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

SETMAR Gene

protein-coding   GIFtS: 60
GCID: GC03P004344

SET Domain And Mariner Transposase Fusion Gene

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
SET Domain And Mariner Transposase Fusion Gene1 2     Mar12
HsMar12 3     Histone-Lysine N-Methyltransferase SETMAR2
SET Domain And Mariner Transposase Fusion Gene-Containing Protein2 3     Metnase3
METNASE2 5     EC 2.1.1.438

External Ids:    HGNC: 107621   Entrez Gene: 64192   Ensembl: ENSG000001703647   OMIM: 6098345   UniProtKB: Q53H473   

Export aliases for SETMAR gene to outside databases

Previous GC identifers: GC03P004273 GC03P004336 GC03P004320


(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 SETMAR Gene:
This gene encodes a fusion protein that contains an N-terminal histone-lysine N-methyltransferase domain and a
C-terminal mariner transposase domain. The encoded protein binds DNA and functions in DNA repair activities
including non-homologous end joining and double strand break repair. The SET domain portion of this protein
specifically methylates histone H3 lysines 4 and 36. This gene exists as a fusion gene only in anthropoid
primates, other organisms lack mariner transposase domain. Alternate splicing results in multiple transcript
variants. (provided by RefSeq, Jan 2013)

GeneCards Summary for SETMAR Gene: 
SETMAR (SET domain and mariner transposase fusion gene) is a protein-coding gene. Diseases associated with SETMAR include mantle cell lymphoma, and situs inversus. GO annotations related to this gene include protein homodimerization activity and histone-lysine N-methyltransferase activity.

UniProtKB/Swiss-Prot: SETMR_HUMAN, Q53H47
Function: Histone methyltransferase that methylates 'Lys-4' and 'Lys-36' of histone H3, 2 specific tags for
epigenetic transcriptional activation. Specifically mediates dimethylation of H3 'Lys-36'. Has sequence-specific
DNA-binding activity and recognizes the 19-mer core of the 5'-terminal inverted repeats (TIRs) of the Hsmar1
element. Has DNA nicking activity. Has in vivo end joining activity and may mediate genomic integration of
foreign DNA

Gene Wiki entry for SETMAR 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_000003.11  NC_018914.2  NT_022517.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SETMAR gene promoter:
         TBP   LHX3b/Lhx3b   MyoD   LHX3a/Lhx3a   AP-4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSETMAR promoter sequence
   Search SABiosciences Chromatin IP Primers for SETMAR

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SETMAR


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

Entrez Gene cytogenetic band: 3p26.1   Ensembl cytogenetic band:  3p26.1   HGNC cytogenetic band: 3p26.2

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

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P004344:  view genomic region     (about GC identifiers)

Start:
4,344,988 bp from pter      End:
4,359,251 bp from pter
Size:
14,264 bases      Orientation:
plus strand

(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: SETMR_HUMAN, Q53H47 (See protein sequence)
Recommended Name: Histone-lysine N-methyltransferase SETMAR  
Size: 671 amino acids; 76669 Da
Cofactor: Binds 1 magnesium ion per subunit
Subcellular location: Nucleus (Probable). Chromosome (Probable)
Miscellaneous: The mariner transposase region in only present in primates and appeared 40-58 million years ago,
after the insertion of a transposon downstream of a preexisting SET gene, followed by the de novo exonization of
previously non-coding sequence and the creation of a new intron
4 PDB 3D structures from and Proteopedia for SETMAR:
3BO5 (3D)        3F2K (3D)        3K9J (3D)        3K9K (3D)    
Secondary accessions: Q13579 Q1G668 Q96F41
Alternative splicing: 2 isoforms:  Q53H47-1   Q53H47-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SETMAR: NX_Q53H47

Explore proteomics data for SETMAR at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q53H47

  • 2 DME Specific Peptides for SETMAR (Q53H47)
     NHSCEPN  PFQYTPDHV 

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

    SETMAR Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001230652.1  NP_001263254.1  NP_006506.3  

    ENSEMBL proteins: 
     ENSP00000373354   ENSP00000393044   ENSP00000397463   ENSP00000403000   ENSP00000403145  
     ENSP00000369673  

    Human Recombinant Protein Products for SETMAR: 
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    OriGene Protein Over-expression Lysate for SETMAR
    OriGene MassSpec for SETMAR 
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    Novus Biologicals SETMAR Protein
    Novus Biologicals SETMAR Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SETMAR 

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

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

    SETMAR for ontologies           About GeneDecksing



    SETMAR Antibody Products: 
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    Cloud-Clone Corp. Antibodies for SETMAR 
    ThermoFisher Antibodies for SETMAR
    LSBio Antibodies in human, mouse, rat for SETMAR 

    Assay Products for SETMAR: 
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SETMAR 
    Cloud-Clone Corp. CLIAs for SETMAR


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/6 InterPro protein domains (see all 6):
     IPR001214 SET_dom
     IPR001888 Transposase_1
     IPR002492 Transposase_Tc1-like
     IPR003616 Post-SET_dom
     IPR003606 Pre-SET_Zn-bd_sub

    Graphical View of Domain Structure for InterPro Entry Q53H47

    ProtoNet protein and cluster: Q53H47

    2 Blocks protein domains:
    IPB001214 Nuclear protein SET
    IPB003616 SET-related region


    UniProtKB/Swiss-Prot: SETMR_HUMAN, Q53H47
    Domain: The mariner transposase Hsmar1 region mediates DNA-binding. It has no transposase activity because the
    active site contains an Asn in position 610 instead of a Asp residue
    Similarity: In the N-terminal section; belongs to the class V-like SAM-binding methyltransferase superfamily
    Similarity: In the C-terminal section; belongs to the mariner transposase family
    Similarity: Contains 1 post-SET domain
    Similarity: Contains 1 pre-SET domain
    Similarity: Contains 1 SET domain


    SETMAR 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: SETMR_HUMAN, Q53H47
    Function: Histone methyltransferase that methylates 'Lys-4' and 'Lys-36' of histone H3, 2 specific tags for
    epigenetic transcriptional activation. Specifically mediates dimethylation of H3 'Lys-36'. Has sequence-specific
    DNA-binding activity and recognizes the 19-mer core of the 5'-terminal inverted repeats (TIRs) of the Hsmar1
    element. Has DNA nicking activity. Has in vivo end joining activity and may mediate genomic integration of
    foreign DNA
    Catalytic activity: S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine +
    N(6)-methyl-L-lysine-[histone]

         Enzyme Number (IUBMB): EC 2.1.1.432

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0004519endonuclease activity IDA--
    GO:0004803transposase activity TAS--
    GO:0005515protein binding IPI19390626
    GO:0008270zinc ion binding IEA--
         
    SETMAR for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for SETMAR:
     Decreased viability of wild-ty  G0/1 arrest  Increased G1 DNA content  Synthetic lethal with imatinib 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SETMAR 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SETMAR

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

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                         Customized lentivirus expression plasmids for stable overexpression of SETMAR 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SETMAR


    (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 SETMAR About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Lysine degradation
    Lysine degradation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




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


    SETMAR for pathways           About GeneDecksing

    Interactions:

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

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/9 Interacting proteins for SETMAR (Q53H473 ENSP000003733544) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PCNAP120043, ENSP000003684384I2D: score=1 STRING: ENSP00000368438
    RAD9AQ996383, ENSP000003113604I2D: score=1 STRING: ENSP00000311360
    TOP2AP113883, ENSP000004115324I2D: score=1 STRING: ENSP00000411532
    PRPF19Q9UMS43, ENSP000002275244I2D: score=1 STRING: ENSP00000227524
    XRCC4Q134263, ENSP000003420114I2D: score=1 STRING: ENSP00000342011
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000729DNA double-strand break processing IDA--
    GO:0000737DNA catabolic process, endonucleolytic IDA--
    GO:0006313transposition, DNA-mediated TAS9461395
    GO:0015074DNA integration IEA--
    GO:0034968histone lysine methylation ----

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

    Browse Tocris compounds for SETMAR (SETMR)

    2 HMDB Compounds for SETMAR    About this table
    CompoundSynonyms CAS #PubMed Ids
    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--

    Search CenterWatch for drugs/clinical trials and news about SETMAR / SETMR

    (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 SETMAR gene (3 alternative transcripts): 
    NM_001243723.1  NM_001276325.1  NM_006515.3  

    Unigene Cluster for SETMAR:

    SET domain and mariner transposase fusion gene
    Hs.475300  [show with all ESTs]
    Unigene Representative Sequence: AK122967
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000358065(uc011asp.2 uc011asq.2 uc003bpy.4 uc011asr.2 uc010hbx.3)
    ENST00000413809 ENST00000425046 ENST00000430981(uc003bpw.4) ENST00000425863
    ENST00000358950 ENST00000490691 ENST00000462115
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
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    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate SETMAR
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SETMAR
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SETMAR
    Clone
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    OriGene clones in human, mouse for SETMAR (see all 9)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SETMAR (NM_006515)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SETMAR
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SETMAR
    Sirion Biotech Customized lentivirus for stable overexpression of SETMAR 
                         Customized lentivirus expression plasmids for stable overexpression of SETMAR 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for SETMAR
    SABiosciences RT2 qPCR Primer Assay in human, mouse / rat SETMAR
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SETMAR
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SETMAR

    Additional mRNA sequence: 

    AF054989.1 AK122967.1 AK222734.1 AK297865.1 AK302296.1 AK307537.1 AK311418.1 AY952295.1 
    BC008931.2 BC011635.2 NR_024022.1 NR_075073.1 U80776.1 

    9 DOTS entries:

    DT.408364  DT.203631  DT.120874334  DT.91657404  DT.100692925  DT.95078066  DT.102842711  DT.100802930 
    DT.434190 

    24/81 AceView cDNA sequences (see all 81):

    BQ651111 AA234618 BC011635 BP377589 AL515729 CD366647 AW583590 CR600492 
    T16607 BX451998 W93323 BM723028 BC008931 BM677483 AA236558 AF054989 
    BX388110 CD367822 BQ650846 CA313648 BE890511 BU164805 AA972798 BG286864 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for SETMAR (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b · 4c · 4d ^ 5a · 5b · 5c · 5d
    SP1:                    -     -     -                       -                                             
    SP2:                    -     -     -     -     -     -                       -                           
    SP3:                    -     -     -                                         -                           
    SP4:                                -     -     -     -                       -                           
    SP5:                    -     -     -                                                                     


    ECgene alternative splicing isoforms for SETMAR

    (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

    SETMAR expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGCACAACC
    SETMAR Expression
    About this image


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

    SOURCE GeneReport for Unigene cluster: Hs.475300

    UniProtKB/Swiss-Prot: SETMR_HUMAN, Q53H47
    Tissue specificity: Widely expressed, with highest expression in placenta and ovary and lowest expression in
    skeletal muscle

        SABiosciences Custom PCR Arrays for SETMAR
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SETMAR
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SETMAR

    (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 chordates.

    Orthologs for SETMAR gene from 3/5 species (see all 5)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    cow
    (Bos taurus)
    Mammalia SETMAR1 SET domain and mariner transposase fusion gene 90.76(n)
    85.84(a)
      534913  NM_001083726.1  NP_001077195.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 3)
    Uncharacterized protein
    (see all 3)
    38(a)
    30(a)
    (see all 3)
    many → 1
    many → 1
    (see all 3)
    1(91357976-91358421)
    3(179814711-179815847)
    zebrafish
    (Danio rerio)
    Actinopterygii AL919348.12   -- 75.35(n)    AL919348.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SETMAR gene
    3 SIMAP similar genes for SETMAR using alignment to 7 protein entries:     SETMR_HUMAN (see all proteins):
    BCL7C    FP13812    EHMT1

    SETMAR for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SETMAR
    PGOHUM00000247563


    (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

    10/462 SNPs in SETMAR are shown (see all 462)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1499448241,2
    C--4343005(+) CAGCAA/GAAGAG 4 -- us2k10--------
    rs1922995711,2
    --4343008(+) CAAAAC/GAGACC 4 -- us2k10--------
    rs738069911,2
    C,F--4343117(+) AAATAT/CAATAA 4 -- us2k13Minor allele frequency- C:0.21WA CSA 121
    rs1441386561,2
    --4343156(+) AGCAGC/TGGCAG 4 -- us2k10--------
    rs1485185041,2
    --4343157(+) GCAGCA/GGCAGT 4 -- us2k10--------
    rs1453417341,2
    C--4343158(+) CAGCGA/GCAGTA 4 -- us2k10--------
    rs763729211,2
    --4343161(+) CGGCAG/TTAAGG 4 -- us2k10--------
    rs124957991,2
    H--4343338(+) GTGAAA/GGAATA 5 -- us2k10--------
    rs1132536961,2
    F--4343352(+) AGTAAC/TTGGTT 5 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs1448377371,2
    C--4343374(+) TGGCTC/TTGTAG 5 -- us2k10--------

    HapMap Linkage Disequilibrium report for SETMAR (4344988 - 4359251 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for SETMAR:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv876463CNV Loss21882294
    nsv469899CNV Loss18288195
    nsv876429CNV Loss21882294
    nsv876462CNV Loss21882294
    dgv272n21CNV Loss19592680
    nsv876461CNV Gain21882294
    dgv1431e1CNV Complex17122850

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609834    OMIM disorders: --

    3 diseases for SETMAR:    About MalaCards
    mantle cell lymphoma    situs inversus    breast cancer

    1 disease from the University of Copenhagen DISEASES database for SETMAR:
    Situs inversus

    SETMAR for disorders           About GeneDecksing

    Genetic Association Database (GAD): SETMAR
    Human Genome Epidemiology (HuGE) Navigator: SETMAR (1 document)

    Export disorders for SETMAR 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 SETMAR gene, integrated from 9 sources (see all 33):
    (articles sorted by number of sources associating them with SETMAR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular evolution of an ancient mariner transposon, Hsmar1, in the human genome. (PubMed id 9461395)1, 2, 3 Robertson H.M. and Zumpano K.L. (1997)
    2. Investigation of genetic susceptibility factors for h uman longevity - A targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (2010)
    3. Biochemical characterization of a SET and transposase fusion protein, Metnase: its DNA binding and DNA cleavage activity. (PubMed id 17877369)1, 2 Roman Y.... Lee S.H. (2007)
    4. The ancient mariner sails again: transposition of the human Hsmar1 element by a reconstructed transposase and activities of the SETMAR protein on transposon ends. (PubMed id 17403897)1, 2 Miskey C....Ivics Z. (2007)
    5. Birth of a chimeric primate gene by capture of the transposase gene from a mobile element. (PubMed id 16672366)1, 2 Cordaux R.... Feschotte C. (2006)
    6. The SET domain protein Metnase mediates foreign DNA integration and links integration to nonhomologous end-joining repair. (PubMed id 16332963)1, 2 Lee S.-H.... Hromas R. (2005)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. A Y2H-seq approach defines the human protein methyltransferase interactome. (PubMed id 23455924)1 Weimann M.... Stelzl U. (2013)
    9. Chk1 phosphorylation of Metnase enhances DNA repair bu t inhibits replication fork restart. (PubMed id 22231448)1 Hromas R....Lee S.H. (2012)
    10. Biochemical characterization of metnase's endonucleas e activity and its role in NHEJ repair. (PubMed id 21491884)1 Beck B.D....Lee S.H. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      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: 6419 HGNC: 10762 AceView: SETMAR Ensembl:ENSG00000170364 euGenes: HUgn6419
    ECgene: SETMAR Kegg: 6419 H-InvDB: SETMAR

    (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 SETMAR 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 SETMAR gene:
    Search GeneIP for patents involving SETMAR

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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