The gene encompasses 36838bp; 13 exons; a dense CpG island engulfs exon 1 and the transcriptional start site; negative strand.

Two transcript variants 1) 3937bp; 2) 2326bp (C-terminal truncation exons 11-13); induced by NFkB, retinoic acid, IL-6, TGF-beta1, HRE, AP-1 and GRE.

687 amino acids; 78 kilodaltons; monomer.

Ubiquitously expressed.

Mostly intracellular (cytosol, nucleus and cell membrane); extracellular.

Multifunctional enzyme with transglutaminase crosslinking activity (catalyze covalant bonds between the ε-amino group of a lysine and the γ-carboxyl group of a glutamine residue) stabilizing the extracellular matrix (ECM) and cell-ECM interaction; require Ca2+ for catalytic activity; inhibited by GTP; under stress (loss of Ca2+) may play a role in apoptosis; involved in wound healing and inflammation ; aberrent overexpression of TG2 is linked to chemotherapeutic drug resistance.

No germinal mutations have been identified; low frequency of SNPs.

No somatic mutations have been identified in cancer; can be transcriptionally silenced by CpG methylation in cancer (breast and brain); overexpression in many cancers; 3 missense mutations identified in early-onset type 2 diabetes patients (c.989T>G, c.992T>A, c.998A>G).