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    CLDN14 claudin 14 [ Homo sapiens (human) ]

    Gene ID: 23562, updated on 27-Nov-2024

    Summary

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    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
    mouse all
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    Genomic context

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    See CLDN14 in Genome Data Viewer
    Location:
    21q22.13
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (36460621..36576569, complement)
    RS_2024_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_000021.9Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13284 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:37708895-37710094 Neighboring gene MORC family CW-type zinc finger 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:37737075-37737251 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13285 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13286 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:37758141-37758642 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:37758643-37759142 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:37780832-37782031 Neighboring gene ATP synthase membrane subunit f pseudogene 1 Neighboring gene chromatin assembly factor 1 subunit B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:37802462-37803337 Neighboring gene CLDN14 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18434 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:37836794-37837391 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:37842779-37843278 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18435 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18436 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18437 Neighboring gene proteasome 26S subunit, non-ATPase 4 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13287 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18438 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18439 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13288 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18440 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:37973046-37973546 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:37973547-37974047 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:37978989-37979489 Neighboring gene uncharacterized LOC105369308 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:38031419-38031920 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:38031921-38032420 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr21:38067894-38068806 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:38072642-38073235 Neighboring gene uncharacterized LOC107985492 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:38073236-38073828 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:38077313-38078142 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:38078973-38079802 Neighboring gene SIM bHLH transcription factor 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A Common Variant in CLDN14 is Associated with Primary Biliary Cirrhosis and Bone Mineral Density. Tang R, et al. Sci Rep, 2016 Feb 4. PMID 26842849, Free PMC Article
    2. Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density. Thorleifsson G, et al. Nat Genet, 2009 Aug. PMID 19561606
    3. Mutations in CLDN14 are associated with different hearing thresholds. Bashir R, et al. J Hum Genet, 2010 Nov. PMID 20811388, Free PMC Article
    4. Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro. Wattenhofer M, et al. Hum Mutat, 2005 Jun. PMID 15880785
    5. Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss. Lee K, et al. Am J Med Genet A, 2012 Feb. PMID 22246673, Free PMC Article

    See all (47) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Diabetes compromises tight junction protein claudin 14 in the urinary bladder.
      Title: Diabetes compromises tight junction protein claudin 14 in the urinary bladder.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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 bicellular tight junction assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in endoplasmic reticulum HDA PubMed 
    located_in plasma membrane HDA PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    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

    1. NG_011777.1 RefSeqGene

      Range
      101448..120949
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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

    2. 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

    3. 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

    4. 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

    5. 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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      36460621..36576569 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047440736.1 → XP_047296692.1  claudin-14 isoform X1

      UniProtKB/Swiss-Prot
      O95500

    2. XM_047440735.1 → XP_047296691.1  claudin-14 isoform X1

      UniProtKB/Swiss-Prot
      O95500

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      34843222..34958721 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054324413.1 → XP_054180388.1  claudin-14 isoform X1

      UniProtKB/Swiss-Prot
      O95500
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95500.1 GenPept UniProtKB/Swiss-Prot:O95500

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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