| Disease ID | Disease name | Source of annotation with TJP2 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 607748 | HYPERCHOLANEMIA, FAMILIAL | ClinVar, OMIM, HUMSAVAR | link to OMIM | 3 | EPHX1, TJP2, BAAT |
| 615878 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4 | ClinVar, OMIM | link to OMIM | 1 | TJP2 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Tight junction | hsa04530 | 5.53 |
| Vibrio cholerae infection | hsa05110 | 6.86 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Apoptotic cleavage of cellular proteins | R-HSA-111465 | 7.73 |
| Signaling by Hippo | R-HSA-2028269 | 8.66 |
| Apoptotic execution phase | R-HSA-75153 | 7.28 |
| Programmed Cell Death | R-HSA-5357801 | 5.65 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| Apoptotic cleavage of cell adhesion proteins | R-HSA-351906 | 9.52 |
| Apoptosis | R-HSA-109581 | 5.68 |
| GO term | GO ID | GO IC |
|---|---|---|
| protein binding, bridging | GO:0030674 | 4.68 |
| nucleotide kinase activity | GO:0019201 | 6.52 |
| nucleobase-containing compound kinase activity | GO:0019205 | 5.85 |
| transferase activity, transferring phosphorus-containing groups | GO:0016772 | 2.77 |
| kinase activity | GO:0016301 | 2.93 |
| guanylate kinase activity | GO:0004385 | 7.25 |
| protein C-terminus binding | GO:0008022 | 4.5 |
| phosphotransferase activity, phosphate group as acceptor | GO:0016776 | 6.02 |
| catalytic activity | GO:0003824 | 1.05 |
| transferase activity | GO:0016740 | 1.95 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| protein domain specific binding | GO:0019904 | 3.32 |
| binding, bridging | GO:0060090 | 4.57 |