AlphaFold predicted structure
KMT2E · Q8IZD2
Mean pLDDT
44.0/ 100
Very low
1,858 residues
Confidence breakdown
- Very high(≥ 90)8%
- Confident(70–90)7%
- Low(50–70)5%
- Very low(< 50)80%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
KMT2E
Chr 7q22.3lysine methyltransferase 2E (inactive)
- Aliases:
- HDCMC04P, SETD5B
- MANE:
- ENST00000311117.8
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disease associations (Open Targets)
O'Donnell-Luria-Rodan syndrome
0.79Intellectual disability
0.58hereditary disease
0.55neurodegenerative disease
0.54Global developmental delay
0.53Seizure
0.49complex neurodevelopmental disorder
0.48autism
0.46neurodevelopmental disorder
0.45Neurodevelopmental delay
0.41
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Histone reader KMT2E
Associates with chromatin regions downstream of transcriptional start sites of active genes and thus regulates gene transcription (PubMed:23629655, PubMed:23798402, PubMed:24130829). Chromatin interaction is mediated via the binding to tri-methylated histone H3 at 'Lys-4' (H3K4me3) (PubMed:23798402, PubMed:24130829). Key regulator of hematopoiesis involved in terminal myeloid differentiation and in the regulation of hematopoietic stem cell (HSCs) self-renewal by a mechanism that involves DNA methylation (By similarity). Also acts as an important cell cycle regulator, participating in cell cycle regulatory network machinery at multiple cell cycle stages including G1/S transition, S phase progression and mitotic entry (PubMed:14718661, PubMed:18573682, PubMed:19264965, PubMed:23629655). Recruited to E2F1 responsive promoters by HCFC1 where it stimulates tri-methylation of histone H3 at 'Lys-4' and transcriptional activation and thereby facilitates G1 to S phase transition (PubMed:23629655). During myoblast differentiation, required to suppress inappropriate expression of S-phase-promoting genes and maintain expression of determination genes in quiescent cells (By similarity)
Diseases associated with KMT2E
Curated MONDO disease pages that list KMT2E among their top associated genes.