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L3MBTL2 Gene

protein-coding   GIFtS: 53

GC22P039925
l(3)mbt-like 2 (Drosophila)
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
DKFZP761I141 1
H-l(3)mbt-l 1, 2
L3MBT 2, 5
OTTHUMP00000028919 2
dJ756G23.3 1
Descriptions
H-l(3)mbt-like protein 2, 3
L(3)mbt-like 2 protein 3
l(3)mbt-like 2 2
l(3)mbt-like 2 (Drosophila) 2
External Ids
HGNC: 185941
Entrez Gene: 837462
UniProtKB: Q969R53
Ensembl: ENSG000001003957
Search outside databases for aliases for L3MBTL2 gene

Previous GC identifers: GC22P038215 GC22P039844

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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UniProtKB/Swiss-Prot: LMBL2_HUMAN, Q969R5
Function: Putative Polycomb group (PcG) protein. PcG proteins maintain the transcriptionally
repressive state of genes, probably via a modification of chromatin, rendering it heritably
changed in its expressibility. Its association with a chromatin-remodeling complex suggests that
it may contribute to prevent expression of genes that trigger the cell into mitosis

Gene Wiki entry for L3MBTL2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the L3MBTL2 gene  

Entrez Gene cytogenetic band: 22q13.31-q13.33   Ensembl cytogenetic band:  22q13.2   HGNC cytogenetic band: 22q13.31-q13.33

L3MBTL2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P039925:     (about GC identifiers)

Start:
39,931,259 bp from pter
End:
39,957,221 bp from pter
Size:
25,963 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000022.9  NT_011520.11  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: LMBL2_HUMAN, Q969R5 (See protein sequence)
Recommended Name: Lethal(3)malignant brain tumor-like 2 protein  
Size: 705 amino acids; 79110 Da
Subunit: Part of the E2F6.com-1 complex in G0 phase composed of E2F6, MGA, MAX, TFDP1, CBX3, BAT8,
EUHMTASE1, RING1, RNF2, MBLR, BAT8 and YAF2
Subcellular location: Nucleus (Probable)
Sequence caution: Sequence=BAB84917.1; Type=Miscellaneous discrepancy; Note=Intron retention;
Sequence=BAC04936.1; Type=Miscellaneous discrepancy; Note=Intron retention;
PDB structures from and Proteopedia :
2W0T (3D)    3CEY (3D)    3F70 (3D)    
Secondary accessions: Q8TEN1 Q96SC4 Q9BQI2 Q9UGS4
Alternative splicing: 3 isoforms:  Q969R5-1   Q969R5-2   Q969R5-3   

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_113676.2  

    ENSEMBL proteins: 
    ENSP00000216237 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (L3MBTL2)
    Human Recombinant Proteins from Abnova (L3MBTL2)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    2 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus NAS--
    GO:0005737 cytoplasm IDA18029348
    About this table

    Antibodies for L3MBTL2: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for L3MBTL2
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (L3MBTL2), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (L3MBTL2)
    Novus Biologicals Antibodies for L3MBTL2

    Assays for L3MBTL2: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    2 InterPro domains/families:
     IPR004092 Mbt
     IPR012313 Znf_FCS


       GeneDecks  L3MBTL2 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q969R5

    ProtoNet protein and cluster: Q969R5

    UniProtKB/Swiss-Prot: LMBL2_HUMAN, Q969R5
    Similarity: Contains 1 FCS-type zinc finger
    Similarity: Contains 4 MBT repeats

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (L3MBTL2)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (L3MBTL2)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_031488

                  Applied Biosystems Silencer® siRNAs for L3MBTL2

                  Sigma-Aldrich siRNA for L3MBTL2  
                         Sigma-Aldrich shRNA for L3MBTL2  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_031488
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_031488
                                     untagged cDNA clones in CMV expression vector (see all 3): NM_001003689 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_031488

    UniProtKB/Swiss-Prot: LMBL2_HUMAN, Q969R5
    Function: Putative Polycomb group (PcG) protein. PcG proteins maintain the transcriptionally
    repressive state of genes, probably via a modification of chromatin, rendering it heritably
    changed in its expressibility. Its association with a chromatin-remodeling complex suggests that
    it may contribute to prevent expression of genes that trigger the cell into mitosis

    3 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003714 transcription corepressor activity NAS--
    GO:0008270 zinc ion binding IEA--
    GO:0046872 metal ion binding IEA--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section



    2 Interacting proteins for L3MBTL2 (Q969R52) via UniProtKB, MINT, and/or STRING
    InteractantInteraction Details
    GeneCardExternal ID(s)
    STAM2O758862MINT-67569
    --Q53HG82MINT-66127
    About this table

    2 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355 regulation of transcription, DNA-dependent IEA--
    GO:0016568 chromatin modification NAS--
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for L3MBTL2

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (L3MBTL2)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (L3MBTL2)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_031488

                  Sigma-Aldrich siRNA for L3MBTL2  
                         Sigma-Aldrich shRNA for L3MBTL2  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_031488  

    REFSEQ mRNAs for L3MBTL2 gene: 

    NM_031488.4   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_031488  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_031488
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_031488
                                     untagged cDNA clones in CMV expression vector (see all 3): NM_001003689 

    Additional cDNA sequence: 

    AJ305226.1 AK056443.1 AK057177.1 AK097052.1 AK307763.1 AL136564.1 BC017191.2 BC102006.1 
    BC103626.1 CR456482.1 CR594826.1 

    14 DOTS entries:

    DT.92430829  DT.91888833  DT.100822812  DT.424974  DT.100028061  DT.100829578  DT.100028062  DT.100822815 
    DT.95218869  DT.95218874  DT.100831188  DT.100652993  DT.100653666  DT.120647809 

    13 AceView cDNA sequences:

    AW410406 N63530 BQ437709 BU838420 AI351341 BF307973 AK057177 N94850 
    AW410405 BG002228 N95732 BI038667 AA355743 

    highest scoring ESTs for L3MBTL2:

    AA026761 AA233695 AA280121 AA281766 AA351589 AA351643 AA353188 AA356192 AA630686 AA634292 

    Unigene Cluster for L3MBTL2:

    L(3)mbt-like 2 (Drosophila)
    Hs.517641  [show with all ESTs]
    Unigene Representative Sequence: BC017191


    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for L3MBTL2 (see all 8 )

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^
    SP1:                                -     -           -     -                                                     -                                             
    SP2:                                -     -           -     -     -                                                                                             
    SP3:                                      -           -     -     -                                                                                             
    SP4:                                -     -           -     -     -                             -                                                               
    SP5:                                                  -     -     -     -                                                                                       

    ExUns: 17a · 17b
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            

    About this scheme

    ECgene alternative splicing isoforms for L3MBTL2

    1 Ensembl transcript including schematic representation:
    ENST00000216237  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    L3MBTL2 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for L3MBTL2

    1 / 2 / 3

    5 probe-sets matching L3MBTL2 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    64452_at2, 3 U95-C 1 0.94 1.00 -0.05 1.09 AI985709 0.80 1.00 0.91 1

    72100_at2, 3 U95-E 1 0.88 1.00 0.90 0.91 AI351341 0.80 1.00 0.91 1

    223205_s_at2, 3 U133-B 1 1.00 1.00 -- -- AI985709 0.80 1.00 0.91 1

    223205_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    1555815_a_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: CCTGGAGGGG

    SOURCE GeneReport for Unigene cluster: Hs.517641
    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for L3MBTL2 gene from 5/10 species (see all 10 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    L3MBTL21   -- l(3)mbt-like 2 (Drosophila) 91.73(n)
    96.03(a)
    481235  XM_538356.2  XP_538356.2 
    chimpanzee
    (Pan troglodytes)
    L3MBTL21   -- l(3)mbt-like 2 (Drosophila) 99.67(n)
    99.72(a)
    458863  XM_001168767.1  XP_001168767.1 
    cow
    (Bos taurus)
    L3MBTL21   -- l(3)mbt-like 2 (Drosophila) 90.21(n)
    95.74(a)
    513297  NM_001075610.1  NP_001069078.1 
    rat
    (Rattus norvegicus)
    L3mbtl21   -- l(3)mbt-like 2 (Drosophila) 87.75(n)
    92.02(a)
    300320  NM_001033695.1  NP_001028867.1 
    mouse
    (Mus musculus)
    L3mbtl21, 5 155
    l(3)mbt-like 2 (Drosophila)1, 5 87.39(n)1
    91.18(a)1
    2146691  NM_145993.31  NP_666105.21 
     AA0526395  AI8518445  (see all 28)
    About this table        Species with no ortholog for L3MBTL2

    ENSEMBL Gene Tree for L3MBTL2
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for L3MBTL2 gene
    MBTD12  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/223 NCBI SNPs in L3MBTL2 are shown (see all 223 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 92)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 22 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs37211,2
    A,C,F,H,O39957019(+) TCTGAC/TTGGAG 1 -- ut31 ese38Minor allele frequency- T:0.29MN EA EU WA 2242
    rs1394861,2
    A,C,F,H,O39957600(+) TTGCTC/GAATCC 1 -- ng3111Minor allele frequency- G:0.30NA EU EA WA 920
    rs1394851,2
    A,C,F,H,O39957552(+) GGTCAG/ACTTGA 1 -- ng319Minor allele frequency- A:0.29EU EA WA NA 808
    rs1394841,2
    A,C,F,H39957489(+) TAAAGT/GTGGCT 1 -- ng314Minor allele frequency- G:0.30EU EA WA 416
    rs1394801,2
    A,C,F,H39956609(+) ACGAGT/CCATGT 1 -- ut31 ese314Minor allele frequency- C:0.33NS MN EU EA WA NA 1112
    rs57510691,2
    A,C,F,H39957721(+) TGCCTC/GAGGAC 1 -- ng319Minor allele frequency- G:0.35EU EA WA NA 742
    rs1394831,2
    A,C,F,H39957473(+) CTGGCG/ATAGGC 1 -- ng314Minor allele frequency- A:0.36EU EA WA 420
    rs38040971,2
    C,F,H39931331(+) GGAGTA/GTTGAG 1 I/V mis1 ese312Minor allele frequency- G:0.01EU EA WA 1256
    rs22778461,2
    C,F,H39947193(+) TGAAAC/TGGCTG 1 R/W mis1 ese39Minor allele frequency- T:0.00EA EU WA 2340
    rs170023621,2
    F,H39956494(+) TGCCTG/CCTCTT 1 -- ut317Minor allele frequency- C:0.01NA EU EA WA 558
    About this table

    HapMap Linkage Disequilibrium images for L3MBTL2 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 611865

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/15 PubMed articles for L3MBTL2 gene (see all 15 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    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, and/or H-InvDB)
    About This Section

    Entrez Gene: 83746 HGNC: 18594 AceView: L3MBTL2.1 Ensembl:ENSG00000100395 euGenes: HUgn83746
    ECgene: L3MBTL2 H-InvDB: L3MBTL2
    (According to HUGE)
    About This Section

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

      --
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for L3MBTL2:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Predesigned and custom siRNAs for L3MBTL2 Antibodies for L3MBTL2
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