KMT2E

KMT2E
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2LV9, 4L58
Identifiers
Aliases	KMT2E, HDCMC04P, MLL5, NKp44L, lysine methyltransferase 2E, ODLURO, lysine methyltransferase 2E (inactive)
External IDs	OMIM: 608444 MGI: 1924825 HomoloGene: 18822 GeneCards: KMT2E
Gene location (Human)
Chr.	Chromosome 7 (human)[1]
End	105,115,019 bp[1]
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)[2]
End	23,504,235 bp[2]
Gene ontology
Molecular function	• metal ion binding; • GO:0001948 protein binding; • histone-lysine N-methyltransferase activity; • enzyme binding; • methylated histone binding;
Cellular component	• cytoplasm; • nuclear speck; • membrane; • cell membrane; • chromatin; • cell nucleus; • transcriptionally active chromatin; • nucleoplasm; • chromosome; • microtubule organizing center; • cytoskeleton; • macromolecular complex;
Biological process	• neutrophil activation; • regulation of transcription, DNA-templated; • transcription, DNA-templated; • DNA methylation; • cell cycle arrest; • erythrocyte differentiation; • cell cycle; • neutrophil mediated immunity; • histone lysine methylation; • regulation of megakaryocyte differentiation; • positive regulation of transcription, DNA-templated; • positive regulation of G1/S transition of mitotic cell cycle; • positive regulation of histone H3-K4 trimethylation; • chromatin organization;
	Sources:Amigo / QuickGO
Orthologs
	55904
	69188
	ENSG00000005483
	ENSMUSG00000029004
	Q8IZD2
	Q3UG20
	NM_018682; NM_032187; NM_182931
	NM_026984
	NP_061152; NP_891847
	NP_081260
	Wikidata
View/Edit Human	View/Edit Mouse

Lysine methyltransferase 2E is a protein that in humans is encoded by the KMT2E gene. [5]

Function

This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a protein with an N-terminal PHD zinc finger and a central SET domain. Overexpression of the protein inhibits cell cycle progression. Alternate transcriptional splice variants have been characterized.

Clinical importance

Mutations in this gene have been associated with intellectual disability, autism, macrocephaly, hypotonia, functional gastrointestinal abnormalities and epilepsy.[6]

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References

GRCh38: Ensembl release 89: ENSG00000005483 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000029004 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Entrez Gene: Lysine methyltransferase 2E". Retrieved 2016-06-02.
O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, et al. (May 2019). "Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy". American Journal of Human Genetics. doi:10.1016/j.ajhg.2019.03.021. PMID 31079897.

KMT2E

Function

Clinical importance

References

Further reading