CLDN5
Summary: This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets. Mutations in this gene have been found in patients with velocardiofacial syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2018].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| claudin 5 | MIM:602101 | Ensembl:ENSG00000184113 | HGNC:HGNC:2047 | PA26573 | 22q11.21 |
GO terms in CLDN5
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IEA | GO:0005198 | structural molecule activity |
| MF | ISS | GO:0042802 | identical protein binding |
| BP | TAS | GO:0003151 | outflow tract morphogenesis |
| BP | IMP | GO:0007043 | cell-cell junction assembly |
| BP | IDA | GO:0007179 | transforming growth factor beta receptor signaling pathway |
| BP | TAS | GO:0007612 | learning |
| BP | ISS | GO:0016338 | calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules |
| BP | TAS | GO:0060021 | roof of mouth development |
| BP | TAS | GO:0060325 | face morphogenesis |
| BP | IMP | GO:1903142 | positive regulation of establishment of endothelial barrier |
| BP | TAS | GO:2000810 | regulation of bicellular tight junction assembly |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | IDA | GO:0005911 | cell-cell junction |
| CC | IDA | GO:0005923 | bicellular tight junction |
| CC | ISS | GO:0005923 | bicellular tight junction |
| CC | NAS | GO:0016021 | integral component of membrane |
| CC | TAS | GO:0016021 | integral component of membrane |
| CC | IDA | GO:0016327 | apicolateral plasma membrane |
| CC | TAS | GO:0030054 | cell junction |
| CC | IDA | GO:0030864 | cortical actin cytoskeleton |
Gene expression in normal tissue: CLDN5
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CLDN5
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa04514 | Cell adhesion molecules (CAMs) - Homo sapiens (human) |
| kegg | hsa04530 | Tight junction - Homo sapiens (human) |
| kegg | hsa04670 | Leukocyte transendothelial migration - Homo sapiens (human) |
| kegg | hsa05160 | Hepatitis C - Homo sapiens (human) |
| wikipathways | WP410 | Exercise-induced Circadian Regulation |
| wikipathways | WP4105 | Transcriptional regulation by RUNX1 |
| wikipathways | WP4239 | EMT transition in Colorectal Cancer |
| reactome | R-HSA-1500931 | Cell-Cell communication |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-420029 | Tight junction interactions |
| reactome | R-HSA-421270 | Cell-cell junction organization |
| reactome | R-HSA-446728 | Cell junction organization |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-8878171 | Transcriptional regulation by RUNX1 |
| reactome | R-HSA-8935964 | RUNX1 regulates expression of components of tight junctions |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CLDN5
CLASSFICATION
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