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    TGM2 transglutaminase 2 [ Homo sapiens (human) ]

    Gene ID: 7052, updated on 22-Apr-2017
    Official Symbol
    TGM2provided by HGNC
    Official Full Name
    transglutaminase 2provided by HGNC
    Primary source
    HGNC:HGNC:11778
    See related
    Ensembl:ENSG00000198959 MIM:190196; Vega:OTTHUMG00000032437
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TGC; TG(C)
    Summary
    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]
    Orthologs
    Location:
    20q11.23
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 20 NC_000020.11 (38127387..38166578, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (36756863..36794910, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene TELO2 interacting protein 1 Neighboring gene regulation of nuclear pre-mRNA domain containing 1B Neighboring gene RNA, 7SL, cytoplasmic 237, pseudogene Neighboring gene uncharacterized LOC107987281 Neighboring gene KIAA1755 Neighboring gene uncharacterized LOC149684 Neighboring gene bactericidal/permeability-increasing protein

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Cyclosporin (CsA) treatment prevents gp120-dependent induction of apoptosis by blocking the activation of Ca(2+)-dependent effector elements such as transglutaminase (TG) proteins PubMed
    Envelope transmembrane glycoprotein gp41 env The HIV-1 transmembrane glycoprotein gp41 is an amino acceptor and donor substrate for transglutaminase in vitro; soluble CD4 can block the transglutaminase-catalyzed incorporation of the polyamine spermidine into HIV-1 gp41 PubMed
    Rev rev tissue transglutaminase has been proposed to interfere with HIV replication through a specific interaction with eukaryotic initiation factor 5A (eIF-5A) that inhibits Rev-mediated nuclear export of viral mRNA PubMed
    Tat tat Microarray analysis indicates HIV-1 Tat-induced upregulation of transglutaminase 2 (TGM2) in primary human brain microvascular endothelial cells PubMed

    Go to the HIV-1, Human Interaction Database

    • Huntington's disease, organism-specific biosystem (from KEGG)
      Huntington's disease, organism-specific biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
    • Huntington's disease, conserved biosystem (from KEGG)
      Huntington's disease, conserved biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
    • Thromboxane A2 receptor signaling, organism-specific biosystem (from Pathway Interaction Database)
      Thromboxane A2 receptor signaling, organism-specific biosystem
      Thromboxane A2 receptor signaling
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTP binding IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein domain specific binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein-glutamine gamma-glutamyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein-glutamine gamma-glutamyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    focal adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intrinsic component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intrinsic component of plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    protein-glutamine gamma-glutamyltransferase 2
    Names
    C polypeptide, protein-glutamine-gamma-glutamyltransferase
    TGase C
    TGase H
    TGase-2
    tissue transglutaminase
    transglutaminase C
    transglutaminase H
    NP_001310245.1
    NP_001310246.1
    NP_001310247.1
    NP_004604.2
    NP_945189.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001323316.1NP_001310245.1  protein-glutamine gamma-glutamyltransferase 2 isoform a

      Status: REVIEWED

      Source sequence(s)
      AL031651, BQ011237, DB064707
      Consensus CDS
      CCDS13302.1
      UniProtKB/Swiss-Prot
      P21980
      UniProtKB/TrEMBL
      V9HWG3
      Conserved Domains (4) summary
      smart00460
      Location:269361
      TGc; Transglutaminase/protease-like homologues
      COG1305
      Location:271369
      YebA; Transglutaminase-like enzyme, putative cysteine protease [Posttranslational modification, protein turnover, chaperones]
      pfam00868
      Location:6120
      Transglut_N; Transglutaminase family
      pfam00927
      Location:587686
      Transglut_C; Transglutaminase family, C-terminal ig like domain
    2. NM_001323317.1NP_001310246.1  protein-glutamine gamma-glutamyltransferase 2 isoform c

      Status: REVIEWED

      Source sequence(s)
      AK295775, AL031651, BG772156, BQ011237, HY030430
      UniProtKB/TrEMBL
      B4DIT7
      Conserved Domains (4) summary
      smart00460
      Location:188280
      TGc; Transglutaminase/protease-like homologues
      COG1305
      Location:190288
      YebA; Transglutaminase-like enzyme, putative cysteine protease [Posttranslational modification, protein turnover, chaperones]
      pfam00868
      Location:663
      Transglut_N; Transglutaminase family
      pfam00927
      Location:506605
      Transglut_C; Transglutaminase family, C-terminal ig like domain
    3. NM_001323318.1NP_001310247.1  protein-glutamine gamma-glutamyltransferase 2 isoform d

      Status: REVIEWED

      Source sequence(s)
      AK300292, AL031651, BG772156, BQ011237, EU794665, HY030430
      UniProtKB/TrEMBL
      B4DTN7, V9HWG3
    4. NM_004613.3NP_004604.2  protein-glutamine gamma-glutamyltransferase 2 isoform a

      See identical proteins and their annotated locations for NP_004604.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Both variants 1 and 5 encode the same isoform (a).
      Source sequence(s)
      AK126508, AL031651, BC003551, BG772156, BQ011237, BQ430537, BQ938957, HY030430
      Consensus CDS
      CCDS13302.1
      UniProtKB/Swiss-Prot
      P21980
      UniProtKB/TrEMBL
      V9HWG3
      Related
      ENSP00000355330.2, OTTHUMP00000030960, ENST00000361475.6, OTTHUMT00000079151
      Conserved Domains (4) summary
      smart00460
      Location:269361
      TGc; Transglutaminase/protease-like homologues
      COG1305
      Location:271369
      YebA; Transglutaminase-like enzyme, putative cysteine protease [Posttranslational modification, protein turnover, chaperones]
      pfam00868
      Location:6120
      Transglut_N; Transglutaminase family
      pfam00927
      Location:587686
      Transglut_C; Transglutaminase family, C-terminal ig like domain
    5. NM_198951.2NP_945189.1  protein-glutamine gamma-glutamyltransferase 2 isoform b

      See identical proteins and their annotated locations for NP_945189.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and coding region compared to variant 1. The resulting isoform (b) is shorter and has a unique C-terminus compared to isoform a.
      Source sequence(s)
      AA493184, BC003551, BG772156, HY030430
      UniProtKB/Swiss-Prot
      P21980
      Conserved Domains (4) summary
      smart00460
      Location:269361
      TGc; Transglutaminase/protease-like homologues
      COG1305
      Location:271369
      YebA; Transglutaminase-like enzyme, putative cysteine protease [Posttranslational modification, protein turnover, chaperones]
      pfam00868
      Location:6120
      Transglut_N; Transglutaminase family
      pfam00927
      Location:473538
      Transglut_C; Transglutaminase family, C-terminal ig like domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p7 Primary Assembly

      Range
      38127387..38166578 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011529028.1XP_011527330.1  protein-glutamine gamma-glutamyltransferase 2 isoform X1

      See identical proteins and their annotated locations for XP_011527330.1

      UniProtKB/Swiss-Prot
      P21980
      UniProtKB/TrEMBL
      V9HWG3
      Conserved Domains (4) summary
      smart00460
      Location:269361
      TGc; Transglutaminase/protease-like homologues
      COG1305
      Location:271369
      YebA; Transglutaminase-like enzyme, putative cysteine protease [Posttranslational modification, protein turnover, chaperones]
      pfam00868
      Location:6120
      Transglut_N; Transglutaminase family
      pfam00927
      Location:587686
      Transglut_C; Transglutaminase family, C-terminal ig like domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018931.2 Alternate CHM1_1.1

      Range
      36659041..36698230 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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