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 tr... See more...

Aliases for EHMT2 Gene

Aliases for EHMT2 Gene

  • Euchromatic Histone Lysine Methyltransferase 2 2 3 5
  • KMT1C 2 3 4
  • G9A 2 3 4
  • Euchromatic Histone-Lysine N-Methyltransferase 2 3 4
  • Histone-Lysine N-Methyltransferase EHMT2 3 4
  • Histone H3-K9 Methyltransferase 3 3 4
  • HLA-B Associated Transcript 8 2 3
  • Lysine N-Methyltransferase 1C 3 4
  • H3-K9-HMTase 3 3 4
  • C6orf30 3 4
  • BAT8 3 4
  • NG36 3 4
  • Histone-Lysine N-Methyltransferase, H3 Lysine-9 Specific 3 3
  • Chromosome 6 Open Reading Frame 30 2
  • Ankyrin Repeat-Containing Protein 3
  • G9A Histone Methyltransferase 3
  • HLA-B-Associated Transcript 8 4
  • Em:AF134726.3 2
  • Protein G9a 4
  • EC 2.1.1.- 4
  • NG36/G9a 2
  • EHMT2 5
  • 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 Hyperoxaluria, Primary, Type I and Kleefstra Syndrome. Among its related pathways are Lysine degradation and PKMTs methylate histone lysines. 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 Summary 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

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EHMT2 Gene

Genomics for EHMT2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for EHMT2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EHMT2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EHMT2

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

Genomic Locations for EHMT2 Gene

Genomic Locations for EHMT2 Gene
chr6:31,879,759-31,897,698
(GRCh38/hg38)
Size:
17,940 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 StructureGene Density

Proteins for EHMT2 Gene

  • 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. Interacts with PRDM9 and CDYL; interaction only takes place when PRDM9 is bound to hotspot DNA (By similarity).
    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=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAH09351.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAH18718.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH20970.2; Type=Erroneous initiation; Note=Extended N-terminus.; 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=Truncated N-terminus.; 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

Post-translational modifications for EHMT2 Gene

  • Methylated at Lys-185; automethylated.
  • Ubiquitination at Lys882, Lys1047, and Lys1164
  • Modification sites at PhosphoSitePlus

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

Protein Domains for EHMT2 Gene

InterPro:
Blocks:
  • Ankyrin repeat signature
  • Nuclear protein SET
  • Nuclear protein Zn2+-binding
  • SET-related region
ProtoNet:

Suggested Antigen Peptide Sequences for EHMT2 Gene

GenScript: Design optimal peptide antigens:
  • Euchromatic histone-lysine N-methyltransferase 2 (A2BED6_HUMAN)
  • Euchromatic histone-lysine N-methyltransferase 2 (A2BED7_HUMAN)
  • Protein G9a (EHMT2_HUMAN)
  • Euchromatic histone-lysine N-methyltransferase 2 (Q5JQA2_HUMAN)

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

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:
Reaction=L-lysyl(9)-[histone H3] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl(9)-[histone H3] + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:60280, Rhea:RHEA-COMP:15542, Rhea:RHEA-COMP:15546, ChEBI:CHEBI:15378, ChEBI:CHEBI:29969, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:61929; Evidence={ECO:0000269|PubMed:11316813, ECO:0000269|PubMed:20084102};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=N(6)-methyl-L-lysyl(9)-[histone H3] + S-adenosyl-L-methionine = H(+) + N(6),N(6)-dimethyl-L-lysyl(9)-[histone H3] + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:60284, Rhea:RHEA-COMP:15541, Rhea:RHEA-COMP:15542, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:61929, ChEBI:CHEBI:61976; Evidence={ECO:0000269|PubMed:11316813, ECO:0000269|PubMed:20084102};.

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

CRISPR Products

miRNA for EHMT2 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for 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 3
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 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 R&D Systems pathway for EHMT2 Gene
1 Cell Signaling Technology pathway for EHMT2 Gene
1 GeneTex pathway for EHMT2 Gene

SIGNOR curated interactions for EHMT2 Gene

Activates:

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

Drugs & Compounds for EHMT2 Gene

(20) 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 56
D-Lysine Approved, Experimental Nutra Agonist, Full 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

(11) 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
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

mRNA/cDNA for EHMT2 Gene

5 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EHMT2

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

Expression for EHMT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

  • Liver(4.5)
  • Muscle(4.5)
  • Nervous system(4.4)
  • Lung(2.9)
  • Skin(2.8)
  • Blood(2.7)
  • Kidney(2.6)
  • Intestine(2.6)
  • Heart(2.4)
  • Eye(2.3)
  • Spleen(2.2)
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 30 31
  • 99.36 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia BAT8 31
  • 92 (a)
OneToOne
EHMT2 30
  • 91.98 (n)
Oppossum
(Monodelphis domestica)
Mammalia EHMT2 31
  • 92 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia EHMT2 30 31
  • 90.85 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ehmt2 30 17 31
  • 88.03 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ehmt2 30
  • 87.78 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia EHMT2 31
  • 68 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia EHMT2 31
  • 70 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ehmt2 30
  • 66.19 (n)
Str.3432 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.7568 30
Zebrafish
(Danio rerio)
Actinopterygii ehmt2 30 31
  • 63.46 (n)
OneToOne
bat8 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7796 30
Fruit Fly
(Drosophila melanogaster)
Insecta G9a 31
  • 20 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.117 31
  • 43 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.2694 30
Species where no ortholog for EHMT2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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

(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

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EHMT2 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
716121 Benign: not provided 31,892,479(-) C/T SYNONYMOUS_VARIANT
724731 Benign: not provided 31,887,829(-) C/A SYNONYMOUS_VARIANT
753470 Likely Benign: not provided 31,888,387(-) C/G SYNONYMOUS_VARIANT
753471 Benign: not provided 31,892,503(-) G/A SYNONYMOUS_VARIANT
753997 Likely Benign: not provided 31,889,609(-) G/A GENIC_UPSTREAM_TRANSCRIPT_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for EHMT2 Gene

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

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

(8) MalaCards diseases for EHMT2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
hyperoxaluria, primary, type i
  • hp1
kleefstra syndrome
  • chromosome 9q34.3 deletion syndrome
carbohydrate metabolic disorder
  • disorder of carbohydrate transport and metabolism
primary hyperoxaluria
  • glycolic aciduria
kleefstra syndrome 1
  • klefs1
- 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
Open Targets Platform
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 23
  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 23
  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 23
  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 23
  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 23

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