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, an... See more...

Aliases for TGM2 Gene

Aliases for TGM2 Gene

  • Transglutaminase 2 2 3 5
  • C Polypeptide, Protein-Glutamine-Gamma-Glutamyltransferase 2 3
  • Protein-Glutamine Gamma-Glutamyltransferase 2 3 4
  • Tissue Transglutaminase 3 4
  • Transglutaminase C 3 4
  • Transglutaminase H 3 4
  • EC 2.3.2.13 4 52
  • TGase C 3 4
  • TGase H 3 4
  • TGase-2 3 4
  • TG(C) 3 4
  • TGC 3 4
  • Transglutaminase 2 (C Polypeptide, Protein-Glutamine-Gamma-Glutamyltransferase) 2
  • Transglutaminase-2 4

External Ids for TGM2 Gene

Previous GeneCards Identifiers for TGM2 Gene

  • GC20M036486
  • GC20M037395
  • GC20M037442
  • GC20M036190
  • GC20M036756
  • GC20M033493

Summaries for TGM2 Gene

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 Dermatitis Herpetiformis and Balanitis Xerotica Obliterans. Among its related pathways are Phospholipase-C Pathway and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Gene Ontology (GO) annotations related to this gene include GTP binding and protein-glutamine gamma-glutamyltransferase activity. An important paralog of this gene is TGM5.

UniProtKB/Swiss-Prot Summary for TGM2 Gene

  • Catalyzes the cross-linking of proteins, such as WDR54, and the conjugation of polyamines to proteins.

Gene Wiki entry for TGM2 Gene

Additional gene information for TGM2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TGM2 Gene

Genomics for TGM2 Gene

GeneHancer (GH) Regulatory Elements for TGM2 Gene

Promoters and enhancers for TGM2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TGM2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TGM2

Top Transcription factor binding sites by QIAGEN in the TGM2 gene promoter:
  • COUP
  • COUP-TF
  • COUP-TF1
  • HNF-4alpha1
  • STAT1

Genomic Locations for TGM2 Gene

Genomic Locations for TGM2 Gene
chr20:38,127,385-38,166,578
(GRCh38/hg38)
Size:
39,194 bases
Orientation:
Minus strand
chr20:36,756,863-36,794,980
(GRCh37/hg19)
Size:
38,118 bases
Orientation:
Minus strand

Genomic View for TGM2 Gene

Genes around TGM2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TGM2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TGM2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TGM2 Gene

Proteins for TGM2 Gene

  • Protein details for TGM2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P21980-TGM2_HUMAN
    Recommended name:
    Protein-glutamine gamma-glutamyltransferase 2
    Protein Accession:
    P21980
    Secondary Accessions:
    • E1P5V9
    • Q16436
    • Q6B838
    • Q9BTN7
    • Q9H035
    • Q9UH35

    Protein attributes for TGM2 Gene

    Size:
    687 amino acids
    Molecular mass:
    77329 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for TGM2 Gene

    Alternative splice isoforms for TGM2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TGM2 Gene

Selected DME Specific Peptides for TGM2 Gene

P21980:
  • DPTPQEKSEGTYCCGPV
  • WNFGQFE
  • NSAHDQNSNLLIEYFRNE
  • GFIYQGS
  • WNFHCWVESWM
  • YKYPEGS
  • LVVRRGQ
  • WMTRPDL
  • GRWDNNY
  • KYDAPFVFAEVNAD
  • ISTKSVGRD
  • GWQALDPTPQEKSEG
  • LEASTGYQGSSF
  • YGQCWVFA

Post-translational modifications for TGM2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TGM2 Gene

Antibody Products

Domains & Families for TGM2 Gene

Gene Families for TGM2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for TGM2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ58187, highly similar to Protein-glutamine gamma-glutamyltransferase 2(EC 2.3.2.13) (B4DIT7_HUMAN)
  • TGM2 protein (Q6DKH2_HUMAN)
  • Tissue transglutaminase (Q9BXQ0_HUMAN)
  • Transglutaminase-2 (TGM2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P21980

UniProtKB/Swiss-Prot:

TGM2_HUMAN :
  • Belongs to the transglutaminase superfamily. Transglutaminase family.
Family:
  • Belongs to the transglutaminase superfamily. Transglutaminase family.
genes like me logo Genes that share domains with TGM2: view

Function for TGM2 Gene

Molecular function for TGM2 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the cross-linking of proteins, such as WDR54, and the conjugation of polyamines to proteins.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-glutaminyl-[protein] + L-lysyl-[protein] = [protein]-L-lysyl-N(6)-5-L-glutamyl-[protein] + NH4(+); Xref=Rhea:RHEA:54816, Rhea:RHEA-COMP:9752, Rhea:RHEA-COMP:10207, Rhea:RHEA-COMP:14005, ChEBI:CHEBI:28938, ChEBI:CHEBI:29969, ChEBI:CHEBI:30011, ChEBI:CHEBI:138370; EC=2.3.2.13; Evidence=. ;.
UniProtKB/Swiss-Prot Induction:
By retinoic acid.
GENATLAS Biochemistry:
transglutaminase,C polypeptide,tissue,type II (80kDa),cytoplasmic,ubiquitous,interacting with huntingtin

Enzyme Numbers (IUBMB) for TGM2 Gene

Phenotypes From GWAS Catalog for TGM2 Gene

Gene Ontology (GO) - Molecular Function for TGM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003810 protein-glutamine gamma-glutamyltransferase activity IBA,ISS --
GO:0005515 protein binding IPI 9442029
GO:0005525 GTP binding IEA --
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA --
genes like me logo Genes that share ontologies with TGM2: view
genes like me logo Genes that share phenotypes with TGM2: view

Animal Models for TGM2 Gene

MGI Knock Outs for TGM2:

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for TGM2

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TGM2 Gene

Localization for TGM2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TGM2 gene
Compartment Confidence
plasma membrane 5
mitochondrion 5
cytosol 5
nucleus 4
extracellular 3
endoplasmic reticulum 3
cytoskeleton 2
endosome 2
lysosome 2
golgi apparatus 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TGM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA,IDA 24349085
GO:0005783 endoplasmic reticulum IEA --
GO:0005829 cytosol IDA 24349085
genes like me logo Genes that share ontologies with TGM2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for TGM2 Gene

Pathways & Interactions for TGM2 Gene

genes like me logo Genes that share pathways with TGM2: view

Pathways by source for TGM2 Gene

1 BioSystems pathway for TGM2 Gene
1 KEGG pathway for TGM2 Gene
1 GeneGo (Thomson Reuters) pathway for TGM2 Gene
  • Development Activation of ERK by Alpha-1 adrenergic receptors
2 Qiagen pathways for TGM2 Gene
  • Activation of PKC through GPCR
  • Phospholipase-C Pathway
1 Cell Signaling Technology pathway for TGM2 Gene
1 GeneTex pathway for TGM2 Gene

SIGNOR curated interactions for TGM2 Gene

Activates:

Gene Ontology (GO) - Biological Process for TGM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001974 blood vessel remodeling IEA --
GO:0007200 phospholipase C-activating G protein-coupled receptor signaling pathway IEA --
GO:0018149 peptide cross-linking IDA,IEA 30458214
GO:0018153 isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine IEA --
GO:0032471 negative regulation of endoplasmic reticulum calcium ion concentration IMP 24349085
genes like me logo Genes that share ontologies with TGM2: view

Drugs & Compounds for TGM2 Gene

(20) Drugs for TGM2 Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Glutamine Approved, Investigational Nutra Full agonist, Agonist, Enzyme, substrate 0
Calcium Approved Nutra 7884
Hexylresorcinol Approved Pharma Target, inhibitor 0
Ammonia Approved Pharma 0
Guanosine diphosphate Experimental Pharma Target 0

(17) Additional Compounds for TGM2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for TGM2 Gene

Compound Action Cas Number
Cystamine dihydrochloride 56-17-7
genes like me logo Genes that share compounds with TGM2: view

Drug Products

Transcripts for TGM2 Gene

mRNA/cDNA for TGM2 Gene

5 REFSEQ mRNAs :
25 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for TGM2

Alternative Splicing Database (ASD) splice patterns (SP) for TGM2 Gene

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: - - - - - - - - -
SP6: - - - - - - - - - -
SP7: - - - - - - - -
SP8: - - - - - - - - - - - - - - - - - - -
SP9: - - - - - - -
SP10: - -
SP11: - - - - - - - - - - - -
SP12: - - - - - - -
SP13: - - - - - - - -
SP14: - -
SP15: - -
SP16: - - - - - -
SP17:
SP18:
SP19: - -

ExUns: 11a · 11b · 11c ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16a · 16b · 16c ^ 17 ^ 18a · 18b
SP1: - - -
SP2: - - -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8: - - - - - - - -
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:

Relevant External Links for TGM2 Gene

GeneLoc Exon Structure for
TGM2

Expression for TGM2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TGM2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TGM2 Gene

This gene is overexpressed in Artery - Coronary (x8.6) and Artery - Tibial (x6.7).

Protein differential expression in normal tissues from HIPED for TGM2 Gene

This gene is overexpressed in Urinary Bladder (9.5), Gallbladder (9.1), and Placenta (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TGM2 Gene



Protein tissue co-expression partners for TGM2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TGM2

SOURCE GeneReport for Unigene cluster for TGM2 Gene:

Hs.517033

Evidence on tissue expression from TISSUES for TGM2 Gene

  • Kidney(4.9)
  • Liver(4.9)
  • Lung(4.9)
  • Nervous system(4.9)
  • Heart(4.6)
  • Lymph node(4.4)
  • Pancreas(3.9)
  • Intestine(3.6)
  • Eye(3.5)
  • Muscle(2.9)
  • Blood(2.6)
  • Skin(2.4)
  • Thyroid gland(2.4)
  • Gall bladder(2.1)
  • Stomach(2.1)
genes like me logo Genes that share expression patterns with TGM2: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TGM2 Gene

Orthologs for TGM2 Gene

This gene was present in the common ancestor of animals.

Orthologs for TGM2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TGM2 31 30
  • 98.25 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TGM2 31 30
  • 87.97 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TGM2 31 30
  • 86.51 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tgm2 30
  • 83.28 (n)
mouse
(Mus musculus)
Mammalia Tgm2 17 31 30
  • 83.04 (n)
oppossum
(Monodelphis domestica)
Mammalia TGM2 31
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TGM2 31
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves TGM2 31 30
  • 69.39 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 61 (a)
OneToMany
-- 31
  • 60 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia tgm2 30
  • 64.43 (n)
African clawed frog
(Xenopus laevis)
Amphibia tgm2-prov 30
zebrafish
(Danio rerio)
Actinopterygii tgm2b 31 30
  • 60.31 (n)
OneToMany
tgm2a 31
  • 48 (a)
OneToMany
Dr.16524 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8978 30
fruit fly
(Drosophila melanogaster)
Insecta CG7356 32
  • 34 (a)
Tg 31
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea Cin.2702 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2702 30
Species where no ortholog for TGM2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TGM2 Gene

ENSEMBL:
Gene Tree for TGM2 (if available)
TreeFam:
Gene Tree for TGM2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TGM2: view image

Paralogs for TGM2 Gene

Paralogs for TGM2 Gene

(10) SIMAP similar genes for TGM2 Gene using alignment to 7 proteins:

  • TGM2_HUMAN
  • A2A299_HUMAN
  • A2A2A0_HUMAN
  • B4DIT7_HUMAN
  • F5H6P0_HUMAN
  • Q6DKH2_HUMAN
  • Q9BXQ0_HUMAN
genes like me logo Genes that share paralogs with TGM2: view

Variants for TGM2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TGM2 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
VAR_036554 A colorectal cancer sample p.Gly660Val
rs141603506 - p.Met330Arg
rs41274720 - p.Arg76His
rs45530133 - p.Arg214His
rs45556333 - p.Pro536Ser

Additional dbSNP identifiers (rs#s) for TGM2 Gene

Structural Variations from Database of Genomic Variants (DGV) for TGM2 Gene

Variant ID Type Subtype PubMed ID
dgv4308n100 CNV gain 25217958
esv2763659 CNV gain 21179565
esv29167 CNV gain 19812545
esv3893333 CNV loss 25118596
nsv1057334 CNV loss 25217958
nsv585963 CNV gain 21841781
nsv833972 CNV loss 17160897

Variation tolerance for TGM2 Gene

Residual Variation Intolerance Score: 65.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.35; 53.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TGM2 Gene

Human Gene Mutation Database (HGMD)
TGM2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TGM2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TGM2 Gene

Disorders for TGM2 Gene

MalaCards: The human disease database

(52) MalaCards diseases for TGM2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
dermatitis herpetiformis
  • dh
balanitis xerotica obliterans
  • penile lichen sclerosus
balanitis
autoimmune disease of gastrointestinal tract
celiac disease 1
  • celiac disease, susceptibility to, 1
- elite association - COSMIC cancer census association via MalaCards
Search TGM2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TGM2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TGM2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TGM2 Gene

Publications for TGM2 Gene

  1. Missense mutations in the TGM2 gene encoding transglutaminase 2 are found in patients with early-onset type 2 diabetes. Mutation in brief no. 982. Online. (PMID: 17939176) Porzio O … Barbetti F (Human mutation 2007) 3 4 23 41 54
  2. The TGM2 gene is associated with schizophrenia in a British population. (PMID: 18561261) Bradford M … Wei J (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009) 3 23 41 54
  3. Transglutaminase 2 undergoes a large conformational change upon activation. (PMID: 18092889) Pinkas DM … Khosla C (PLoS biology 2007) 3 4 23 54
  4. Germline mutations in TGM2 do not contribute to coeliac disease susceptibility in the Swedish population. (PMID: 11742196) Popat S … Houlston RS (European journal of gastroenterology & hepatology 2001) 3 23 41 54
  5. Transglutaminase-mediated cross-linking of WDR54 regulates EGF receptor-signaling. (PMID: 30458214) Maeda A … Konishi H (Biochimica et biophysica acta. Molecular cell research 2019) 3 4 54

Products for TGM2 Gene