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mutLBSgeneDB |
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| Gene summary for TGM2 |
 Gene summary |
| Basic gene Info. | Gene symbol | TGM2 |
| Gene name | transglutaminase 2 | |
| Synonyms | G-ALPHA-h|GNAH|HEL-S-45|TG2|TGC | |
| Cytomap | UCSC genome browser: 20q12 | |
| Type of gene | protein-coding | |
| RefGenes | NM_004613.2, NM_198951.1, | |
| Description | C polypeptide, protein-glutamine-gamma-glutamyltransferaseTG(C)TGase CTGase HTGase-2TGase-Hepididymis secretory protein Li 45protein-glutamine gamma-glutamyltransferase 2protein-glutamine-gamma-glutamyltransferasetissue transglutaminasetransglut | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 190196 | |
| HGNC : HGNC | ||
| HPRD : 01825 | ||
| Protein | UniProt: P21980 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_TGM2 | |
| BioGPS: 7052 | ||
| Pathway | NCI Pathway Interaction Database: TGM2 | |
| KEGG: TGM2 | ||
| REACTOME: TGM2 | ||
| Pathway Commons: TGM2 | ||
| Context | iHOP: TGM2 | |
| ligand binding site mutation search in PubMed: TGM2 | ||
| UCL Cancer Institute: TGM2 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0043277 | apoptotic cell clearance | 19628791 |
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| Ligand binding site mutations for TGM2 |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | K176 | N177D | COAD | 2 | E585 | E585D | COAD | 1 | M483 | N484I | COAD | 1 | K176 | N177S | COAD | 1 | M252 | M252I | HNSC | 1 | G170 | S171P | LUAD | 1 | R476 | R476W | LUSC | 1 | S482 | S482N | UCEC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for TGM2 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | M252 | M252I | -1.0676395 | E585 | E585D | -1.0193051 | M483 | N484I | -0.94547922 | K176 | N177S | -0.91698664 | S482 | S482N | -0.86977955 | K176 | N177D | -0.8323712 | G170 | S171P | -0.27593897 | R476 | R476W | -0.22931668 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for TGM2 from PDB |
| PDB ID | PDB title | PDB structure | 1KV3 | HUMAN TISSUE TRANSGLUTAMINASE IN GDP BOUND FORM |  |
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| Differential gene expression and gene-gene network for TGM2 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for TGM2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0007570 | Celiac Disease | 81 | Biomarker |
| umls:C1458155 | Breast Neoplasms | 10 | AlteredExpression, Biomarker, PostTranslationalModification |
| umls:C0007134 | Carcinoma, Renal Cell | 5 | Biomarker |
| umls:C0017636 | Glioblastoma | 3 | Biomarker, Therapeutic |
| umls:C0006118 | Brain Neoplasms | 2 | Biomarker, Therapeutic |
| umls:C0029408 | Osteoarthritis | 2 | Biomarker |
| umls:C0014859 | Esophageal Neoplasms | 1 | Biomarker |
| umls:C0020538 | Hypertension | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for TGM2 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Experimental | DB04315 | Guanosine-5'-Diphosphate | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of TGM2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (PHQ,ALA,GLN,PRO,LEU) | 3s3p | A | G170 | III | Peptide ligand (PHQ,ALA,VAL,PRO,LEU) | 3s3s | A | G170 | III | Peptide ligand (PHQ,ALA,VAL,PRO,LEU) | 3s3j | A | G170 K176 M252 | III | Peptide ligand (ACE,PRO,ONL,LEU,PRO,PHE,NH2) | 2q3z | A | M252 | GDP | GUANOSINE-5'-DIPHOSPHATE | 1kv3 | A | R476 S482 M483 | GDP | GUANOSINE-5'-DIPHOSPHATE | 1kv3 | B | R476 S482 M483 | GDP | GUANOSINE-5'-DIPHOSPHATE | 1kv3 | C | R476 S482 M483 | GDP | GUANOSINE-5'-DIPHOSPHATE | 1kv3 | D | R476 S482 M483 | GDP | GUANOSINE-5'-DIPHOSPHATE | 1kv3 | E | R476 S482 M483 | GDP | GUANOSINE-5'-DIPHOSPHATE | 1kv3 | F | R476 S482 M483 | ATP | ATP | 3ly6 | A | R476 S482 M483 | ATP | ATP | 3ly6 | B | R476 S482 M483 | ATP | ATP | 3ly6 | C | R476 S482 M483 | GTP | GTP | 4pyg | B | R476 S482 M483 | GTP | GTP | 4pyg | E | R476 S482 M483 | GTP | GTP | 4pyg | A | R476 S482 M483 E585 |
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| Conservation information for LBS of TGM2 |
| Multiple alignments for P21980 in multiple species |
| LBS | AA sequence | # species | Species | C277 | VKYGQCWVFAA | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus | E585 | RDLYLENPEIK | 2 | Homo sapiens, Mus musculus | E585 | RDVYIQNPEIK | 1 | Gallus gallus | E585 | RDIYLENPEIK | 1 | Bos taurus | F174 | QGSAKFIKNIP | 2 | Homo sapiens, Bos taurus | F174 | MGSRDYITSTP | 1 | Gallus gallus | F174 | QGSVKFIKSVP | 1 | Mus musculus | F334 | EMIWNFHCWVE | 3 | Homo sapiens, Mus musculus, Bos taurus | F334 | DMIWNFHCWVE | 1 | Gallus gallus | G170 | GFIYQGSAKFI | 2 | Homo sapiens, Bos taurus | G170 | GLIYMGSRDYI | 1 | Gallus gallus | G170 | GFIYQGSVKFI | 1 | Mus musculus | G480 | MRIRVGQSMNM | 1 | Homo sapiens | G480 | MRIKLSEGANN | 1 | Gallus gallus | G480 | MRIRVGDSMSM | 1 | Mus musculus | G480 | MRIRVGEGMNR | 1 | Bos taurus | H335 | MIWNFHCWVES | 3 | Homo sapiens, Mus musculus, Bos taurus | H335 | MIWNFHCWVEC | 1 | Gallus gallus | I313 | NSNLLIEYFRN | 3 | Homo sapiens, Mus musculus, Bos taurus | I313 | NGNLVIDRYLS | 1 | Gallus gallus | I331 | DKSEMIWNFHC | 2 | Homo sapiens, Bos taurus | I331 | RSTDMIWNFHC | 1 | Gallus gallus | I331 | NKSEMIWNFHC | 1 | Mus musculus | K176 | SAKFIKNIPWN | 2 | Homo sapiens, Bos taurus | K176 | SRDYITSTPWN | 1 | Gallus gallus | K176 | SVKFIKSVPWN | 1 | Mus musculus | L420 | SINRSLIVGLK | 1 | Homo sapiens | L420 | S-THSSVVGKN | 1 | Gallus gallus | L420 | SINRSLVVGQK | 1 | Mus musculus | L420 | SINHSLVVGLK | 1 | Bos taurus | L582 | LAERDLYLENP | 2 | Homo sapiens, Mus musculus | L582 | VAIRDVYIQNP | 1 | Gallus gallus | L582 | LAERDIYLENP | 1 | Bos taurus | M252 | DGVSPMSWIGS | 1 | Homo sapiens | M252 | DGMSPMAWIGS | 1 | Gallus gallus | M252 | DGISPMAWIGS | 1 | Mus musculus | M252 | DGISPMSWIGS | 1 | Bos taurus | M330 | GDKSEMIWNFH | 1 | Homo sapiens | M330 | RRSTDMIWNFH | 1 | Gallus gallus | M330 | SNKSEMIWNFH | 1 | Mus musculus | M330 | SDKSEMIWNFH | 1 | Bos taurus | M483 | RVGQSMNMGSD | 1 | Homo sapiens | M483 | KLSEGANNGSD | 1 | Gallus gallus | M483 | RVGDSMSMGND | 1 | Mus musculus | M483 | RVGEGMNRGCD | 1 | Bos taurus | N302 | VVTNYNSAHDQ | 3 | Homo sapiens, Mus musculus, Bos taurus | N302 | VVTNYNSAHDT | 1 | Gallus gallus | N333 | SEMIWNFHCWV | 3 | Homo sapiens, Mus musculus, Bos taurus | N333 | TDMIWNFHCWV | 1 | Gallus gallus | Q169 | QGFIYQGSAKF | 2 | Homo sapiens, Bos taurus | Q169 | QGLIYMGSRDY | 1 | Gallus gallus | Q169 | QGFIYQGSVKF | 1 | Mus musculus | Q276 | RVKYGQCWVFA | 2 | Homo sapiens, Bos taurus | Q276 | PVKYGQCWVFA | 1 | Gallus gallus | Q276 | QVKYGQCWVFA | 1 | Mus musculus | Q481 | RIRVGQSMNMG | 1 | Homo sapiens | Q481 | RIKLSEGANNG | 1 | Gallus gallus | Q481 | RIRVGDSMSMG | 1 | Mus musculus | Q481 | RIRVGEGMNRG | 1 | Bos taurus | R476 | TGMAMRIRVGQ | 1 | Homo sapiens | R476 | EGLHMRIKLSE | 1 | Gallus gallus | R476 | TGVAMRIRVGD | 1 | Mus musculus | R476 | TGVAMRIRVGE | 1 | Bos taurus | R478 | MAMRIRVGQSM | 1 | Homo sapiens | R478 | LHMRIKLSEGA | 1 | Gallus gallus | R478 | VAMRIRVGDSM | 1 | Mus musculus | R478 | VAMRIRVGEGM | 1 | Bos taurus | R580 | YLLAERDLYLE | 2 | Homo sapiens, Mus musculus | R580 | SVVAIRDVYIQ | 1 | Gallus gallus | R580 | YLLAERDIYLE | 1 | Bos taurus | S482 | IRVGQSMNMGS | 1 | Homo sapiens | S482 | IKLSEGANNGS | 1 | Gallus gallus | S482 | IRVGDSMSMGN | 1 | Mus musculus | S482 | IRVGEGMNRGC | 1 | Bos taurus | V479 | AMRIRVGQSMN | 1 | Homo sapiens | V479 | HMRIKLSEGAN | 1 | Gallus gallus | V479 | AMRIRVGDSMS | 1 | Mus musculus | V479 | AMRIRVGEGMN | 1 | Bos taurus | W241 | VLLGRWDNNYG | 2 | Homo sapiens, Mus musculus | W241 | VLLGRWDNHYE | 1 | Gallus gallus | W241 | VLLGRWDNNYA | 1 | Bos taurus | W278 | KYGQCWVFAAV | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus | W332 | KSEMIWNFHCW | 3 | Homo sapiens, Mus musculus, Bos taurus | W332 | STDMIWNFHCW | 1 | Gallus gallus | Y583 | AERDLYLENPE | 2 | Homo sapiens, Mus musculus | Y583 | AIRDVYIQNPE | 1 | Gallus gallus | Y583 | AERDIYLENPE | 1 | Bos taurus |
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