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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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MLLT10
MLLT10 histone lysine methyltransferase DOT1L cofactor
Chromosome 10 · 10p12.31
NCBI Gene: 8028Ensembl: ENSG00000078403.18HGNC: HGNC:16063UniProt: P55197
72PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedOncogeneTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein-containing complexprotein bindingnucleosome bindinghistone bindingbreast carcinomaobesityovarian carcinomahypertension
✦AI Summary

MLLT10 is a transcriptional cofactor that plays crucial roles in chr10 regulation and gene expression. The protein functions as a cofactor for the histone lysine methyltransferase DOT1L, regulating histone H3 lysine-79 dimethylation (H3K79me2) and gene activation through binding to unmodified histone H3 1. MLLT10 demonstrates transactivation activity and binds to cruciform DNA structures, indicating its involvement in transcriptional regulation 1. In hematopoietic malignancies, MLLT10 fusion proteins are recurrent oncogenic drivers, with KMT2A::MLLT10 and PICALM::MLLT10 fusions associated with poor prognosis in pediatric acute myeloid leukemia, exhibiting 5-year event-free survival rates of only 18.6% 2. These fusion-positive leukemias demonstrate DNA hypermethylation signatures and activation of proliferation-related pathways 3. Beyond hematologic cancers, MLLT10 promotes tumor progression in colorectal cancer by enhancing migration, invasion, and metastasis through epithelial-mesenchymal transition mechanisms 4. Genome-wide association studies have identified MLLT10 as a risk locus for endometriosis, with potential roles in pain perception and inflammatory pathways 5. The protein's involvement in multiple cancer types and inflammatory conditions underscores its importance in disease pathogenesis.

Sources cited
1
MLLT10 functions as a transcriptional cofactor and DOT1L cofactor regulating H3K79me2 and gene activation
PMID: 32569758
2
MLLT10 fusions in pediatric AML are associated with poor prognosis and 5-year event-free survival of 18.6%
PMID: 38306602
3
MLLT10 fusion-positive leukemias show DNA hypermethylation signatures and activation of proliferation pathways
PMID: 38429501
4
MLLT10 promotes colorectal cancer metastasis through epithelial-mesenchymal transition
PMID: 30102091
5
MLLT10 is identified as a risk locus for endometriosis with roles in pain perception pathways
PMID: 36914876
Disease Associationsⓘ20
breast carcinomaOpen Targets
0.55Moderate
obesityOpen Targets
0.48Moderate
ovarian carcinomaOpen Targets
0.47Moderate
hypertensionOpen Targets
0.46Moderate
endometriosisOpen Targets
0.45Moderate
ovarian cancerOpen Targets
0.42Moderate
diverticular diseaseOpen Targets
0.42Moderate
breast cancerOpen Targets
0.42Moderate
asthmaOpen Targets
0.42Moderate
luminal A breast carcinomaOpen Targets
0.42Moderate
essential hypertensionOpen Targets
0.41Moderate
ventral herniaOpen Targets
0.41Moderate
normal pressure hydrocephalusOpen Targets
0.40Moderate
smoking initiationOpen Targets
0.40Moderate
overnutritionOpen Targets
0.40Weak
insomniaOpen Targets
0.39Weak
osteoarthritisOpen Targets
0.39Weak
Uterine leiomyomaOpen Targets
0.39Weak
dry eye syndromeOpen Targets
0.39Weak
shortness of breathOpen Targets
0.37Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MSL1Shared pathway100%HDGFL1Shared pathway100%HIPK4Shared pathway100%HMGB4Shared pathway100%NAA40Shared pathway100%NSD1Shared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
62%
Heart
56%
Lung
40%
Liver
37%
Brain
22%
Gene Interaction Network
Click a node to explore
MLLT10MSL1HDGFL1HIPK4HMGB4NAA40NSD1
PROTEIN STRUCTURE
Preparing viewer…
PDB5DAG · 1.60 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.29Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.20 [0.14–0.29]
RankingsWhere MLLT10 stands among ~20K protein-coding genes
  • #6,564of 20,598
    Most Researched72
  • #1,071of 17,882
    Most Constrained (LOEUF)0.29 · top 10%
Genes detectedMLLT10
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions.
PMID: 36914876
Nat Genet · 2023
1.00
2
Genomic and global gene expression profiling in pediatric and young adult acute leukemia with PICALM::MLLT10 Fusion.
PMID: 38429501
Leukemia · 2024
0.90
3
The phenotypic and genetic association between endometriosis and immunological diseases.
PMID: 40262193
Hum Reprod · 2025
0.80
4
Optimized cytogenetic risk-group stratification of KMT2A-rearranged pediatric acute myeloid leukemia.
PMID: 38621200
Blood Adv · 2024
0.70
5
MLLT10 in benign and malignant hematopoiesis.
PMID: 32569758
Exp Hematol · 2020
0.60