143
2
MPP2 interacts with HPV16 E7 protein and enhances E7/Ha-Ras co-transformation
PMID: 10523841
3
MPP2 expression is negatively regulated by DNA methylation and serves as a prognostic risk factor in colorectal cancer
PMID: 39491021
4
MPP2 knockdown inhibits cell proliferation via mTOR signaling and shows relationships with immune cell infiltration
PMID: 39491021
5
MPP2 K315N mutation increases VKH disease susceptibility through ANXA2 binding and ERK3/IL-17E pathway activation
PMID: 37828081
6
MPP2 identified as potential antigen for colon cancer mRNA vaccines
PMID: 40260289
Disease Associationsⓘ20
metabolic syndromeOpen Targets
0.24Weak
biliary tract diseaseOpen Targets
0.10Suggestive
Varicose veinsOpen Targets
0.09Suggestive
colorectal cancerOpen Targets
0.08Suggestive
X-linked retinal dysplasiaOpen Targets
0.07Suggestive
liver cancerOpen Targets
0.07Suggestive
age-related macular degenerationOpen Targets
0.07Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.06Suggestive
Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitusOpen Targets
0.06Suggestive
muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndromeOpen Targets
0.06Suggestive
choroidal dystrophy, central areolar, 1Open Targets
0.06Suggestive
pathological myopiaOpen Targets
0.06Suggestive
severe early-childhood-onset retinal dystrophyOpen Targets
0.05Suggestive
Stargardt diseaseOpen Targets
0.05Suggestive
colorectal carcinomaOpen Targets
0.05Suggestive
Familial drusenOpen Targets
0.04Suggestive
age related macular degeneration 11Open Targets
0.04Suggestive
age related macular degeneration 2Open Targets
0.04Suggestive
age related macular degeneration 6Open Targets
0.04Suggestive
age related macular degeneration 7Open Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
LIN7AProtein interaction99%LIN7CProtein interaction91%DLG1Protein interaction88%TJAP1Protein interaction85%GRIN2BProtein interaction84%PALS2Protein interaction83%
Tissue Expression6 tissues
Brain
100%
Heart
91%
Bone Marrow
21%
Ovary
20%
Lung
5%
Liver
1%
Gene Interaction Network
Click a node to explore
MPP2LIN7ALIN7CDLG1TJAP1GRIN2BPALS2
PROTEIN STRUCTURE
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PDB2E7K · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.88LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.68 [0.53–0.88]
RankingsWhere MPP2 stands among ~20K protein-coding genes
  • #9,758of 20,598
    Most Researched43
  • #7,838of 17,882
    Most Constrained (LOEUF)0.88
Genes detectedMPP2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A de novo missense mutation in MPP2 confers an increased risk of Vogt-Koyanagi-Harada disease as shown by trio-based whole-exome sequencing.
PMID: 37828081
Cell Mol Immunol · 2023
1.00
2
Identification of regulatory networks in HSCs and their immediate progeny via integrated proteome, transcriptome, and DNA methylome analysis.
PMID: 25158935
Cell Stem Cell · 2014
0.90
3
Effect of MPP2 and its DNA methylation levels on prognosis of colorectal cancer patients.
PMID: 39491021
World J Surg Oncol · 2024
0.80
4
CXCR4 signaling determines the fate of hematopoietic multipotent progenitors by stimulating mTOR activity and mitochondrial metabolism.
PMID: 39471249
Sci Signal · 2024
0.70
5
Interaction of the fork head domain transcription factor MPP2 with the human papilloma virus 16 E7 protein: enhancement of transformation and transactivation.
PMID: 10523841
Oncogene · 1999
0.60