TGM2
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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
transglutaminase 2 | MIM:190196 | Ensembl:ENSG00000198959 | HGNC:HGNC:11778 | PA36491 | 20q11.23 |
Gene Categories:
DRUGGABLE GENOMEGO terms in TGM2
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
CC | IDA | GO:0005739 | mitochondrion |
CC | IEA | GO:0005783 | endoplasmic reticulum |
CC | IDA | GO:0005829 | cytosol |
CC | HDA | GO:0005925 | focal adhesion |
CC | IDA | GO:0031226 | intrinsic component of plasma membrane |
CC | IMP | GO:0031226 | intrinsic component of plasma membrane |
CC | HDA | GO:0062023 | collagen-containing extracellular matrix |
CC | HDA | GO:0070062 | extracellular exosome |
BP | IEA | GO:0001974 | blood vessel remodeling |
BP | IEA | GO:0018153 | isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine |
BP | IMP | GO:0032471 | negative regulation of endoplasmic reticulum calcium ion concentration |
BP | IMP | GO:0043065 | positive regulation of apoptotic process |
BP | IEA | GO:0043123 | positive regulation of I-kappaB kinase/NF-kappaB signaling |
BP | IDA | GO:0043277 | apoptotic cell clearance |
BP | ISS | GO:0045785 | positive regulation of cell adhesion |
BP | IEA | GO:0048661 | positive regulation of smooth muscle cell proliferation |
BP | IEA | GO:0050729 | positive regulation of inflammatory response |
BP | IEA | GO:0051260 | protein homooligomerization |
BP | IEA | GO:0051482 | positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway |
BP | IMP | GO:0051561 | positive regulation of mitochondrial calcium ion concentration |
BP | IEA | GO:0060445 | branching involved in salivary gland morphogenesis |
BP | IEA | GO:0060662 | salivary gland cavitation |
MF | IMP | GO:0003810 | protein-glutamine gamma-glutamyltransferase activity |
MF | ISS | GO:0003810 | protein-glutamine gamma-glutamyltransferase activity |
MF | IPI | GO:0005515 | protein binding |
MF | IEA | GO:0005525 | GTP binding |
MF | IEA | GO:0019904 | protein domain specific binding |
MF | IEA | GO:0046872 | metal ion binding |
Gene expression in normal tissue: TGM2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in TGM2
Database | Pathway ID | Pathway Des. |
---|---|---|
pid | integrin1_pathway | Beta1 integrin cell surface interactions |
pid | integrin_a9b1_pathway | Alpha9 beta1 integrin signaling events |
pid | txa2pathway | Thromboxane A2 receptor signaling |
kegg | hsa05016 | Huntington,s disease - Homo sapiens (human) |
biocarta | plcdpathway | phospholipase c delta in phospholipid associated cell signaling |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in TGM2