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
Orthologs
SpeciesHumanMouse
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 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

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. 1 2 3 GRCh38: Ensembl release 89: ENSG00000005483 - Ensembl, May 2017
  2. 1 2 3 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


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

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