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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

EHMT2 Gene

protein-coding   GIFtS: 63
GCID: GC06M031847

Euchromatic Histone-Lysine N-Methyltransferase 2

(Previous names: chromosome 6 open reading frame 30, HLA-B associated transcript...)
(Previous symbols: C6orf30, BAT8)
Microbiology & Infectious Diseases Congress
  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)
About This Section

Aliases
Euchromatic Histone-Lysine N-Methyltransferase 21 2 3     H3-K9-HMTase 32 3
BAT81 2 3     HLA-B-Associated Transcript 82 3
C6orf301 2 3     Chromosome 6 Open Reading Frame 301
HLA-B Associated Transcript 81 2     GAT82
Histone H3-K9 Methyltransferase 32 3     Ankyrin Repeat-Containing Protein2
Lysine N-Methyltransferase 1C2 3     G9A Histone Methyltransferase2
Protein G9a2 3     Histone-Lysine N-Methyltransferase EHMT22
G9A2 3     Histone-Lysine N-Methyltransferase, H3 Lysine-9 Specific 32
KMT1C2 3     EC 2.1.1.-3
NG362 3     EC 2.1.1.433

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for EHMT2 Gene:
A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for TNF alpha and TNF beta. This
gene is found near this cluster; it was mapped near the gene for C2 within a 120-kb region that included a HSP70
gene pair. These genes are all within the human major histocompatibility complex class III region. This gene was
thought to be two different genes, NG36 and G9a, adjacent to each other but a recent publication shows that there
is only a single gene. The protein encoded by this gene is thought to be involved in intracellular
protein-protein interaction. There are three alternatively spliced transcript variants of this gene but only two
are fully described. (provided by RefSeq, Jul 2008)

GeneCards Summary for EHMT2 Gene: 
EHMT2 (euchromatic histone-lysine N-methyltransferase 2) is a protein-coding gene. Diseases associated with EHMT2 include idiopathic pulmonary fibrosis, and sporadic breast cancer, and among its related super-pathways are Signal transduction Activin A signaling regulation. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NT_007592.15  NT_113891.2  NT_167244.1  NT_167245.1  NT_167247.1  NT_167248.1  NC_018917.2  
NT_167249.1  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for EHMT2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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_167244 3,162,290-3,180,225      Chr6-,NT_167249 3,180,279-3,190,124      Chr6-,NT_113891.2 3,357,290-3,375,218     
Chr6-,NT_167247 3,227,409-3,245,344      Chr6-,NT_167245 3,133,118-3,151,046      Chr6-,NT_167248 3,141,328-3,159,255     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Nucleus. Chromosome. Note=Associates with euchromatic regions. Does not associate with
heterochromatin
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;
4 PDB 3D structures from and Proteopedia for EHMT2:
2O8J (3D)        3DM1 (3D)        3K5K (3D)        3RJW (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:

  • UniProtKB: Methylated at Lys-185; automethylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96KQ7

  • EHMT2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    EHMT2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_006700.3  NP_079532.5  

    ENSEMBL proteins: 
     ENSP00000379078   ENSP00000364678   ENSP00000364680   ENSP00000364687   ENSP00000412353  

    Human Recombinant Protein Products for EHMT2: 
    EMD Millipore Purified and/or Recombinant EHMT2 Protein
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    Novus Biologicals EHMT2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for EHMT2 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    EHMT2 for ontologies           About GeneDecksing



    EHMT2 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of EHMT2
    R&D Systems Antibodies for EHMT2 (G9a/EHMT2)
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    Abcam antibodies for EHMT2
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    ThermoFisher Antibodies for EHMT2
    LSBio Antibodies in human, mouse, rat for EHMT2 

    Assay Products for EHMT2: 
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    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)
    About This Section
    HGNC Gene Families: 
    KMT: Chromatin-modifying enzymes / K-methyltransferases
    ANKRD: Ankyrin repeat domain containing

    5/6 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    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  homeostasis/metabolism  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 - Custom generated mouse model solutions for EHMT2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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-1 (MIRT001368)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EHMT2
    8/11 QIAGEN miScript miRNA 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:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    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


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for EHMT2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Signal transduction Activin A signaling regulation
    Histone modification0.31
    2Regulation of Androgen receptor activity
    Regulation of Androgen receptor activity
    3Notch Signaling Pathways
    Notch Signaling Pathways
    4Lysine degradation
    Lysine degradation
    5Chromatin Regulation / Acetylation
    Chromatin Regulation / Acetylation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for EHMT2
        Histone modification

    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


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


    EHMT2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for EHMT2

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

    5/101 Interacting proteins for EHMT2 (Q96KQ71, 2, 3 ENSP000003646874) via UniProtKB, MINT, STRING, and/or I2D (see all 101)
    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): 5/15 biological process terms (GO ID links to tree view) (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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    EHMT2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about EHMT2

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for EHMT2 gene (2 alternative transcripts): 
    NM_006709.3  NM_025256.5  

    Unigene Cluster for EHMT2:

    Euchromatic histone-lysine N-methyltransferase 2
    Hs.709218  [show with all ESTs]
    Unigene Representative Sequence: AB209433
    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)

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    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
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EHMT2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EHMT2
    Sirion Biotech Customized lentivirus for stable overexpression of EHMT2 
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    Additional mRNA sequence: 

    AB209433.2 AJ315532.1 AK302904.1 BC002686.1 BC009351.1 BC018718.1 BC020970.1 X69838.1 

    17 DOTS entries:

    DT.445503  DT.102841782  DT.95331384  DT.91779944  DT.100788894  DT.121318949  DT.100788886  DT.91779993 
    DT.95331377  DT.95331392  DT.100788888  DT.100788892  DT.70102212  DT.100788896  DT.40115699  DT.95131925 
    DT.95331421 

    24/332 AceView cDNA sequences (see all 332):

    BM478017 AW627708 BQ677974 BQ650353 CR606801 NM_025256 D20365 AA219452 
    BM456765 BQ070714 AA693954 BU507178 BQ053929 BM727234 BM678232 AI198369 
    BX386669 CA444885 AA677017 BQ952295 AI131487 BM669954 CD245439 BU146101 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    EHMT2 expression in normal human tissues (normalized intensities)      EHMT2 embryonic expression: see
    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 
     5/9 selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Thalamus
             superior temporal gyrus   
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             heart/atrium   
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/nasal cavity   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon
     
     Eye (Sensory Organs)
             Retina

    See EHMT2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EHMT2

    SOURCE GeneReport for Unigene cluster: Hs.709218

    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

        SABiosciences Expression via Pathway-Focused 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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for EHMT2 gene from 5/14 species (see all 14)    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 88.06(n)1
    95.55(a)1
      17 (18.45 cM)5
    1101471  NM_145830.11  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
    18(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)
    About This Section
    Paralogs for EHMT2 gene
    NSD12  EZH12  ASH1L2  WHSC12  WHSC1L12  SUV39H22  SETBP12  SUV39H12  
    SETD22  EHMT12  EZH22  
    7 SIMAP similar genes for EHMT2 using alignment to 9 protein entries:     EHMT2_HUMAN (see all proteins):
    FP13812    EHMT1    SUV39H2    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/376 SNPs in EHMT2 are shown (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
    ----------
    VAR_0279744
    ----see VAR_0279742 Y F mis40--------
    VAR_0279734
    ----see VAR_0279732 T N mis40--------
    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

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

    Structural Variations
         Database of Genomic Variants (DGV) 10/13 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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604599    OMIM disorders: --

    20 diseases for EHMT2:    About MalaCards
    idiopathic pulmonary fibrosis    sporadic breast cancer    vaccinia    pulmonary fibrosis
    prader-willi syndrome    esophageal adenocarcinoma    macular degeneration    systemic lupus erythematosus
    ataxia    mental retardation    lupus erythematosus    breast cancer
    gastric cancer    colorectal cancer    esophagitis    hepatocellular carcinoma
    adenocarcinoma    hepatitis    neuronitis    leukemia


    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)
    About This Section

    PubMed articles for EHMT2 gene, integrated from 9 sources (see all 159):
    (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. (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. (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. (2001)
    4. G9a and Glp methylate lysine 373 in the tumor suppres sor p53. (PubMed id 20118233)1, 2, 9 Huang J....Berger S.L. (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. (2009)
    6. Histone H3 lysine 56 methylation regulates DNA replication through its interaction wwith PCNA. (PubMed id 22387026)1, 2 Yu Y.... Grunstein M. (2012)
    7. Maintenance of silent chromatin through replication r equires SWI/SNF-like chromatin remodeler SMARCAD1. (PubMed id 21549307)1, 2 Rowbotham S.P....Mermoud J.E. (2011)
    8. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)1, 4 Liu C.Y....Christiani D.C. (2010)
    9. Structural biology of human H3K9 methyltransferases. (PubMed id 20084102)1, 2 Wu H....Schapira M. (2010)
    10. 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. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 10919 HGNC: 14129 AceView: BAT8 Ensembl:ENSG00000204371 euGenes: HUgn10919
    ECgene: EHMT2 Kegg: 10919 H-InvDB: EHMT2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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



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    About This Section

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