KMT2E

KMT2E
Identifiers
Aliases	KMT2E, HDCMC04P, MLL5, NKp44L, lysine methyltransferase 2E, ODLURO, lysine methyltransferase 2E (inactive), SETD5B
External IDs	OMIM: 608444; MGI: 1924825; GeneCards: KMT2E
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2LV9, 4L58
Gene location (Human) Chr. Chromosome 7 (human) Band 7q22.3 Start 104,940,943 bp End 105,115,019 bp
Gene location (Mouse) Chr. Chromosome 5 (mouse) Band 5|5 A3 Start 23,639,439 bp End 23,709,233 bp
RNA expression pattern Bgee Human Mouse (ortholog) 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 Top expressed in Rostral migratory stream genital tubercle cumulus cell parotid gland conjunctival fornix tail of embryo human fetus ascending aorta pineal gland blood 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 Databases NCBI: entry; OMA: entry 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
Wikidata
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Histone-lysine N-methyltransferase 2E, also known as myeloid/lymphoid or mixed-lineage leukemia 5 (MLL5), is a protein that in humans is encoded by the KMT2E gene.

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 can cause O'Donnell-Luria–Rodan syndrome, a condition associated with intellectual disability, autism, macrocephaly, hypotonia, functional gastrointestinal abnormalities and epilepsy.

References

Further reading

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