EHMT2 - euchromatic histone lysine methyltransferase 2 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10919

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
Molecular Function GO Annotation Evidence References Source
enables C2H2 zinc finger domain binding IPI
IPI: Inferred from physical interaction
16702210 GOA
enables histone H3K56 methyltransferase activity IMP
IMP: Inferred from mutant phenotype
22387026 GOA
enables p53 binding IPI
IPI: Inferred from physical interaction
20118233 GOA
enables promoter-specific chromatin binding IDA
IDA: Inferred from direct assay
23918802 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16189514 GOA
enables protein-lysine N-methyltransferase activity IDA
IDA: Inferred from direct assay
19144645 GOA
enables transcription corepressor binding IPI
IPI: Inferred from physical interaction
29628311 GOA
Biological Process GO Annotation Evidence References Source
acts upstream of or within cellular response to starvation IDA
IDA: Inferred from direct assay
23918802 GOA
acts upstream of or within negative regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
19144645 GOA
involved in peptidyl-lysine dimethylation IDA
IDA: Inferred from direct assay
20118233 GOA
involved in regulation of DNA replication IMP
IMP: Inferred from mutant phenotype
22387026 GOA
Cellular Component GO Annotation Evidence References Source
located in chromatin IDA
IDA: Inferred from direct assay
19144645 GOA
located in nucleus IDA
IDA: Inferred from direct assay
19144645 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EHMT2 Protein Structure

Ank_2

Ank_2: Ankyrin repeats (3 copies) (656 - 741)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (751 - 815)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (819 - 881)

Pre-SET

Pre-SET: Pre-SET motif (925 - 1030)

SET

SET: SET domain (1049 - 1155)

  • 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

EHMT2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
EHMT2 Q96KQ7 KDM1A Homo sapiens O60341-1 26751641
Intra
EHMT2 Q96KQ7 MTA2 Homo sapiens O94776 26028330
Intra
EHMT2 Q96KQ7 MTA2 Homo sapiens O94776 26028330
Intra
EHMT2 Q96KQ7 MTA3 Homo sapiens Q9BTC8 26028330
Intra
EHMT2 Q96KQ7 MTA3 Homo sapiens Q9BTC8 26028330
Intra
EHMT2 Q96KQ7 MTA3 Homo sapiens Q9BTC8 26028330
Intra
EHMT2 Q96KQ7 NAA11 Homo sapiens Q9BSU3 32296183
Intra
EHMT2 Q96KQ7 HDAC1 Homo sapiens Q13547 16287849
Intra
EHMT2 Q96KQ7 HDAC1 Homo sapiens Q13547 26028330
Intra
EHMT2 Q96KQ7 HDAC1 Homo sapiens Q13547 26028330
Intra
EHMT2 Q96KQ7 KAT2B Homo sapiens Q92831 24492005
Intra
EHMT2 Q96KQ7 GATA3 Homo sapiens P23771 26028330
Intra
EHMT2 Q96KQ7 GATA3 Homo sapiens P23771 26028330
Intra
EHMT2 Q96KQ7 GATA3 Homo sapiens P23771 26028330
Intra
EHMT2 Q96KQ7 MTA1 Homo sapiens Q13330 26028330
Intra
EHMT2 Q96KQ7 MTA1 Homo sapiens Q13330 26028330
Intra
EHMT2 Q96KQ7 ZNF446 Homo sapiens Q9NWS9-2 32296183
Intra
EHMT2 Q96KQ7 PLOD3 Homo sapiens O60568 26028330
Intra
EHMT2 Q96KQ7 PRRC2B Homo sapiens Q5JSZ5 16189514
Intra
EHMT2 Q96KQ7 KLF12 Homo sapiens Q9Y4X4 16189514
Intra
EHMT2 Q96KQ7 KLF12 Homo sapiens Q9Y4X4 32296183
Intra
EHMT2 Q96KQ7 DNMT3B Homo sapiens Q9UBC3 18953337
Intra
EHMT2 Q96KQ7 EPDR1 Homo sapiens Q9UM22 32296183
Intra
EHMT2 Q96KQ7 GFI1 Homo sapiens Q99684 16287849
Cross
EHMT2 Q96KQ7 Gfi1 Rattus norvegicus Q07120 16287849
Cross
EHMT2 Q96KQ7 Gfi1 Rattus norvegicus Q07120 16287849
Cross: Cross-species interaction Intra: Intraspecies interaction

EHMT2 Antibodies

Cat. No. Product Name Application Reactivity
HY-P82628 EHMT2 Antibody (YA2373) WB, IHC-P Human
HY-P84734 EHMT2 Antibody (YA4431) IHC-P, ICC/IF, FC, ELISA Human
HY-P84734A EHMT2 Antibody (YA4431)(PBS only) IHC-P, ICC/IF, FC, ELISA Human

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

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
Others EHMT2 NCBI