Homo sapiens Gene: CLDN14
Summary
InnateDB Gene IDBG-2998.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CLDN14
Gene Name claudin 14
Synonyms DFNB29
Species Homo sapiens
Ensembl Gene ENSG00000159261
Encoded Proteins
claudin 14
claudin 14
claudin 14
claudin 14
claudin 14
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 21:36460621-36576569
Strand Reverse strand
Band q22.13
Transcripts
ENST00000342108 ENSP00000339292
ENST00000399139 ENSP00000382092
ENST00000399137 ENSP00000382090
ENST00000399136 ENSP00000382088
ENST00000399135 ENSP00000382087
ENST00000478313
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0005198 structural molecule activity
GO:0005515 protein binding
GO:0042802 identical protein binding
Biological Process
GO:0006461 protein complex assembly
GO:0016338 calcium-independent cell-cell adhesion
GO:0034329 cell junction assembly
GO:0045216 cell-cell junction organization
GO:0070830 tight junction assembly
Cellular Component
GO:0005783 endoplasmic reticulum
GO:0005886 plasma membrane
GO:0005923 tight junction
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Tight junction interactions pathway
Cell-Cell communication pathway
Cell junction organization pathway
Cell-cell junction organization pathway
KEGG
Cell adhesion molecules (CAMs) pathway
Leukocyte transendothelial migration pathway
Tight junction pathway
Hepatitis C pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.660278 Hs.741857
RefSeq NM_001146077 NM_001146078 NM_001146079 NM_012130 NM_144492
HUGO
OMIM
CCDS CCDS13645
HPRD 05727
IMGT
EMBL
GenPept
RNA Seq Atlas