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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
  • 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
  • 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 Kleefstra Syndrome. Among its related pathways are Chromatin organization and Cellular Senescence (REACTOME). 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

Regulatory Elements for EHMT2 Gene

Enhancers for EHMT2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06H032583 1.5 Ensembl ENCODE dbSUPER 20.9 -687.6 -687596 3 GLI4 ZNF2 GLIS2 KLF7 SP3 YY2 TSHZ1 ZNF518A ZNF658 ZSCAN16 HLA-DRB1 HLA-DRB6 HLA-DQA2 HLA-DRB5 BRD2 LSM2 RXRB HLA-DQB1-AS1 PPT2 TNXB
GH06H031196 1.4 ENCODE dbSUPER 20.2 +699.8 699810 3 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 PSORS1C3 ENSG00000272501 POU5F1 PSORS1C2 PRRT1 HLA-C GNL1 EHMT2 CCHCR1 LY6G5B
GH06H031619 1.4 ENCODE dbSUPER 19.1 +276.5 276480 4 ZFP64 FEZF1 DMAP1 YY1 ZNF143 SP3 NFYC MEF2D SSRP1 ZNF610 LSM2 ATF6B GTF2H4 LY6G5B MDC1 PPT2 DDX39B EGFL8 NFKBIL1 DXO
GH06H031545 1.2 ENCODE 19.8 +350.2 350175 3 MLX YBX1 FEZF1 DMAP1 YY1 ZNF143 SP3 NFYC ZC3H11A MEF2D DDX39B LSM2 LY6G5B ATF6B DHX16 MDC1 NRM TCF19 NFKBIL1 MICA
GH06H031774 1.7 Ensembl ENCODE dbSUPER 12.2 +120.9 120901 3 MLX DMAP1 YY1 SLC30A9 SP3 NFYC MEF2D GLIS1 NBN NR2C1 GTF2H4 PPT2 EGFL8 DXO ZBTB12 LY6G5B PRRC2A PRRT1 NFKBIL1 LSM2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EHMT2 on UCSC Golden Path with GeneCards custom track

Promoters for EHMT2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000195615 7 1801 ZFP64 ARID4B SIN3A ZNF2 YY1 ZNF766 ZNF143 SP3 ZHX2 MXD4

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

Post-translational modifications for EHMT2 Gene

  • Methylated at Lys-185; automethylated.
  • Ubiquitination at isoforms=2882, isoforms=21047, and isoforms=21164
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for EHMT2 (EHMT2)
  • Santa Cruz Biotechnology (SCBT) Antibodies for EHMT2

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

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 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

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 IPI 20118233
GO:0005515 protein binding 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

Clone Products

  • Addgene plasmids for EHMT2
  • Applied Biological Materials Clones for EHMT2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
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 from RNA polymerase II promoter IDA 19144645
GO:0006275 regulation of DNA replication IMP 22387026
GO:0006306 DNA methylation ISS --
GO:0006357 regulation of transcription from RNA polymerase II promoter IEA --
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

(19) Drugs for EHMT2 Gene - From: 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
A 366 Pharma G9a/GLP histone lysine methyltransferase inhibitor 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
s-adenosylmethionine
  • (3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine
  • 2-S-Adenosyl-L-methionine
  • 5'-Deoxyadenosine-5'-L-methionine disulfate ditosylate
  • 5'-Deoxyadenosine-5'-L-methionine disulphate ditosylate
  • Active methionine
29908-03-0
Furamidine dihydrochloride
55368-40-6
MS 023 dihydrochloride
SGC 707
XY1
1624117-53-8

(5) Tocris Compounds for EHMT2 Gene

Compound Action Cas Number
Furamidine dihydrochloride Selective PRMT1 inhibitor 55368-40-6
MS 023 dihydrochloride Potent and selective type I PRMT inhibitor
SGC 707 Potent and selective allosteric inhibitor of PRMT3
TC-E 5003 Selective PRMT1 inhibitor 17328-16-4
XY1 Negative control of SGC 707 (Cat. No. 5367) 1624117-53-8

(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

Unigene Clusters for EHMT2 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for EHMT2
  • Applied Biological Materials Clones for EHMT2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, 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)
genes like me logo Genes that share expression patterns with EHMT2: view

Primer Products

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
oppossum
(Monodelphis domestica)
Mammalia EHMT2 34
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BAT8 34
  • 92 (a)
OneToOne
EHMT2 33
  • 91.98 (n)
dog
(Canis familiaris)
Mammalia EHMT2 33 34
  • 90.85 (n)
mouse
(Mus musculus)
Mammalia Ehmt2 33 16 34
  • 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
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)

Paralogs for EHMT2 Gene

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
rs1000109467 -- 31,885,525(+) ATGCC(A/T)GAGAG intron-variant
rs1000164594 -- 31,881,238(+) AGTGG(C/T)GGGCA intron-variant
rs1000225905 -- 31,881,894(+) AGGTC(A/G)GGAGT intron-variant
rs1000468295 -- 31,881,539(+) AGGAG(A/G)GGAGC intron-variant, nc-transcript-variant
rs1000571408 -- 31,887,385(+) GCACT(C/T)AGAAC intron-variant

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)

Relevant External Links for EHMT2 Gene

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

Disorder Aliases PubMed IDs
kleefstra syndrome
  • 9q subtelomeric deletion syndrome
- 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. 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 60
  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 60
  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 60
  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 60
  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 60

Products for EHMT2 Gene

  • Addgene plasmids for EHMT2

Sources for EHMT2 Gene

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