KMT2E

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

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] Band 7q22.3 Start 105,014,190 bp[1] End 105,115,019 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5|5 A3 Start 23,434,441 bp[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
Species	Human	Mouse
Entrez	55904	69188
Ensembl	ENSG00000005483	ENSMUSG00000029004
UniProt	Q8IZD2	Q3UG20
RefSeq (mRNA)	NM_018682 NM_032187 NM_182931	NM_026984
RefSeq (protein)	NP_061152 NP_891847	NP_081260
Location (UCSC)	Chr 7: 105.01 – 105.12 Mb	Chr 5: 23.43 – 23.5 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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]

References

1. GRCh38: Ensembl release 89: ENSG00000005483 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000029004 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: Lysine methyltransferase 2E". Retrieved 2016-06-02.
6. 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.

Further reading

• Emerling BM, Bonifas J, Kratz CP, Donovan S, Taylor BR, Green ED, Le Beau MM, Shannon KM (2002). "MLL5, a homolog of Drosophila trithorax located within a segment of chromosome band 7q22 implicated in myeloid leukemia". Oncogene. 21 (31): 4849–54. doi:10.1038/sj.onc.1205615. PMID 12101424.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.