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 |
|---|---|---|---|---|---|
OMIM IDMIM:607709 Ensembl IDEnsembl:ENSG00000119139 HGNC IDHGNC:HGNC:11828 PHARMGKB IDPA36533 Map Location9q21.11 | |||||
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 |
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 |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD792 | Cetuximab | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in TJP2
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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