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MAGI2 Gene

protein-coding   GIFtS: 59

GC07M077484
membrane associated guanylate kinase, WW and PDZ domain containing 2
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
ACVRINP1 3
ACVRIP1 1, 2
AIP1 1, 2, 3
ARIP1 1, 2
KIAA0705 1, 3
MAGI-2 1, 2, 3
SSCAM 2
Descriptions
Atrophin-1-interacting protein 1 3
Atrophin-1-interacting protein A 3
Membrane-associated guanylate kinase inverted 2 3
activin receptor interacting protein 1 2
atrophin 1 interacting protein 1 2
atrophin-1 interacting protein A 2
membrane associated guanylate kinase, WW and PDZ domain
containing 2 2
External Ids
HGNC: 189571
Entrez Gene: 98632
UniProtKB: Q86UL83
Ensembl: ENSG000001873917
Search outside databases for aliases for MAGI2 gene

Previous GC identifer: GC07M077292

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for MAGI2:
The protein encoded by this gene interacts with atrophin-1. Atrophin-1 contains a polyglutamine
repeat, expansion of which is responsible for dentatorubral and pallidoluysian atrophy. This
encoded protein is characterized by two WW domains, a guanylate kinase-like domain, and multiple
PDZ domains. It has structural similarity to the membrane-associated guanylate kinase homologue
(MAGUK) family. [provided by RefSeq]

UniProtKB/Swiss-Prot: MAGI2_HUMAN, Q86UL8
Function: Seems to act as scaffold molecule at synaptic junctions by assembling neurotransmitter
receptors and cell adhesion proteins. May play a role in regulating activin-mediated signaling in
neuronal cells. Enhances the ability of PTEN to suppress AKT1 activation

Gene Wiki entry for MAGI2

(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 MAGI2 gene  

Entrez Gene cytogenetic band: 7q21   Ensembl cytogenetic band:  7q21.11   HGNC cytogenetic band: 7q21

MAGI2 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 7         GeneLoc Exon Structure

GeneLoc location for GC07M077484:     (about GC identifiers)

Start:
77,484,310 bp from pter
End:
78,920,826 bp from pter
Size:
1,436,517 bases
Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 76,978,436-78,414,480     
RefSeq DNA sequence:
NC_000007.12  NT_007933.14  NT_079595.2  
(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: MAGI2_HUMAN, Q86UL8 (See protein sequence)
Recommended Name: Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2  
Size: 1455 amino acids; 158754 Da
Subunit: Interacts via its WW domains with DRPLA. Interacts via its second PDZ domain with PTEN
unphosphorylated C-terminus; this interaction diminishes the degradation rate of PTEN (By
similarity). Interacts through its guanylate kinase domain with DLGAP1 (By similarity). Interacts
through the PDZ domains with GRIN2A, GRID2 and NLGN1 (By similarity). Interacts with CTNND2,
CTNNB1, MAGUIN-1, ACVR2A, SMAD2 and SMAD3 (By similarity). Part of a complex consisting of AIP1,
ACVR2A, ACVR1B and SMAD3 (By similarity). May interact with HTR2A (By similarity). Interacts with
IGSF9, RAPGEF2 and HTR4 (By similarity). Interacts with DDN
Subcellular location: Cell junction, synapse, synaptosome (By similarity). Cell membrane;
Peripheral membrane protein (By similarity). Note=Membrane-associated in synaptosomes (By
similarity)
PDB structures from and Proteopedia :
1UEP (3D)    1UEQ (3D)    1UEW (3D)    1UJV (3D)    1WFV (3D)    
Secondary accessions: A4D1C1 A7E2C3 O60434 O60510 Q86UI7 Q9NP44 Q9UDQ5 Q9UDU1
Alternative splicing: 2 isoforms:  Q86UL8-1   Q86UL8-2   

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_036433.2  

    ENSEMBL proteins: 
    ENSP00000346151 ENSP00000385753 


    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 (AIP1)
    Human Recombinant Proteins from Abnova (MAGI2)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886 plasma membrane IEA--
    GO:0019717 synaptosome IEA--
    GO:0030054 cell junction IEA--
    GO:0045202 synapse IEA--
    About this table

    Antibodies for MAGI2: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for MAGI2
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (AIP1), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (MAGI2)
    Novus Biologicals Antibodies for MAGI2

    Assays for MAGI2: 
    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

    4 InterPro domains/families:
     IPR008144 Guanylate_kin
     IPR008145 Guanylt/Ca
     IPR001478 PDZ/DHR/GLGF
     IPR001202 WW_Rsp5_WWP


       GeneDecks  MAGI2 for the domains selected above  
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    Graphical View of Domain Structure for InterPro Entry Q86UL8

    ProtoNet protein and cluster: Q86UL8

    1 Blocks protein family: IPB001478 PDZ/DHR/GLGF domain

    UniProtKB/Swiss-Prot: MAGI2_HUMAN, Q86UL8
    Similarity: Belongs to the MAGUK family
    Similarity: Contains 1 guanylate kinase-like domain
    Similarity: Contains 6 PDZ (DHR) domains
    Similarity: Contains 2 WW domains

    (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 (MAGI2)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (MAGI2)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_012301

                  Applied Biosystems Silencer® siRNAs for MAGI2

                  Sigma-Aldrich siRNA and siRNA Panels for MAGI2  
                         Sigma-Aldrich shRNA for MAGI2  
                         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_012301
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_012301
                                     untagged cDNA clone in CMV expression vector: NM_012301 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_012301

    UniProtKB/Swiss-Prot: MAGI2_HUMAN, Q86UL8
    Function: Seems to act as scaffold molecule at synaptic junctions by assembling neurotransmitter
    receptors and cell adhesion proteins. May play a role in regulating activin-mediated signaling in
    neuronal cells. Enhances the ability of PTEN to suppress AKT1 activation

    2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Magi2):

    lethality-prenatal/perinatalnervous system

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515 protein binding IPI9647693
    GO:0019902 phosphatase binding IPI10760291
    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

    1 Invitrogen iPath™ Online BioAtlas - Pathway for MAGI2 (Maps provided by GeneGo):
     PTEN pathway

       GeneDecks  MAGI2 for the pathways selected above  
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    1 Millipore Pathway for MAGI2
     Signal transduction PTEN pathway

       GeneDecks  MAGI2 for the pathways selected above  
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    2 Sigma-Aldrich "Your Favorite Gene" Pathways for  MAGI2  (Your Favorite Gene powered by Ingenuity) 
     PTEN Signaling
     Tight Junction Signaling

       GeneDecks  MAGI2 for the pathways selected above  
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    1 Kegg Pathway  (Kegg details for MAGI2):
     hsa04530 Tight junction

       GeneDecks  MAGI2 for the pathways selected above  
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     Gene Network CentralTM Interacting Genes and Proteins Network for  MAGI2 


    5/8 Interacting proteins for MAGI2 (Q86UL81, 2) via UniProtKB, MINT, and/or STRING (see all 8 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ADRB1P085881, 2EBI-311035, EBI-991009 MINT-58358 MINT-58357 MINT-58359 MINT-58360 MINT-58361 EBI-311035, EBI-991009 MINT-58358 MINT-58357 MINT-58359 MINT-58360 MINT-58361
    AMOTL1Q8IY631EBI-311035, EBI-1057112
    POLR2AP249281EBI-311035, EBI-295301
    POLR2BP308761EBI-311035, EBI-394712
    ADRB1P085881, 2EBI-311035, EBI-991009 MINT-58358 MINT-58357 MINT-58359 MINT-58360 MINT-58361 EBI-311035, EBI-991009 MINT-58358 MINT-58357 MINT-58359 MINT-58360 MINT-58361
    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 MAGI2
    1 Novoseek chemical compound relationship for MAGI2 gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    guanylate 69.85 12 11526121 (3), 18565486 (1), 10760291 (1)
    About this table


    (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 (MAGI2)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (MAGI2)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_012301

                  Sigma-Aldrich siRNA and siRNA Panels for MAGI2  
                         Sigma-Aldrich shRNA for MAGI2  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_012301  

    REFSEQ mRNAs for MAGI2 gene: 

    NM_012301.3   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_012301  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_012301
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_012301
                                     untagged cDNA clone in CMV expression vector: NM_012301 

    Additional cDNA sequence: 

    AB014605.2 AF038563.1 AK297353.1 AK297580.1 AK298988.1 AK308685.1 AK309012.1 BC150277.1 

    9 DOTS entries:

    DT.92422073  DT.210404  DT.75183613  DT.75135516  DT.97825277  DT.95350132  DT.121038497  DT.91978936 
    DT.99987070 

    1 AceView cDNA sequence:

    BX645880 

    highest scoring ESTs for MAGI2:

    AB014605 BX645880 AA448219 AA448362 AA890379 AA976171 AI023086 AI038850 AI142921 AI263875 

    Unigene Cluster for MAGI2:

    Membrane associated guanylate kinase, WW and PDZ domain containing 2
    Hs.603842  [show with all ESTs]
    Unigene Representative Sequence: NM_012301


    GeneLoc Exon Structure

    2 Ensembl transcripts including schematic representations:
    ENST00000354212  ENST00000404825  
    (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

    MAGI2 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for MAGI2

    1 / 2 / 3

    5 probe-sets matching MAGI2 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    34257_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 AB014605 1.00 0.87 0.94 1

    209737_at2, 3 U133-A 1 1.00 1.00 -- -- AB014605 1.00 0.87 0.94 1

    207702_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_012301 0.60 1.00 0.82 1

    209737_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    207702_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  MAGI2 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: TATTAATAGT

    SOURCE GeneReport for Unigene cluster: Hs.603842

    UniProtKB/Swiss-Prot: MAGI2_HUMAN, Q86UL8
    Tissue specificity: Specifically expressed in brain

    (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 MAGI2 gene from 5/8 species (see all 8 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    MAGI21   -- membrane associated guanylate kinase, WW and PDZ domain more 89.66(n)
    93.1(a)
    475904  XM_533111.2  XP_533111.2 
    chimpanzee
    (Pan troglodytes)
    MAGI21   -- membrane associated guanylate kinase, WW and PDZ domain more 95.29(n)
    94.66(a)
    463498  XM_519172.2  XP_519172.2 
    cow
    (Bos taurus)
    MAGI21   -- membrane associated guanylate kinase, WW and PDZ domain more 90.64(n)
    93.41(a)
    517124  XM_595287.3  XP_595287.3 
    rat
    (Rattus norvegicus)
    Magi21   -- membrane associated guanylate kinase, WW and PDZ domain more 92.12(n)
    97.96(a)
    113970  NM_053621.1  NP_446073.1 
    mouse
    (Mus musculus)
    Magi21, 5 55
    membrane associated guanylate kinase, WW and PDZ domain more1, 5 92.31(n)1
    96.39(a)1
    507911  XM_001000876.21  XP_001000876.11 
     AA2757885  AB0294855  (see all 13)
    About this table        Species with no ortholog for MAGI2

    ENSEMBL Gene Tree for MAGI2
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for MAGI2 gene
    ENSG000001512762  MAGIX2  MAGI32  

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


    10/9572 NCBI SNPs in MAGI2 are shown (see all 9572 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 3137)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 7 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs44739631,2
    A,C,F,H77485258(+) GCTAAT/CTAATT 1 -- ut314Minor allele frequency- C:0.49EU EA WA 402
    rs102318841,2
    A,C,F,H78922736(+) TTAAAA/GAAAGA 1 -- ng318Minor allele frequency- G:0.48EU EA WA 826
    rs24289191,2
    A,F77484238(+) GTCGAT/CGAAAA 1 -- ng512Minor allele frequency- C:0.20NA 182
    rs171525251,2
    F,H78921916(+) TGACAA/GTTTAA 1 -- ng317Minor allele frequency- G:0.18NA EU EA WA 558
    rs19900981,2
    H,O78921790(+) CGGTTG/TTCTGG 1 -- ng313Minor allele frequency- T:0.00EU EA 290
    rs102795021,2
    F,H78920673(+) GAAGAA/CCAGCA 1 -- ut51 trp34Minor allele frequency- C:0.02EU EA WA 420
    rs132331581,2
    H78920855(+) gtggtG/Agtggc 1 -- ng314Minor allele frequency- A:0.00EU EA WA 420
    --
    rs31857681,2
    F77486248(-) TCCCCA/CCTGCA 1 -- ut311Minor allele frequency- C:0.06MN 184
    rs10095241,2
    A,C,F,H,O77627339(-) GAGAAT/CGAGGG 1 N/N syn111Minor allele frequency- C:0.17MN EU EA WA NA 2396
    rs20746411,2
    C,F,H,O77594516(+) TCCAGC/TAGGGG 1 L/L syn1 ese39Minor allele frequency- T:0.33EA NA EU WA 1944
    About this table

    HapMap Linkage Disequilibrium images for MAGI2 (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: 606382

    Human Gene Mutation Database: MAGI2
    Human Genome Epidemiology Navigator: MAGI2 (5 documents)

    (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

    10/28 PubMed articles for MAGI2 gene (see all 28 ):
    (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: 9863 HGNC: 18957 AceView: AIP1.2 Ensembl:ENSG00000187391 euGenes: HUgn9863
    ECgene: MAGI2 H-InvDB: MAGI2
    (According to HUGE)
    About This Section

    HUGE: KIAA0705
    (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 MAGI2:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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