CLDN14 claudin 14 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CLDN14provided by HGNC
Official Full Name: claudin 14provided by HGNC
Primary source: HGNC:HGNC:2035
See related: Ensembl:ENSG00000159261 MIM:605608; AllianceGenome:HGNC:2035
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DFNB29
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]
Expression: Biased expression in liver (RPKM 3.1) and kidney (RPKM 1.4) See more
Orthologs: all
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Genomic context

Location:: 21q22.13

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2025_08	current	GRCh38.p14 (GCF_000001405.40)	21	NC_000021.9 (36460621..36576569, complement)
RS_2025_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	21	NC_060945.1 (34843222..34958721, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	21	NC_000021.8 (37832919..37948867, complement)

Chromosome 21 - NC_000021.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Diabetes compromises tight junction protein claudin 14 in the urinary bladder.
Title: Diabetes compromises tight junction protein claudin 14 in the urinary bladder.
Downregulation of chemoresistance by claudin-14 silencing in human colorectal cancer cells.
Title: Downregulation of chemoresistance by claudin-14 silencing in human colorectal cancer cells.
The correlation between promoter hypermethylation of VDR, CLDN, and CasR genes and recurrent stone formation.
Title: The correlation between promoter hypermethylation of VDR, CLDN, and CasR genes and recurrent stone formation.
This report indicated that claudin-14 is essential for maintaining the inner ear environment and suggested the possible phenotypic expansion of DFNB29. This is the first report of a patient with a tight junction variant receiving a cochlear implantation.
Title: Detailed Clinical Features of Deafness Caused by a Claudin-14 Variant.
No significant associations were found among claudin-16 and claudin-19 single-nucleotide polymorphisms and calcium excretion and between claudin-14, claudin-16, and claudin-19 single-nucleotide polymorphisms and stones
Title: Claudin-14 Gene Polymorphisms and Urine Calcium Excretion.
This study suggested considerable genetic heterogeneity in the causation of hearing loss in Dhadkai. Recessive mutations were observed in at least three genes causing hearing loss: OTOF (p.R708X), SLC26A4 (p.Y556X) and CLDN14 (p.V85D). Mutation p.R708X appeared to be the major cause of hearing impairment in Dhadkai.
Title: Mutations in OTOF, CLDN14 & SLC26A4 genes as major causes of hearing impairment in Dhadkai village, Jammu & Kashmir, India.
CLDN14 might not be a major causative gene for NSHL in Chinese populations, which would contribute to fully understanding the genetic cause of NSHL in the East Asian populations
Title: Genetic analysis of CLDN14 in the Chinese population affected with non-syndromic hearing loss.
Our data suggest that children with the INSM1 binding site within the CLDN14 risk haplotype have a higher likelihood of hypercalciuria and kidney stones. Enhanced CLDN14 expression may play a role in the pathophysiology of their hypercalciuria.
Title: A variant in a cis-regulatory element enhances claudin-14 expression and is associated with pediatric-onset hypercalciuria and kidney stones.
All hearing impaired individuals, including the proband, are homozygous for a pathogenic variant of CLDN14, but this only explains the deafness.
Title: Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome.
Extensive clinical recruitment and targeted screening suggest that CLDN14 p.(Ala163Val) represents a major founder variant for prelingual sensorineural hearing loss in the Newfoundland population.
Title: A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect.

Submit: New GeneRIF Correction See all GeneRIFs (27)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autosomal recessive nonsyndromic hearing loss 29 MedGen: C3279660 OMIM: 614035 GeneReviews: Not available	Compare labs
Hereditary hearing loss and deafness MedGen: C0236038 GeneReviews: Genetic Hearing Loss Overview	Compare labs

EBI GWAS Catalog

Description
Impact of ancestry and common genetic variants on QT interval in African Americans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Multistage genome-wide association meta-analyses identified two new loci for bone mineral density. EBI GWAS Catalog EBI GWAS CatalogPubMed
Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-9548 (e-PCR)
- UniSTS:76808

D21S1222 (e-PCR)
- UniSTS:148245

SHGC-85062 (e-PCR)
- UniSTS:103447

SHGC-51960 (e-PCR)
- UniSTS:25390

RH120859 (e-PCR)
- UniSTS:133719

G34613 (e-PCR)
- UniSTS:12666

SHGC-51934 (e-PCR)
- UniSTS:7554

AFM205WB4 (e-PCR)
- UniSTS:14561

G34616 (e-PCR)
- UniSTS:67055

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural molecule activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in calcium-independent cell-cell adhesion	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein-containing complex assembly	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in bicellular tight junction	IBA Inferred from Biological aspect of Ancestor more info
located_in bicellular tight junction	IEA Inferred from Electronic Annotation more info
located_in bicellular tight junction	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum	HDA more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	HDA more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: claudin-14

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011777.1 RefSeqGene

Range

101448..120949

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001146077.2 → NP_001139549.1 claudin-14

See identical proteins and their annotated locations for NP_001139549.1

Status: REVIEWED

Description

Transcript Variant: This variant (delta) differs in the 5' UTR compared to variant 1. All five variants encode the same protein.

Source sequence(s)

AJ566766, BC012126

Consensus CDS

CCDS13645.1

UniProtKB/Swiss-Prot

O95500

Related

ENSP00000339292.2, ENST00000342108.2

Conserved Domains (1) summary

cl21598
Location:23 → 181

PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
NM_001146078.3 → NP_001139550.1 claudin-14

See identical proteins and their annotated locations for NP_001139550.1

Status: REVIEWED

Description

Transcript Variant: This variant (gamma) differs in the 5' UTR compared to variant 1. All five variants encode the same protein.

Source sequence(s)

AI655909, AJ566765, BC012126

Consensus CDS

CCDS13645.1

UniProtKB/Swiss-Prot

O95500

Related

ENSP00000382088.1, ENST00000399136.5

Conserved Domains (1) summary

cl21598
Location:23 → 181

PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
NM_001146079.2 → NP_001139551.1 claudin-14

See identical proteins and their annotated locations for NP_001139551.1

Status: REVIEWED

Description

Transcript Variant: This variant (beta) differs in the 5' UTR compared to variant 1. All five variants encode the same protein.

Source sequence(s)

AP000695, AY355348, BC012126

Consensus CDS

CCDS13645.1

UniProtKB/Swiss-Prot

O95500

Related

ENSP00000382087.1, ENST00000399135.6

Conserved Domains (1) summary

cl21598
Location:23 → 181

PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
NM_012130.4 → NP_036262.1 claudin-14

See identical proteins and their annotated locations for NP_036262.1

Status: REVIEWED

Description

Transcript Variant: This variant (epsilon) differs in the 5' UTR compared to variant 1. All five variants encode the same protein.

Source sequence(s)

AP000695, AY355349, BC012126

Consensus CDS

CCDS13645.1

UniProtKB/Swiss-Prot

O95500

Related

ENSP00000382092.1, ENST00000399139.5

Conserved Domains (1) summary

cl21598
Location:23 → 181

PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
NM_144492.3 → NP_652763.1 claudin-14

See identical proteins and their annotated locations for NP_652763.1

Status: REVIEWED

Description

Transcript Variant: This variant (alpha) represents the longest transcript. All five variants encode the same protein.

Source sequence(s)

AF314090, AP000695, BC012126

Consensus CDS

CCDS13645.1

UniProtKB/Swiss-Prot

O95500

Related

ENSP00000382090.1, ENST00000399137.5

Conserved Domains (1) summary

cl21598
Location:23 → 181

PMP22_Claudin; PMP-22/EMP/MP20/Claudin family