InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CLDN14

Summary

InnateDB Protein

IDBP-231422.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CLDN14

Protein Name

claudin 14

Synonyms

DFNB29;

Species

Homo sapiens

Ensembl Protein

ENSP00000382087

InnateDB Gene

IDBG-2998 (CLDN14)

Protein Structure

UniProt Annotation

Function

Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity. {ECO:0000250}.

Subcellular Localization

Cell junction, tight junction. Cell membrane; Multi-pass membrane protein.

Disease Associations

Deafness, autosomal recessive, 29 (DFNB29) [MIM:614035]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269PubMed:11163249, ECO:0000269PubMed:22246673, ECO:0000269PubMed:23235333}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Liver, kidney. Also found in ear.

Comments

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: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