EHMT2 Chromosome 6

Euchromatic histone lysine methyltransferase 2

1 variant 1 Health Risk

Upload your DNA to see your personal genotypes for variants in EHMT2.

What This Gene Does

This gene encodes a methyltransferase that methylates lysine residues of histone H3. Methylation of H3 at lysine 9 by this protein results in recruitment of additional epigenetic regulators and repression of transcription. This gene was initially thought to be two different genes, NG36 and G9a, adjacent to each other in the HLA locus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

Gene Info

Gene Group

"Ankyrin repeat domain containing|Histone lysine methyltransferases|SET domain containing"

Locus Type

gene with protein product

Location

6p21.33

Ensembl

ENSG00000204371

Associated Conditions (1)

Kleefstra-like syndrome

Key Variants

RS2481623573

Pathogenic

Kleefstra-like syndrome, Kleefstra-like syndrome

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS2481623573	Health Risk	Pathogenic	Kleefstra-like syndrome, Kleefstra-like syndrome