CLDN14
Summary: Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. The encoded protein also binds specifically to the WW domain of Yes-associated protein. Defects in this gene are the cause of an autosomal recessive form of nonsyndromic sensorineural deafness. It is also reported that four synonymous variants in this gene are associated with kidney stones and reduced bone mineral density. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2010].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
claudin 14 | MIM:605608 | Ensembl:ENSG00000159261 | HGNC:HGNC:2035 | PA26561 | 21q22.13 |
GO terms in CLDN14
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
CC | HDA | GO:0005783 | endoplasmic reticulum |
CC | HDA | GO:0005886 | plasma membrane |
CC | ISS | GO:0005923 | bicellular tight junction |
CC | IEA | GO:0016021 | integral component of membrane |
BP | ISS | GO:0016338 | calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules |
BP | TAS | GO:0065003 | protein-containing complex assembly |
MF | IEA | GO:0005198 | structural molecule activity |
MF | ISS | GO:0042802 | identical protein binding |
Gene expression in normal tissue: CLDN14
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CLDN14
Database | Pathway ID | Pathway Des. |
---|---|---|
reactome | R-HSA-1500931 | Cell-Cell communication |
reactome | R-HSA-420029 | Tight junction interactions |
reactome | R-HSA-421270 | Cell-cell junction organization |
reactome | R-HSA-446728 | Cell junction organization |
wikipathways | WP4239 | EMT transition in Colorectal Cancer |
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) |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CLDN14