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), SETD5B
External IDs	OMIM: 608444 MGI: 1924825 HomoloGene: 18822 GeneCards: KMT2E
Gene location (Human) Chr. Chromosome 7 (human) [1] Band 7q22.3 Start 104,940,943 bp [1] End 105,115,019 bp [1]
Gene location (Mouse) Chr. Chromosome 5 (mouse) [2] Band 5|5 A3 Start 23,639,439 bp [2] End 23,709,233 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon sperm internal globus pallidus pylorus visceral pleura corpus callosum urethra bone marrow cells parietal pleura pancreatic epithelial cell Top expressed in cumulus cell parotid gland conjunctival fornix ascending aorta pineal gland blood aortic valve cingulate gyrus dorsomedial hypothalamic nucleus cerebellar vermis More reference expression data BioGPS n/a
Gene ontology Molecular function metal ion binding protein binding histone-lysine N-methyltransferase activity enzyme binding methylated histone binding Cellular component cytoplasm nuclear speck membrane plasma membrane chromatin nucleus nucleoplasm chromosome microtubule organizing center cytoskeleton protein-containing complex Biological process neutrophil activation regulation of transcription, DNA-templated transcription, DNA-templated DNA methylation 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: 104.94 – 105.12 Mb Chr 5: 23.64 – 23.71 Mb PubMed search [3] [4]
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]

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. 104 (6): 1210–1222. doi: 10.1016/j.ajhg.2019.03.021 . PMC   6556837 . 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.