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CLDN14 Gene

protein-coding   GIFtS: 67
GCID: GC21M037832

Claudin 14


(Previous symbol: DFNB29)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, 15RNAdb, and/or 11Nature:405,311-319 and CroW21)
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Aliases
Claudin 141 2
DFNB291 2 5
Human CLDN14 Gene11
claudin-142

External Ids:    HGNC: 20351   Entrez Gene: 235622   Ensembl: ENSG000001592617   OMIM: 6056085   UniProtKB: O955003   

Export aliases for CLDN14 gene to outside databases

Previous GC identifers: GC21M034410 GC21M036753 GC21M036754 GC21M023308


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CLDN14 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)

GeneCards Summary for CLDN14 Gene:
CLDN14 (claudin 14) is a protein-coding gene. Diseases associated with CLDN14 include deafness, autosomal recessive 29, and dfnb29 nonsyndromic hearing loss and deafness. GO annotations related to this gene include structural molecule activity and identical protein binding. An important paralog of this gene is CLDN4.

UniProtKB/Swiss-Prot: CLD14_HUMAN, O95500
Function: Plays a major role in tight junction-specific obliteration of the intercellular space, through
calcium-independent cell-adhesion activity (By similarity)

Gene Wiki entry for CLDN14 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
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RefSeq DNA sequence:
NC_000021.9  NC_018932.2  NT_011512.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the CLDN14 gene promoter:
         GR   AML1a   c-Ets-1   FOXO1a   Chx10   ZID   GR-alpha   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCLDN14 promoter sequence

   Search Chromatin IP Primers for CLDN14

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CLDN14


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 21q22.3   Ensembl cytogenetic band:  21q22.13   HGNC cytogenetic band: 21q22.3
Nature(405: 311-319) cytogenetic band:   21q22.13
CLDN14 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CLDN14 gene location
GeneLoc information about chromosome 21         GeneLoc Exon Structure

(about GC identifiers)
GC21M037832:   GeneLoc Nature:405,311-319
Start:
37,832,919 bp from pter       23,409,717 bp from centromere
End:
37,948,867 bp from pter 23,410,436 bp from centromere
Size:
115,949 bases 720 bases
Orientation:
minus strand minus strand

Whole chromosome sequencing:
cDNA sequence: AJ132445
genomic clones: KB5G11 KB176G8


(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CLD14_HUMAN, O95500 (See protein sequence)
Recommended Name: Claudin-14  
Size: 239 amino acids; 25699 Da

Explore the universe of human proteins at neXtProt for CLDN14: NX_O95500

Explore proteomics data for CLDN14 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CLDN14 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001139549.1  NP_001139550.1  NP_001139551.1  NP_036262.1  NP_652763.1  

    ENSEMBL proteins: 
     ENSP00000382092   ENSP00000382090   ENSP00000382087   ENSP00000382088   ENSP00000339292  
    Reactome Protein details: O95500

    CLDN14 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CLDN: Claudins

    4 InterPro protein domains:
     IPR017974 Claudin_CS
     IPR003556 Claudin14
     IPR006187 Claudin
     IPR004031 PMP22/EMP/MP20/Claudin

    Graphical View of Domain Structure for InterPro Entry O95500

    ProtoNet protein and cluster: O95500

    2 Blocks protein domains:
    IPB003556 Claudin-14 signature
    IPB006187 Claudin family signature


    UniProtKB/Swiss-Prot: CLD14_HUMAN, O95500
    Similarity: Belongs to the claudin family


    CLDN14 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CLD14_HUMAN, O95500
    Function: Plays a major role in tight junction-specific obliteration of the intercellular space, through
    calcium-independent cell-adhesion activity (By similarity)

         Genatlas biochemistry entry for CLDN14:
    claudin 14,clostridium perfringens enterotoxin receptor-like,integral membrane protein,claudin family of major
    structural components of tight junction (TJ) strands

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity IEA--
    GO:0005515protein binding ----
    GO:0042802identical protein binding ISS--
         
    CLDN14 for ontologies           About GeneDecksing


    Phenotypes:
         5 GenomeRNAi human phenotypes for CLDN14:
     Cell cycle / mitosis defect  Decreased Salmonella enterica   Decreased Salmonella enterica   Decreased Salmonella-containin 
     Increased Salmonella enterica  

         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Cldn14):
     behavior/neurological  hearing/vestibular/ear  nervous system 

    CLDN14 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cldn14tm1Lex for CLDN14

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CLDN14
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CLDN14
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CLDN14

    miRNA
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    miRTarBase miRNAs that target CLDN14:
    hsa-mir-335-5p (MIRT017930)

    Block miRNA regulation of human, mouse, rat CLDN14 using miScript Target Protectors
    7 qRT-PCR Assays for microRNAs that regulate CLDN14:
    hsa-miR-9 hsa-miR-23b hsa-miR-130a* hsa-miR-374b hsa-miR-23a hsa-miR-374a hsa-miR-23c
    SwitchGear 3'UTR luciferase reporter plasmidCLDN14 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CLDN14

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    GenScript: all cDNA clones in your preferred vector (see all 5): CLDN14 (NM_144492)
    Sino Biological Human cDNA Clone for CLDN14
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CLDN14

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLDN14


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CLD14_HUMAN, O95500: Cell junction, tight junction. Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane5

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IDA16780588
    GO:0005886plasma membrane IDA16780588
    GO:0005923tight junction ISS--
    GO:0016021integral component of membrane IEA--

    CLDN14 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CLDN14 About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1Cell junction organization
    Cell junction organization0.70
    Cell-Cell communication0.64
    Cell-cell junction organization0.70
    Tight junction interactions0.51
    2Sertoli-Sertoli Cell Junction Dynamics
    Sertoli-Sertoli Cell Junction Dynamics0.38
    Epithelial Tight Junctions0.36
    3Integrin Pathway
    Transendothelial Migration of Leukocytes0.38
    4Cell adhesion Integrin mediated cell adhesion and migration
    Cell adhesion Tight junctions0.33
    5Tight junction
    Tight junction

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CLDN14
        Sertoli-Sertoli Cell Junction Dynamics
    Epithelial Tight Junctions
    Transendothelial Migration of Leukocytes

    2 GeneGo (Thomson Reuters) Pathways for CLDN14
        Cell adhesion Endothelial cell contacts by junctional mechanisms
    Cell adhesion Tight junctions


    1 Reactome Pathway for CLDN14
        Tight junction interactions


    4 Kegg Pathways  (Kegg details for CLDN14):
        Cell adhesion molecules (CAMs)
    Tight junction
    Leukocyte transendothelial migration
    Hepatitis C


    CLDN14 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CLDN14: 
              Tight Junctions in human mouse rat
              Cell Junction PathwayFinder in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for CLDN14

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CLDN14 (ENSP000003392924) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CLDN12ENSP000002879164STRING: ENSP00000287916
    CLDN15ENSP000003088704STRING: ENSP00000308870
    CLDN17ENSP000002868084STRING: ENSP00000286808
    CLDN18ENSP000001836054STRING: ENSP00000183605
    CLDN20ENSP000003561334STRING: ENSP00000356133
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006461protein complex assembly TAS7644498
    GO:0016338calcium-independent cell-cell adhesion ISS--
    GO:0034329cell junction assembly TAS--
    GO:0045216cell-cell junction organization TAS--
    GO:0070830tight junction assembly TAS--

    CLDN14 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CLDN14 (CLD14)

    1 HMDB Compound for CLDN14    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CLDN14 gene (5 alternative transcripts): 
    NM_001146077.1  NM_001146078.2  NM_001146079.1  NM_012130.3  NM_144492.2  

    Unigene Cluster for CLDN14:

    Claudin 14
    Hs.660278  [show with all ESTs]
    Unigene Representative Sequence: NM_144492
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000399139(uc002yvk.1) ENST00000399137(uc002yvl.1) ENST00000399135(uc002yvm.1)
    ENST00000399136(uc002yvn.1) ENST00000342108(uc002yvo.1) ENST00000478313

    miRNA
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    Block miRNA regulation of human, mouse, rat CLDN14 using miScript Target Protectors
    7 qRT-PCR Assays for microRNAs that regulate CLDN14:
    hsa-miR-9 hsa-miR-23b hsa-miR-130a* hsa-miR-374b hsa-miR-23a hsa-miR-374a hsa-miR-23c
    SwitchGear 3'UTR luciferase reporter plasmidCLDN14 3' UTR sequence
    Inhib. RNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CLDN14
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat CLDN14
      QuantiFast Probe-based Assays in human, mouse, rat CLDN14

    Additional mRNA sequence: 

    AF314090.1 AJ566765.1 AJ566766.1 AY355348.1 AY355349.1 AY358533.1 BC012126.1 

    3 DOTS entries:

    DT.91828499  DT.97836433  DT.100736513 

    23 AceView cDNA sequences:

    AJ566765 BM911659 AY358533 AY355349 AJ566766 BC012126 NM_012130 AY355348 
    BX101474 AW471454 BV198315 CD624232 CD624233 BG491506 NM_144492 BM559307 
    BQ056804 BV197190 AF314090 CD624236 AI655909 CD636896 BG491911 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CLDN14 (see all 6)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8
    SP1:        -     -     -           -     -     -         
    SP2:                    -           -     -     -         
    SP3:                                            -         
    SP4:                                                      
    SP5:                                                      


    ECgene alternative splicing isoforms for CLDN14

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CLDN14 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGTTTGAGA
    CLDN14 Expression
    About this image

    CLDN14 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CLDN14 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.660278

    UniProtKB/Swiss-Prot: CLD14_HUMAN, O95500
    Tissue specificity: Liver, kidney. Also found in ear

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CLDN14: 
              Tight Junctions in human mouse rat
              Cell Junction PathwayFinder in human mouse rat

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    QuantiFast Probe-based Assays in human, mouse, rat CLDN14
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLDN14

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CLDN14 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cldn141 , 5 claudin 141, 5 86.47(n)1
    93.31(a)1
      16 (54.99 cM)5
    561731  NM_001165926.11  NP_001159398.11 
     939190325 
    chicken
    (Gallus gallus)
    Aves CLDN141 claudin 14 70.98(n)
    71.98(a)
      427982  XM_004934537.1  XP_004934594.1 
    lizard
    (Anolis carolinensis)
    Reptilia CLDN146
    claudin 14
    73(a)
    1 ↔ 1
    3(141402322-141403029)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia cldn141 claudin 14 64.8(n)
    62.07(a)
      100491910  XM_004912119.1  XP_004912176.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cldn21 claudin 2 59(n)
    49.77(a)
      562525  NM_001004559.2  NP_001004559.2 


    ENSEMBL Gene Tree for CLDN14 (if available)
    TreeFam Gene Tree for CLDN14 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CLDN14 gene
    CLDN42  CLDN92  CLDN82  CLDN202  CLDN172  CLDN52  CLDN22  CLDN12  
    CLDN32  CLDN62  CLDN72  CLDN192  
    18 SIMAP similar genes for CLDN14 using alignment to 1 protein entry:     CLD14_HUMAN:
    CLDN7    CLDN2    CLDN4    CLDN19    CLDN9    CLDN1
    CLDN6    CLDN8    CLDN20    CLDN3    CLDN10    CLDN5
    CLDN18    CLDN24    CLDN17    CLDN22    CLDN15    CLDN25

    CLDN14 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CLDN14 (see all 2835)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0699824
    Deafness, autosomal recessive, 29 (DFNB29)4--see VAR_0699822 A V mis40--------
    VAR_0107384
    Deafness, autosomal recessive, 29 (DFNB29)4--see VAR_0107382 V D mis40--------
    VAR_0699814
    Deafness, autosomal recessive, 29 (DFNB29)4--see VAR_0699812 S I mis40--------
    VAR_0699794
    Deafness, autosomal recessive, 29 (DFNB29)4--see VAR_0699792 R H mis40--------
    VAR_0699834
    Deafness, autosomal recessive, 29 (DFNB29)4--see VAR_0699832 G R mis40--------
    rs743154381,2
    Cpathogenic128380611(-) TCATCA/GGGATG 10 R G mis10--------
    rs743154371,2
    Cpathogenic128380658(-) CATGGA/TCATCT 10 D V mis10--------
    rs1880151471,2
    --28379436(+) CCCAAA/TGTGCT 5 -- ds5001 int10--------
    rs1384571611,2
    C--28379493(+) TTTTT-/TACCAG 5 -- ds5001 int10--------
    rs2197811,2
    C,F,A,H--28379539(-) GGACGC/ATGTTT 5 -- ds5001 int119Minor allele frequency- A:0.23NS EA NA CSA WA 2219

    HapMap Linkage Disequilibrium report for CLDN14 (37832919 - 37948867 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CLDN14 (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2663397CNV Deletion23128226
    esv2582352CNV Deletion19546169
    esv1979371CNV Deletion18987734
    esv2723394CNV Deletion23290073
    esv2667105CNV Deletion23128226
    nsv3506CNV Insertion18451855
    nsv512637CNV Loss21212237
    nsv834090CNV Loss17160897
    esv7482CNV Loss19470904
    esv28981CNV Gain19812545

    Human Gene Mutation Database (HGMD): CLDN14
    Locus Specific Mutation Databases (LSDB): CLDN14

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605608   
    OMIM disorders: 614035  
    UniProtKB/Swiss-Prot: CLD14_HUMAN, O95500
  • 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 14 diseases for CLDN14:    
    About MalaCards
    deafness, autosomal recessive 29    dfnb29 nonsyndromic hearing loss and deafness    nonsyndromic hearing loss and deafness, autosomal recessive    deafness, autosomal recessive 76
    nonsyndromic hearing loss and deafness    nephrolithiasis    nonsyndromic deafness    sensorineural hearing loss
    tonsillitis    endotheliitis    hepatitis c    hepatitis
    multiple myeloma    myeloma

    2 diseases from the University of Copenhagen DISEASES database for CLDN14:
    Nephrolithiasis     Nonsyndromic deafness

    CLDN14 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CLDN14
    Human Genome Epidemiology (HuGE) Navigator: CLDN14 (3 documents)

    Export disorders for CLDN14 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CLDN14 gene, integrated from 10 sources (see all 33):
    (articles sorted by number of sources associating them with CLDN14)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29. (PubMed id 11163249)1, 2, 3 Wilcox E.R.... Friedman T.B. (Cell 2001)
    2. Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss. (PubMed id 12791041)1, 2, 9 Uyguner O.... Wollnik B. (Clin. Genet. 2003)
    3. Analysis of CLDN14 gene in deaf Moroccan patients with non-syndromic hearing loss. (PubMed id 23590985)1, 2 Charif M....Barakat A. (Gene 2013)
    4. Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population. (PubMed id 23235333)1, 2 Bashir Z.E....Riazuddin S. (J. Hum. Genet. 2013)
    5. Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss. (PubMed id 22246673)1, 2 Lee K....Leal S.M. (Am. J. Med. Genet. A 2012)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    7. Mutation in gap and tight junctions in patients with non-syndromic hearing loss. (PubMed id 19254696)1, 4 Belguith H....Masmoudi S. (Biochem. Biophys. Res. Commun. 2009)
    8. Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density. (PubMed id 19561606)1, 4 Thorleifsson G....Stefansson K. (Nat. Genet. 2009)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 23562 HGNC: 2035 AceView: CLDN14 Ensembl:ENSG00000159261 euGenes: HUgn23562
    ECgene: CLDN14 Kegg: 23562 H-InvDB: CLDN14

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for CLDN14 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for CLDN14 gene:
    Search GeneIP for patents involving CLDN14

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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