Protein-coding gene in the species Homo sapiens
KMT2E |
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Available structures |
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PDB | Ortholog search: PDBe RCSB |
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List of PDB id codes |
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2LV9, 4L58 |
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Identifiers |
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Aliases | KMT2E, HDCMC04P, MLL5, NKp44L, lysine methyltransferase 2E, ODLURO, lysine methyltransferase 2E (inactive), SETD5B |
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External IDs | OMIM: 608444; MGI: 1924825; HomoloGene: 18822; GeneCards: KMT2E; OMA:KMT2E - orthologs |
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Gene location (Human) |
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![Chromosome 7 (human)](//upload.wikimedia.org/wikipedia/commons/thumb/9/99/Ideogram_human_chromosome_7.svg/300px-Ideogram_human_chromosome_7.svg.png) | Chr. | Chromosome 7 (human)[1] |
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| Band | 7q22.3 | Start | 104,940,943 bp[1] |
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End | 105,115,019 bp[1] |
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Gene location (Mouse) |
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![Chromosome 5 (mouse)](//upload.wikimedia.org/wikipedia/commons/thumb/c/c0/Ideogram_house_mouse_chromosome_5.svg/260px-Ideogram_house_mouse_chromosome_5.svg.png) | Chr. | Chromosome 5 (mouse)[2] |
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| Band | 5|5 A3 | Start | 23,639,439 bp[2] |
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End | 23,709,233 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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Top expressed in | - tendon of biceps brachii
- mucosa of paranasal sinus
- Achilles tendon
- sperm
- internal globus pallidus
- pylorus
- buccal mucosa cell
- visceral pleura
- corpus callosum
- epithelium of colon
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| Top expressed in | - Rostral migratory stream
- genital tubercle
- cumulus cell
- parotid gland
- conjunctival fornix
- tail of embryo
- human fetus
- ascending aorta
- pineal gland
- blood
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| More reference expression data |
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BioGPS | |
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Gene ontology |
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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 |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | |
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NM_018682 NM_032187 NM_182931 |
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RefSeq (protein) | | |
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Location (UCSC) | Chr 7: 104.94 – 105.12 Mb | Chr 5: 23.64 – 23.71 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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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
- ^ a b c GRCh38: Ensembl release 89: ENSG00000005483 – Ensembl, May 2017
- ^ a b c 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. 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.