GeneID: 352


Common Name: EHMT2 Type: Gene
Chromosome: 6 (NC_000006.12) Locus: NM_001363689.1 (EHMT2)
HUGO Symbol: EHMT2 Full Name: euchromatic histone lysine methyltransferase 2
Exons: 27 Introns: 26

The protein encoded by this gene is a histone methyltransferase that specifically mono- and di-methylates the lysine-9 position of histone H3 (H3K9me1 and H3K9me2, respectively). It is involved in stage-specific expression switching of beta-like globin genes. It forms a heterodimeric complex with EHMT1 (EHMT1/2) that catalyzes the methylation of H3K9. This methylation is associated with gene silencing in euchromatin. EHMT1/2 complex inhibition activates fetal globin gene expression and leads to an increase in the activating mark H3K9Ac at the γ-globin gene locus in adult human erythroid cells. Inhibition of EHMT2 and subsequent loss of H3K9me2 associated with gain of LDB1 complex occupancy and loop formation between γ-globin promoters and the locus control region (βLCR) with activation of γ-globin gene expression.

Synonyms: G9A , BAT8 , GAT8 , NG36 , KMT1C , C6orf30


Number of entries/variants: 0


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Publications / Origin

  1. Renneville A, Van Galen P, Canver MC, McConkey M, Krill-Burger JM, Dorfman DM, Holson EB, Bernstein BE, Orkin SH, Bauer DE, Ebert BL, EHMT1 and EHMT2 inhibition induces fetal hemoglobin expression., Blood, 126(16), 1930-9, 2015 PubMed
  2. Krivega I, Byrnes C, de Vasconcellos JF, Lee YT, Kaushal M, Dean A, Miller JL, Inhibition of G9a methyltransferase stimulates fetal hemoglobin production by facilitating LCR/γ-globin looping., Blood, 126(5), 665-72, 2015 PubMed
  3. Iarovaia OV, Kovina AP, Petrova NV, Razin SV, Ioudinkova ES, Vassetzky YS, Ulianov SV, Genetic and Epigenetic Mechanisms of β-Globin Gene Switching., Biochemistry (Mosc), 83(4), 381-392, 2018 PubMed
Created on 2020-01-10 14:16:26, Last reviewed on 2021-02-03 10:43:15 (Show full history)

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