MPP3

Chr 17

MAGUK p55 scaffold protein 3

Also known as: DLG3

NCBI Gene: 4356UniProt: Q13368

This gene product is a member of a family of membrane-associated proteins termed MAGUKs (membrane-associated guanylate kinase homologs). MAGUKs interact with the cytoskeleton and regulate cell proliferation, signaling pathways, and intracellular junctions. This protein contains a conserved sequence, called the SH3 (src homology 3) motif, found in several other proteins that associate with the cytoskeleton and are suspected to play important roles in signal transduction. Alternatively spliced transcript variants have been identified. One transcript variant is experimentally supported, but it doesn't encode a protein. [provided by RefSeq, Jul 2008]

0
Active trials
95
ClinVar variants
8
Pathogenic / LP
1.7
Missense Z
0.63
LOEUF
5
Pubs (2 yr)
Clinical Summary— MPP3
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
8 Pathogenic / Likely Pathogenic· 84 VUS of 95 total submissions
Some data sources returned errors (1)

ensembl: TimeoutError: The operation was aborted due to timeout

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.63LOEUF
pLI 0.000
Z-score 3.36
OE 0.42 (0.28–0.63)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
1.72Z-score
OE missense 0.74 (0.67–0.82)
261 obs / 351.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.42 (0.28–0.63)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.74 (0.67–0.82)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.91
0≤1.21.6
LoF obs/exp: 16 / 38.5Missense obs/exp: 261 / 351.8Syn Z: 0.90

ClinVar Variant Classifications

95 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic8
VUS84
Likely Benign3
8
Pathogenic
84
VUS
3
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
8
0
8
Likely Pathogenic
0
0
0
0
0
VUS
0
74
10
0
84
Likely Benign
0
2
1
0
3
Benign
0
0
0
0
0
Total07619095

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

MPP3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
MPP3 inactivation by promoter CpG islands hypermethylation in colorectal carcinogenesis.
Feng X et al.·Cancer Biomark
2012
Identification of key pathways and genes in nasopharyngeal carcinoma based on WGCNA.
Dai Y et al.·Auris Nasus Larynx
2023
Membrane palmitoylated protein 3 promotes hepatocellular carcinoma cell migration and invasion via up-regulating matrix metalloproteinase 1.
Ma H et al.·Cancer Lett
2014
The 'analysis of gene expression and biomarkers for point-of-care decision support in Sepsis' study; temporal clinical parameter analysis and validation of early diagnostic biomarker signatures for severe inflammation andsepsis-SIRS discrimination.
Szakmany T et al.·Front Immunol
2024
Identification of blood biomarkers for psychosis using convergent functional genomics.
Kurian SM et al.·Mol Psychiatry
2011Functional
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Effects of a mineralization-promoting peptide on the physical and chemical properties of mineral trioxide aggregate.
Öztürk Z et al.·J Mech Behav Biomed Mater
2023
In vitro caries-preventive effect of a mineralization-promoting peptide combined with fluoride gel on sound primary teeth.
Yaşar M et al.·Int J Paediatr Dent
2023
EBF1 primes B-lymphoid enhancers and limits the myeloid bias in murine multipotent progenitors
Lenaerts A et al.·J Exp Med
2022
Identification of Shared Signature Genes and Immune Microenvironment Subtypes for Heart Failure and Chronic Kidney Disease Based on Machine Learning
Wang X et al.·J Inflamm Res
2024
Unfolded protein response signaling promotes myeloid cell production and cooperates with oncogenic mutation.
Choi H et al.·bioRxiv
2025
[Chronic Injury of Mice Bone Marrow Multipotent Hematopoietic Progenitor Cells Induced by Ionizing Radiation].
Luan YY et al.·Zhongguo Shi Yan Xue Ye Xue Za Zhi
2023
Single-cell transcriptome analysis profiles the enlarged subsets of myeloid-biased HSPCs with preleukemic characters in disuse osteoporosis mice.
Zhang C et al.·Cell Biosci
2025
Deep learning-based predictive classification of functional subpopulations of hematopoietic stem cells and multipotent progenitors
Wang S et al.·Res Sq
2023Functional
Top 8 full-text resultsSearch PubTator3 ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients