TGM2
transglutaminase 2
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]
Known Variants75 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs144501038 | 20:36,758,627 | G/A | — | likely benign |
| rs150186613 | 20:36,758,680 | C/T | — | uncertain significance |
| rs370453250 | 20:36,758,717 | C/T | — | likely benign |
| rs1195870646 | 20:36,758,758 | C/T | — | uncertain significance |
| rs2229472 | 20:36,758,762 | G/A | — | benign |
| rs1204395621 | 20:36,758,766 | T/C | — | uncertain significance |
| rs924234485 | 20:36,758,770 | G/A | — | uncertain significance |
| rs377170051 | 20:36,759,502 | C/G | — | uncertain significance |
| rs143580997 | 20:36,759,503 | C/T | — | benign |
| rs2515584715 | 20:36,759,531 | C/G | — | uncertain significance |
| rs747144340 | 20:36,759,612 | T/A | — | uncertain significance |
| rs150712844 | 20:36,760,743 | C/T | — | uncertain significance |
| rs2515587237 | 20:36,760,752 | A/G | — | uncertain significance |
| rs370803946 | 20:36,760,786 | C/T | — | uncertain significance |
| rs149480979 | 20:36,760,809 | G/A | — | uncertain significance |
| rs199832452 | 20:36,760,882 | T/C | — | uncertain significance |
| rs2229473 | 20:36,760,894 | C/A | — | benign |
| rs140171902 | 20:36,766,591 | G/A | — | likely benign |
| rs926132936 | 20:36,766,613 | C/T | — | uncertain significance |
| rs756396625 | 20:36,766,632 | C/T | — | uncertain significance |
| rs757809334 | 20:36,766,643 | G/T | — | uncertain significance |
| rs749022774 | 20:36,766,783 | G/T | — | likely benign |
| rs535280479 | 20:36,767,854 | G/A | — | likely benign |
| rs45621634 | 20:36,767,908 | G/T | — | benign |
| rs759941756 | 20:36,767,955 | C/T | — | uncertain significance |
| rs2229470 | 20:36,767,986 | C/T | — | benign |
| rs2515599881 | 20:36,768,003 | T/C | — | uncertain significance |
| rs776132030 | 20:36,768,021 | T/G | — | uncertain significance |
| rs78619991 | 20:36,768,026 | C/T | — | benign |
| rs772874225 | 20:36,768,052 | C/T | — | likely benign |
| rs1196349668 | 20:36,769,744 | G/A | — | likely benign |
| rs201369573 | 20:36,769,748 | C/T | — | likely benign |
| rs755248877 | 20:36,770,476 | C/T | — | uncertain significance |
| rs2229471 | 20:36,770,483 | G/A | — | benign |
| rs202067504 | 20:36,770,519 | C/T | — | benign |
| rs142987627 | 20:36,770,546 | A/G | — | likely benign |
| rs757938039 | 20:36,770,553 | G/A | — | uncertain significance |
| rs140203733 | 20:36,770,573 | G/A | — | likely benign |
| rs45442202 | 20:36,775,132 | G/A | — | benign |
| rs751708757 | 20:36,775,166 | C/T | — | uncertain significance |
| rs778211918 | 20:36,775,176 | C/T | — | uncertain significance |
| rs369988859 | 20:36,775,234 | G/A | — | likely benign |
| rs549631360 | 20:36,775,243 | G/A | — | benign |
| rs780697822 | 20:36,775,259 | C/T | — | uncertain significance |
| rs45461691 | 20:36,776,393 | G/C | — | benign |
| rs768583570 | 20:36,776,418 | C/T | — | uncertain significance |
| rs770029921 | 20:36,776,423 | G/A | — | likely benign |
| rs764630453 | 20:36,779,426 | C/T | — | uncertain significance |
| rs200446060 | 20:36,779,458 | C/T | — | benign |
| rs6023526 | 20:36,783,582 | T/G | — | — |
| rs190658613 | 20:36,784,246 | C/T | — | likely benign |
| rs758996038 | 20:36,784,311 | C/T | — | uncertain significance |
| rs764008291 | 20:36,784,335 | C/A | — | uncertain significance |
| rs146137365 | 20:36,784,354 | C/T | — | likely benign |
| rs150909289 | 20:36,784,379 | C/T | — | likely benign |
| rs540320021 | 20:36,784,380 | G/A | — | uncertain significance |
| rs139395066 | 20:36,784,408 | C/T | — | uncertain significance |
| rs755256059 | 20:36,784,410 | G/A | — | uncertain significance |
| rs41274720 | 20:36,784,455 | C/T | — | benign |
| rs376510500 | 20:36,784,456 | G/A | — | uncertain significance |
| rs144476788 | 20:36,784,469 | G/A | — | benign |
| rs4811528 | 20:36,787,429 | G/A | regulatory region variant | — |
| rs201597511 | 20:36,789,869 | C/T | — | uncertain significance |
| rs755865295 | 20:36,789,870 | G/A | — | uncertain significance |
| rs1333748414 | 20:36,789,872 | C/T | — | uncertain significance |
| rs753630955 | 20:36,789,912 | G/T | — | likely benign |
| rs144715765 | 20:36,789,928 | C/T | — | benign |
| rs762006838 | 20:36,789,929 | C/T | — | uncertain significance |
| rs200206764 | 20:36,789,939 | C/T | — | uncertain significance |
| rs950955122 | 20:36,789,947 | T/C | — | uncertain significance |
| rs758298437 | 20:36,789,956 | C/T | — | uncertain significance |
| rs142851666 | 20:36,790,128 | G/A | intron variant | — |
| rs7270785 | 20:36,791,619 | G/T | intron variant | — |
| rs2076380 | 20:36,793,529 | G/T | — | — |
| rs189455092 | 20:36,793,740 | A/C | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.