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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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DNMT3L
DNA methyltransferase 3 like
Chromosome 21 · 21q22.3
NCBI Gene: 29947Ensembl: ENSG00000142182.9HGNC: HGNC:2980UniProt: Q9UJW3
54PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingenzyme activator activityenzyme bindingcytosolcardiovascular diseaseventricular fibrillationrheumatoid arthritisGenetic chronic primary adrenal insufficiency
✦AI Summary

DNMT3L is a catalytically inactive regulatory protein that plays essential roles in DNA methylation by activating DNMT3A and DNMT3B methyltransferases. The protein functions by binding to the catalytic domains of DNMT3A and DNMT3B, accelerating their binding to DNA and S-adenosyl-L-methionine, then dissociating after DNA binding occurs 1. DNMT3L recognizes unmethylated histone H3 lysine 4 and induces de novo DNA methylation through recruitment or activation of DNMT3 enzymes. In placental development, DNMT3L is necessary for establishing partially methylated domains (PMDs), a conserved mammalian epigenetic feature, as demonstrated by restoration of placental PMDs when DNMT3L is ectopically expressed in human trophoblast stem cells 2. The protein shows tissue-specific expression patterns and clinical significance in multiple contexts. DNMT3L is specifically expressed in testicular germ cell tumors, particularly embryonal carcinoma cells, where it serves as a novel diagnostic marker and is essential for tumor cell growth 3. Additionally, DNMT3L has been identified as a potential therapeutic target, with engineered CHARM systems using DNMT3L fusions successfully silencing pathogenic proteins like prion protein in mouse brains 4. Recent genetic studies have also implicated DNMT3L variants in Alzheimer's disease and related dementia risk 5.

Sources cited
1
DNMT3L activates DNMT3A and DNMT3B by binding to their catalytic domains and accelerating DNA and cofactor binding
PMID: 15861382
2
DNMT3L is necessary for establishing placental partially methylated domains (PMDs) in human trophoblast development
PMID: 39788122
3
DNMT3L is specifically expressed in testicular germ cell tumors and is essential for embryonal carcinoma cell growth
PMID: 20460473
4
DNMT3L can be used in engineered epigenetic editors (CHARM) to silence pathogenic proteins in the brain
PMID: 38935715
5
DNMT3L variants are associated with Alzheimer's disease and related dementia risk
PMID: 39129223
Disease Associationsⓘ20
cardiovascular diseaseOpen Targets
0.28Weak
ventricular fibrillationOpen Targets
0.28Weak
rheumatoid arthritisOpen Targets
0.16Weak
Genetic chronic primary adrenal insufficiencyOpen Targets
0.14Weak
azoospermiaOpen Targets
0.10Weak
Female infertility due to fertilization defectOpen Targets
0.09Suggestive
partial chromosome Y deletionOpen Targets
0.09Suggestive
Rare genetic female infertilityOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
spermatogenic failure 57Open Targets
0.08Suggestive
spermatogenic failure 50Open Targets
0.08Suggestive
spermatogenic failure 25Open Targets
0.08Suggestive
spermatogenic failure 71Open Targets
0.08Suggestive
spermatogenic failure 61Open Targets
0.08Suggestive
spermatogenic failure 62Open Targets
0.08Suggestive
spermatogenic failure 88Open Targets
0.08Suggestive
spermatogenic failure 59Open Targets
0.08Suggestive
spermatogenic failure 60Open Targets
0.08Suggestive
spermatogenic failure 73Open Targets
0.08Suggestive
spermatogenic failure 74Open Targets
0.08Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ATRXProtein interaction100%DNMT1Protein interaction100%TRDMT1Protein interaction100%DNMT3BProtein interaction100%H3-3BProtein interaction100%H3-4Protein interaction100%
Tissue Expression6 tissues
Liver
100%
Brain
5%
Lung
0%
Ovary
0%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
DNMT3LATRXDNMT1TRDMT1DNMT3BH3-3BH3-4
PROTEIN STRUCTURE
Preparing viewer…
PDB6W8B · 2.40 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.18LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.88 [0.67–1.18]
RankingsWhere DNMT3L stands among ~20K protein-coding genes
  • #8,306of 20,598
    Most Researched54
  • #12,359of 17,882
    Most Constrained (LOEUF)1.18
Genes detectedDNMT3L
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Brainwide silencing of prion protein by AAV-mediated delivery of an engineered compact epigenetic editor.
PMID: 38935715
Science · 2024
1.00
2
Inheritable Silencing of Endogenous Genes by Hit-and-Run Targeted Epigenetic Editing.
PMID: 27662090
Cell · 2016
0.90
3
Ectopic expression of DNMT3L in human trophoblast stem cells restores features of the placental methylome.
PMID: 39788122
Cell Stem Cell · 2025
0.80
4
Whole exome sequencing analyses identified novel genes for Alzheimer's disease and related dementia.
PMID: 39129223
Alzheimers Dement · 2024
0.70
5
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
PMID: 31175295
Nat Commun · 2019
0.60