Description: Homo sapiens transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM2), transcript variant 1, mRNA. RefSeq Summary (NM_004613): 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]. Transcript (Including UTRs) Position: hg19 chr20:36,756,864-36,793,700 Size: 36,837 Total Exon Count: 13 Strand: - Coding Region Position: hg19 chr20:36,758,621-36,793,600 Size: 34,980 Coding Exon Count: 13
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): TGM2 CDC HuGE Published Literature: TGM2 Positive Disease Associations: schizophrenia Related Studies:
schizophrenia Matilda Bradford , et al. American journal of medical genetics 2009 150B(3):335-40, The TGM2 gene is associated with schizophrenia in a British population., American journal of medical genetics 2009 150B(3):335-40.
[PubMed 18561261]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P21980
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0003810 protein-glutamine gamma-glutamyltransferase activity GO:0005515 protein binding GO:0005525 GTP binding GO:0016740 transferase activity GO:0016746 transferase activity, transferring acyl groups GO:0019904 protein domain specific binding GO:0046872 metal ion binding
Biological Process: GO:0001974 blood vessel remodeling GO:0007200 phospholipase C-activating G-protein coupled receptor signaling pathway GO:0018149 peptide cross-linking GO:0018153 isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine GO:0032471 negative regulation of endoplasmic reticulum calcium ion concentration GO:0043065 positive regulation of apoptotic process GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043277 apoptotic cell clearance GO:0045785 positive regulation of cell adhesion GO:0048661 positive regulation of smooth muscle cell proliferation GO:0050729 positive regulation of inflammatory response GO:0051260 protein homooligomerization GO:0051482 positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway GO:0051561 positive regulation of mitochondrial calcium ion concentration GO:0060445 branching involved in salivary gland morphogenesis GO:0060662 salivary gland cavitation
BC073946 - Homo sapiens transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase), mRNA (cDNA clone IMAGE:5405599), partial cds. EU794665 - Homo sapiens epididymis secretory protein Li 45 (HEL-S-45) mRNA, complete cds. JA482045 - Sequence 28 from Patent WO2011072091. JE980337 - Sequence 28 from Patent EP2862929. M98479 - Human transglutaminase mRNA, 3' untranslated region. AK126508 - Homo sapiens cDNA FLJ44544 fis, clone UTERU3005907. AK058031 - Homo sapiens cDNA FLJ25302 fis, clone STM07845, highly similar to PROTEIN-GLUTAMINE GAMMA-GLUTAMYLTRANSFERASE (EC 2.3.2.13). JD044575 - Sequence 25599 from Patent EP1572962. M55153 - Human transglutaminase (TGase) mRNA, complete cds. JD091700 - Sequence 72724 from Patent EP1572962. JD537608 - Sequence 518632 from Patent EP1572962. JD422987 - Sequence 404011 from Patent EP1572962. JD060109 - Sequence 41133 from Patent EP1572962. JD481941 - Sequence 462965 from Patent EP1572962. JD037974 - Sequence 18998 from Patent EP1572962. JD563696 - Sequence 544720 from Patent EP1572962. JD419179 - Sequence 400203 from Patent EP1572962. JD278176 - Sequence 259200 from Patent EP1572962. JD209791 - Sequence 190815 from Patent EP1572962. JD209790 - Sequence 190814 from Patent EP1572962. JD126893 - Sequence 107917 from Patent EP1572962. JD163386 - Sequence 144410 from Patent EP1572962. JD206544 - Sequence 187568 from Patent EP1572962. JD498528 - Sequence 479552 from Patent EP1572962. JD365116 - Sequence 346140 from Patent EP1572962. JD284961 - Sequence 265985 from Patent EP1572962. JD078648 - Sequence 59672 from Patent EP1572962. AK291714 - Homo sapiens cDNA FLJ78717 complete cds, highly similar to Homo sapiens transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM2), transcript variant 1, mRNA. JD554674 - Sequence 535698 from Patent EP1572962. JD371513 - Sequence 352537 from Patent EP1572962. JD038482 - Sequence 19506 from Patent EP1572962. JD038481 - Sequence 19505 from Patent EP1572962. JD026039 - Sequence 7063 from Patent EP1572962. JD053164 - Sequence 34188 from Patent EP1572962. JD485187 - Sequence 466211 from Patent EP1572962. JD030929 - Sequence 11953 from Patent EP1572962. AK295775 - Homo sapiens cDNA FLJ58187 complete cds, highly similar to Protein-glutamine gamma-glutamyltransferase 2(EC 2.3.2.13). JD189939 - Sequence 170963 from Patent EP1572962. JD195121 - Sequence 176145 from Patent EP1572962. JD070395 - Sequence 51419 from Patent EP1572962. JD172087 - Sequence 153111 from Patent EP1572962. JD384155 - Sequence 365179 from Patent EP1572962. AK300292 - Homo sapiens cDNA FLJ57198 complete cds, highly similar to Protein-glutamine gamma-glutamyltransferase 2 (EC 2.3.2.13). JD123393 - Sequence 104417 from Patent EP1572962. JD215117 - Sequence 196141 from Patent EP1572962. JD242061 - Sequence 223085 from Patent EP1572962. JD459593 - Sequence 440617 from Patent EP1572962. JD406246 - Sequence 387270 from Patent EP1572962. AY675221 - Homo sapiens transglutaminase 2 mRNA, complete cds. AK314618 - Homo sapiens cDNA, FLJ95459, highly similar to Homo sapiens transglutaminase 2 (C polypeptide,protein-glutamine-gamma-glutamyltransferase) (TGM2), mRNA. AB527414 - Synthetic construct DNA, clone: pF1KB4057, Homo sapiens TGM2 gene for transglutaminase 2, without stop codon, in Flexi system. AL512703 - Homo sapiens mRNA; cDNA DKFZp667H046 (from clone DKFZp667H046). JA482046 - Sequence 29 from Patent WO2011072091. JE980338 - Sequence 29 from Patent EP2862929. M98478 - Human transglutaminase mRNA, complete cds. AF311286 - Homo sapiens tissue transglutaminase (TGM2) mRNA, partial cds. BC003551 - Homo sapiens transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase), mRNA (cDNA clone MGC:1193 IMAGE:3544757), complete cds. JF432824 - Synthetic construct Homo sapiens clone IMAGE:100074142 transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM2) gene, encodes complete protein. KJ897667 - Synthetic construct Homo sapiens clone ccsbBroadEn_07061 TGM2 gene, encodes complete protein. KR709868 - Synthetic construct Homo sapiens clone CCSBHm_00007047 TGM2 (TGM2) mRNA, encodes complete protein. KR709869 - Synthetic construct Homo sapiens clone CCSBHm_00007048 TGM2 (TGM2) mRNA, encodes complete protein. DJ417866 - OLIGORIBONUCLEOTIDES AND METHODS OF USE THEREOF FOR TREATMENT OF FIBROTIC CONDITIONS AND OTHER DISEASES. HV530982 - JP 2011172579-A/357: OLIGORIBONUCLEOTIDES AND METHODS OF USE THEREOF FOR TREATMENT OF FIBROTIC CONDITIONS AND OTHER DISEASES. JC444405 - Sequence 358 from Patent EP2330111. DJ417888 - OLIGORIBONUCLEOTIDES AND METHODS OF USE THEREOF FOR TREATMENT OF FIBROTIC CONDITIONS AND OTHER DISEASES. HV531004 - JP 2011172579-A/379: OLIGORIBONUCLEOTIDES AND METHODS OF USE THEREOF FOR TREATMENT OF FIBROTIC CONDITIONS AND OTHER DISEASES. JC444427 - Sequence 380 from Patent EP2330111. DJ417869 - OLIGORIBONUCLEOTIDES AND METHODS OF USE THEREOF FOR TREATMENT OF FIBROTIC CONDITIONS AND OTHER DISEASES. HV530985 - JP 2011172579-A/360: OLIGORIBONUCLEOTIDES AND METHODS OF USE THEREOF FOR TREATMENT OF FIBROTIC CONDITIONS AND OTHER DISEASES. JC444408 - Sequence 361 from Patent EP2330111. DJ417870 - OLIGORIBONUCLEOTIDES AND METHODS OF USE THEREOF FOR TREATMENT OF FIBROTIC CONDITIONS AND OTHER DISEASES. HV530986 - JP 2011172579-A/361: OLIGORIBONUCLEOTIDES AND METHODS OF USE THEREOF FOR TREATMENT OF FIBROTIC CONDITIONS AND OTHER DISEASES. JC444409 - Sequence 362 from Patent EP2330111. DJ417857 - OLIGORIBONUCLEOTIDES AND METHODS OF USE THEREOF FOR TREATMENT OF FIBROTIC CONDITIONS AND OTHER DISEASES. HV530973 - JP 2011172579-A/348: OLIGORIBONUCLEOTIDES AND METHODS OF USE THEREOF FOR TREATMENT OF FIBROTIC CONDITIONS AND OTHER DISEASES. JC444396 - Sequence 349 from Patent EP2330111. DJ417864 - OLIGORIBONUCLEOTIDES AND METHODS OF USE THEREOF FOR TREATMENT OF FIBROTIC CONDITIONS AND OTHER DISEASES. HV530980 - JP 2011172579-A/355: OLIGORIBONUCLEOTIDES AND METHODS OF USE THEREOF FOR TREATMENT OF FIBROTIC CONDITIONS AND OTHER DISEASES. JC444403 - Sequence 356 from Patent EP2330111. S81734 - tissue transglutaminase homologue {alternatively spliced} [human, erythroleukemia cell line HEL GM06141A, mRNA, 2362 nt]. DJ417867 - OLIGORIBONUCLEOTIDES AND METHODS OF USE THEREOF FOR TREATMENT OF FIBROTIC CONDITIONS AND OTHER DISEASES. HV530983 - JP 2011172579-A/358: OLIGORIBONUCLEOTIDES AND METHODS OF USE THEREOF FOR TREATMENT OF FIBROTIC CONDITIONS AND OTHER DISEASES. JC444406 - Sequence 359 from Patent EP2330111. DJ417856 - OLIGORIBONUCLEOTIDES AND METHODS OF USE THEREOF FOR TREATMENT OF FIBROTIC CONDITIONS AND OTHER DISEASES. HV530972 - JP 2011172579-A/347: OLIGORIBONUCLEOTIDES AND METHODS OF USE THEREOF FOR TREATMENT OF FIBROTIC CONDITIONS AND OTHER DISEASES. JC444395 - Sequence 348 from Patent EP2330111. DJ417853 - OLIGORIBONUCLEOTIDES AND METHODS OF USE THEREOF FOR TREATMENT OF FIBROTIC CONDITIONS AND OTHER DISEASES. HV530969 - JP 2011172579-A/344: OLIGORIBONUCLEOTIDES AND METHODS OF USE THEREOF FOR TREATMENT OF FIBROTIC CONDITIONS AND OTHER DISEASES. JC444392 - Sequence 345 from Patent EP2330111. CU678490 - Synthetic construct Homo sapiens gateway clone IMAGE:100020336 5' read TGM2 mRNA. DJ417858 - OLIGORIBONUCLEOTIDES AND METHODS OF USE THEREOF FOR TREATMENT OF FIBROTIC CONDITIONS AND OTHER DISEASES. HV530974 - JP 2011172579-A/349: OLIGORIBONUCLEOTIDES AND METHODS OF USE THEREOF FOR TREATMENT OF FIBROTIC CONDITIONS AND OTHER DISEASES. JC444397 - Sequence 350 from Patent EP2330111. DJ417855 - OLIGORIBONUCLEOTIDES AND METHODS OF USE THEREOF FOR TREATMENT OF FIBROTIC CONDITIONS AND OTHER DISEASES. HV530971 - JP 2011172579-A/346: OLIGORIBONUCLEOTIDES AND METHODS OF USE THEREOF FOR TREATMENT OF FIBROTIC CONDITIONS AND OTHER DISEASES. JC444394 - Sequence 347 from Patent EP2330111. DJ417859 - OLIGORIBONUCLEOTIDES AND METHODS OF USE THEREOF FOR TREATMENT OF FIBROTIC CONDITIONS AND OTHER DISEASES. HV530975 - JP 2011172579-A/350: OLIGORIBONUCLEOTIDES AND METHODS OF USE THEREOF FOR TREATMENT OF FIBROTIC CONDITIONS AND OTHER DISEASES. JC444398 - Sequence 351 from Patent EP2330111. DJ417880 - OLIGORIBONUCLEOTIDES AND METHODS OF USE THEREOF FOR TREATMENT OF FIBROTIC CONDITIONS AND OTHER DISEASES. HV530996 - JP 2011172579-A/371: OLIGORIBONUCLEOTIDES AND METHODS OF USE THEREOF FOR TREATMENT OF FIBROTIC CONDITIONS AND OTHER DISEASES. JC444419 - Sequence 372 from Patent EP2330111. DJ417878 - OLIGORIBONUCLEOTIDES AND METHODS OF USE THEREOF FOR TREATMENT OF FIBROTIC CONDITIONS AND OTHER DISEASES. HV530994 - JP 2011172579-A/369: OLIGORIBONUCLEOTIDES AND METHODS OF USE THEREOF FOR TREATMENT OF FIBROTIC CONDITIONS AND OTHER DISEASES. JC444417 - Sequence 370 from Patent EP2330111. DJ417886 - OLIGORIBONUCLEOTIDES AND METHODS OF USE THEREOF FOR TREATMENT OF FIBROTIC CONDITIONS AND OTHER DISEASES. HV531002 - JP 2011172579-A/377: OLIGORIBONUCLEOTIDES AND METHODS OF USE THEREOF FOR TREATMENT OF FIBROTIC CONDITIONS AND OTHER DISEASES. JC444425 - Sequence 378 from Patent EP2330111. DJ417877 - OLIGORIBONUCLEOTIDES AND METHODS OF USE THEREOF FOR TREATMENT OF FIBROTIC CONDITIONS AND OTHER DISEASES. HV530993 - JP 2011172579-A/368: OLIGORIBONUCLEOTIDES AND METHODS OF USE THEREOF FOR TREATMENT OF FIBROTIC CONDITIONS AND OTHER DISEASES. JC444416 - Sequence 369 from Patent EP2330111. DJ417863 - OLIGORIBONUCLEOTIDES AND METHODS OF USE THEREOF FOR TREATMENT OF FIBROTIC CONDITIONS AND OTHER DISEASES. HV530979 - JP 2011172579-A/354: OLIGORIBONUCLEOTIDES AND METHODS OF USE THEREOF FOR TREATMENT OF FIBROTIC CONDITIONS AND OTHER DISEASES. JC444402 - Sequence 355 from Patent EP2330111. DJ417862 - OLIGORIBONUCLEOTIDES AND METHODS OF USE THEREOF FOR TREATMENT OF FIBROTIC CONDITIONS AND OTHER DISEASES. HV530978 - JP 2011172579-A/353: OLIGORIBONUCLEOTIDES AND METHODS OF USE THEREOF FOR TREATMENT OF FIBROTIC CONDITIONS AND OTHER DISEASES. JC444401 - Sequence 354 from Patent EP2330111.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa05016 - Huntington's disease
BioCarta from NCI Cancer Genome Anatomy Project h_plcdPathway - Phospholipase C d1 in phospholipid associated cell signaling