| Disease ID | Disease name | Source of annotation with TGFBR2 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 133239 | ESOPHAGEAL CANCER | OMIM, HUMSAVAR | link to OMIM | 7 | TGFBR2, DCC, DLEC1, RNF6, DEC1, WWOX, LZTS1 |
| PS609192 | LOEYS-DIETZ SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 5 | TGFB3, SMAD3, TGFBR2, TGFB2, TGFBR1 |
| PS120435 | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS | ClinVar, OMIM, HUMSAVAR | link to OMIM | 7 | TGFBR2, MSH6, PMS2, MLH3, EPCAM, MLH1, MSH2 |
| PS607086 | AORTIC ANEURYSM, FAMILIAL THORACIC | ClinVar, OMIM, HUMSAVAR | link to OMIM | 7 | TGFBR2, ACTA2, TGFBR1, MYH11, MYLK, PRKG1, MFAP5 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| TGF-beta signaling pathway | hsa04350 | 6.41 |
| Chronic myeloid leukemia | hsa05220 | 6.48 |
| Pancreatic cancer | hsa05212 | 6.56 |
| Colorectal cancer | hsa05210 | 6.52 |
| MAPK signaling pathway | hsa04010 | 4.63 |
| Pathways in cancer | hsa05200 | 3.98 |
| Transcriptional misregulation in cancer | hsa05202 | 5.21 |
| Chagas disease (American trypanosomiasis) | hsa05142 | 5.99 |
| Adherens junction | hsa04520 | 6.26 |
| Hippo signaling pathway | hsa04390 | 5.37 |
| Endocytosis | hsa04144 | 4.92 |
| FoxO signaling pathway | hsa04068 | 5.63 |
| Osteoclast differentiation | hsa04380 | 5.64 |
| HTLV-I infection | hsa05166 | 4.59 |
| Cytokine-cytokine receptor interaction | hsa04060 | 4.67 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Signal Transduction | R-HSA-162582 | 1.78 |
| Diseases of signal transduction | R-HSA-5663202 | 4.89 |
| SMAD2/3 Phosphorylation Motif Mutants in Cancer | R-HSA-3304356 | 10.4 |
| Signaling by TGF-beta Receptor Complex in Cancer | R-HSA-3304351 | 9.98 |
| TGFBR2 Kinase Domain Mutants in Cancer | R-HSA-3645790 | 10.98 |
| TGFBR2 MSI Frameshift Mutants in Cancer | R-HSA-3642279 | 11.98 |
| Loss of Function of TGFBR2 in Cancer | R-HSA-3642278 | 10.98 |
| Signaling by TGF-beta Receptor Complex | R-HSA-170834 | 6.81 |
| Downregulation of TGF-beta receptor signaling | R-HSA-2173788 | 8.28 |
| Loss of Function of SMAD2/3 in Cancer | R-HSA-3304349 | 10.18 |
| TGFBR1 KD Mutants in Cancer | R-HSA-3656532 | 10.18 |
| TGFBR1 LBD Mutants in Cancer | R-HSA-3656535 | 10.98 |
| Loss of Function of TGFBR1 in Cancer | R-HSA-3656534 | 10.18 |
| TGF-beta receptor signaling activates SMADs | R-HSA-2173789 | 7.98 |
| TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition) | R-HSA-2173791 | 8.98 |
| SMAD2/3 MH2 Domain Mutants in Cancer | R-HSA-3315487 | 10.18 |
| Disease | R-HSA-1643685 | 3.33 |
| GO term | GO ID | GO IC |
|---|---|---|
| cytokine receptor binding | GO:0005126 | 4.14 |
| signaling receptor activity | GO:0038023 | 2.49 |
| purine ribonucleoside triphosphate binding | GO:0035639 | 2.22 |
| transforming growth factor beta receptor binding | GO:0005160 | 5.81 |
| cytokine binding | GO:0019955 | 5.21 |
| enzyme binding | GO:0019899 | 2.27 |
| ribonucleoside binding | GO:0032549 | 2.22 |
| molecular transducer activity | GO:0060089 | 2.32 |
| small molecule binding | GO:0036094 | 1.89 |
| binding | GO:0005488 | 0.18 |
| signal transducer activity | GO:0004871 | 2.28 |
| nucleotide binding | GO:0000166 | 1.96 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| nucleoside phosphate binding | GO:1901265 | 1.96 |
| transforming growth factor beta binding | GO:0050431 | 6.97 |
| cation binding | GO:0043169 | 1.4 |
| mitogen-activated protein kinase kinase kinase binding | GO:0031435 | 6.85 |
| receptor signaling protein activity | GO:0005057 | 4.76 |
| type III transforming growth factor beta receptor binding | GO:0034714 | 8.35 |
| growth factor binding | GO:0019838 | 4.89 |
| ion binding | GO:0043167 | 1.36 |
| transmembrane receptor protein serine/threonine kinase activity | GO:0004675 | 6.91 |
| protein serine/threonine kinase activity | GO:0004674 | 3.64 |
| transferase activity | GO:0016740 | 1.95 |
| nucleoside binding | GO:0001882 | 2.21 |
| purine nucleoside binding | GO:0001883 | 2.22 |
| protein kinase activity | GO:0004672 | 3.27 |
| purine nucleotide binding | GO:0017076 | 2.19 |
| metal ion binding | GO:0046872 | 1.41 |
| ATP binding | GO:0005524 | 2.43 |
| kinase activity | GO:0016301 | 2.93 |
| SMAD binding | GO:0046332 | 5.45 |
| kinase binding | GO:0019900 | 3.32 |
| type I transforming growth factor beta receptor binding | GO:0034713 | 7.44 |
| protein kinase binding | GO:0019901 | 3.44 |
| adenyl nucleotide binding | GO:0030554 | 2.4 |
| carbohydrate derivative binding | GO:0097367 | 2.03 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| catalytic activity | GO:0003824 | 1.05 |
| transforming growth factor beta receptor activity, type II | GO:0005026 | 9.05 |
| transferase activity, transferring phosphorus-containing groups | GO:0016772 | 2.77 |
| transforming growth factor beta-activated receptor activity | GO:0005024 | 7.44 |
| glycosaminoglycan binding | GO:0005539 | 4.42 |
| phosphotransferase activity, alcohol group as acceptor | GO:0016773 | 3.08 |
| transmembrane signaling receptor activity | GO:0004888 | 2.57 |
| adenyl ribonucleotide binding | GO:0032559 | 2.41 |
| transmembrane receptor activity | GO:0099600 | 2.53 |
| protein binding | GO:0005515 | 0.46 |
| receptor signaling protein serine/threonine kinase activity | GO:0004702 | 5.23 |
| purine ribonucleotide binding | GO:0032555 | 2.2 |
| receptor binding | GO:0005102 | 2.43 |
| transmembrane receptor protein kinase activity | GO:0019199 | 5.32 |
| purine ribonucleoside binding | GO:0032550 | 2.22 |
| ribonucleotide binding | GO:0032553 | 2.19 |
| receptor activity | GO:0004872 | 2.32 |