TJP2
Summary: This gene encodes a zonula occluden that is a member of the membrane-associated guanylate kinase homolog family. The encoded protein functions as a component of the tight junction barrier in epithelial and endothelial cells and is necessary for proper assembly of tight junctions. Mutations in this gene have been identified in patients with hypercholanemia, and genomic duplication of a 270 kb region including this gene causes autosomal dominant deafness-51. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| tight junction protein 2 | MIM:607709 | Ensembl:ENSG00000119139 | HGNC:HGNC:11828 | PA36533 | 9q21.11 |
Gene Categories:
KINASEGO terms in TJP2
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | TAS | GO:0004385 | guanylate kinase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IPI | GO:0019904 | protein domain specific binding |
| MF | IDA | GO:0030674 | protein binding, bridging |
| MF | HDA | GO:0045296 | cadherin binding |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0005829 | cytosol |
| CC | TAS | GO:0005829 | cytosol |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | IEA | GO:0005912 | adherens junction |
| CC | IDA | GO:0005923 | bicellular tight junction |
| CC | IDA | GO:0030054 | cell junction |
| BP | TAS | GO:0035329 | hippo signaling |
| BP | IEA | GO:0046037 | GMP metabolic process |
| BP | IEA | GO:0046710 | GDP metabolic process |
| BP | IMP | GO:0050892 | intestinal absorption |
| BP | IMP | GO:0090557 | establishment of endothelial intestinal barrier |
| BP | IMP | GO:0090559 | regulation of membrane permeability |
Gene expression in normal tissue: TJP2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in TJP2
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa04530 | Tight junction - Homo sapiens (human) |
| kegg | hsa05110 | Vibrio cholerae infection - Homo sapiens (human) |
| pid | myc_represspathway | Validated targets of C-MYC transcriptional repression |
| netpath | Pathway_EGFR1 | EGFR1 |
| reactome | R-HSA-109581 | Apoptosis |
| reactome | R-HSA-111465 | Apoptotic cleavage of cellular proteins |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-2028269 | Signaling by Hippo |
| reactome | R-HSA-351906 | Apoptotic cleavage of cell adhesion proteins |
| reactome | R-HSA-5357801 | Programmed Cell Death |
| reactome | R-HSA-75153 | Apoptotic execution phase |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in TJP2
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