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FLASH GENE

Symbol

EHMT2

contributors: mct/pgu - updated : 16-06-2019

HGNC name	euchromatic histone-lysine N-methyltransferase 2
HGNC id	14129

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

text	only two transcripts are fully described

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_006709 28 splicing 3982 132.2 1210 - 2001 11707778 variant NG36/G9a isoform a NM_025256 27 splicing 3880 128.9 1176 - 2001 11707778 variant NG36/G9a-SPI lacking 102 bases in exon 10 of the coding region isoform b lacking 34 internal aa

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Digestive liver       highly Lymphoid/Immune lymph node       highly   spleen       highly   thymus       highly Nervous brain         Respiratory lung         Visual eye uvea choroid

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier/lining retinal pigment epithelium (RPE)

cells

System Cell Pubmed Species Stage Rna symbol Muscular myoblast Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	seven ANK repeats
	one post-SET domain
	one pre-SET domain
	one SET domain

HOMOLOGY

interspecies	homolog to murine Ehmt2 (95.6pc)
	homolog to rattus Ehmt2 (95.9pc)

Homologene

FAMILY

histone-lysine methyltransferase family, Suvar3-9 subfamily

CATEGORY

adaptor , enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,chromatin/chromosome,euchromosome
text	expressed in the nucleus in undifferentiated myoblasts and remained nuclear, albeit at much lower expression, in MHC+ differentiated cells

basic FUNCTION	may be involved in intracellular protein-protein interaction
	lysine-preferring histone methyltransferase activity
	silencing NRSF target genes in nonneuronal cells by generating a highly localized domain of dimethylated histone H3-K9 around NRSEs
	functioning as a transcriptional corepressor in association with a CDP/cut complexor in association with GFI1 and HDAC1
	promotes binding of DNA methyltransferases and the G9a/GLP complex to specific loci and facilitates developmentally programmed DNA methylation and stable gene silencing during lineage commitment and differentiation
	is a SET-domain mammalian histone methyltransferase responsible for mono- and dimethylation of lysine 9 in histone H3 (H3K9) at euchromatic regions
	dual role in maintaining proper expression (both repression and activation) of the beta-globin genes in differentiating adult erythroid cells
	gatekeeper for a specific set of genes localized within the late replicating nuclear periphery
	responsible for the majority of dimethylation of histone H3 at lysine 9 (H3K9me2) and is required for the efficient repression of developmentally regulated genes during embryonic stem cell differentiation
	unpredicted and complex roles in regulating gene expression during lineage commitment in adult CD4(+) T cells
	histone methyltransferase that contributes to the epigenetic silencing of tumor suppressor genes
	promotes lung cancer invasion and metastasis by silencing the cell adhesion molecule EPCAM
	promotes binding of DNA methyltransferases and the EHMT2 complex to specific loci and facilitates developmentally programmed DNA methylation and stable gene silencing during lineage commitment and differentiation)
	H3K9 KMTase, required for the establishment, but not for the maintenance, of silencing of newly integrated proviruses
	histone lysine methyltransferase localized in euchromatin regions and acting as a corepressor for specific transcription factors
	its dysregulation plays an important role in the growth regulation of cancer cells
	unconventional epigenetic mechanism that connects EHMT2 to maintenance of an undifferentiated fate by methylation of MYOD1
	HDAC5, HDAC7, and EHMT2 are involved in the transcriptional repression activity of PARP2
	EHMT1, EHMT2 have an essential role in normal morphogenesis of the atrioventricular septum through regulation of the size of the atrioventricular cushion
	EHMT2 is an epigenetic regulator of VEGFA alternative splicing
	EHMT1, EHMT2 are epigenetic regulators involved in gamma-globin repression
	orchestrates PHF19 and KDM7A to promote histone H3K27 methylation
	EHMT1 and EHMT2 are differentially expressed in cortical areas
	EHMT1 and EHMT2 are DDR components, with implications for genome-integrity maintenance through proper dynamic methylation of MDC1

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	component of the E2F6.com-1 complex in G0 phase composed of E2F6, MGA, MAX, TFDP1, CBX3, BAT8, EUHMTASE1, RING1, RNF2, MBLR, L3MBTL2 and YAF2
	EHMT2 and EHMT1 are critical components of the DNA repair pathway, and promote responses to DNA damage

INTERACTION

DNA

RNA

small molecule

protein	interacting with CUTL1
	interacting with GFI1
	interacting with ESCO2
	EHMT2/EHMT1-associating zinc finger molecule named WIZ that can interact with EHMT2 and EHMT1 independently but is more stable in the EHMT2/EHMT1 heteromeric complexes
	binding partner of ZNF200
	CEBPB is a direct substrate of EHMT2-mediated post-translational modification that alters the functional properties of CEBPB during gene regulation
	interacting with UHRF1 (may serve as a focal point of transcriptional regulation mediated by EHMT2 and other chromatin modification enzymes)
	RUVBL2 is methylated at lysine 67 in hypoxic conditions by the methyltransferase EHMT2
	interaction with HELLS (promotes binding of DNA methyltransferases and the EHMT2 complex to specific loci and facilitates developmentally programmed DNA methylation and stable gene silencing during lineage commitment and differentiation)
	interaction with HELL (HELL promotes binding of DNA methyltransferases and the EHMT2 complex to specific loci and facilitates developmentally programmed DNA methylation and stable gene silencing during lineage commitment and differentiation)
	unique inhibitor of skeletal muscle differentiation that plays a dominant role in MYOD1 activation
	functioned as a positive regulator for RUNX2 target genes
	EHMT2 mediates NFIL3-dependent suppression of hepatic FGF21 by enhancing histone methylation (H3K9me2) of the FGF21 promoter
	PARP2 interacts and recruits histone deacetylases HDAC5 and HDAC7, and histone methyltransferase EHMT2 to the promoters of cell cycle-related genes, generating repressive chromatin signatures
	ZNF644 interact with the transcription activation domain of EHMT2
	WIZ regulates global H3K9me2 levels by facilitating the interaction of EHMT2 with chromatin
	EHMT1 and EHMT2 are novel regulators of MDC1, which is required for the accumulation of DNA damage response (DDR) factors
	TBC1D3 interacts with EHMT2 a, a euchromatic histone lysine N-methyltransferase, which mediates dimethylation of histone 3 in lysine 9 (H3K9me2), a suppressive mark for gene expression

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   significantly elevated in bladder carcinomas compared with nonneoplastic bladder tissues tumoral     --over   in aggressive lung cancer cells, and its elevated expression correlates with poor prognosis constitutional     --over   in the peripheral blood cells may support the notion of a restrictive chromatin state in autism spectrum disorders (ASD), similar to schizophrenia

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer     importance of EHMT2 as a promising therapeutic target for various types of cancer blood hemoglobin   novel therapeutic target for sickle cell disease (SCD)

ANIMAL & CELL MODELS