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KMT2E

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(Redirected from MLL5)
KMT2E
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesKMT2E, HDCMC04P, MLL5, NKp44L, lysine methyltransferase 2E, ODLURO, lysine methyltransferase 2E (inactive), SETD5B
External IDsOMIM: 608444; MGI: 1924825; HomoloGene: 18822; GeneCards: KMT2E; OMA:KMT2E - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 MbChr 5: 23.64 – 23.71 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

Function

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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

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

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000005483Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000029004Ensembl, 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

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