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GeneE
3 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
MPPED1
metallophosphoesterase domain containing 1
Chromosome 22 Β· 22q13.2
NCBI Gene: 758Ensembl: ENSG00000186732.15HGNC: HGNC:1306UniProt: O15442
17PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cyclic-nucleotide phosphodiesterase activityhydrolase activitymolecular_functionbiological_processAbnormality of the skeletal systemVertigoHypercholesterolemiaPhlebitis
✦AI Summary

MPPED1 is a metallophosphoesterase domain-containing protein located on chromosome 22 that may possess metallophosphoesterase activity in vitro and cyclic-nucleotide phosphodiesterase activity based on structural annotations. MPPED1 belongs to an ancient, highly conserved gene family with orthologs spanning from Caenorhabditis elegans to mammals 1. The protein is differentially expressed in pathological conditions; bioinformatic analysis identified MPPED1 as a cross-talk gene with shared differential expression patterns between chr22 periodontitis and oral squamous cell carcinoma, suggesting potential involvement in inflammatory and epithelial-mesenchymal transition pathways 2. In neuroprotection studies, MPPED1 was identified as a downstream target gene of the transcription factor Satb2, with expression altered following treatment with Coptidis rhizoma alkaloids in cerebral ischemia-reperfusion injury models 3. These findings indicate MPPED1 may participate in inflammatory responses and neuroprotective mechanisms, though its precise molecular function and clinical significance remain incompletely characterized. Further investigation is needed to establish specific enzymatic activity and validate its role in disease pathogenesis.

Sources cited
1
MPPED1 is a cross-talk gene differentially expressed in both chronic periodontitis and oral squamous cell carcinoma with potential involvement in epithelial-to-mesenchymal transition pathways
PMID: 30409304
2
MPPED1 is a downstream target gene of transcription factor Satb2, with expression altered in cerebral ischemia-reperfusion injury models treated with Coptidis rhizoma alkaloids
PMID: 34114461
3
MPPED1 (239AB gene) belongs to an ancient, conserved gene family with orthologs from C. elegans to mammals, located on chromosome 22 with expression in adult tissues
PMID: 9266672
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
Abnormality of the skeletal systemOpen Targets
0.38Weak
VertigoOpen Targets
0.31Weak
HypercholesterolemiaOpen Targets
0.31Weak
PhlebitisOpen Targets
0.31Weak
ThrombophlebitisOpen Targets
0.29Weak
mathematical abilityOpen Targets
0.09Suggestive
diabetic ketoacidosisOpen Targets
0.07Suggestive
cervical carcinomaOpen Targets
0.06Suggestive
smoking initiationOpen Targets
0.06Suggestive
response to BCG intravesical immunotherapyOpen Targets
0.06Suggestive
central nervous system cancerOpen Targets
0.04Suggestive
glioblastoma multiformeOpen Targets
0.03Suggestive
tricuspid valve diseaseOpen Targets
0.03Suggestive
ulcerative colitisOpen Targets
0.01Suggestive
non-small cell lung carcinomaOpen Targets
0.01Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
Crohn's diseaseOpen Targets
0.01Suggestive
colorectal adenocarcinomaOpen Targets
0.01Suggestive
head and neck squamous cell carcinomaOpen Targets
0.01Suggestive
Cognitive impairmentOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
SMIM46Shared pathway100%C8orf90Shared pathway100%SMIM44Shared pathway100%C21orf140Shared pathway100%CIMIP7Shared pathway100%ZNF862Shared pathway100%
Tissue Expression6 tissues
Liver
100%
Brain
43%
Ovary
8%
Bone Marrow
0%
Heart
0%
Lung
0%
Gene Interaction Network
Click a node to explore
MPPED1SMIM46C8orf90SMIM44C21orf140CIMIP7ZNF862
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O15442
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.70LoF Tolerant
pLIβ“˜
0.05Tolerant
Observed/Expected LoF0.46 [0.31–0.70]
RankingsWhere MPPED1 stands among ~20K protein-coding genes
  • #15,059of 20,598
    Most Researched17
  • #5,350of 17,882
    Most Constrained (LOEUF)0.70
Genes detectedMPPED1
Sources retrieved3 papers
Response timeβ€”
πŸ“„ Sources
3
1
Shared genetic and epigenetic mechanisms between chronic periodontitis and oral squamous cell carcinoma.
PMID: 30409304
Oral Oncol Β· 2018
1.00
2
Systematic Study of Crucial Transcription Factors of
PMID: 34114461
ACS Chem Neurosci Β· 2021
0.67
3
The 239AB gene on chromosome 22: a novel member of an ancient gene family.
PMID: 9266672
Gene Β· 1997
0.33