MPPED2

Chr 11

metallophosphoesterase domain containing 2

Also known as: 239FB, C11orf8

NCBI Gene: 744ENSG00000066382UniProt: Q15777

The protein displays metallophosphoesterase activity and may function in nervous system development. Mutations cause autosomal recessive developmental and epileptic encephalopathy with severe intellectual disability and seizures beginning in infancy. The gene is highly constrained against loss-of-function variants, indicating it is essential for normal cellular function.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
5
Pubs (1 yr)
23
P/LP submissions
0%
P/LP missense
0.20
LOEUF· LoF intol.
—
Mechanism
Clinical Summary— MPPED2
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.99). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
23 unique Pathogenic / Likely Pathogenic· 16 VUS of 51 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.20LOEUF
pLI 0.993
Z-score 3.59
OE 0.00 (0.00–0.20)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
2.00Z-score
OE missense 0.57 (0.48–0.68)
98 obs / 171.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.00 (0.00–0.20)
0≤0.351.4
Missense OE0.57 (0.48–0.68)
0≤0.61.4
Synonymous OE0.91
0≤1.21.6
LoF obs/exp: 0 / 15.0Missense obs/exp: 98 / 171.5Syn Z: 0.60

ClinVar Variant Classifications

51 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic23
VUS16
23
Pathogenic
16
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
23
0
23
Likely Pathogenic
0
0
0
0
0
VUS
0
12
4
0
16
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total01227039

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

View in ClinVar →

Protein Context — Lollipop Plot

MPPED2 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 4 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Extracellular vesicles derived from M1 macrophages deliver MPPED2 and regulate PI3K/AKT to suppress trophoblast autophagy and proliferation in recurrent spontaneous abortion†.
Tang C et al.·Biol Reprod
2026
Metallophosphoesterase-Domain-Containing Protein 2 (MPPED2) Expression in High-Risk Human Papilloma Virus-Induced Cervical Carcinoma and Its Correlation With p16INK4A Protein.
Sujatha T et al.·Cureus
2024Open Access
Correction: Sepe et al. The Long Non-Coding RNA RP5-1024C24.1 and Its Associated-Gene MPPED2 Are Down-Regulated in Human Thyroid Neoplasias and Act as Tumour Suppressors. Cancers 2018, 10, 146.
Sepe R et al.·Cancers (Basel)
2023Open Access
MPPED2 is downregulated in glioblastoma, and its restoration inhibits proliferation and increases the sensitivity to temozolomide of glioblastoma cells.
Pellecchia S et al.·Cell Cycle
2021
Top 5 resultsSearch Europe PMC ↗

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