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Aliases for TGM2 Gene

Aliases for TGM2 Gene

  • Transglutaminase 2 2 3 5
  • C Polypeptide, Protein-Glutamine-Gamma-Glutamyltransferase 2 3
  • Tissue Transglutaminase 3 4
  • Transglutaminase C 3 4
  • Transglutaminase H 3 4
  • EC 2.3.2.13 4 56
  • 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
  • Protein-Glutamine Gamma-Glutamyltransferase 2 3
  • 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 Balanitis Xerotica Obliterans and Balanitis. Among its related pathways are Thromboxane A2 receptor signaling and Phospholipase-C Pathway. 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 for TGM2 Gene

  • Catalyzes the cross-linking of proteins 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 , fRNAdb sequence ontologies and piRNA Summary for TGM2 Gene

Genomics for TGM2 Gene

GeneHancer (GH) Regulatory Elements for TGM2 Gene

Promoters and enhancers for TGM2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20I038139 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 560.8 +10.6 10588 33.6 MLX ZFP64 YBX1 DMAP1 YY1 SLC30A9 ZNF143 MCM3 SP3 NFYC TGM2 SNHG17 RALGAPB ACTR5 RN7SKP173 SNORA71A TTI1 SNORA71C RPN2 DHX35
GH20I038107 Enhancer 1.4 Ensembl ENCODE dbSUPER 31.7 +56.7 56708 4 HDGF PKNOX1 FOXA2 ARID4B SIN3A FEZF1 ZNF766 FOS SP5 MXD4 TGM2 VSTM2L ENSG00000277550 RPRD1B
GH20I038082 Enhancer 1.4 Ensembl ENCODE dbSUPER 31.7 +81.8 81834 4.8 PKNOX1 FOXA2 MLX ARID4B DMAP1 ETS1 SLC30A9 TCF12 ZNF766 GATA2 TGM2 RPRD1B VSTM2L TTI1 GC20P038089 GC20M038052
GH20I037985 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 19.4 +176.8 176846 8.1 HDGF PKNOX1 FOXA2 ARID4B IRF4 YY1 TCF12 ATF7 RUNX3 RXRA TGM2 VSTM2L RPRD1B TTI1 RALGAPB NNAT GC20M037976 RN7SKP185 GC20M037959
GH20I038124 Enhancer 1.4 Ensembl ENCODE dbSUPER 20.8 +39.0 39027 5.7 PKNOX1 SMAD1 FOXA2 ARNT ARID4B ZNF766 ZNF143 FOS SP5 REST TGM2 ENSG00000224635 SNORA71A SNORA71B ENSG00000277550 RPRD1B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TGM2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TGM2 gene promoter:

Genomic Locations for TGM2 Gene

Genomic Locations for TGM2 Gene
chr20:38,127,387-38,166,578
(GRCh38/hg38)
Size:
39,192 bases
Orientation:
Minus strand
chr20:36,756,863-36,794,980
(GRCh37/hg19)

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

  • R&D Systems Antibodies for TGM2 (Transglutaminase 2/TGM2)

Domains & Families for TGM2 Gene

Gene Families for TGM2 Gene

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

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

GENATLAS Biochemistry:
transglutaminase,C polypeptide,tissue,type II (80kDa),cytoplasmic,ubiquitous,interacting with huntingtin
UniProtKB/Swiss-Prot CatalyticActivity:
A protein-L-glutamine + a protein-L-lysine = a protein with an N(6)-(gamma-glutamyl)-L-lysine cross-link + NH(3).
UniProtKB/Swiss-Prot Function:
Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins.
UniProtKB/Swiss-Prot Induction:
By retinoic acid.

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 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:

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
extracellular 5
mitochondrion 5
cytosol 5
nucleus 3
endoplasmic reticulum 3
cytoskeleton 2
lysosome 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:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IDA,IEA 24349085
GO:0005783 endoplasmic reticulum IEA --
GO:0005829 cytosol IDA 24349085
GO:0005886 plasma membrane IEA --
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 GeneTex pathway for TGM2 Gene
1 BioSystems pathway for TGM2 Gene
1 KEGG pathway for TGM2 Gene
1 GeneGo (Thomson Reuters) pathway for TGM2 Gene
1 Cell Signaling Technology 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 IEA --
GO:0018153 isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine IEA --
GO:0032471 negative regulation of endoplasmic reticulum calcium ion concentration IEA,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 0
Ammonia Approved Pharma 0
Guanosine diphosphate Experimental Pharma Target 0
Cystamine dihydrochloride Pharma 0

(16) 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

Unigene Clusters for TGM2 Gene

Transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase):
Representative Sequences:

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
ECgene alternative splicing isoforms for
TGM2

Expression for TGM2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for TGM2 Gene



Protein tissue co-expression partners for TGM2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TGM2 Gene:

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)
  • Eye(3.6)
  • Intestine(3.6)
  • 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 33 34
  • 98.25 (n)
cow
(Bos Taurus)
Mammalia TGM2 33 34
  • 87.97 (n)
dog
(Canis familiaris)
Mammalia TGM2 33 34
  • 86.51 (n)
rat
(Rattus norvegicus)
Mammalia Tgm2 33
  • 83.28 (n)
mouse
(Mus musculus)
Mammalia Tgm2 33 16 34
  • 83.04 (n)
oppossum
(Monodelphis domestica)
Mammalia TGM2 34
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TGM2 34
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves TGM2 33 34
  • 69.39 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 61 (a)
OneToMany
-- 34
  • 60 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia tgm2 33
  • 64.43 (n)
African clawed frog
(Xenopus laevis)
Amphibia tgm2-prov 33
zebrafish
(Danio rerio)
Actinopterygii tgm2b 33 34
  • 60.31 (n)
tgm2a 34
  • 48 (a)
OneToMany
Dr.16524 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8978 33
fruit fly
(Drosophila melanogaster)
Insecta CG7356 35
  • 34 (a)
Tg 34
  • 29 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2702 33
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)

Paralogs for TGM2 Gene

Paralogs for TGM2 Gene

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

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

Variants for TGM2 Gene

Sequence variations from dbSNP and Humsavar for TGM2 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
VAR_036554 A colorectal cancer sample p.Gly660Val
rs1000074361 -- 38,137,273(-) C/T genic_downstream_transcript_variant, intron_variant
rs1000081758 -- 38,137,473(-) CAAACAAACAAACAAAC/CAAACAAACAAAC downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant
rs1000181313 -- 38,165,411(-) G/C/T 5_prime_UTR_variant, intron_variant
rs1000259380 -- 38,157,280(-) C/T intron_variant

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

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

- 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 22 44 58
  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 22 44 58
  3. Transglutaminase 2 undergoes a large conformational change upon activation. (PMID: 18092889) Pinkas DM … Khosla C (PLoS biology 2007) 3 4 22 58
  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 22 44 58
  5. Transglutaminase 2, a novel regulator of eicosanoid production in asthma revealed by genome-wide expression profiling of distinct asthma phenotypes. (PMID: 20052409) Hallstrand TS … Henderson WR (PloS one 2010) 3 22 58

Products for TGM2 Gene

  • Addgene plasmids for TGM2

Sources for TGM2 Gene

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