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Aliases for EHMT2 Gene

Aliases for EHMT2 Gene

  • Euchromatic Histone-Lysine N-Methyltransferase 2 2 3 4 5
  • 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
  • KMT1C 3 4
  • BAT8 3 4
  • NG36 3 4
  • G9A 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
  • 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 N-Methyltransferase 2) is a Protein Coding gene. Diseases associated with EHMT2 include choline deficiency disease. Among its related pathways are Gene Expression and Cellular Senescence. 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

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

Genomics for EHMT2 Gene

Regulatory Elements for EHMT2 Gene

Promoters for EHMT2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EHMT2 on UCSC Golden Path with GeneCards custom track

Genomic Location for EHMT2 Gene

Chromosome:
6
Start:
31,879,759 bp from pter
End:
31,897,707 bp from pter
Size:
17,949 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.
    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

Proteomics data for EHMT2 Gene at MOPED

Post-translational modifications for EHMT2 Gene

Other Protein References for EHMT2 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for EHMT2 (EHMT2)

No data available for DME Specific Peptides for EHMT2 Gene

Domains & Families for EHMT2 Gene

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.
  • Contains 7 ANK repeats.
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.
  • Contains 1 post-SET domain.
  • Contains 1 pre-SET domain.
  • Contains 1 SET domain.
Family:
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. Suvar3-9 subfamily.
Similarity:
  • Contains 7 ANK repeats.
genes like me logo Genes that share domains with EHMT2: view

Function for EHMT2 Gene

Molecular function for EHMT2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone].
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.

Enzyme Numbers (IUBMB) for EHMT2 Gene

Gene Ontology (GO) - Molecular Function for EHMT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016279 protein-lysine N-methyltransferase activity IDA 20118233
GO:0070742 C2H2 zinc finger domain binding IPI 16702210
GO:1990841 promoter-specific chromatin binding IDA 23918802
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

  • Taconic Biosciences Mouse Models for EHMT2

CRISPR Products

miRNA for EHMT2 Gene

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

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
Jensen Localization Image for EHMT2 Gene COMPARTMENTS Subcellular localization image for EHMT2 gene
Compartment Confidence
nucleus 4
cytosol 2
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for EHMT2 Gene

Pathways & Interactions for EHMT2 Gene

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

Pathways by source for EHMT2 Gene

2 KEGG pathways for EHMT2 Gene
1 R&D Systems 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 from RNA polymerase II promoter IDA 19144645
GO:0006275 regulation of DNA replication IMP 22387026
GO:0006306 DNA methylation ISS --
GO:0006325 chromatin organization TAS --
GO:0007130 synaptonemal complex assembly 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

(14) Drugs for EHMT2 Gene - From: DGIdb, ApexBio, HMDB, 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 47
L-Lysine Approved Nutra Full agonist, Agonist 0
S-Adenosylmethionine Approved Nutra 0
s-adenosylhomocysteine Experimental Pharma 0
BIX 01294 Pharma G9a and GLP inhibitor 0

(5) Additional Compounds for EHMT2 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
C 21
1229236-78-5
Furamidine dihydrochloride
55368-40-6
SGC 707
TC-E 5003
17328-16-4
UNC 2327
1426152-53-5
genes like me logo Genes that share compounds with EHMT2: view

Transcripts for EHMT2 Gene

Unigene Clusters for EHMT2 Gene

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

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

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for EHMT2 Gene



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.
genes like me logo Genes that share expression patterns with EHMT2: view

Protein tissue co-expression partners for EHMT2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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 36
  • 99 (a)
OneToOne
EHMT2 35
  • 99.36 (n)
  • 99.47 (a)
cow
(Bos Taurus)
Mammalia BAT8 36
  • 92 (a)
OneToOne
EHMT2 35
  • 91.98 (n)
  • 97.9 (a)
dog
(Canis familiaris)
Mammalia EHMT2 35
  • 90.85 (n)
  • 96.99 (a)
EHMT2 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ehmt2 36
  • 90 (a)
OneToOne
Ehmt2 16
Ehmt2 35
  • 88.03 (n)
  • 95.61 (a)
oppossum
(Monodelphis domestica)
Mammalia EHMT2 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EHMT2 36
  • 68 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ehmt2 35
  • 87.78 (n)
  • 96.03 (a)
lizard
(Anolis carolinensis)
Reptilia EHMT2 36
  • 70 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.7568 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ehmt2 35
  • 66.19 (n)
  • 71.08 (a)
Str.3432 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7796 35
zebrafish
(Danio rerio)
Actinopterygii ehmt2 36
  • 53 (a)
OneToOne
bat8 35
ehmt2 35
  • 63.46 (n)
  • 63.98 (a)
fruit fly
(Drosophila melanogaster)
Insecta G9a 36
  • 20 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2694 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.117 36
  • 43 (a)
OneToMany
Species with no ortholog for EHMT2:
  • 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)

Paralogs for EHMT2 Gene

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

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

Variants for EHMT2 Gene

Sequence variations from dbSNP and Humsavar for EHMT2 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs486416 -- 31,888,293(-) CATGT(C/T)GTTTC intron-variant
rs535586 -- 31,892,560(-) TAGTC(A/G)GAGGA reference, synonymous-codon
rs612496 -- 31,892,170(-) CTGTC(C/T)CCAGG intron-variant
rs652888 -- 31,883,457(-) TGACC(C/T)CTGCC intron-variant
rs608118 -- 31,886,587(-) GTCAA(C/T)GCCCA reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
dgv6583n71 CNV Loss 21882294
nsv884472 CNV Loss 21882294
nsv508399 CNV Loss 20534489
nsv509126 CNV Insertion 20534489
dgv6595n71 CNV Loss 21882294
nsv884476 CNV Gain 21882294
dgv6596n71 CNV Loss 21882294
dgv6597n71 CNV Loss 21882294
dgv6598n71 CNV Loss 21882294
nsv884486 CNV Loss 21882294
dgv6599n71 CNV Loss 21882294
dgv6600n71 CNV Loss 21882294
dgv6601n71 CNV Loss 21882294

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)

Relevant External Links for EHMT2 Gene

HapMap Linkage Disequilibrium report
EHMT2
Human Gene Mutation Database (HGMD)
EHMT2

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

Disorders for EHMT2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for EHMT2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
choline deficiency disease
  • choline deficiency
- elite association - COSMIC cancer census association via MalaCards
Search EHMT2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for EHMT2

Genetic Association Database (GAD)
EHMT2
Human Genome Epidemiology (HuGE) Navigator
EHMT2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EHMT2
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. The G9a gene in the human major histocompatibility complex encodes a novel protein containing ankyrin-like repeats. (PMID: 8457211) Milner C.M. … Campbell R.D. (Biochem. J. 1993) 2 3 4 23 67
  2. 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. (J. Biol. Chem. 2001) 2 3 23
  3. G9a and Glp methylate lysine 373 in the tumor suppressor p53. (PMID: 20118233) Huang J. … Berger S.L. (J. Biol. Chem. 2010) 3 23
  4. A jumonji (Jarid2) protein complex represses cyclin D1 expression by methylation of histone H3-K9. (PMID: 19010785) Shirato H. … Takeuchi T. (J. Biol. Chem. 2009) 3 23
  5. Hypoxic silencing of tumor suppressor RUNX3 by histone modification in gastric cancer cells. (PMID: 18850007) Lee S.H. … Lee Y.M. (Oncogene 2009) 3 23

Products for EHMT2 Gene

Sources for EHMT2 Gene

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