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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CLDN4 Gene

protein-coding   GIFtS: 63
GCID: GC07P073213

Claudin 4


(Previous symbols: CPETR, CPETR1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Claudin 41 2     CPE-R2 3
CPETR11 2 3 5     CPE-receptor2 3
Williams-Beuren Syndrome Chromosomal Region 8 Protein1 2 3     WBSCR82 3
CPER2 3 5     claudin-42
CPETR1 2     hCPE-R2
Clostridium Perfringens Enterotoxin Receptor 11 2     Clostridium Perfringens Enterotoxin Receptor3

External Ids:    HGNC: 20461   Entrez Gene: 13642   Ensembl: ENSG000001891437   OMIM: 6029095   UniProtKB: O144933   

Export aliases for CLDN4 gene to outside databases

Previous GC identifers: GC07P071885 GC07P072643 GC07P072657 GC07P072654 GC07P072686 GC07P072880 GC07P069128


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CLDN4 Gene:
The protein encoded by this intronless gene belongs to the claudin family. Claudins are integral membrane proteins
that are components of the epithelial cell tight junctions, which regulate movement of solutes and ions through
the paracellular space. This protein is a high-affinity receptor for Clostridium perfringens enterotoxin (CPE)
and may play a role in internal organ development and function during pre- and postnatal life. This gene is
deleted in Williams-Beuren syndrome, a neurodevelopmental disorder affecting multiple systems. (provided by
RefSeq, Sep 2013)

GeneCards Summary for CLDN4 Gene: 
CLDN4 (claudin 4) is a protein-coding gene. Diseases associated with CLDN4 include ovarian cystadenoma, and williams-beuren syndrome, and among its related super-pathways are Cell-cell junction organization and Sertoli-Sertoli Cell Junction Dynamics. GO annotations related to this gene include transmembrane signaling receptor activity and identical protein binding. An important paralog of this gene is CLDN9.

UniProtKB/Swiss-Prot: CLD4_HUMAN, O14493
Function: Plays a major role in tight junction-specific obliteration of the intercellular space (By similarity)

Gene Wiki entry for CLDN4 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.2  NT_007933.15  NT_079593.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CLDN4 gene promoter:
         TBP   AML1a   Sp1   Pax-2   Pax-2a   Nkx2-5   c-Rel   E2F-1   CP2   E2F   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): CLDN4 promoter sequence
   Search SABiosciences Chromatin IP Primers for CLDN4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CLDN4


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

Entrez Gene cytogenetic band: 7q11.23   Ensembl cytogenetic band:  7q11.23   HGNC cytogenetic band: 7q11.23

CLDN4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CLDN4 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P073213:  view genomic region     (about GC identifiers)

Start:
73,213,872 bp from pter      End:
73,247,015 bp from pter
Size:
33,144 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 72,578,265-72,580,087     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CLD4_HUMAN, O14493 (See protein sequence)
Recommended Name: Claudin-4  
Size: 209 amino acids; 22077 Da
Subunit: Directly interacts with TJP1/ZO-1, TJP2/ZO-2 and TJP3/ZO-3. Interacts with EPHA2; phosphorylates CLDN4
and may regulate tight junctions
Subcellular location: Cell junction, tight junction (By similarity). Cell membrane; Multi-pass membrane protein
(By similarity)

Explore the universe of human proteins at neXtProt for CLDN4: NX_O14493

Explore proteomics data for CLDN4 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated. Phosphorylation by EPHA2 is stimulated by EFNA1 and alters interaction with TJP1
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O14493

  • CLDN4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CLDN4 Protein Expression
    REFSEQ proteins: NP_001296.1  
    ENSEMBL proteins: 
     ENSP00000409544   ENSP00000388639   ENSP00000342445  
    Reactome Protein details: O14493
    Human Recombinant Protein Products for CLDN4: 
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    Novus Biologicals CLDN4 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for CLDN4
    Cloud-Clone Corp. Proteins for CLDN4 

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS9334247
    GO:0005887integral to plasma membrane TAS9334247
    GO:0005923tight junction ISS--
    GO:0009925basal plasma membrane IEA--
    GO:0016021integral to membrane ----

    CLDN4 for ontologies           About GeneDecksing



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    LSBio Antibodies in human, mouse, rat for CLDN4 

    Assay Products for CLDN4: 
    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. CLIAs for CLDN4


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

    4 InterPro protein domains:
     IPR003550 Claudin4
     IPR017974 Claudin_CS
     IPR006187 Claudin
     IPR004031 PMP22/EMP/MP20/Claudin

    Graphical View of Domain Structure for InterPro Entry O14493

    ProtoNet protein and cluster: O14493

    2 Blocks protein domains:
    IPB003550 Claudin-4 signature
    IPB006187 Claudin family signature


    UniProtKB/Swiss-Prot: CLD4_HUMAN, O14493
    Similarity: Belongs to the claudin family


    CLDN4 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CLD4_HUMAN, O14493
    Function: Plays a major role in tight junction-specific obliteration of the intercellular space (By similarity)

         Genatlas biochemistry entry for CLDN4:
    claudin 4,clostridium perfringens enterotoxin receptor 4,situated in the Williams-Beuren critical region,high
    affinity,claudin family of major structural components of tight junction (TJ) strands,expressed in lung,intestine
    and kidney

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004888transmembrane signaling receptor activity TAS9334247
    GO:0005198structural molecule activity IEA--
    GO:0005515protein binding ----
    GO:0042802identical protein binding ISS--
         
    CLDN4 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CLDN4:
     Increased cell death HMECs cel 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cldn4):
     cellular  homeostasis/metabolism  mortality/aging  renal/urinary system 

    CLDN4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cldn4tm1.1Yham for CLDN4

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CLDN4 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CLDN4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CLDN4 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CLDN4 

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    hsa-miR-520d-5p hsa-miR-3674 hsa-miR-524-5p hsa-miR-1914 hsa-miR-4267
    SwitchGear 3'UTR luciferase reporter plasmidCLDN4 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLDN4


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CLDN4 About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Cell-cell junction organization
    Cell-cell junction organization0.69
    Cell-Cell communication0.64
    Cell junction organization0.69
    Tight junction interactions0.49
    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

    1 EMD Millipore Pathway for CLDN4
        Cell adhesion Tight junctions

    3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CLDN4
        Sertoli-Sertoli Cell Junction Dynamics
    Epithelial Tight Junctions
    Transendothelial Migration of Leukocytes

    1 GeneGo (Thomson Reuters) Pathway for CLDN4
        Cell adhesion Tight junctions

    4        Reactome Pathways for CLDN4
        Tight junction interactions
    Cell junction organization
    Cell-Cell communication
    Cell-cell junction organization


    4         Kegg Pathways  (Kegg details for CLDN4):
        Cell adhesion molecules (CAMs)
    Tight junction
    Leukocyte transendothelial migration
    Hepatitis C


    CLDN4 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CLDN4

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

    5/28 Interacting proteins for CLDN4 (O144933 ENSP000003424454) via UniProtKB, MINT, STRING, and/or I2D (see all 28)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TJP1Q071573, ENSP000002815374I2D: score=3 STRING: ENSP00000281537
    EPHA2P293173, ENSP000003512094I2D: score=1 STRING: ENSP00000351209
    WNK4Q96J923, ENSP000002469144I2D: score=1 STRING: ENSP00000246914
    SHBGP042783, ENSP000003698164I2D: score=2 STRING: ENSP00000369816
    CLDN1ENSP000002955224STRING: ENSP00000295522
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007565female pregnancy IEA--
    GO:0016338calcium-independent cell-cell adhesion ISS--
    GO:0032570response to progesterone stimulus IEA--

    CLDN4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CLDN4 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CLDN4 (CLD4)

    10 Novoseek inferred chemical compound relationships for CLDN4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    enterotoxin 72.7 18 11691807 (2), 9520948 (2), 18648369 (1), 18569027 (1) (see all 13)
    dextran 46.8 3 20096266 (2)
    ochratoxin a 27.7 2 17107771 (1), 17359339 (1)
    dexamethasone 1.28 1 15817472 (1)
    sodium 0 1 11375422 (1)
    calcium 0 3 15753385 (2), 15305371 (1)
    progesterone 0 3 18752049 (1), 19557595 (1)
    tyrosine 0 4 16236711 (1), 16107502 (1)
    estrogen 0 4 18752049 (1), 15472219 (1)
    serine 0 1 16107502 (1)

    Search CenterWatch for drugs/clinical trials and news about CLDN4 / CLD4

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CLDN4 gene: 
    NM_001305.4  

    Unigene Clusters for CLDN4:

    Claudin 4
    Hs.647036  [show with all ESTs], Hs.729359  [show with all ESTs]
    Unigene Representative Sequences: NM_001305, AK126462
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000466411 ENST00000435050(uc003tzh.1) ENST00000476494 ENST00000431918
    ENST00000340958(uc003tzi.4)
    miRNA
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    hsa-miR-520d-5p hsa-miR-3674 hsa-miR-524-5p hsa-miR-1914 hsa-miR-4267
    SwitchGear 3'UTR luciferase reporter plasmidCLDN4 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AK126315.1 AK126462.1 BC015647.1 

    21 DOTS entries:

    DT.95091246  DT.91776441  DT.97856299  DT.100827425  DT.100827398  DT.100827421  DT.102833417  DT.100827417 
    DT.121098604  DT.100753784  DT.100800944  DT.100802208  DT.100802674  DT.100827410  DT.100827424  DT.121098642 
    DT.91822771  DT.95091223  DT.120722605  DT.121098647  DT.40241034 

    24/730 AceView cDNA sequences (see all 730):

    BU540624 AB000712 CR616350 CR599105 CR614074 CR613719 BM762973 BP351419 
    AW589514 AA411444 BM742672 BM819688 BM742023 CF527922 BM820178 CR616848 
    CR612437 BM818811 AA574043 CR616166 AI335984 CA489795 CR620422 CA426597 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for CLDN4    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4
    SP1:        -     -           -         
    SP2:              -                     
    SP3:                                    


    ECgene alternative splicing isoforms for CLDN4

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CLDN4 expression in normal human tissues (normalized intensities)      CLDN4 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATCGTGGCGG
    CLDN4 Expression
    About this image


    CLDN4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Kidney (Urinary System)    fully expand to see all 5 entries
             Collecting Duct Cells Renal Collecting Duct System
             Renal Collecting Duct System
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 3 entries
             Foregut Endoderm Cells Foregut
             Foregut
     
     Colon (Gastrointestinal Tract)
             rectum   
     
     Inner Cell Mass (Early Embryonic Tissues)
             Sox17-GFP genetically modified stem cells
     
     Lower Urinary Tract (Urinary System)
             visceral organ/urethra of male   

    See CLDN4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CLDN4

    SOURCE GeneReport for Unigene clusters: Hs.647036 Hs.729359
        SABiosciences Expression via Pathway-Focused PCR Arrays including CLDN4: 
              Tight Junctions in human mouse rat
              Cell Junction PathwayFinder in human mouse rat

    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CLDN4
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLDN4

    (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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for CLDN4 gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cldn41 , 5 claudin 41, 5 82.62(n)1
    83.73(a)1
      5 (74.90 cM)5
    127401  NM_009903.21  NP_034033.11 
     1349451265 
    chicken
    (Gallus gallus)
    Aves CLDN41 claudin 4 76.24(n)
    72.73(a)
      395144  XM_003642382.1  XP_003642430.1 
    lizard
    (Anolis carolinensis)
    Reptilia CLDN46
    --
    Uncharacterized protein
    72(a)
    63(a)
    1 ↔ 1
    possible ortholog
    GL343462.1(618785-619414)
    GL343287.1(1340428-1341072)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.62912 Xenopus laevis transcribed sequence with moderate similarity more 80.62(n)    48060189 
    zebrafish
    (Danio rerio)
    Actinopterygii AF359426.12   -- 76.11(n)   81581  AF359426.1 


    ENSEMBL Gene Tree for CLDN4 (if available)
    TreeFam Gene Tree for CLDN4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CLDN4 gene
    CLDN92  CLDN82  CLDN202  CLDN172  CLDN52  CLDN102  CLDN22  CLDN152  
    CLDN12  CLDN32  CLDN142  CLDN62  CLDN72  CLDN192  
    18 SIMAP similar genes for CLDN4 using alignment to 2 protein entries:     CLD4_HUMAN (see all proteins):
    CLDN3    CLDN9    CLDN6    CLDN7    CLDN5    CLDN1
    CLDN17    CLDN8    CLDN14    CLDN19    CLDN2    CLDN20
    CLDN10    CLDN18    CLDN24    CLDN15    CLDN22    CLDN25

    CLDN4 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/23 SNPs in CLDN4 are shown (see all 23)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1380709931,2
    --76768271(+) CTTTTC/TCTTTT 1 -- us2k10--------
    rs775339951,2
    C--76768400(+) GCTGGA/GATTAT 1 -- us2k10--------
    rs1152909171,2
    F--76768427(+) AACCAC/TTCCTC 1 -- us2k11Minor allele frequency- T:0.02WA 118
    rs1877525031,2
    --76768510(+) CTTCTA/GGGAGC 1 -- us2k10--------
    rs765128761,2
    C,F--76768558(+) ACCACA/GATACC 1 -- us2k11Minor allele frequency- G:0.03NA 120
    rs1436701151,2
    --76768734(+) GCTCAA/GGGACT 1 -- us2k10--------
    rs47178221,2
    C,F,A,H--76768846(+) CATGGG/TTGGGA 1 -- us2k125Minor allele frequency- T:0.40NS EA NA WA CSA EU 3058
    rs1931437791,2
    --76768902(+) CGGTGC/TGGCTG 1 -- us2k10--------
    rs1472178251,2
    --76768989(+) CAAGCC/TCTTCC 1 -- us2k10--------
    rs771892421,2
    F--76769240(+) CATCCC/TAGAAT 1 -- us2k11Minor allele frequency- T:0.03WA 118

    HapMap Linkage Disequilibrium report for CLDN4 (73213872 - 73247015 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for CLDN4:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv888372CNV Loss21882294
    nsv831029CNV Loss17160897

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602909    OMIM disorders: --

    UniProtKB/Swiss-Prot: CLD4_HUMAN, O14493
  • Note=CLDN4 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a
    hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing
    over between highly homologous low-copy repeat sequences flanking the deleted region

  • 20/49 diseases for CLDN4 (see all 49):    About MalaCards
    ovarian cystadenoma    williams-beuren syndrome    obstructive jaundice    gastric adenocarcinoma
    uterine carcinosarcoma    cystadenoma    biliary tract cancer    lung squamous cell carcinoma
    jaundice    papillary carcinoma    prostate cancer, progression of    epididymitis
    pancreatic cancer    tonsillitis    neuroendocrine tumor    prostate adenocarcinoma
    ulcerative colitis    gastric cancer    bladder carcinoma    lung adenocarcinoma

    2 diseases from the University of Copenhagen DISEASES database for CLDN4:
    Carcinoma     Ovarian cancer

    CLDN4 for disorders           About GeneDecksing

    10/25 Novoseek inferred disease relationships for CLDN4 gene (see all 25)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ovarian cystadenoma 63.6 1 12855632 (1)
    ovarian cancer 50 21 17678893 (4), 12855632 (3), 17653889 (2), 19657234 (2) (see all 11)
    carcinoma papillary 46.2 2 18313739 (1), 17962811 (1)
    adenocarcinoma 44.6 14 16287068 (2), 17647191 (2), 15693851 (2), 15643498 (1) (see all 9)
    ovarian carcinoma 43.1 9 17647191 (3), 19567823 (2), 15277215 (1), 12855632 (1)
    epithelial tumor 41 1 17609977 (1)
    gastric carcinoma 40.2 3 18251778 (2), 16220299 (1)
    tumors 40 41 15693851 (4), 15643498 (3), 16439986 (3), 18439941 (2) (see all 24)
    gastric cancer 39.5 18 18283635 (5), 15643498 (4), 16969486 (3), 17459057 (2) (see all 5)
    carcinoma 37.8 17 18752049 (3), 15743508 (1), 18439941 (1), 17804705 (1) (see all 11)


    Export disorders for CLDN4 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)
    About This Section

    PubMed articles for CLDN4 gene, integrated from 9 sources (see all 218):
    (articles sorted by number of sources associating them with CLDN4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Clostridium perfringens enterotoxin utilizes two structurally related membrane proteins as functional receptors in vivo. (PubMed id 9334247)1, 2, 3, 9 Katahira J....Sugimoto N. (1997)
    2. EphA2 phosphorylates the cytoplasmic tail of Claudin-4 and mediates paracellular permeability. (PubMed id 16236711)1, 2, 9 Tanaka M....Sakai R. (2005)
    3. 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. (2004)
    4. Claudin multigene family encoding four-transmembrane domain protein components of tight junction strands. (PubMed id 9892664)1, 3 Morita K....Tsukita S. (1999)
    5. Endometrial claudin-4 and leukemia inhibitory factor are associated with assisted reproduction outcome. (PubMed id 19374770)1, 9 Serafini P.C....Baracat E.C. (2009)
    6. Altered expression of claudin-3 and claudin-4 in ectopic endometrium of women with endometriosis. (PubMed id 18384777)1, 9 Pan X.Y....Wang B. (2009)
    7. Expression of matrix metalloproteinases MMP-2 and MMP-9 in gastric cancer and their relation to claudin-4 expression. (PubMed id 18283635)1, 9 Lee L.Y....Hwang T.L. (2008)
    8. [Expression of prostate stem cell antigen and Claudin-4 in human pancreatic carcinoma] (PubMed id 19180924)1, 9 Yagn W.B....Qin Z.Y. (2008)
    9. Phosphorylation of claudin-4 is required for tight junction formation in a human keratinocyte cell line. (PubMed id 18786529)1, 9 Aono S. and Hirai Y. (2008)
    10. Claudin-4 differentiates biliary tract cancers from hepatocellular carcinomas. (PubMed id 16439986)1, 9 Lodi C....Schaff Z. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    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
    Entrez Gene: 1364 HGNC: 2046 AceView: CLDN4 Ensembl:ENSG00000189143 euGenes: HUgn1364
    ECgene: CLDN4 Kegg: 1364 H-InvDB: CLDN4

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CLDN4 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CLDN4 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CLDN4 gene:
    Search GeneIP for patents involving CLDN4

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



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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