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    TGM2 transglutaminase 2 [ Homo sapiens (human) ]

    Gene ID: 7052, updated on 3-Dec-2024

    Summary

    Official Symbol
    TGM2provided by HGNC
    Official Full Name
    transglutaminase 2provided by HGNC
    Primary source
    HGNC:HGNC:11778
    See related
    Ensembl:ENSG00000198959 MIM:190196; AllianceGenome:HGNC:11778
    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; tTG; G(h); hTG2; 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]
    Expression
    Broad expression in placenta (RPKM 177.0), endometrium (RPKM 107.6) and 16 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TGM2 in Genome Data Viewer
    Location:
    20q11.23
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (38127385..38168475, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (39852468..39893578, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (36755787..36794910, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 237, pseudogene Neighboring gene Sharpr-MPRA regulatory region 2618 Neighboring gene uncharacterized LOC124904899 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:36740455-36740954 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36770637-36771306 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36771307-36771975 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12897 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr20:36845917-36847116 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36847531-36848032 Neighboring gene KIAA1755 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36874844-36875344 Neighboring gene uncharacterized LOC124904900 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:36881371-36881963 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36888895-36889394 Neighboring gene uncharacterized LOC149684 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12898 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36915021-36915522

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in apoptotic cell clearance IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in bone development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in branching involved in salivary gland morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to cocaine IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to dopamine IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to serotonin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_positive_effect dopamine secretion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_positive_effect gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of endoplasmic reticulum calcium ion concentration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in peptide cross-linking IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in phospholipase C-activating G protein-coupled receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in phospholipase C-activating G protein-coupled receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of GTPase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cell adhesion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of mitochondrial calcium ion concentration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of neurogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of small GTPase mediated signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of sprouting angiogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein deamination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein homooligomerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of apoptotic cell clearance IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in salivary gland cavitation IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    protein-glutamine gamma-glutamyltransferase 2
    Names
    C polypeptide, protein-glutamine-gamma-glutamyltransferase
    TGase C
    TGase H
    TGase II
    TGase-2
    erythrocyte transglutaminase
    heart G alpha(h)
    hhG alpha(h)
    isopeptidase TGM2
    protein G alpha(h)
    protein-glutamine deamidase TGM2
    protein-glutamine dopaminyltransferase TGM2
    protein-glutamine histaminyltransferase TGM2
    protein-glutamine noradrenalinyltransferase TGM2
    protein-glutamine serotonyltransferase TGM2
    tTgase
    tissue transglutaminase
    transglutaminase C
    transglutaminase H
    transglutaminase II
    NP_001310245.1
    NP_001310246.1
    NP_001310247.1
    NP_004604.2
    NP_945189.1
    XP_011527330.1
    XP_047296399.1
    XP_054179933.1
    XP_054179934.1
    XP_054179935.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001323316.2NP_001310245.1  protein-glutamine gamma-glutamyltransferase 2 isoform a

      Status: REVIEWED

      Source sequence(s)
      AL031651, BQ011237, DB064707
      Consensus CDS
      CCDS13302.1
      UniProtKB/Swiss-Prot
      E1P5V9, P21980, Q16436, Q6B838, Q9BTN7, Q9H035, Q9UH35
      UniProtKB/TrEMBL
      B4DTN7, V9HWG3
      Conserved Domains (3) summary
      smart00460
      Location:269361
      TGc; Transglutaminase/protease-like homologues
      pfam00868
      Location:5122
      Transglut_N; Transglutaminase family
      pfam00927
      Location:473573
      Transglut_C; Transglutaminase family, C-terminal ig like domain
    2. NM_001323317.2NP_001310246.1  protein-glutamine gamma-glutamyltransferase 2 isoform c

      Status: REVIEWED

      Source sequence(s)
      AK295775, AL031651, BQ011237
      UniProtKB/TrEMBL
      B4DIT7, B4DTN7
      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_001323318.2NP_001310247.1  protein-glutamine gamma-glutamyltransferase 2 isoform d

      Status: REVIEWED

      Source sequence(s)
      AK300292, AL031651, BQ011237, EU794665, HY030430
      UniProtKB/TrEMBL
      B4DTN7
    4. NM_004613.4NP_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, BQ011237, BQ430537, BQ938957, HY030430
      Consensus CDS
      CCDS13302.1
      UniProtKB/Swiss-Prot
      E1P5V9, P21980, Q16436, Q6B838, Q9BTN7, Q9H035, Q9UH35
      UniProtKB/TrEMBL
      B4DTN7, V9HWG3
      Related
      ENSP00000355330.2, ENST00000361475.7
      Conserved Domains (3) summary
      smart00460
      Location:269361
      TGc; Transglutaminase/protease-like homologues
      pfam00868
      Location:5122
      Transglut_N; Transglutaminase family
      pfam00927
      Location:473573
      Transglut_C; Transglutaminase family, C-terminal ig like domain
    5. NM_198951.3NP_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, AL031651, BC003551, HY030430
      UniProtKB/Swiss-Prot
      P21980
      Related
      ENST00000468262.5
      Conserved Domains (3) summary
      smart00460
      Location:269361
      TGc; Transglutaminase/protease-like homologues
      pfam00868
      Location:4122
      Transglut_N; Transglutaminase family
      pfam00927
      Location:473538
      Transglut_C; Transglutaminase family, C-terminal ig like domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      38127385..38168475 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047440443.1XP_047296399.1  protein-glutamine gamma-glutamyltransferase 2 isoform X1

      UniProtKB/TrEMBL
      B4DTN7
    2. XM_011529028.2XP_011527330.1  protein-glutamine gamma-glutamyltransferase 2 isoform X2

      See identical proteins and their annotated locations for XP_011527330.1

      UniProtKB/Swiss-Prot
      E1P5V9, P21980, Q16436, Q6B838, Q9BTN7, Q9H035, Q9UH35
      UniProtKB/TrEMBL
      B4DTN7, V9HWG3
      Conserved Domains (3) summary
      smart00460
      Location:269361
      TGc; Transglutaminase/protease-like homologues
      pfam00868
      Location:5122
      Transglut_N; Transglutaminase family
      pfam00927
      Location:473573
      Transglut_C; Transglutaminase family, C-terminal ig like domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      39852468..39893578 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323958.1XP_054179933.1  protein-glutamine gamma-glutamyltransferase 2 isoform X1

      UniProtKB/TrEMBL
      B4DTN7
    2. XM_054323959.1XP_054179934.1  protein-glutamine gamma-glutamyltransferase 2 isoform X2

      UniProtKB/Swiss-Prot
      E1P5V9, P21980, Q16436, Q6B838, Q9BTN7, Q9H035, Q9UH35
      UniProtKB/TrEMBL
      B4DTN7, V9HWG3
    3. XM_054323960.1XP_054179935.1  protein-glutamine gamma-glutamyltransferase 2 isoform X2

      UniProtKB/Swiss-Prot
      E1P5V9, P21980, Q16436, Q6B838, Q9BTN7, Q9H035, Q9UH35
      UniProtKB/TrEMBL
      B4DTN7, V9HWG3