HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
MEPCE
methylphosphate capping enzyme
Chromosome 7 · 7q22.1
NCBI Gene: 56257Ensembl: ENSG00000146834.16HGNC: HGNC:20247UniProt: Q7L2J0
109PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA bindingprotein bindingpositive regulation of snRNA transcription by RNA polymerase IInucleusNeurodevelopmental delayattention deficit hyperactivity disorderattention deficit-hyperactivity disorder 8hereditary attention deficit-hyperactivity disorder
✦AI Summary

MEPCE (methylphosphate capping enzyme) is a multifunctional protein that serves dual enzymatic and structural roles in RNA metabolism and transcriptional regulation. As an S-adenosyl-L-methionine-dependent methyltransferase, MEPCE adds methylphosphate caps to the 5'-ends of 7SK snRNA and U6 snRNAs, stabilizing these critical regulatory RNAs 1. Beyond its enzymatic function, MEPCE acts as a core component of the 7SK ribonucleoprotein (RNP) complex, where it collaborates with LARP7, HEXIM1/2, and 7SK snRNA to sequester positive transcription elongation factor b (P-TEFb) in an inactive state 2. This sequestration prevents RNA polymerase II phosphorylation and subsequent transcriptional elongation under homeostatic conditions 3. Notably, LARP7 interaction within the 7SK RNP complex occludes MEPCE's catalytic center, providing non-enzymatic regulation 2. MEPCE also participates in homologous recombination DNA repair by coordinating R-loop resolution at DNA double-strand breaks and facilitating RAD51 loading 4. Additionally, MEPCE contributes to human telomerase RNA biogenesis, working with LARP7 to process telomerase RNA precursors 5. Dysregulation of MEPCE has been implicated in cancer progression and neurodegenerative diseases, highlighting its clinical significance 36.

Sources cited
1
MEPCE adds methylphosphate caps to 7SK and U6 snRNAs for stabilization
PMID: 38100593
2
MEPCE is a core component of 7SK RNP complex that sequesters P-TEFb, with LARP7 inhibiting its methyltransferase activity
PMID: 28431135
3
7SK RNP complex maintains P-TEFb in repressed state under homeostatic conditions and is implicated in cancer progression
PMID: 40368082
4
MEPCE promotes homologous recombination through R-loop resolution at DNA breaks
PMID: 40411785
5
MEPCE works with LARP7 in human telomerase RNA biogenesis
PMID: 39009594
6
MEPCE enhances tau protein toxicity and is implicated in Alzheimer's disease neurodegeneration
PMID: 40393985
Disease Associationsⓘ20
Neurodevelopmental delayOpen Targets
0.12Weak
attention deficit hyperactivity disorderOpen Targets
0.09Suggestive
attention deficit-hyperactivity disorder 8Open Targets
0.07Suggestive
hereditary attention deficit-hyperactivity disorderOpen Targets
0.07Suggestive
intellectual disability, autosomal recessive 59Open Targets
0.07Suggestive
schizophrenia 15Open Targets
0.07Suggestive
Phelan-McDermid syndromeOpen Targets
0.05Suggestive
X-linked non-syndromic intellectual disabilityOpen Targets
0.04Suggestive
age-related macular degenerationOpen Targets
0.04Suggestive
Potocki-Lupski syndromeOpen Targets
0.04Suggestive
Abnormality of the skeletal systemOpen Targets
0.03Suggestive
atrophic macular degenerationOpen Targets
0.03Suggestive
wet macular degenerationOpen Targets
0.03Suggestive
basal cell carcinomaOpen Targets
0.03Suggestive
alcohol drinkingOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
BRD4Protein interaction100%SNRPBProtein interaction100%PRPF31Protein interaction100%PRPF4Protein interaction100%LSM6Protein interaction100%SNRPGProtein interaction100%
Tissue Expression6 tissues
Ovary
100%
Liver
88%
Bone Marrow
76%
Lung
67%
Brain
60%
Heart
49%
Gene Interaction Network
Click a node to explore
MEPCEBRD4SNRPBPRPF31PRPF4LSM6SNRPG
PROTEIN STRUCTURE
Preparing viewer…
PDB6DCB · 2.00 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.33Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.19 [0.11–0.33]
RankingsWhere MEPCE stands among ~20K protein-coding genes
  • #4,364of 20,598
    Most Researched109 · top quartile
  • #1,408of 17,882
    Most Constrained (LOEUF)0.33 · top 10%
Genes detectedMEPCE
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
LARP3, LARP7, and MePCE are involved in the early stage of human telomerase RNA biogenesis.
PMID: 39009594
Nat Commun · 2024
1.00
2
An integrative systems-biology approach defines mechanisms of Alzheimer's disease neurodegeneration.
PMID: 40393985
Nat Commun · 2025
0.90
3
The phosphatase PP1 sustains global transcription by promoting RNA polymerase II pause release.
PMID: 39603240
Mol Cell · 2024
0.80
4
MePCE promotes homologous recombination through coordinating R-loop resolution at DNA double-stranded breaks.
PMID: 40411785
Cell Rep · 2025
0.70
5
PMID: 38100593
Sci Adv · 2023
0.60