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TGM2 transglutaminase 2 [ Homo sapiens (human) ]

Gene ID: 7052, updated on 13-Jan-2020

Summary

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Official Symbol
TGM2provided by HGNC
Official Full Name
transglutaminase 2provided by HGNC
Primary source
HGNC:HGNC:11778
See related
Ensembl:ENSG00000198959 MIM:190196
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]
Expression
Broad expression in placenta (RPKM 177.0), endometrium (RPKM 107.6) and 16 other tissues See more
Orthologs
mouse all

Genomic context

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See TGM2 in Genome Data Viewer
Location:
20q11.23
Exon count:
14
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (38127385..38166508, 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 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

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. HLA-DQ2 homozygosis increases tTGA levels at diagnosis but does not influence the clinical phenotype of coeliac disease: A multicentre study. Bajor J, et al. Int J Immunogenet, 2019 Apr. PMID 30779476
  2. Deamidated gliadin peptide in pediatric patients with moderately increased tissue transglutaminase; does it help? Dickerson JA, et al. Clin Chim Acta, 2019 May. PMID 30726722
  3. Structure of natural variant transglutaminase 2 reveals molecular basis of gaining stability and higher activity. Ha HJ, et al. PLoS One, 2018. PMID 30321187, Free PMC Article
  4. Allosteric inhibition site of transglutaminase 2 is unveiled in the N terminus. Kim N, et al. Amino Acids, 2018 Nov. PMID 30105541
  5. Relationships between Clinical Presentation, Serology, Histology, and Duodenal Deposits of Tissue Transglutaminase Antibodies in Pediatric Celiac Disease. Loberman-Nachum N, et al. Dig Dis, 2018. PMID 30016777

See all (434) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. MicroRNA214 suppresses the viability, migration and invasion of human colorectal carcinoma cells via targeting TGM2.
    Title: MicroRNA‑214 suppresses the viability, migration and invasion of human colorectal carcinoma cells via targeting transglutaminase 2.
  2. This study shows a significant gene dose effect in terms of tTGA level at diagnosis, but no significant association between HLA-DQB1*02 allele dose and the clinical outcomes in Celiac disease.
    Title: HLA-DQ2 homozygosis increases tTGA levels at diagnosis but does not influence the clinical phenotype of coeliac disease: A multicentre study.
  3. Significantly increased concentration in endometrial cancer (EC) as compared to healthy controls were found in case of CD44 antigen (CD44) , epithelial cell adhesion molecule (EpCAM) and transglutaminase 2 (TGM2).
    Title: CD44, TGM2 and EpCAM as novel plasma markers in endometrial cancer diagnosis.
  4. REVIEW: Tissue transglutaminase in the pathogenesis of heart failure
    Title: Tissue transglutaminase in the pathogenesis of heart failure.
  5. the anti-inflammatory mechanism that prevents neutrophils from adhering to endothelial cells is identified with TG2 S-nitrosylation at the endothelial cell-blood interface.
    Title: Endothelial cell-surface tissue transglutaminase inhibits neutrophil adhesion by binding and releasing nitric oxide.
  6. patients with moderately increased TTG-IgA, DGP screen lacks specificity and does not provide additional information about whether or not to biopsy
    Title: Deamidated gliadin peptide in pediatric patients with moderately increased tissue transglutaminase; does it help?
  7. TG2-expressing monocytes in MS patients have a more anti-inflammatory profile. Furthermore, TG2 mediates IL-4-induced anti-inflammatory status in THP-1 monocytes, adhesion, and cytoskeletal rearrangement in vitro.
    Title: Monocyte-derived tissue transglutaminase in multiple sclerosis patients: reflecting an anti-inflammatory status and function of the cells?
  8. Our preliminary findings using postmortem human brain samples found increases in TG2 mRNA and protein levels in the middle frontal gyrus of subjects with autism spectrum disorder.
    Title: Transglutaminase 2 Induces Deficits in Social Behavior in Mice.
  9. In this study, we characterized the putative natural form of TG2, TG2 (G224V), and through a new crystal structure of TG2 (G224V), we revealed how TG2 (G224V) gained stability and higher Ca2+-dependent activity than an artificial variant of TG2 (G224).
    Title: Structure of natural variant transglutaminase 2 reveals molecular basis of gaining stability and higher activity.
  10. The analysis of total RNA samples in GEO datasets from K562, HL-60, THP-1 and U937 cell lines, untreated or treated with TPA in replicated experiments confirmed our earlier results. These demonstrate correlation between LOC107987281 and TGM2 mRNA in the cell lines (K562, HL60 and THP-1) where increased levels of TGM2 mRNA are produced.
    Title: A long non-coding RNA inside the type 2 transglutaminase gene tightly correlates with the expression of its transcriptional variants.
Submit: New GeneRIF Correction See all GeneRIFs (351)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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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

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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 IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
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
  
Process Evidence Code Pubs
apoptotic cell clearance IDA
Inferred from Direct Assay
more info
 PubMed 
blood vessel remodeling IEA
Inferred from Electronic Annotation
more info
  
branching involved in salivary gland morphogenesis IEA
Inferred from Electronic Annotation
more info
  
isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine IEA
Inferred from Electronic Annotation
more info
  
negative regulation of endoplasmic reticulum calcium ion concentration IMP
Inferred from Mutant Phenotype
more info
 PubMed 
peptide cross-linking IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
peptide cross-linking IDA
Inferred from Direct Assay
more info
 PubMed 
positive regulation of I-kappaB kinase/NF-kappaB signaling IEA
Inferred from Electronic Annotation
more info
  
positive regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
positive regulation of cell adhesion ISS
Inferred from Sequence or Structural Similarity
more info
  
positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway IEA
Inferred from Electronic Annotation
more info
  
positive regulation of inflammatory response IEA
Inferred from Electronic Annotation
more info
  
positive regulation of mitochondrial calcium ion concentration IMP
Inferred from Mutant Phenotype
more info
 PubMed 
positive regulation of smooth muscle cell proliferation IEA
Inferred from Electronic Annotation
more info
  
protein homooligomerization IEA
Inferred from Electronic Annotation
more info
  
salivary gland cavitation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
cell IEA
Inferred from Electronic Annotation
more info
  
collagen-containing extracellular matrix HDA PubMed 
colocalizes_with collagen-containing extracellular matrix HDA PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
  
extracellular exosome HDA PubMed 
focal adhesion HDA 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 IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
  

General protein information

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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
XP_011527330.1

NCBI Reference Sequences (RefSeq)

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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_001323316.2 → NP_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:269 → 361
    TGc; Transglutaminase/protease-like homologues
    COG1305
    Location:271 → 369
    YebA; Transglutaminase-like enzyme, putative cysteine protease [Posttranslational modification, protein turnover, chaperones]
    pfam00868
    Location:6 → 120
    Transglut_N; Transglutaminase family
    pfam00927
    Location:587 → 686
    Transglut_C; Transglutaminase family, C-terminal ig like domain

  2. NM_001323317.2 → NP_001310246.1  protein-glutamine gamma-glutamyltransferase 2 isoform c

    Status: REVIEWED

    Source sequence(s)
    AK295775, AL031651, BQ011237
    UniProtKB/TrEMBL
    B4DIT7
    Conserved Domains (4) summary
    smart00460
    Location:188 → 280
    TGc; Transglutaminase/protease-like homologues
    COG1305
    Location:190 → 288
    YebA; Transglutaminase-like enzyme, putative cysteine protease [Posttranslational modification, protein turnover, chaperones]
    pfam00868
    Location:6 → 63
    Transglut_N; Transglutaminase family
    pfam00927
    Location:506 → 605
    Transglut_C; Transglutaminase family, C-terminal ig like domain

  3. NM_001323318.2 → NP_001310247.1  protein-glutamine gamma-glutamyltransferase 2 isoform d

    Status: REVIEWED

    Source sequence(s)
    AK300292, AL031651, BQ011237, EU794665, HY030430
    UniProtKB/TrEMBL
    B4DTN7, V9HWG3

  4. NM_004613.4 → NP_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
    P21980
    UniProtKB/TrEMBL
    V9HWG3
    Related
    ENSP00000355330.2, ENST00000361475.7
    Conserved Domains (4) summary
    smart00460
    Location:269 → 361
    TGc; Transglutaminase/protease-like homologues
    COG1305
    Location:271 → 369
    YebA; Transglutaminase-like enzyme, putative cysteine protease [Posttranslational modification, protein turnover, chaperones]
    pfam00868
    Location:6 → 120
    Transglut_N; Transglutaminase family
    pfam00927
    Location:587 → 686
    Transglut_C; Transglutaminase family, C-terminal ig like domain

  5. NM_198951.3 → NP_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
    Conserved Domains (3) summary
    smart00460
    Location:269 → 361
    TGc; Transglutaminase/protease-like homologues
    pfam00868
    Location:4 → 122
    Transglut_N; Transglutaminase family
    pfam00927
    Location:473 → 538
    Transglut_C; Transglutaminase family, C-terminal ig like domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    38127385..38166508 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011529028.1 → XP_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:269 → 361
    TGc; Transglutaminase/protease-like homologues
    COG1305
    Location:271 → 369
    YebA; Transglutaminase-like enzyme, putative cysteine protease [Posttranslational modification, protein turnover, chaperones]
    pfam00868
    Location:6 → 120
    Transglut_N; Transglutaminase family
    pfam00927
    Location:587 → 686
    Transglut_C; Transglutaminase family, C-terminal ig like domain
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P21980.2 GenPept UniProtKB/Swiss-Prot:P21980

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