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TGM2 Gene

protein-coding   GIFtS: 73
GCID: GC20M036756

Transglutaminase 2

(Previous names: transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase))
Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Transglutaminase 21 2     Transglutaminase 2 (C Polypeptide,
Protein-Glutamine-Gamma-Glutamyltransferase)1
protein-glutamine-gamma-glutamyltransferase1 2     G-ALPHA-h2
Tissue Transglutaminase2 3     GNAH2
Transglutaminase C2 3     HEL-S-452
Transglutaminase H2 3     TG22
TG(C)2 3     TGase-H2
TGC2 3     C Polypeptide, Protein-Glutamine-Gamma-Glutamyltransferase2
TGase-22 3     Epididymis Secretory Protein Li 452
TGase C2 3     Protein-Glutamine Gamma-Glutamyltransferase 22
TGase H2 3     transglutaminase-22
EC 2.3.2.133 8     Transglutaminase-23
C Polypeptide1     

External Ids:    HGNC: 117781   Entrez Gene: 70522   Ensembl: ENSG000001989597   OMIM: 1901965   UniProtKB: P219803   

Export aliases for TGM2 gene to outside databases

Previous GC identifers: GC20M036486 GC20M037395 GC20M037442 GC20M036190 GC20M033493


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TGM2 Gene:
Transglutaminases are enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine
isopeptide bonds. While the primary structure of transglutaminases is not conserved, they all have the same amino
acid sequence at their active sites and their activity is calcium-dependent. The protein encoded by this gene
acts as a monomer, is induced by retinoic acid, and appears to be involved in apoptosis. Finally, the encoded
protein is the autoantigen implicated in celiac disease. Two transcript variants encoding different isoforms have
been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for TGM2 Gene:
TGM2 (transglutaminase 2) is a protein-coding gene. Diseases associated with TGM2 include focal myositis, and nephrogenic systemic fibrosis. GO annotations related to this gene include GTP binding and protein-glutamine gamma-glutamyltransferase activity. An important paralog of this gene is TGM3.

UniProtKB/Swiss-Prot: TGM2_HUMAN, P21980
Function: Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins

Gene Wiki entry for TGM2 (Tissue transglutaminase) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000020.11  NC_018931.2  NT_011362.11  
Regulatory elements:
   Regulatory transcription factor binding sites in the TGM2 gene promoter:
         COUP-TF1   STAT1   COUP-TF   COUP   HNF-4alpha1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): TGM2 promoter sequence
   Search Chromatin IP Primers for TGM2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TGM2


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

Entrez Gene cytogenetic band: 20q12   Ensembl cytogenetic band:  20q11.23   HGNC cytogenetic band: 20q12

TGM2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TGM2 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M036756:  view genomic region     (about GC identifiers)

Start:
36,756,863 bp from pter      End:
36,794,980 bp from pter
Size:
38,118 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: TGM2_HUMAN, P21980 (See protein sequence)
Recommended Name: Protein-glutamine gamma-glutamyltransferase 2  
Size: 687 amino acids; 77329 Da
Cofactor: Binds 1 calcium ion per subunit (By similarity)
Subunit: Monomer
Selected PDB 3D structures from and Proteopedia for TGM2 (see all 7):
1FAU (3D)        1KV3 (3D)        2Q3Z (3D)        3LY6 (3D)        3S3J (3D)        3S3P (3D)    
Secondary accessions: E1P5V9 Q16436 Q6B838 Q9BTN7 Q9UH35
Alternative splicing: 3 isoforms:  P21980-1   P21980-2   P21980-3   

Explore the universe of human proteins at neXtProt for TGM2: NX_P21980

Explore proteomics data for TGM2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for TGM2 (P21980) (see all 14)
     LVVRRGQ  WMTRPDL  WNFGQFE  GRWDNNY 


    See TGM2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_004604.2  NP_945189.1  

    ENSEMBL proteins: 
     ENSP00000355330   ENSP00000362502   ENSP00000387642   ENSP00000444701   ENSP00000437479  

    TGM2 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for TGM2 (Transglutaminase 2/TGM2)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for TGM2
    OriGene Protein Over-expression Lysate for TGM2
    OriGene MassSpec for TGM2
    OriGene Custom Protein Services for TGM2
    GenScript Custom Purified and Recombinant Proteins Services for TGM2
    Novus Biologicals TGM2 Proteins
    Novus Biologicals TGM2 Lysates
    Sino Biological Recombinant Protein for TGM2
    Sino Biological Cell Lysate for TGM2
    ProSpec Recombinant Protein for TGM2
    Cloud-Clone Corp. Proteins for TGM2

    TGM2 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of TGM2
    R&D Systems Antibodies for TGM2 (Transglutaminase 2/TGM2)
    Cell Signaling Technology (CST) Antibodies for TGM2 
    OriGene Antibodies for TGM2
    OriGene Custom Antibody Services for TGM2
    Novus Biologicals TGM2 Antibodies
    Abcam antibodies for TGM2
    Cloud-Clone Corp. Antibodies for TGM2
    ThermoFisher Antibody for TGM2
    LSBio Antibodies in human, mouse, rat for TGM2

    TGM2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for TGM2
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for TGM2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for TGM2
    Cloud-Clone Corp. CLIAs for TGM2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    TGM: Transglutaminases

    Selected InterPro protein domains (see all 7):
     IPR008958 Transglutaminase_C
     IPR014756 Ig_E-set
     IPR023608 Gln_gamma-glutamylTfrase_euk
     IPR001102 Transglutaminase_N
     IPR013808 Transglutaminase_CS

    Graphical View of Domain Structure for InterPro Entry P21980

    ProtoNet protein and cluster: P21980

    1 Blocks protein domain: IPB002931 Transglutaminase-like domain

    UniProtKB/Swiss-Prot: TGM2_HUMAN, P21980
    Similarity: Belongs to the transglutaminase superfamily. Transglutaminase family


    TGM2 for domains           About GeneDecksing


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

         UniProtKB/Swiss-Prot Summary: TGM2_HUMAN, P21980
    Function: Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins
    Catalytic activity: Protein glutamine + alkylamine = protein N(5)-alkylglutamine + NH(3)
    Induction: By retinoic acid

         Genatlas biochemistry entry for TGM2:
    transglutaminase,C polypeptide,tissue,type II (80kDa),cytoplasmic,ubiquitous,interacting with huntingtin

         Enzyme Number (IUBMB): EC 2.3.2.131 2

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003810protein-glutamine gamma-glutamyltransferase activity ISS--
    GO:0005515protein binding IPI16301118
    GO:0005525GTP binding IEA--
    GO:0019904protein domain specific binding IEA--
    GO:0046872metal ion binding IEA--
         
    TGM2 for ontologies           About GeneDecksing


    Phenotypes:
         12 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Tgm2):
     behavior/neurological  cardiovascular system  cellular  growth/size/body  hematopoietic system 
     homeostasis/metabolism  immune system  mortality/aging  nervous system  no phenotypic analysis 
     renal/urinary system  tumorigenesis 

    TGM2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for TGM2: Tgm2tm1.1Rmgr Tgm2tm1Gml Tgm2tm1Syki

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TGM2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TGM2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TGM2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TGM2

    miRNA
    Products:
        
    miRTarBase miRNAs that target TGM2:
    hsa-mir-34a-5p (MIRT025339), hsa-mir-155-5p (MIRT020574), hsa-mir-30a-5p (MIRT028406), hsa-mir-7-5p (MIRT025649), hsa-mir-375 (MIRT019710)

    Block miRNA regulation of human, mouse, rat TGM2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TGM2 (see all 15):
    hsa-miR-485-5p hsa-miR-4283 hsa-miR-3179 hsa-miR-1270 hsa-miR-19b hsa-miR-3154 hsa-miR-620 hsa-miR-518a-5p
    SwitchGear 3'UTR luciferase reporter plasmidTGM2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for TGM2
    Predesigned siRNA for gene silencing in human, mouse, rat TGM2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for TGM2

    Clone
    Products:
         
    OriGene clones in human, mouse for TGM2 (see all 11)
    OriGene ORF clones in mouse, rat for TGM2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): TGM2 (NM_004613)
    Sino Biological Human cDNA Clone for TGM2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TGM2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TGM2

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for TGM2
    Browse ESI BIO Cell Lines and PureStem Progenitors for TGM2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TGM2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus3
    plasma membrane3
    cytoskeleton2
    extracellular2
    mitochondrion2
    endoplasmic reticulum1
    lysosome1
    vacuole1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion IEA--
    GO:0005886plasma membrane IEA--
    GO:0070062extracellular vesicular exosome IDA19056867

    TGM2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for TGM2 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Translation Translation regulation by Alpha 1 adrenergic receptors
    Development Activation of ERK by Alpha 1 adrenergic receptors0.64
    2CREB Pathway
    Activation of PKC through GPCR0.63
    3Phospholipase-C Pathway
    Phospholipase-C Pathway0.56
    4Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Huntington's disease0.45
    5Thromboxane A2 receptor signaling
    Thromboxane A2 receptor signaling

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for TGM2
        Phospholipase-C Pathway
    Activation of PKC through GPCR

    1 Cell Signaling Technology (CST) Pathway for TGM2
        Ca, cAMP and Lipid Signaling

    1 GeneGo (Thomson Reuters) Pathway for TGM2
        Development Activation of ERK by Alpha-1 adrenergic receptors

    1 BioSystems Pathway for TGM2
        Thromboxane A2 receptor signaling



    1 Kegg Pathway  (Kegg details for TGM2):
        Huntington's disease


    TGM2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TGM2: 
              Autophagy in human mouse rat
              Huntington's Disease in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TGM2

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

    Selected Interacting proteins for TGM2 (P219801, 2, 3 ENSP000003553304) via UniProtKB, MINT, STRING, and/or I2D (see all 102)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NME1P155312, 3, ENSP000000130344MINT-7219896 MINT-7219905 I2D: score=1 STRING: ENSP00000013034
    FN1P027511, 3, ENSP000003468394EBI-727668,EBI-1220319 I2D: score=3 STRING: ENSP00000346839
    SMAD2Q157962, 3, ENSP000002621604MINT-61627 I2D: score=3 STRING: ENSP00000262160
    SMAD3P840222, 3, ENSP000003329734MINT-61737 I2D: score=3 STRING: ENSP00000332973
    PAK1Q131532, 3, ENSP000002785684MINT-8272762 I2D: score=2 STRING: ENSP00000278568
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001974blood vessel remodeling IEA--
    GO:0007200phospholipase C-activating G-protein coupled receptor signaling pathway ----
    GO:0018149peptide cross-linking ----
    GO:0018153isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine IEA--
    GO:0043065positive regulation of apoptotic process IEA--

    TGM2 for ontologies           About GeneDecksing



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

    Browse Tocris compounds for TGM2

    3 HMDB Compounds for TGM2    About this table
    CompoundSynonyms CAS #PubMed Ids
    AmmoniaNH3 (see all 31)7664-41-7--
    CalciumCa (see all 2)7440-70-2--
    L-Glutamine(2S)-2,5-diamino-5-oxopentanoic acid (see all 31)56-85-9--

    2 DrugBank Compounds for TGM2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Guanosine-5'-Diphosphate-- 146-91-8target--17139284 17016423
    L-Glutamine(S)-2,5-diamino-5-oxopentanoic acid (see all 4)56-85-9enzymesubstrate16987813 17075129

    Selected Novoseek inferred chemical compound relationships for TGM2 gene (see all 32)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tgm 2 93.2 108 18235007 (12), 10334875 (8), 19763620 (7), 11742196 (5) (see all 16)
    gliadin 87.4 53 14747475 (4), 16377644 (3), 18376241 (3), 15290344 (2) (see all 29)
    gluten 86.5 50 17309775 (4), 12670536 (3), 16386476 (3), 15661929 (3) (see all 23)
    epsilon-(gamma-glutamyl)lysine 83.9 6 15715085 (1), 12528814 (1), 18235007 (1), 20192918 (1)
    cystamine 82.2 27 19632032 (5), 16181425 (2), 15715085 (1), 17669706 (1) (see all 11)
    glutamine 67.6 39 18761350 (2), 10334875 (1), 12205028 (1), 14747475 (1) (see all 22)
    gtp 56.5 39 19079660 (4), 17179049 (3), 16522628 (3), 15290346 (2) (see all 14)
    reticulin 51.5 6 12524400 (2), 9834257 (1), 15082580 (1)
    monodansylcadaverine 51.4 3 15069073 (1), 1680857 (1)
    lysine 45.8 18 14747475 (3), 18761350 (2), 18950638 (1), 17988081 (1) (see all 9)



    TGM2 for compounds           About GeneDecksing



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

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    REFSEQ mRNAs for TGM2 gene (2 alternative transcripts): 
    NM_004613.2  NM_198951.1  

    Unigene Cluster for TGM2:

    Transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)
    Hs.517033  [show with all ESTs]
    Unigene Representative Sequence: NM_004613
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000469269(uc002xhq.3) ENST00000361475(uc002xhr.3 uc010zvx.2 uc010zvy.2 uc002xhs.1)
    ENST00000468262(uc002xht.3) ENST00000474777(uc002xhu.3) ENST00000373403
    ENST00000453095 ENST00000536701 ENST00000536724
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat TGM2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TGM2 (see all 15):
    hsa-miR-485-5p hsa-miR-4283 hsa-miR-3179 hsa-miR-1270 hsa-miR-19b hsa-miR-3154 hsa-miR-620 hsa-miR-518a-5p
    SwitchGear 3'UTR luciferase reporter plasmidTGM2 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for TGM2
    Predesigned siRNA for gene silencing in human, mouse, rat TGM2
    Clone
    Products:
         
    OriGene clones in human, mouse for TGM2 (see all 11)
    OriGene ORF clones in mouse, rat for TGM2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): TGM2 (NM_004613)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TGM2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TGM2
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for TGM2
    OriGene qSTAR qPCR primer pairs in human, mouse for TGM2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TGM2
      QuantiTect SYBR Green Assays in human, mouse, rat TGM2
      QuantiFast Probe-based Assays in human, mouse, rat TGM2

    Additional mRNA sequence: 

    AK058031.1 AK291714.1 AK295775.1 AK300292.1 AK314618.1 AY675221.1 BC003551.1 BC073946.1 
    M55153.1 M98478.1 M98479.1 S81734.1 

    Selected DOTS entries (see all 61):

    DT.97864451  DT.87017520  DT.95284662  DT.120835528  DT.91711201  DT.100884909  DT.95205745  DT.100884877 
    DT.100884887  DT.100884889  DT.120835507  DT.40245747  DT.95088396  DT.100766727  DT.100884895  DT.92462870 
    DT.100884900  DT.120835482  DT.95088391  DT.120835725  DT.92462880  DT.120835494  DT.100840838  DT.120835608 

    Selected AceView cDNA sequences (see all 999):

    BU789454 BI869884 AA336321 BM983603 AI432676 AW305054 CA388624 BP349883 
    BQ230556 AI358944 BG250986 CR597023 BQ014810 AA336219 BM842781 BE044060 
    CR604340 AI673179 AA369451 BM989477 AW517894 CR621826 BF850363 CR626497 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TGM2 (see all 19)    About this scheme

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

    ExUns: 11a · 11b · 11c ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16a · 16b · 16c ^ 17 ^ 18a · 18b
    SP1:              -                                   -     -                                 
    SP2:              -                                   -     -                                 
    SP3:              -                                                                           
    SP4:                                                                                          
    SP5:                                                                                          


    ECgene alternative splicing isoforms for TGM2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TGM2 expression in normal human tissues (normalized intensities)      TGM2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATATTTTCT
    TGM2 Expression
    About this image


    TGM2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 13) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Chondrocytes Zeugopod Epiphyseal End
             Membranous Facial Bones
     
     Cartilage (Muscoskeletal System)    fully expand to see all 3 entries
             Mesenchymal Condensate Cells Zeugopod
             Meckel's Cartilage
     
     Epithelial Cells
             Basal Keratinocytes Embryonic Epidermis
     
     Hair
             Primary Hair Placode Cells Hair Follicle
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Myoblasts Mandibular Arch Muscles
    TGM2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TGM2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.517033
        Pathway & Disease-focused RT2 Profiler PCR Arrays including TGM2: 
              Autophagy in human mouse rat
              Huntington's Disease in human mouse rat

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

    Orthologs for TGM2 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tgm21 , 5 transglutaminase 2, C polypeptide1, 5 83.04(n)1
    84.26(a)1
      2 (78.72 cM)5
    218171  NM_009373.31  NP_033399.11 
     1581164025 
    chicken
    (Gallus gallus)
    Aves TGM21 transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) 69.39(n)
    64.82(a)
      396432  NM_205448.1  NP_990779.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    61(a)
    60(a)
    many → 1
    many → 1
    GL343413.1(3342-24215)
    GL343572.1(202498-264031)
    African clawed frog
    (Xenopus laevis)
    Amphibia tgm2-prov2 protein-glutamine gamma-glutamyltransferase 76.19(n)    BC056053.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.165242 Danio rerio protein-glutamine gamma-glutamyltransferase more 75.11(n)    AF242545.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG73563 protein-glutamine
    gamma-glutamyltransferase
    34(a)     --


    ENSEMBL Gene Tree for TGM2 (if available)
    TreeFam Gene Tree for TGM2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TGM2 gene
    TGM32  F13A12  TGM12  EPB422  TGM52  TGM72  TGM42  TGM62  
    10 SIMAP similar genes for TGM2 using alignment to 7 protein entries:     TGM2_HUMAN (see all proteins):
    DKFZp667H046    TGM1    TGM7    hTGP    TGM3    TGM5
    TGM6    F13A1    EPB42    TGM4

    TGM2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TGM2 (see all 1084)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0365544
    A colorectal cancer sample4--see VAR_0365542 G V mis40--------
    rs1815062261,2
    --36756375(+) GCCTCA/GAGGGC 1 -- ds50010--------
    rs785289161,2
    C,F--36756400(+) AGAAGG/CGGACA 1 -- ds50012Minor allele frequency- C:0.11CSA WA 120
    rs569777641,2
    C--36756514(+) AGAGGT/AGACTT 1 -- ds50013Minor allele frequency- A:0.18WA EA 240
    rs1152902991,2
    C,F--36756600(+) AACTAC/TATACA 1 -- ds50010--------
    rs1160881361,2
    F--36756661(+) GTTAAT/CTGTGG 1 -- ds50011Minor allele frequency- C:0.02WA 118
    rs1507346421,2
    C--36756692(+) GGAAGA/GGGCCG 1 -- ds50010--------
    rs1458641631,2
    C--36756848(+) AGGAA-/CAGAC 
            
    CAGAC
    1 -- ds50010--------
    rs2002264081,2
    C--36756849(+) AGACC-/AGAC  
     C
    /CAGAC
    TAGTT
    1 -- ds50010--------
    rs455211321,2
    F--36756853(-) GTCTG-/GTCTG 
            
    GTCTG
    1 -- ds50015Minor allele frequency- GTCTG:0.03NS 178

    HapMap Linkage Disequilibrium report for TGM2 (36756863 - 36794980 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for TGM2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv833972CNV Loss17160897
    esv29167CNV Gain19812545

    Human Gene Mutation Database (HGMD): TGM2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TGM2
    DNA2.0 Custom Variant and Variant Library Synthesis for TGM2

    (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.)
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    OMIM gene information: 190196    OMIM disorders: --

    Selected diseases for TGM2 (see all 85):    About MalaCards
    focal myositis    nephrogenic systemic fibrosis    dermatitis herpetiformis    celiac disease
    oculopharyngeal muscular dystrophy    immunoglobulin alpha deficiency    chorea-acanthocytosis    acanthocytosis
    chorea    gastrointestinal system disease    irritable bowel syndrome    huntington's disease
    pterygium    vascular dementia    differentiating neuroblastoma    cerebral amyloid angiopathy
    brain ischemia    arthropathy    cervical intraepithelial neoplasia    dementia

    3 diseases from the University of Copenhagen DISEASES database for TGM2:
    Celiac disease     Dermatitis herpetiformis     Huntington's disease

    TGM2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for TGM2 gene (see all 48)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    celiac disease 88.6 68 19680746 (3), 12670536 (2), 14747475 (2), 18092889 (2) (see all 47)
    dermatitis herpetiformis 65.1 4 12524400 (1), 15082580 (1), 14714018 (1)
    carcinoma pancreatic ductal 62.7 1 16951195 (1)
    huntington disease 57.3 10 18379433 (2), 17127346 (2), 20395409 (1), 18417122 (1) (see all 5)
    neurodegenerative diseases 48.8 19 17127346 (3), 18220838 (2), 19079660 (1), 18375543 (1) (see all 9)
    malabsorption 45.9 1 18286171 (1)
    myopathies idiopathic inflammatory 44.4 1 14631123 (1)
    autoimmune diseases 42.1 1 19892302 (1)
    atrophy 39.2 6 10556545 (1), 15082580 (1), 16293556 (1), 15181616 (1) (see all 5)
    pancreatic cancer 29.9 7 17374730 (4), 17507797 (2), 20224296 (1)

    Genetic Association Database (GAD): TGM2
    Human Genome Epidemiology (HuGE) Navigator: TGM2 (5 documents)

    Export disorders for TGM2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TGM2 gene, integrated from 10 sources (see all 500):
    (articles sorted by number of sources associating them with TGM2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Missense mutations in the TGM2 gene encoding transglutaminase 2 are found in patients with early-onset type 2 diabetes. (PubMed id 17939176)1, 2, 4, 9 Porzio O.... Barbetti F. (Hum. Mutat. 2007)
    2. Transglutaminase 2 undergoes a large conformational change upon activation. (PubMed id 18092889)1, 2, 9 Pinkas D.M.... Khosla C. (PLoS Biol. 2007)
    3. The TGM2 gene is associated with schizophrenia in a British population. (PubMed id 18561261)1, 4, 9 Bradford M....Wei J. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009)
    4. Germline mutations in TGM2 do not contribute to coeliac disease susceptibility in the Swedish population. (PubMed id 11742196)1, 4, 9 Popat S....Houlston R.S. (amp 2001)
    5. A third human tissue transglutaminase homologue as a result of alternative gene transcripts. (PubMed id 8611626)1, 2, 9 Fraij B.M. and Gonzales R.A. (Biochim. Biophys. Acta 1996)
    6. The human tissue transglutaminase gene maps on chromosome 20q12 by in situ fluorescence hybridization. (PubMed id 7912692)1, 3, 9 Gentile V....Baldini A. (Genomics 1994)
    7. Exploring functional candidate genes for genetic association in german patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma. (PubMed id 19182256)1, 4 Krumbiegel M....Reis A. (amp 2009)
    8. 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. (Genome Res. 2004)
    9. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
    10. Evolution of transglutaminase genes: identification of a transglutaminase gene cluster on human chromosome 15q15. Structure of the gene encoding transglutaminase X and a novel gene family member, transglutaminase Z. (PubMed id 11390390)1, 3 Grenard P.... Aeschlimann D. (J. Biol. Chem. 2001)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 7052 HGNC: 11778 AceView: TGM2 Ensembl:ENSG00000198959 euGenes: HUgn7052
    ECgene: TGM2 Kegg: 7052 H-InvDB: TGM2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TGM2 Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Tissue_transglutaminase
    NIEHS-SNPshttp://egp.gs.washington.edu/data/tgm2/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TGM2 gene:
    Search GeneIP for patents involving TGM2

    Licensable Technologies for TGM2 gene:
    Weizmann Institute:Transglutaminase inhibitors for the treatment of neurodegenerative diseases
    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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