KMT2E

Protein-coding gene in humans From Wikipedia, the free encyclopedia

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. [5]

PDBOrtholog search: PDBe RCSB
AliasesKMT2E, HDCMC04P, MLL5, NKp44L, lysine methyltransferase 2E, ODLURO, lysine methyltransferase 2E (inactive), SETD5B
Quick facts Available structures, PDB ...
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
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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.[6]

References

Further reading

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