CLDN14

Protein identityUniProt · HPA

UniProt accession

O95500

Gene

CLDN14

Ensembl

ENSG00000159261

Chromosome

21

Canonical length

239 aa

Protein class

Disease related genes, Human disease related genes, Predicted membrane proteins

Subcellular location

Vesicles

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

239 residues, UniProt reviewed canonical sequence.

>O95500|CLDN14
     1  MASTAVQLLG FLLSFLGMVG TLITTILPHW RRTAHVGTNI LTAVSYLKGL WMECVWHSTG
    61  IYQCQIYRSL LALPQDLQAA RALMVISCLL SGIACACAVI GMKCTRCAKG TPAKTTFAIL
   121  GGTLFILAGL LCMVAVSWTT NDVVQNFYNP LLPSGMKFEI GQALYLGFIS SSLSLIGGTL
   181  LCLSCQDEAP YRPYQAPPRA TTTTANTAPA YQPPAAYKDN RAPSVTSATH SGYRLNDYV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CLDN14 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

4

Mean surface accessibility (rSASA)

0.39

Highest tissue expression

39 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CLDN14.

Disease | AllUniProt

Conditions CLDN14 is implicated in, by any mechanism.

• Deafness, autosomal recessive, 29 (DFNB29) MIM:614035

Disease | GeneticClinVar

20 pathogenic / likely-pathogenic of 196 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Autosomal recessive nonsyndromic hearing loss 29
• Hearing impairment
• Hearing loss, autosomal recessive
• CLDN14-related disorder
• Sensorineural hearing loss disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.75

gnomAD pLI

0

gnomAD missense Z

0.2

DepMap mean gene effect

0.1

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• bicellular tight junction assembly
• calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules
• cell adhesion
• protein-containing complex assembly

Molecular functions

• identical protein binding
• structural molecule activity

Cellular components

• bicellular tight junction
• endoplasmic reticulum
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• PMP-22/EMP/MP20/Claudin
• Claudin
• Claudin, conserved site
• PMP-22/EMP/MP20/Claudin family

KeywordsUniProt

• Cell junction
• Cell membrane
• Deafness
• Membrane
• Non-syndromic deafness
• Tight junction
• Transmembrane
• Transmembrane helix