KMT2E (MLL5) Gene
Lysine Methyltransferase 2E: Epigenetic Regulator in Development and Disease
Gene Information Card
| Symbol | KMT2E |
|---|---|
| Full Name | Lysine Methyltransferase 2E |
| Gene Type | Protein coding |
| Chromosomal Location | 7q22.3 |
| NCBI Gene ID | 55904 ncbi.nlm.nih.gov/gene/55904 |
| Ensembl ID | ENSG00000100033 |
| UniProt ID | Q8IZT6 |
| OMIM ID | 608444 |
| HGNC ID | 18541 |
| Aliases | MLL5, HDCMC04P, DKFZp686I10110 |
Description
KMT2E (lysine methyltransferase 2E), also known as MLL5, encodes a histone methyltransferase that specifically monomethylates histone H3 at lysine 4 (H3K4me1). It plays a critical role in transcriptional regulation, cell cycle control, hematopoiesis, and spermatogenesis. KMT2E is involved in maintaining genomic stability and is frequently altered in various cancers and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual developmental disorder, autosomal dominant 51 (MRD51) | Loss-of-function mutations impair H3K4 methylation, disrupting neuronal gene expression | ClinVar, OMIM |
| Acute myeloid leukemia (AML) | KMT2E rearrangements or deletions contribute to leukemogenesis via epigenetic dysregulation | COSMIC, NCBI |
| Myelodysplastic syndrome (MDS) | Deletion or mutation of KMT2E leads to impaired hematopoiesis and increased risk of transformation | COSMIC, ClinVar |
| Breast cancer | KMT2E overexpression or amplification associated with poor prognosis | COSMIC |
| Prostate cancer | KMT2E alterations linked to disease progression | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Bone marrow | 8.2 | Medium |
| Brain (cortex) | 6.1 | Medium |
| Lung | 5.3 | Medium |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 10.4 | High expression |
| HeLa (cervical) | 7.6 | Medium expression |
| HEK293 (embryonic kidney) | 6.9 | Medium expression |
| MCF7 (breast cancer) | 5.2 | Medium expression |
| HepG2 (liver) | 4.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function, associated with MRD51 |
| c.1567_1568del (p.Leu523fs) | Frameshift | <0.1% | Loss of function, associated with MRD51 |
| c.789G>A (p.Trp263*) | Nonsense | <0.1% | Loss of function, associated with MRD51 |
| KMT2E rearrangements (e.g., t(7;11)) | Translocation | Rare | Oncogenic fusion in AML |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and splice-site mutations that truncate the protein or disrupt the SET domain, leading to reduced H3K4me1 and transcriptional dysregulation.
Gain of Function (GOF)
Not well characterized; amplifications or overexpression may contribute to oncogenesis in some cancers.
Dominant Negative (DN)
Not reported for KMT2E.
View complete mutation data：
Gene Ontology (GO)
| • Histone H3-K4 methyltransferase activity | • Chromatin binding |
| • Regulation of transcription | • DNA-templated |
| • Cell cycle | • Spermatogenesis |
| • Negative regulation of cell proliferation |
Pathways
• Epigenetic regulation of gene expression
• Histone methylation
• Transcriptional misregulation in cancer
• Cell cycle - G1/S transition
Protein Summary
KMT2E (MLL5) is a 2001-amino acid protein containing a SET domain responsible for histone H3 lysine 4 monomethylation. It localizes to the nucleus and interacts with chromatin remodeling complexes. The protein is essential for normal hematopoiesis, neuronal development, and genomic stability. Loss of function leads to intellectual disability and predisposes to myeloid malignancies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KMT2E Knockout HEK293 Cell Line | EDJ-KQ1914 | Human | 55904 | Details Get a Quote |
| KMT2E Knockout A-549 Cell Line | EDJ-KQ20531 | Human | 55904 | Details Get a Quote |
| KMT2E Knockout HCT 116 Cell Line | EDJ-KQ21829 | Human | 55904 | Details Get a Quote |
| KMT2E Knockout HeLa Cell Line | EDJ-KQ21830 | Human | 55904 | Details Get a Quote |
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