Free for academic non-profit institutions. Other users need a Commercial license
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]
TGM2 (Transglutaminase 2) is a Protein Coding gene. Diseases associated with TGM2 include Dermatitis Herpetiformis and Balanitis Xerotica Obliterans. Among its related pathways are Ca, cAMP and Lipid Signaling and CREB 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.
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 | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005739 | mitochondrion | IEA,IDA | 24349085 |
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005829 | cytosol | IDA | 24349085 |
GO:0005886 | plasma membrane | IEA,IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Ca, cAMP and Lipid Signaling | ||
2 | Pathways of neurodegeneration - multiple diseases | ||
3 | CREB Pathway |
Activation of PKC through GPCR
.63
|
|
4 | Phospholipase-C Pathway |
Phospholipase-C Pathway
.56
|
|
5 | Translation Translation regulation by Alpha-1 adrenergic receptors |
Development Activation of ERK by Alpha-1 adrenergic receptors
.64
|
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,IDA | 30458214 |
GO:0018153 | isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine | IEA | -- |
GO:0018215 | protein phosphopantetheinylation | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
Compound | Action | Cas Number |
---|---|---|
Cystamine dihydrochloride | 56-17-7 |
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: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TGM2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TGM2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TGM2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tgm2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Tgm2 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | TGM2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | TGM2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TGM2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tgm2 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | tgm2-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | tgm2b 30 31 |
|
OneToMany | |
tgm2a 31 |
|
OneToMany | |||
Dr.16524 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.8978 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG7356 32 |
|
|
|
Tg 31 |
|
OneToMany | |||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.2702 30 |
|
SNP ID | Clinical significance and condition | Chr 20 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1196349668 | Likely Benign: not provided | 38,141,342(-) |
G/A NM_004613.4(TGM2):c.1039C>T (p.Leu347=) |
SYNONYMOUS | |
rs140171902 | Likely Benign: not provided | 38,138,189(-) |
G/A NM_004613.4(TGM2):c.1539C>T (p.Thr513=) |
SYNONYMOUS | |
rs142987627 | Likely Benign: not provided | 38,142,144(-) |
A/G NM_004613.4(TGM2):c.915T>C (p.His305=) |
SYNONYMOUS | |
rs143580997 | Benign: not provided | 38,131,101(-) |
C/T NM_004613.4(TGM2):c.1905G>A (p.Thr635=) |
SYNONYMOUS | |
rs144476788 | Benign: not provided | 38,156,067(-) |
G/A NM_004613.4(TGM2):c.213C>T (p.Ala71=) |
SYNONYMOUS_VARIANT,INTRON |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
dermatitis herpetiformis |
|
|
balanitis xerotica obliterans |
|
|
balanitis |
|
|
huntington disease |
|
|
celiac disease 1 |
|
|