EHMT2 - euchromatic histone lysine methyltransferase 2 Gene

Homo sapiens

Also known as G9A; BAT8; GAT8; NG36; KMT1C; C6orf30

Gene ID: 10919 | Gene type: protein coding

About EHMT2

Cytogenetic location: 6p21.33 Genomic coordinates (GRCh38): 6:31,879,759-31,897,698 (from NCBI)

This gene has 12 transcripts (splice variants), 1 gene allele, 210 orthologues and 19 paralogues. Ubiquitous expression in ovary (RPKM 14.8), testis (RPKM 14.4) and 25 other tissues.

Summary

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]

EHMT2 Products(13)

mRNA	Protein	Name
XM_006714975.2	XP_006715038.2	histone-lysine N-methyltransferase EHMT2 isoform X2
NM_001395164.1	NP_001382093.1	histone-lysine N-methyltransferase EHMT2 isoform j
NM_006709.5	NP_006700.3	histone-lysine N-methyltransferase EHMT2 isoform a
NM_001395163.1	NP_001382092.1	histone-lysine N-methyltransferase EHMT2 isoform i
NM_001395160.1	NP_001382089.1	histone-lysine N-methyltransferase EHMT2 isoform f
NM_025256.7	NP_079532.5	histone-lysine N-methyltransferase EHMT2 isoform b
NM_001363689.2	NP_001350618.1	histone-lysine N-methyltransferase EHMT2 isoform e
NM_001395162.1	NP_001382091.1	histone-lysine N-methyltransferase EHMT2 isoform h
NM_001289413.2	NP_001276342.1	histone-lysine N-methyltransferase EHMT2 isoform c
NM_001395165.1	NP_001382094.1	histone-lysine N-methyltransferase EHMT2 isoform k
XM_006714974.2	XP_006715037.2	histone-lysine N-methyltransferase EHMT2 isoform X1
NM_001395161.1	NP_001382090.1	histone-lysine N-methyltransferase EHMT2 isoform g
NM_001318833.2	NP_001305762.1	histone-lysine N-methyltransferase EHMT2 isoform d

EHMT2 Protein Structure

Ank_2

Pre-SET

SET

0
200
400
600
800
1000
1210 a.a.

Protein Preferred Names

Protein Names

histone-lysine N-methyltransferase EHMT2

G9A histone methyltransferase	H3-K9-HMTase 3
HLA-B associated transcript 8	ankyrin repeat-containing protein
euchromatic histone-lysine N-methyltransferase 2	histone H3-K9 methyltransferase 3
histone-lysine N-methyltransferase, H3 lysine-9 specific 3	lysine N-methyltransferase 1C

Related Diseases

Diseases

Alias

Hyperoxaluria, Primary, Type I

Primary Hyperoxaluria Type 1	HP1
Glycolic Aciduria	Alanine-Glyoxylate Aminotransferase Deficiency
Hepatic Agt Deficiency	Oxalosis I
Primary Hyperoxaluria, Type I	Serine:Pyruvate Aminotransferase Deficiency
Hyperoxaluria, Primary, Type 1	Peroxisomal Alanine-Glyoxylate Aminotransferase Deficiency
Peroxisomal Alanine Glyoxylate Aminotransferase Deficiency	Serine Pyruvate Aminotransferase Deficiency
Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency	Oxalosis 1
Hyperoxaluria Primary 1	Hyperoxaluria Primary Type I
Ph1	Primary Hyperoxaluria Type I
Oxalosis Type 1	2-Oxoglutarate Glyoxylate Carboligase Deficiency

Fetal Alcohol Spectrum Disorder

Fetal Alcohol Spectrum Disorders

Fetal Alcohol Syndrome

Prader-Willi Syndrome

Prader-Labhart-Willi Syndrome	PWS
Willi-Prader Syndrome	Prader-Willi Syndrome Due To Translocation
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Prader Willi Syndrome
Prader-Willi Syndrome Due To Imprinting Mutation	Upd(15)Mat

Primary Hyperoxaluria

Hyperoxaluria, Primary	Oxalosis
Hyperoxaluria	Primary Oxalosis
Congenital Oxaluria	D-Glycerate Dehydrogenase Deficiency
Glyceric Aciduria	Glycolic Aciduria
Hepatic Agt Deficiency	Oxaluria, Primary
Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency	Primary Oxaluria
Hyperoxaluria Primary	Primary Hyperoxaluria Type 2
Primary Hyperoxaluria, Type I

Systemic Lupus Erythematosus

Lupus Nephritis	SLE
Disseminated Lupus Erythematosus	Systemic Lupus Erythematosus, Susceptibility To
Lupus Erythematosus, Systemic	Lupus Nephritis, Susceptibility To
Libman-Sacks Disease	Systemic Lupus Erythematosus Susceptibility To
Sle - Lupus Erythematosus, Systemic	Le Syndrome
Lupus	Lupus Erythematosus Systemic
Lupus Erythematosus, Systemic, Susceptibility To	Lupus Vulgaris
Lupus Erythematosus, Discoid	Lupus Erythematosus
Systemic Lupus Erythematosus Nos	Sle - [Systemic Lupus Erythematosus]

Kleefstra Syndrome

9q34.3 Microdeletion Syndrome	9q Subtelomeric Deletion Syndrome
9q- Syndrome	Chromosome 9q Deletion Syndrome
9qstds	Chromosome 9q34.3 Deletion Syndrome
9q34.3 Deletion Syndrome	Chromosome 9, Trisomy 9q

Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome

Icf Syndrome	Immunodeficiency Syndrome, Variable
Ciid	Centromeric Instability, Immunodeficiency Syndrome
Immune Deficiency, Variable, With Centromeric Instability Of Chromosomes 1, 9, And 16	Icf

Basan Syndrome

Adermatoglyphia With Congenital Facial Milia And Acral Blisters, Digital Contractures, And Nail Abnormalities	Ectodermal Dysplasia, Absent Dermatoglyphic Pattern, Changes In Nails, And Simian Crease
Baird Syndrome	Absence Of Fingerprints Congenital Milia
Absence Of Dermatoglyphics Congenital Milia	Absence Of Fingerprints-Congenital Milia Syndrome
Absence Of Dermatoglyphics-Congenital Milia Syndrome	Basan-Baird Syndrome
BSNS	Adermatoglyphia, Congenital Facial Milia, Acral Blisters, Digital Contractures, Nail Abnormalities

Kleefstra Syndrome 1

9q Subtelomeric Deletion Syndrome	KLEFS1
Chromosome 9q34.3 Deletion Syndrome	9q- Syndrome
9q34 Deletion Syndrome	Kleefstra Syndrome Due To 9q34 Microdeletion
Kleefstra Syndrome	9q-Syndrome
9qstds	Kleefstra Syndrome Due To 9q Subtelomeric Deletion
Kleefstra Syndrome Due To Del(9)(Q34)	Kleefstra Syndrome Due To Monosomy 9q34
Chromosome 9q Subtelomeric Deletion Syndrome	Kleefstra Syndrome, Type 1

Beckwith-Wiedemann Syndrome

Wiedemann-Beckwith Syndrome	BWS
Exomphalos-Macroglossia-Gigantism Syndrome	Emg Syndrome
Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation	Emg Abnormality
Wbs	Exomphalos Macroglossia Gigantism Syndrome
Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation	Macroglossia Exomphalos Gigantism

Leukemia, Acute Myeloid

Acute Myeloid Leukemia	Leukemia, Acute Myelogenous
Acute Myelogenous Leukemia	AML
Leukemia, Acute Myeloid, Susceptibility To	Acute Myeloblastic Leukemia
Leukemia, Acute Myeloid, Reduced Survival In, Somatic	Acute Myeloid Leukaemia
Leukemia, Myelocytic, Acute	Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome
Secondary Aml	Acute Myelocytic Leukemia
Leukemia, Myeloid, Acute	Acute Myeloid Leukemia, Somatic
Leukemia, Acute Myeloid, Somatic	Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic
Acute Myeloblastic Leukaemia	Acute Myelogenous Leukaemia
Aml - Acute Myeloid Leukemia	Acute Myeloid Leukemia With Cebpa Somatic Mutations
Aml With Cebpa Somatic Mutations	Inherited Acute Myeloid Leukemia
Familial Aml	Inherited Aml
Pure Familial Aml	Pure Familial Acute Myeloid Leukemia
Secondary Acute Myeloid Leukemia	Therapy-Related Aml And Myelodysplastic Syndrome
Acute Myeloid Leukemia, Secondary	Acute Non-Lymphoblastic Leukemia
Acute Non-Lymphocytic Leukemia	Acute Biphenotypic Leukemia
Acute Undifferentiated Leukemia	Acute Myeloblastic Leukaemia With Multilineage Dysplasia
Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission	Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (9)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-16705	BRD4770	Inhibitor	99.69%	Unkown
HY-15647	BRD9539	Inhibitor	99.74%	Unkown
HY-111904	EHMT2-IN-2	Inhibitor	≥99.0%	Unkown
HY-111778	EHMT2-IN-1	Inhibitor	99.85%	Unkown
HY-133031	CSV0C018875	Inhibitor	/	Unkown
HY-44062	G9a-IN-1	Inhibitor	98.12%	Unkown
HY-RS04230	EHMT2 Human Pre-designed siRNA Set A		/	Unkown
HY-RS04231	Ehmt2 Mouse Pre-designed siRNA Set A		/	Unkown
HY-RS04232	Ehmt2 Rat Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	EHMT2	VGNC	VGNC:72041
Bos taurus	EHMT2	VGNC	VGNC:50609
Rattus norvegicus	EHMT2	RGD	RGD:1302972
Felis catus	EHMT2	VGNC	VGNC:61767
Canis familiaris	EHMT2	VGNC	VGNC:49100
Mus musculus	EHMT2	MGD	MGI:2148922

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