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EHMT2 Gene(Protein Coding)

Euchromatic Histone Lysine Methyltransferase 2

GCID:
GC06M031879
GIFtS:
50
Genes Participants
UDN Logo

Aliases for EHMT2 Gene

Aliases for EHMT2 Gene

  • Euchromatic Histone Lysine Methyltransferase 2 2 3 5
  • Euchromatic Histone-Lysine N-Methyltransferase 2 3 4
  • Histone H3-K9 Methyltransferase 3 3 4
  • Lysine N-Methyltransferase 1C 3 4
  • HLA-B Associated Transcript 8 2 3
  • H3-K9-HMTase 3 3 4
  • C6orf30 3 4
  • KMT1C 3 4
  • BAT8 3 4
  • NG36 3 4
  • G9A 3 4
  • Histone-Lysine N-Methyltransferase, H3 Lysine-9 Specific 3 3
  • Histone-Lysine N-Methyltransferase EHMT2 3
  • Chromosome 6 Open Reading Frame 30 2
  • Ankyrin Repeat-Containing Protein 3
  • G9A Histone Methyltransferase 3
  • HLA-B-Associated Transcript 8 4
  • Protein G9a 4
  • EC 2.1.1.43 4
  • EC 2.1.1.- 4
  • GAT8 3

External Ids for EHMT2 Gene

Previous HGNC Symbols for EHMT2 Gene

  • C6orf30
  • BAT8

Previous GeneCards Identifiers for EHMT2 Gene

  • GC06M031956
  • GC06M031847
  • GC06M031633

Summaries for EHMT2 Gene

Entrez Gene Summary for EHMT2 Gene

  • 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]

GeneCards Summary for EHMT2 Gene

EHMT2 (Euchromatic Histone Lysine Methyltransferase 2) is a Protein Coding gene. Diseases associated with EHMT2 include Ocular Hyperemia and Kleefstra Syndrome. Among its related pathways are Gene Expression and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. Gene Ontology (GO) annotations related to this gene include p53 binding and C2H2 zinc finger domain binding. An important paralog of this gene is EHMT1.

UniProtKB/Swiss-Prot for EHMT2 Gene

  • Histone methyltransferase that specifically mono- and dimethylates Lys-9 of histone H3 (H3K9me1 and H3K9me2, respectively) in euchromatin. H3K9me represents a specific tag for epigenetic transcriptional repression by recruiting HP1 proteins to methylated histones. Also mediates monomethylation of Lys-56 of histone H3 (H3K56me1) in G1 phase, leading to promote interaction between histone H3 and PCNA and regulating DNA replication. Also weakly methylates Lys-27 of histone H3 (H3K27me). Also required for DNA methylation, the histone methyltransferase activity is not required for DNA methylation, suggesting that these 2 activities function independently. Probably targeted to histone H3 by different DNA-binding proteins like E2F6, MGA, MAX and/or DP1. May also methylate histone H1. In addition to the histone methyltransferase activity, also methylates non-histone proteins: mediates dimethylation of Lys-373 of p53/TP53. Also methylates CDYL, WIZ, ACIN1, DNMT1, HDAC1, ERCC6, KLF12 and itself.

Tocris Summary for EHMT2 Gene

  • Lysine methyltransferases are enyzmes that catalyze the transfer of methyl groups from S-adenosylmethionine (SAM) to the lysine residues on histones, particularly histones H3 and H4. The dysregulation of this methylation is critical in the development of cancer.

Gene Wiki entry for EHMT2 Gene

Additional gene information for EHMT2 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EHMT2 Gene

Genomics for EHMT2 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for EHMT2 Gene

Promoters and enhancers for EHMT2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH06J031896 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 -0.2 -158 3.5 HDGF PKNOX1 SMAD1 ZFP64 ARID4B SIN3A ZNF2 YY1 POLR2B ZNF766 EHMT2 C2 BAG6 HLA-C MSH5 CCHCR1 CSNK2B SAPCD1 VWA7 SKIV2L
GH06J031619 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 19.1 +276.5 276480 4 CLOCK ZFP64 FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC SNORA38 PRRC2A GC06P031991 GC06P031994 GC06P032031 GC06P032039 GC06P032042 GC06P032176 GC06P032224 GC06P032226
GH06J031545 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 19.9 +350.2 350175 3.2 CLOCK MLX YBX1 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 NFKBIL1 ATP6V1G2 ATP6V1G2-DDX39B DDX39B ATF6B LY6G5B LSM2 DHX16 MDC1 PPP1R10
GH06J031196 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 20.2 +699.8 699809 3.1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF548 SP3 NFYC ZNF610 ENSG00000272501 GC06M031194 HCG27 PSORS1C3 POU5F1 PSORS1C2 PRRT1 CCHCR1 HLA-C GNL1
GH06J032184 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 11 -293.6 -293573 13.4 CLOCK MLX YBX1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 PBX2 NOTCH4 GPSM3 ATF6B BRD2 DDX39B LY6G5B LSM2 RPL3P2 SKIV2L
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EHMT2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EHMT2 gene promoter:
  • AP-1
  • IRF-1
  • p300
  • AREB6
  • C/EBPbeta
  • c-Jun
  • ATF-2

Genomic Locations for EHMT2 Gene

Genomic Locations for EHMT2 Gene
chr6:31,879,759-31,897,707
(GRCh38/hg38)
Size:
17,949 bases
Orientation:
Minus strand
chr6:31,847,536-31,865,464
(GRCh37/hg19)
Size:
17,929 bases
Orientation:
Minus strand

Genomic View for EHMT2 Gene

Genes around EHMT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EHMT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EHMT2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for EHMT2 Gene

Proteins for EHMT2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for EHMT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96KQ7-EHMT2_HUMAN
    Recommended name:
    Histone-lysine N-methyltransferase EHMT2
    Protein Accession:
    Q96KQ7
    Secondary Accessions:
    • B0UZY2
    • Q14349
    • Q5JP83
    • Q5JQ92
    • Q5JQA1
    • Q5JQG3
    • Q6PK06
    • Q96MH5
    • Q96QD0
    • Q9UQL8
    • Q9Y331

    Protein attributes for EHMT2 Gene

    Size:
    1210 amino acids
    Molecular mass:
    132370 Da
    Quaternary structure:
    • Heterodimer; heterodimerizes with EHMT1/GLP. Interacts with GFI1B and WIZ. Part of the E2F6.com-1 complex in G0 phase composed of E2F6, MGA, MAX, TFDP1, CBX3, BAT8, EHMT1, RING1, RNF2, MBLR, L3MBTL2 and YAF2. Part of a complex composed of TRIM28, HDAC1, HDAC2 and EHMT2. Interacts with UHRF1. Interacts with CDYL. Interacts with REST only in the presence of CDYL. Part of a complex containing at least CDYL, REST, WIZ, SETB1, EHMT1 and EHMT2.
    SequenceCaution:
    • Sequence=AAD21811.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAD21812.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAH02686.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH09351.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH18718.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH20970.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB63294.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAB63295.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAA49491.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for EHMT2 Gene

    Alternative splice isoforms for EHMT2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EHMT2 Gene

Protein Expression for EHMT2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for EHMT2 Gene

  • Methylated at Lys-185; automethylated.
  • Ubiquitination at isoforms=21164, isoforms=21047, and Lys882
  • Modification sites at PhosphoSitePlus

Other Protein References for EHMT2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EHMT2 Gene

Domains & Families for EHMT2 Gene

Gene Families for EHMT2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for EHMT2 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for EHMT2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96KQ7

UniProtKB/Swiss-Prot:

EHMT2_HUMAN :
  • The SET domain mediates interaction with WIZ.
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. Suvar3-9 subfamily.
Domain:
  • The SET domain mediates interaction with WIZ.
  • The ANK repeats bind H3K9me1 and H3K9me2.
  • In the pre-SET domain, Cys residues bind 3 zinc ions that are arranged in a triangular cluster; some of these Cys residues contribute to the binding of two zinc ions within the cluster.
Family:
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. Suvar3-9 subfamily.
genes like me logo Genes that share domains with EHMT2: view

Function for EHMT2 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for EHMT2 Gene

UniProtKB/Swiss-Prot Function:
Histone methyltransferase that specifically mono- and dimethylates Lys-9 of histone H3 (H3K9me1 and H3K9me2, respectively) in euchromatin. H3K9me represents a specific tag for epigenetic transcriptional repression by recruiting HP1 proteins to methylated histones. Also mediates monomethylation of Lys-56 of histone H3 (H3K56me1) in G1 phase, leading to promote interaction between histone H3 and PCNA and regulating DNA replication. Also weakly methylates Lys-27 of histone H3 (H3K27me). Also required for DNA methylation, the histone methyltransferase activity is not required for DNA methylation, suggesting that these 2 activities function independently. Probably targeted to histone H3 by different DNA-binding proteins like E2F6, MGA, MAX and/or DP1. May also methylate histone H1. In addition to the histone methyltransferase activity, also methylates non-histone proteins: mediates dimethylation of Lys-373 of p53/TP53. Also methylates CDYL, WIZ, ACIN1, DNMT1, HDAC1, ERCC6, KLF12 and itself.
UniProtKB/Swiss-Prot CatalyticActivity:
S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone].

Enzyme Numbers (IUBMB) for EHMT2 Gene

Phenotypes From GWAS Catalog for EHMT2 Gene

Gene Ontology (GO) - Molecular Function for EHMT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA --
GO:0002039 p53 binding IEA,IPI 20118233
GO:0005515 protein binding IEA,IPI 16189514
GO:0008168 methyltransferase activity IEA --
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with EHMT2: view
genes like me logo Genes that share phenotypes with EHMT2: view

Animal Models for EHMT2 Gene

MGI Knock Outs for EHMT2:

Animal Model Products

miRNA for EHMT2 Gene

miRTarBase miRNAs that target EHMT2

Clone Products

  • Addgene plasmids for EHMT2

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EHMT2 Gene

Localization for EHMT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EHMT2 Gene

Nucleus. Chromosome. Note=Associates with euchromatic regions. Does not associate with heterochromatin.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EHMT2 gene
Compartment Confidence
nucleus 5
cytosol 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EHMT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA 19144645
GO:0005634 nucleus IDA,ISS --
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IEA --
GO:0016607 nuclear speck IDA --
genes like me logo Genes that share ontologies with EHMT2: view

Pathways & Interactions for EHMT2 Gene

genes like me logo Genes that share pathways with EHMT2: view

Pathways by source for EHMT2 Gene

1 GeneTex pathway for EHMT2 Gene
2 KEGG pathways for EHMT2 Gene
1 R&D Systems pathway for EHMT2 Gene
1 Cell Signaling Technology pathway for EHMT2 Gene

Gene Ontology (GO) - Biological Process for EHMT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IDA 19144645
GO:0006275 regulation of DNA replication IMP 22387026
GO:0006306 DNA methylation ISS --
GO:0006325 chromatin organization IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
genes like me logo Genes that share ontologies with EHMT2: view

No data available for SIGNOR curated interactions for EHMT2 Gene

Drugs & Compounds for EHMT2 Gene

Products:

  1. Drug

(21) Drugs for EHMT2 Gene - From: PharmGKB, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Entacapone Approved, Investigational Pharma COMT inhibitor, Potent COMT inhibitor; blocks alpha-synuclein aggregation 54
L-Lysine Approved Nutra Full agonist, Agonist 0
s-adenosylhomocysteine Experimental Pharma 0
UNC0638 Pharma G9a/GLP HMTase inhibitor, potent and selective 0
Antithyroid Preparations Pharma 0

(4) Additional Compounds for EHMT2 Gene - From: HMDB and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
s-adenosylmethionine
  • (3S)-5'-[(3-amino-3-Carboxypropyl)methylsulfonio]-5'-deoxyadenosine, inner salt
  • [1-(Adenin-9-yl)-1,5-dideoxy-beta-D-ribofuranos-5-yl][(3S)-3-amino-3-carboxypropyl](methyl)sulfonium
  • Acylcarnitine
  • AdoMet
  • S-(5'-Deoxyadenosin-5'-yl)-L-methionine
 485-80-3
Furamidine dihydrochloride
55368-40-6
SGC 707
UNC 2327
1426152-53-5

(5) Tocris Compounds for EHMT2 Gene

Compound Action Cas Number
C 21 Selective PRMT1 inhibitor 1229236-78-5
Furamidine dihydrochloride Selective PRMT1 inhibitor 55368-40-6
SGC 707 Potent and selective allosteric inhibitor of PRMT3
TC-E 5003 Selective PRMT1 inhibitor 17328-16-4
UNC 2327 Allosteric inhibitor of PRMT3 1426152-53-5

(12) ApexBio Compounds for EHMT2 Gene

Compound Action Cas Number
A 366 G9a/GLP histone lysine methyltransferase inhibitor 1527503-11-2
BIX 01294 G9a and GLP inhibitor 935693-62-2
Entacapone COMT inhibitor 130929-57-6
EPZ004777 DOT1L inhibitor 1338466-77-5
PFI-2 1627676-59-8
SGI-1027 DNMT inhibitor 1020149-73-8
UNC 0224 G9a histone methyltransferase inhibitor 1197196-48-7
UNC 0631 G9a inhibitor 1320288-19-4
UNC 0642 G9a and GLP histone lysine methyltransferase inhibitor 1481677-78-4
UNC 0646 G9a and GLP inhibitor 1320288-17-2
UNC0321 G9a inhibitor 1238673-32-9
UNC0638 G9a/GLP HMTase inhibitor, potent and selective 1255580-76-7
genes like me logo Genes that share compounds with EHMT2: view

Drug Products

Transcripts for EHMT2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for EHMT2 Gene

(9) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(332) Selected AceView cDNA sequences:
(12) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for EHMT2 Gene

Euchromatic histone-lysine N-methyltransferase 2:
Representative Sequences:

Clone Products

  • Addgene plasmids for EHMT2

Alternative Splicing Database (ASD) splice patterns (SP) for EHMT2 Gene

No ASD Table

Relevant External Links for EHMT2 Gene

GeneLoc Exon Structure for
EHMT2
ECgene alternative splicing isoforms for
EHMT2

Expression for EHMT2 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EHMT2 Gene

mRNA expression in normal human tissues for EHMT2 Gene
mRNA expression by GTEx for EHMT2 GenemRNA expression by BioGPS for EHMT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EHMT2 Gene

This gene is overexpressed in CD8 Tcells (17.9), Bone (11.1), Fetal ovary (8.1), Blymphocyte (6.7), and Peripheral blood mononuclear cells (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EHMT2 Gene



Protein tissue co-expression partners for EHMT2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EHMT2 Gene:

EHMT2

SOURCE GeneReport for Unigene cluster for EHMT2 Gene:

Hs.709218

mRNA Expression by UniProt/SwissProt for EHMT2 Gene:

Q96KQ7-EHMT2_HUMAN
Tissue specificity: Expressed in all tissues examined, with high levels in fetal liver, thymus, lymph node, spleen and peripheral blood leukocytes and lower level in bone marrow.

Evidence on tissue expression from TISSUES for EHMT2 Gene

  • Muscle(4.4)
  • Liver(4.3)
  • Nervous system(4.2)
  • Lung(2.2)
  • Blood(2)
genes like me logo Genes that share expression patterns with EHMT2: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for EHMT2 Gene

Orthologs for EHMT2 Gene

This gene was present in the common ancestor of animals.

Orthologs for EHMT2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia EHMT2 34 33
  • 99.36 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia BAT8 34
  • 92 (a)
 OneToOne
EHMT2 33
  • 91.98 (n)
oppossum
(Monodelphis domestica)
 Mammalia EHMT2 34
  • 92 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia EHMT2 34 33
  • 90.85 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Ehmt2 16 34 33
  • 88.03 (n)
rat
(Rattus norvegicus)
 Mammalia Ehmt2 33
  • 87.78 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia EHMT2 34
  • 68 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia EHMT2 34
  • 70 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia ehmt2 33
  • 66.19 (n)
Str.3432 33
African clawed frog
(Xenopus laevis)
 Amphibia Xl.7568 33
zebrafish
(Danio rerio)
 Actinopterygii ehmt2 34 33
  • 63.46 (n)
 OneToOne
bat8 33
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.7796 33
fruit fly
(Drosophila melanogaster)
 Insecta G9a 34
  • 20 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.117 34
  • 43 (a)
 OneToMany
Cin.2694 33
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.2694 33
Species where no ortholog for EHMT2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for EHMT2 Gene

ENSEMBL:
Gene Tree for EHMT2 (if available)
TreeFam:
Gene Tree for EHMT2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EHMT2: view image

Paralogs for EHMT2 Gene

Paralogs for EHMT2 Gene

(7) SIMAP similar genes for EHMT2 Gene using alignment to 4 proteins:

  • EHMT2_HUMAN
  • A2ABF8_HUMAN
  • A2ABF9_HUMAN
  • H0Y4K5_HUMAN
genes like me logo Genes that share paralogs with EHMT2: view

Variants for EHMT2 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for EHMT2 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000109467 -- 31,885,525(-) A/T intron_variant
rs1000164594 -- 31,881,238(-) T/C intron_variant
rs1000225905 -- 31,881,894(-) A/G intron_variant
rs1000468295 -- 31,881,539(-) A/G intron_variant
rs1000571408 -- 31,887,385(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for EHMT2 Gene

Variant ID Type Subtype PubMed ID
nsv601960 CNV loss 21841781
nsv509126 CNV insertion 20534489
nsv508399 CNV deletion 20534489
nsv1126749 CNV deletion 24896259
nsv1112900 CNV deletion 24896259
nsv1073969 CNV deletion 25765185
dgv10463n54 CNV loss 21841781
dgv10461n54 CNV loss 21841781
dgv10404n54 CNV loss 21841781
dgv10403n54 CNV loss 21841781

Variation tolerance for EHMT2 Gene

Residual Variation Intolerance Score: 9.05% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.98; 74.77% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EHMT2 Gene

Human Gene Mutation Database (HGMD)
EHMT2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EHMT2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EHMT2 Gene

Disorders for EHMT2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for EHMT2 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ocular hyperemia
  • hyperemia eye
kleefstra syndrome
  • chromosome 9q34.3 deletion syndrome
prader-willi syndrome
  • pws
- elite association - COSMIC cancer census association via MalaCards
Search EHMT2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EHMT2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with EHMT2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EHMT2 Gene

Publications for EHMT2 Gene

  1. Set domain-containing protein, G9a, is a novel lysine-preferring mammalian histone methyltransferase with hyperactivity and specific selectivity to lysines 9 and 27 of histone H3. (PMID: 11316813) Tachibana M … Shinkai Y (The Journal of biological chemistry 2001) 2 3 4 22 58
  2. The G9a gene in the human major histocompatibility complex encodes a novel protein containing ankyrin-like repeats. (PMID: 8457211) Milner CM … Campbell RD (The Biochemical journal 1993) 2 3 4 22 58
  3. G9a and Glp methylate lysine 373 in the tumor suppressor p53. (PMID: 20118233) Huang J … Berger SL (The Journal of biological chemistry 2010) 3 4 22 58
  4. UHRF1 binds G9a and participates in p21 transcriptional regulation in mammalian cells. (PMID: 19056828) Kim JK … Pradhan S (Nucleic acids research 2009) 3 4 22 58
  5. The ankyrin repeats of G9a and GLP histone methyltransferases are mono- and dimethyllysine binding modules. (PMID: 18264113) Collins RE … Cheng X (Nature structural & molecular biology 2008) 3 4 22 58

Products for EHMT2 Gene

  • Addgene plasmids for EHMT2