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EHMT2 Gene

protein-coding   GIFtS: 61
GCID: GC06M031847

Euchromatic Histone-Lysine N-Methyltransferase 2

(Previous names: chromosome 6 open reading frame 30, HLA-B associated transcript...)
(Previous symbols: C6orf30, BAT8)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Euchromatic Histone-Lysine N-Methyltransferase 21 2 3     GAT82 5
BAT81 2 3     Chromosome 6 Open Reading Frame 301
C6orf301 2 3     Ankyrin Repeat-Containing Protein2
G9A2 3 5     G9A Histone Methyltransferase2
NG362 3 5     Histone-Lysine N-Methyltransferase EHMT22
HLA-B Associated Transcript 81 2     Histone-Lysine N-Methyltransferase, H3 Lysine-9 Specific 32
Histone H3-K9 Methyltransferase 32 3     EC 2.1.1.-3
Lysine N-Methyltransferase 1C2 3     EC 2.1.1.433
KMT1C2 3     HLA-B-Associated Transcript 83
H3-K9-HMTase 32 3     Protein G9a3

External Ids:    HGNC: 141291   Entrez Gene: 109192   Ensembl: ENSG000002043717   OMIM: 6045995   UniProtKB: Q96KQ73   

Export aliases for EHMT2 gene to outside databases

Previous GC identifers: GC06M031956 GC06M031633


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for EHMT2 Gene:
This gene is located in a gene cluster within the human major histocompatibility complex class III region on
chromosome 6. This gene was thought to be two different genes, NG36 and G9a, adjacent to each other but recent
publications show that there is only a single gene at this locus. The encoded protein is a histone
methyltransferase, which may be involved in repression of transcription. Alternative splicing results in multiple
transcript variants. (provided by RefSeq, Jan 2014)

GeneCards Summary for EHMT2 Gene:
EHMT2 (euchromatic histone-lysine N-methyltransferase 2) is a protein-coding gene. Diseases associated with EHMT2 include cockayne syndrome, and sporadic breast cancer. GO annotations related to this gene include protein-lysine N-methyltransferase activity and p53 binding. An important paralog of this gene is NSD1.

UniProtKB/Swiss-Prot: EHMT2_HUMAN, Q96KQ7
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

summary for EHMT2 Gene:
Histone methyltransferases (HMTs) are a group of enyzmes that catalyze the transfer of methyl groups from
S-adenosylmethionine (SAM) to histones and are closely related in biological activity to the DNA
methyltransferases. Histone methylation occurs predominantly on the side chains of lysine and arginine
residues in histones H3 and H4, and multiple methyl groups may be added to each residue. Histone
methyltransferases can be subdivided according to their target residue: those which methylate lysine
residues on histone proteins are known as protein lysine methyltransferases (PKMTs) whereas those acting on
arginine residues are known as protein arginine methyltransferases (PRMTs).

Gene Wiki entry for EHMT2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the EHMT2 gene promoter:
         AREB6   C/EBPbeta   AP-1   ATF-2   p300   c-Jun   IRF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEHMT2 promoter sequence
   Search Chromatin IP Primers for EHMT2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EHMT2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.31   Ensembl cytogenetic band:  6p21.33   HGNC cytogenetic band: 6p21.3

EHMT2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EHMT2 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M031847:  view genomic region     (about GC identifiers)

Start:
31,847,536 bp from pter      End:
31,865,464 bp from pter
Size:
17,929 bases      Orientation:
minus strand

6 alternative locations:
Chr6-,NT_167245 3,133,118-3,151,046      Chr6-,NT_167244 3,162,290-3,180,225      Chr6-,NT_167247 3,227,409-3,245,344     
Chr6-,NT_167249 3,180,279-3,190,124      Chr6-,NT_113891.2 3,357,290-3,375,218      Chr6-,NT_167248 3,141,328-3,159,255     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: EHMT2_HUMAN, Q96KQ7 (See protein sequence)
Recommended Name: Histone-lysine N-methyltransferase EHMT2  
Size: 1210 amino acids; 132370 Da
Subunit: 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
Caution: While NG36 and G9a were originally thought to derive from 2 separate genes, all G9A transcripts also
contain the in frame coding sequence of NG36 (PubMed:11707778)
Caution: It is uncertain whether Met-1 or Met-21 is the initiator methionine
Sequence caution: Sequence=AAD21811.1; Type=Erroneous gene model prediction; Sequence=AAD21812.1; Type=Erroneous
gene model prediction; Sequence=AAH02686.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=AAH09351.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAH18718.1;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH20970.2; Type=Erroneous
initiation; Note=Translation N-terminally shortened; Sequence=BAB63294.1; Type=Erroneous gene model prediction;
Sequence=BAB63295.1; Type=Erroneous gene model prediction; Sequence=CAA49491.1; Type=Erroneous initiation;
Note=Translation N-terminally extended;
5 PDB 3D structures from and Proteopedia for EHMT2:
2O8J (3D)        3DM1 (3D)        3K5K (3D)        3RJW (3D)        4NVQ (3D)    
Secondary accessions: B0UZY2 Q14349 Q5JP83 Q5JQ92 Q5JQA1 Q5JQG3 Q6PK06 Q96MH5 Q96QD0 Q9UQL8
Q9Y331
Alternative splicing: 3 isoforms:  Q96KQ7-1   Q96KQ7-2   Q96KQ7-3   

Explore the universe of human proteins at neXtProt for EHMT2: NX_Q96KQ7

Explore proteomics data for EHMT2 at MOPED

Post-translational modifications: 

  • Methylated at Lys-185; automethylated1
  • Ubiquitination2 at Lys882, Lys1047, Lys1164
  • Modification sites at PhosphoSitePlus

  • See EHMT2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001276342.1  NP_006700.3  NP_079532.5  

    ENSEMBL proteins: 
     ENSP00000379078   ENSP00000364678   ENSP00000364680   ENSP00000364687   ENSP00000412353  
    Reactome Protein details: Q96KQ7

    EHMT2 Human Recombinant Protein Products:

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    Novus Biologicals EHMT2 Lysate
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for EHMT2

    EHMT2 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of EHMT2
    R&D Systems Antibodies for EHMT2 (G9a/EHMT2)
    Cell Signaling Technology (CST) Antibodies for EHMT2 
    OriGene Antibodies for EHMT2
    OriGene Custom Antibody Services for EHMT2
    Novus Biologicals EHMT2 Antibodies
    Abcam antibodies for EHMT2
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    EHMT2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for EHMT2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for EHMT2
    Cloud-Clone Corp. CLIAs for EHMT2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    KMT: Chromatin-modifying enzymes / K-methyltransferases
    ANKRD: Ankyrin repeat domain containing

    Selected InterPro protein domains (see all 6):
     IPR001214 SET_dom
     IPR003616 Post-SET_dom
     IPR020683 Ankyrin_rpt-contain_dom
     IPR003606 Pre-SET_Zn-bd_sub
     IPR007728 Pre-SET_dom

    Graphical View of Domain Structure for InterPro Entry Q96KQ7

    ProtoNet protein and cluster: Q96KQ7

    4 Blocks protein domains:
    IPB001214 Nuclear protein SET
    IPB002110 Ankyrin repeat signature
    IPB003606 Nuclear protein Zn2+-binding
    IPB003616 SET-related region


    UniProtKB/Swiss-Prot: EHMT2_HUMAN, Q96KQ7
    Domain: The SET domain mediates interaction with WIZ
    Domain: The ANK repeats bind H3K9me1 and H3K9me2
    Similarity: Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine
    methyltransferase family. Suvar3-9 subfamily
    Similarity: Contains 7 ANK repeats
    Similarity: Contains 1 post-SET domain
    Similarity: Contains 1 pre-SET domain
    Similarity: Contains 1 SET domain


    EHMT2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: EHMT2_HUMAN, Q96KQ7
    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
    Catalytic activity: S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine +
    N(6)-methyl-L-lysine-[histone]

         Enzyme Numbers (IUBMB): EC 2.1.1.431 EC 2.1.1.-1

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002039p53 binding IPI--
    GO:0005515protein binding IPI16189514
    GO:0008270zinc ion binding IEA--
    GO:0016279protein-lysine N-methyltransferase activity IDA--
    GO:0018024histone-lysine N-methyltransferase activity IMP--
         
    EHMT2 for ontologies           About GeneDecksing


    Phenotypes:
         11 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Ehmt2):
     behavior/neurological  cellular  digestive/alimentary  embryogenesis  endocrine/exocrine gland 
     growth/size/body  hematopoietic system  immune system  mortality/aging  nervous system 
     reproductive system 

    EHMT2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for EHMT2: Ehmt2tm1Yshk Ehmt2tm2.1Yshk

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for EHMT2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for EHMT2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EHMT2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for EHMT2

    miRNA
    Products:
        
    miRTarBase miRNAs that target EHMT2:
    hsa-mir-27b-3p (MIRT046189), hsa-mir-615-3p (MIRT040361), hsa-mir-1 (MIRT001368), hsa-mir-320b (MIRT036236), hsa-mir-17-5p (MIRT051011)

    Block miRNA regulation of human, mouse, rat EHMT2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate EHMT2 (see all 11):
    hsa-miR-3194-5p hsa-miR-206 hsa-miR-185* hsa-miR-330-5p hsa-miR-1 hsa-miR-3918 hsa-miR-4267 hsa-miR-4314
    SwitchGear 3'UTR luciferase reporter plasmidEHMT2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for EHMT2
    Predesigned siRNA for gene silencing in human, mouse, rat EHMT2

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for EHMT2
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    GenScript: all cDNA clones in your preferred vector (see all 2): EHMT2 (NM_006709)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EHMT2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EHMT2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EHMT2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    EHMT2_HUMAN, Q96KQ7: Nucleus. Chromosome. Note=Associates with euchromatic regions. Does not associate with
    heterochromatin
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytoskeleton3
    cytosol2
    mitochondrion1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS--
    GO:0005654nucleoplasm TAS--
    GO:0005694chromosome IEA--

    EHMT2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for EHMT2 About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1Cellular Senescence
    Cellular Senescence0.81
    Senescence-Associated Secretory Phenotype (SASP)0.57
    Cellular responses to stress0.81
    2RNA Polymerase I Promoter Opening
    RNA Polymerase I Transcription0.78
    RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription0.73
    RNA Polymerase I Promoter Clearance0.78
    3RNA Polymerase I Promoter Escape
    RNA Polymerase I Transcription Initiation0.55
    4Gene Expression
    Gene Expression0.40
    5Packaging Of Telomere Ends
    Histone modification0.31

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for EHMT2
        Notch Signaling Pathways


    1 Cell Signaling Technology (CST) Pathway for EHMT2
        Chromatin Regulation / Acetylation

    1 BioSystems Pathway for EHMT2
        Regulation of Androgen receptor activity

    2 Reactome Pathways for EHMT2
        Senescence-Associated Secretory Phenotype (SASP)
    RNA Polymerase I Transcription Initiation


    1 Kegg Pathway  (Kegg details for EHMT2):
        Lysine degradation


    EHMT2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including EHMT2: 
              Epigenetic Chromatin Modification Enzymes in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for EHMT2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for EHMT2 (Q96KQ71, 2, 3 ENSP000003646874) via UniProtKB, MINT, STRING, and/or I2D (see all 111)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H3AP684313I2D: score=1 
    HIST1H3BP684313I2D: score=1 
    HIST1H3CP684313I2D: score=1 
    HIST1H3DP684313I2D: score=1 
    HIST1H3EP684313I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0006275regulation of DNA replication IMP--
    GO:0006306DNA methylation ISS--
    GO:0006357regulation of transcription from RNA polymerase II promoter ----
    GO:0007130synaptonemal complex assembly IEA--

    EHMT2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for EHMT2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    UNC 0638Selective G9a and GLP histone lysine methyltransferase inhibitor[1255517-77-1]
    BIX 01294G9a-like protein and G9a histone lysine methyltransferase inhibitor[935693-62-2]
    SGC 0946Highly potent and selective DOT1L inhibitor; cell permeable--
    3-Deazaneplanocin A hydrochlorideHistone methyltransferase inhibitor[120964-45-6]
    UNC 0646Potent and selective G9a/GLP inhibitor[1320288-17-2]

    3 HMDB Compounds for EHMT2    About this table
    CompoundSynonyms CAS #PubMed Ids
    L-Lysine(+)-S-Lysine (see all 25)56-87-1--
    S-Adenosylhomocysteine(S)-5'-(S)-(3-Amino-3-carboxypropyl)-5'-thioadenosine (see all 19)979-92-0--
    S-Adenosylmethionine(3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine (see all 16)29908-03-0--

    1 Novoseek inferred chemical compound relationship for EHMT2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lysine 59.1 9 11316813 (3), 18647749 (1), 20118233 (1), 15269344 (1) (see all 5)



    EHMT2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

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    REFSEQ mRNAs for EHMT2 gene (3 alternative transcripts): 
    NM_001289413.1  NM_006709.4  NM_025256.6  

    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000478491 ENST00000461880 ENST00000494816(uc003nxx.1) ENST00000480912(uc003nxy.1)
    ENST00000395728 ENST00000375528(uc011don.1) ENST00000375530 ENST00000375537(uc003nxz.1 uc003nya.1)
    ENST00000436026 ENST00000477678 ENST00000463484 ENST00000465429(uc003nyb.1)

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    Selected qRT-PCR Assays for microRNAs that regulate EHMT2 (see all 11):
    hsa-miR-3194-5p hsa-miR-206 hsa-miR-185* hsa-miR-330-5p hsa-miR-1 hsa-miR-3918 hsa-miR-4267 hsa-miR-4314
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    GenScript: all cDNA clones in your preferred vector (see all 2): EHMT2 (NM_006709)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EHMT2
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat EHMT2
      QuantiFast Probe-based Assays in human, mouse, rat EHMT2

    Selected AceView cDNA sequences (see all 332):

    BM478017 BU158595 BM699996 BQ070714 BC002686 BM793458 BQ420395 BQ711011 
    CR606801 BM769841 BU156778 BM727234 BQ960930 AA677017 AI380588 CA388837 
    CB850917 BF725830 CR624754 AW881174 BX386669 BM980451 AA566004 AW627708 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    EHMT2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTGGGGGTG
    EHMT2 Expression
    About this image


    EHMT2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon
     
     Eye (Sensory Organs)
             Lens
    EHMT2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EHMT2 Protein Expression

    UniProtKB/Swiss-Prot: EHMT2_HUMAN, Q96KQ7
    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

        Pathway & Disease-focused RT2 Profiler PCR Array including EHMT2: 
              Epigenetic Chromatin Modification Enzymes in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for EHMT2 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ehmt21 , 5 euchromatic histone lysine N-methyltransferase 21, 5 88.03(n)1
    95.61(a)1
      17 (18.45 cM)5
    1101471  NM_145830.21  NP_665829.11 
     348984695 
    lizard
    (Anolis carolinensis)
    Reptilia EHMT26
    euchromatic histone-lysine N-methyltransferase 2
    70(a)
    1 ↔ 1
    2(194389053-194444873)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.75682 Xenopus laevis transcribed sequence with moderate similarity more 77.97(n)    BX854837.1 
    zebrafish
    (Danio rerio)
    Actinopterygii bat82 HLA-B-associated transcript 8 79.7(n)   83911  AI497334.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta G9a6
    G9a
    20(a)
    1 → many
    X(140011-148683)


    ENSEMBL Gene Tree for EHMT2 (if available)
    TreeFam Gene Tree for EHMT2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for EHMT2 gene
    NSD12  ASH1L2  WHSC12  WHSC1L12  SUV39H22  SETBP12  SETDB22  SUV39H12  
    SETD22  EHMT12  SETMAR2  SETDB12  
    7 SIMAP similar genes for EHMT2 using alignment to 4 protein entries:     EHMT2_HUMAN (see all proteins):
    FP13812    SUV39H2    EHMT1    IkBa    PSMD10    DKFZp761E1322
    MTPN

    EHMT2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for EHMT2 (see all 376)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1505844421,2
    --31849219(+) GCCAGA/GACTGC 2 -- int10--------
    rs283869791,2
    C--31849262(+) ACTCAA/GGGCAT 2 -- int10--------
    rs1907944711,2
    --31849293(+) ACACAC/TATCTG 2 -- int10--------
    rs1396037461,2
    --31849432(+) AAGGCC/TGATTT 2 -- int10--------
    rs1497775731,2
    C--31849627(+) TGTAAC/TCCCAG 2 -- int10--------
    rs1922543751,2
    --31849908(+) AAAAAA/GAAAAG 2 -- int10--------
    rs1838840491,2
    --31850032(+) GAGGTA/GGACAG 2 -- int10--------
    rs1156463811,2
    C,F--31850070(+) ACAGAC/TAAGAA 2 -- int12Minor allele frequency- T:0.06NA EA 240
    rs737289881,2
    C--31850196(+) AGGAGG/CGGGTG 2 -- int11Minor allele frequency- C:0.50WA 2
    rs728424281,2
    --31850210(+) GGGAAC/GGTAGA 2 -- int10--------

    HapMap Linkage Disequilibrium report for EHMT2 (31847536 - 31865464 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for EHMT2 (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv509126CNV Insertion20534489
    dgv6583n71CNV Loss21882294
    dgv6598n71CNV Loss21882294
    dgv6595n71CNV Loss21882294
    dgv6597n71CNV Loss21882294
    dgv6596n71CNV Loss21882294
    nsv884472CNV Loss21882294
    nsv508399CNV Loss20534489
    dgv6600n71CNV Loss21882294
    nsv884486CNV Loss21882294

    Human Gene Mutation Database (HGMD): EHMT2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing EHMT2
    DNA2.0 Custom Variant and Variant Library Synthesis for EHMT2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604599    OMIM disorders: --

    Selected diseases for EHMT2 (see all 27):    
    About MalaCards
    cockayne syndrome    sporadic breast cancer    idiopathic pulmonary fibrosis    pulmonary fibrosis
    prader-willi syndrome    vaccinia    oligodendroglioma    brain cancer
    labyrinthitis    systemic lupus erythematosus    ataxia    mental retardation
    lupus erythematosus    astrocytoma    esophagitis    breast cancer
    multiple sclerosis    colorectal cancer    adenocarcinoma    hepatocellular carcinoma


    EHMT2 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for EHMT2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cancer 0.271 6 20118233 (2), 19531572 (1)
    tumors 0 4 16799634 (1), 20118233 (1), 14534136 (1)

    Genetic Association Database (GAD): EHMT2
    Human Genome Epidemiology (HuGE) Navigator: EHMT2 (8 documents)

    Export disorders for EHMT2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for EHMT2 gene, integrated from 10 sources (see all 169):
    (articles sorted by number of sources associating them with EHMT2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The G9a gene in the human major histocompatibility complex encodes a novel protein containing ankyrin-like repeats. (PubMed id 8457211)1, 2, 3, 9 Milner C.M. and Campbell R.D. (Biochem. J. 1993)
    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. (PubMed id 11316813)1, 2, 3, 9 Tachibana M.... Shinkai Y. (J. Biol. Chem. 2001)
    3. Novel NG36/G9a gene products encoded within the human and mouse MHC class III regions. (PubMed id 11707778)1, 2, 9 Brown S.E.... Sanderson C.M. (Mamm. Genome 2001)
    4. G9a and Glp methylate lysine 373 in the tumor suppressor p53. (PubMed id 20118233)1, 2, 9 Huang J.... Berger S.L. (J. Biol. Chem. 2010)
    5. UHRF1 binds G9a and participates in p21 transcriptional regulation in mammalian cells. (PubMed id 19056828)1, 2, 9 Kim J.K.... Pradhan S. (Nucleic Acids Res. 2009)
    6. Histone H3 lysine 56 methylation regulates DNA replication through its interaction with PCNA. (PubMed id 22387026)1, 2 Yu Y.... Grunstein M. (Mol. Cell 2012)
    7. Maintenance of silent chromatin through replication requires SWI/SNF- like chromatin remodeler SMARCAD1. (PubMed id 21549307)1, 2 Rowbotham S.P.... Mermoud J.E. (Mol. Cell 2011)
    8. Family-based analysis of genetic variation underlying psychosis-inducing effects of cannabis: sibling analysis and proband follow-up. (PubMed id 21041608)1, 4 van Winkel R. (Arch. Gen. Psychiatry 2011)
    9. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)1, 4 Liu C.Y....Christiani D.C. (Carcinogenesis 2010)
    10. Structural biology of human H3K9 methyltransferases. (PubMed id 20084102)1, 2 Wu H.... Schapira M. (PLoS ONE 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10919 HGNC: 14129 AceView: BAT8 Ensembl:ENSG00000204371 euGenes: HUgn10919
    ECgene: EHMT2 Kegg: 10919 H-InvDB: EHMT2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for EHMT2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for EHMT2 gene:
    Search GeneIP for patents involving EHMT2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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