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

CLDN5 Gene

protein-coding   GIFtS: 64
GCID: GC22M019510

claudin 5

(Previous name: transmembrane protein deleted in velocardiofacial syndrome...)
(Previous symbols: AWAL, TMVCF)
 Explore 49 diseases affiliated with
CLDN5 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for CLDN5    

Aliases
for CLDN5 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Claudin 51 2     Transmembrane Protein Deleted In Velocardiofacial Syndrome1 2
AWAL1 2 3 5     Transmembrane Protein Deleted In VCFS2 3
TMVCF1 2 3 5     TMDVCF2 3
BEC11 2     Claudin-51
CPETRL11 2     

External Ids:    HGNC: 20471   Entrez Gene: 71222   Ensembl: ENSG000001841137   OMIM: 6021015   UniProtKB: O005013   

Export aliases for CLDN5 gene to outside databases

Previous GC identifers: GC22M016450 GC22M017885 GC22M003131


Summaries
for CLDN5 gene

(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 CLDN5:
This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight
junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely
through the paracellular space between epithelial or endothelial cell sheets. Mutations in this gene have been found
in patients with velocardiofacial syndrome. Alternatively spliced transcript variants encoding the same protein have
been found for this gene. (provided by RefSeq, Aug 2008)

UniProtKB/Swiss-Prot: CLD5_HUMAN, O00501
Function: Plays a major role in tight junction-specific obliteration of the intercellular space (By similarity)

Gene Wiki entry for CLDN5


Genomic Views
for CLDN5 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NC_018933.1  NT_011519.10  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CLDN5 gene promoter:
         TBP   Spz1   ATF-2   MyoD   GATA-1   PPAR-alpha   CRE-BP1   c-Myb   AP-2alpha   Zic3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CLDN5 promoter sequence
   Search SABiosciences Chromatin IP Primers for CLDN5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CLDN5


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

Entrez Gene cytogenetic band: 22q11.21   Ensembl cytogenetic band:  22q11.21   HGNC cytogenetic band: 22q11.21

CLDN5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CLDN5 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M019510:  view genomic region     (about GC identifiers)

Start:
 19,510,547 bp from pter      End:
 19,515,068 bp from pter
Size:
 4,522 bases      Orientation:
 minus strand

Proteins
for CLDN5 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: CLD5_HUMAN, O00501 (See protein sequence)
Recommended Name: Claudin-5  
Size: 218 amino acids; 23147 Da
Subunit: Directly interacts with TJP1/ZO-1, TJP2/ZO-2 and TJP3/ZO-3. Interacts with MPDZ (By similarity)
Subcellular location: Cell junction, tight junction. Cell membrane; Multi-pass membrane protein
Secondary accessions: B3KS11 Q53XW2 Q8WUW3

Explore the universe of human proteins at neXtProt for CLDN5: NX_O00501

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O00501

    • CLDN5 Protein expression data from MOPED and PaxDb:    About this image 
    CLDN5 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001124333.1  NP_003268.2  

    ENSEMBL proteins: 
     ENSP00000385477   ENSP00000384554   ENSP00000400612  
    Reactome Protein details: O00501
    Human Recombinant Protein Products for CLDN5: 
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    Novus Biologicals CLDN5 Proteins
    Novus Biologicals CLDN5 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for CLDN5

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--
    GO:0005911cell-cell junction IDA18065521
    GO:0005923tight junction ISS--
    GO:0016021integral to membrane IEA--
    GO:0033270paranode region of axon IEA--

    CLDN5 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for CLDN5

    Protein Domains /
    Families
    for CLDN5 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CLDN5 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR017974 Claudin_CS
     IPR003551 Claudin5
     IPR006187 Claudin
     IPR004031 PMP22/EMP/MP20/Claudin

    Graphical View of Domain Structure for InterPro Entry O00501

    ProtoNet protein and cluster: O00501

    2 Blocks protein families:
    IPB003551 Claudin-5 signature
    IPB006187 Claudin family signature


    UniProtKB/Swiss-Prot: CLD5_HUMAN, O00501
    Similarity: Belongs to the claudin family


    Function
    for CLDN5 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CLD5_HUMAN, O00501
    Function: Plays a major role in tight junction-specific obliteration of the intercellular space (By similarity)

         Genatlas biochemistry entry for CLDN5:
    claudin 5,clostridium perfringens enterotoxin receptor-like,transmembrane protein,integral membrane protein,claudin
    family of major structural components of tight junction (TJ) strands,expressed in lung,heart,skeletal muscle,homolog
    to rat ventral prostate protein,deleted in velocardiofacial syndrome,DiGeorge region

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity IEA--
    GO:0005515protein binding ----
    GO:0042802identical protein binding ISS--
         
    CLDN5 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CLDN5:
     Decreased viability with pacli 

         3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Cldn5):
     cardiovascular system  mortality/aging  nervous system 

    CLDN5 for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-out Cldn5tm1Sts for CLDN5
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CLDN5 

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmid: CLDN5 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CLDN5 (see all 7)
    OriGene shRNA RFP: CLDN5
    OriGene siRNA: CLDN5
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    Sirion Biotech Custom design and validation of potent shRNA sequences against CLDN5 

    Gene Editing
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    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CLDN5 (see all 5)
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    Cell Line
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    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLDN5


    Pathways & Interactions
    for CLDN5 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/10 super-pathways (see all 10) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Cell-cell junction organization
    		Cell-cell junction organization1.00
    		Tight junction interactions0.49
    		Cell junction organization0.69
    		Cell-Cell communication0.45
    2Cell adhesion Tight junctions
    		Cell adhesion Tight junctions1.00
    		Cell adhesion_Tight junctions0.99
    3Cell adhesion Endothelial cell contacts by junctional mechanisms
    		Cell adhesion Endothelial cell contacts by junctional mechanisms1.00
    		Cell adhesion_Endothelial cell contacts by junctional mechanisms0.97
    4Sertoli-Sertoli Cell Junction Dynamics
    		Sertoli-Sertoli Cell Junction Dynamics1.00
    		Epithelial Tight Junctions0.36
    5Diurnally regulated genes with circadian orthologs
    		Diurnally regulated genes with circadian orthologs1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 EMD Millipore Pathways for CLDN5
        Cell adhesion Tight junctions
    Cell adhesion Endothelial cell contacts by junctional mechanisms

    3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CLDN5
        Sertoli-Sertoli Cell Junction Dynamics
    Epithelial Tight Junctions
    Transendothelial Migration of Leukocytes

    2 GeneGo (Thomson Reuters) Pathways for CLDN5
        Cell adhesion Endothelial cell contacts by junctional mechanisms
    Cell adhesion Tight junctions

    1 BioSystems Pathway for CLDN5 
        Diurnally regulated genes with circadian orthologs

    4        Reactome Pathways for CLDN5
        Tight junction interactions
    Cell junction organization
    Cell-Cell communication
    Cell-cell junction organization


    4         Kegg Pathways  (Kegg details for CLDN5):
        Cell adhesion molecules (CAMs)
    Tight junction
    Leukocyte transendothelial migration
    Hepatitis C


    CLDN5 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CLDN5

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

    5/26 Interacting proteins for CLDN5 (O005013 ENSP000003845544) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TJP1Q071573, ENSP000002815374I2D: score=3 STRING: ENSP00000281537
    CLDN1O958323, ENSP000002955224I2D: score=1 STRING: ENSP00000295522
    CLDN3O155513, ENSP000003785774I2D: score=2 STRING: ENSP00000378577
    MPDZO759703, ENSP000003704104I2D: score=2 STRING: ENSP00000370410
    CLDN10ENSP000002993394STRING: ENSP00000299339
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016338calcium-independent cell-cell adhesion ISS--
    GO:0042552myelination IEA--

    CLDN5 for ontologies           About GeneDecksing



    Drugs & Compounds
    for CLDN5 gene

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

    CLDN5 for compounds           About GeneDecksing

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

    Browse Tocris compounds for CLDN5
    2 Novoseek chemical compound relationships for CLDN5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    oligonucleotide 1.92 1 16192992 (1)
    calcium 0 1 18941231 (1)

    Search CenterWatch for drugs/clinical trials and news about CLDN5 / CLD5 

    Transcripts
    for CLDN5 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for CLDN5 gene (2 alternative transcripts): 
    NM_001130861.1  NM_003277.3  

    Unigene Cluster for CLDN5:

    Claudin 5
    Hs.505337  [show with all ESTs]
    Unigene Representative Sequence: AK124019
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000406028 ENST00000403084(uc010grr.2) ENST00000413119(uc002zpu.2)


    miRNA
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    Inhib. RNA
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    OriGene shRNA RFP: CLDN5
    OriGene siRNA: CLDN5
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    Sirion Biotech Custom design and validation of potent shRNA sequences against CLDN5 
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): CLDN5 (NM_003277)
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    Additional cDNA sequence: 

    AF000959.1 AK092561.1 AK124019.1 AK222466.1 BC002404.2 BC019290.1 BC032363.1 BT007254.1 
    CR456420.1 

    6 DOTS entries:

    DT.101960841  DT.452060  DT.95140671  DT.86853460  DT.91930373  DT.95140670 

    24/249 AceView cDNA sequences (see all 249):

    BM971782 AA918849 BI789205 F26071 AI312842 BM679556 CR616127 BU071256 
    BF224013 BU688528 CB990964 CB993088 BU688094 AK124019 CD515397 AI800076 
    BG742856 CR609826 AI973012 BF530060 BI439642 AI341205 BI789073 BI962693 

    GeneLoc Exon Structure


    Expression
    for CLDN5 gene

    (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

    CLDN5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GACCGCGGCT
    CLDN5 Expression
    About this image

    CLDN5 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    10/11 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 11) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainChoroid PlexusMature Choroid Plexus CellsChoroid Plexus
    Extraembryonic MesodermExtraembryonic Capillary PlexusExtraembryonic AngioblastsEndothelium
    HeartPrimitive Heart TubePrimitive Heart Tube CellsMyocardium
    Skeletal MuscleHyoid Arch MusclesMyoblastsSkeletal Muscle
    Skeletal MuscleMandibular Arch MusclesMyoblastsSkeletal Muscle
    AdiposeVisceral White AdiposeAdipose
    HeartHeart TubeHeart
    KidneyMetanephrosKidney
    KidneyRenal VesicleKidney
    KidneyS-shaped BodyKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 10 LifeMap Cells 
    NameCategory
    PureStem™ endothelial progenitor 30-MV2-12 (Embryonic Progenitor Cell)Blood, Endothelium
    PureStem™ endothelial Progenitor 30-SM2-3 (Embryonic Progenitor Cell)Blood, Endothelium
    PureStem™ endothelial progenitor 30-SM2-1 (Embryonic Progenitor Cell)Endothelium
    PureStem™ endothelial progenitor RP1-MV2-18 (Embryonic Progenitor Cell)Endothelium
    PureStem™ endothelial progenitor 30-MV2-14 (Embryonic Progenitor Cell)Endothelium
    Brain microvascular endothelial cells (Derivation of blood-...)
    Embryoid bodies (Generation of adipoc...)
    Endothelial cells (Derivation of blood-...)
    Endothelial cells and neural cells (Derivation of blood-...)
    Alveolar type II cells (Derivation of mature...)Lung

    See CLDN5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CLDN5

    SOURCE GeneReport for Unigene cluster: Hs.505337
        SABiosciences Expression via Pathway-Focused PCR Arrays including CLDN5: 
              Tight Junctions in human mouse rat
              Cell Junction PathwayFinder in human mouse rat

    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLDN5

    Orthologs
    for CLDN5 gene

    (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 CLDN5 gene from 3/11 species (see all 11)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves CLDN51 claudin 5 76.85(n)
    70.83(a)    		   374028  NM_204201.1  NP_989532.1 
    African clawed frog
    (Xenopus laevis)    		 Amphibia BC060483.12   -- 74.79(n)    BC060483.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii cldn5a1 claudin 5a 67.75(n)
    57.67(a)    		   406559  NM_213274.1  NP_998439.1 


    ENSEMBL Gene Tree for CLDN5 (if available)
    TreeFam Gene Tree for CLDN5 (if available) 

    Paralogs
    for CLDN5 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CLDN5 gene
    CLDN92  CLDN42  CLDN82  CLDN202  CLDN172  CLDN22  CLDN102  CLDN152  
    CLDN32  CLDN12  CLDN142  CLDN192  CLDN62  CLDN72  
    18 SIMAP similar genes for CLDN5 using alignment to 2 protein entries:     CLD5_HUMAN (see all proteins):
    CLDN4    CLDN9    CLDN6    CLDN7    CLDN3    CLDN19
    CLDN8    CLDN1    CLDN2    CLDN10    CLDN17    CLDN14
    CLDN20    CLDN15    CLDN18    CLDN24    CLDN22    CLDN25

    CLDN5 for paralogs           About GeneDecksing



    Genomic Variants
    for CLDN5 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/86 NCBI SNPs in CLDN5 are shown (see all 86)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 22 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1407439681,2
    		--19510287(+) GCCCCC/TGCCCC 2 -- ds50010--------
    rs1840568001,2
    		--19510350(+) GATCCC/TGCCTT 2 -- ds50010--------
    rs1496652521,2
    		--19510520(+) AAGATA/GGCTGG 2 -- ds50010--------
    rs1865773731,2
    		--19510546(+) CAGGTA/GGGAGA 2 -- ds50010--------
    rs1117605831,2
    		C--19510549(+) GTGGGT/AGAGAG 2 -- ut311Minor allele frequency- A:0.00CSA 1
    rs1147748161,2
    		F--19510585(+) TTAGCC/TTTCCC 2 -- ut311Minor allele frequency- T:0.02WA 118
    rs103141,2
    		C,F,H--19510718(-) GTACAG/CCTGGT 2 -- ut31 ese313Minor allele frequency- C:0.31MN NA NS EA CSA WA 1173
    rs454856951,2
    		C--19510744(+) GGCCCT/CGGGCT 2 -- ut312Minor allele frequency- C:0.06CSA WA 120
    rs115512561,2
    		--19510816(+) CCAGCA/GTCTTG 2 -- ut31 ese30--------
    rs1907958611,2
    		--19510870(+) GAAACA/TGCGCC 2 -- ut310--------

    HapMap Linkage Disequilibrium report for CLDN5 (19510547 - 19515068 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for CLDN5
         2 CNVs: 8901 31071

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for CLDN5 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    CLDN5 for disorders           About GeneDecksing

    OMIM gene information: 602101    OMIM disorders: --

    20/49 diseases for CLDN5 (see all 49):    About MalaCards
    velocardiofacial syndrome    chronic inflammatory demyelinating polyneuropathy    gray platelet syndrome    usual interstitial pneumonia
    demyelinating polyneuropathy    cerebral artery occlusion    venous insufficiency    cerebrovascular accident
    barrett's esophagus    diabetic ketoacidosis    pancreatoblastoma    polyneuropathy
    squamous cell carcinoma    lung squamous cell carcinoma    brain edema    peripheral neuropathy
    hemangioendothelioma    diabetic retinopathy    brain ischemia    myocardial infarction

    2 diseases from the University of Copenhagen DISEASES database for CLDN5:
    Brain edema     Brain glioma

    9 Novoseek disease relationships for CLDN5 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    edema 36.7 3 16786176 (2)
    epithelial tumor 34.8 1 16990707 (1)
    glioblastoma multiforme 33.8 1 10965803 (1)
    adenocarcinoma 15.5 10 17585317 (2), 20044634 (2), 19231096 (1), 17614851 (1)
    carcinoma squamous cell 4.6 6 17585317 (2), 19231096 (1), 17614851 (1)
    inflammation 3.9 2 18799677 (2)
    tumors 0 6 17585317 (2), 19194274 (1), 10965803 (1)
    carcinoma 0 3 20044634 (1), 16990707 (1)
    immunodeficiency 0 2 15815581 (1), 18187566 (1)

    Genetic Association Database (GAD): CLDN5
    Human Genome Epidemiology (HuGE) Navigator: CLDN5 (4 documents)

    Export disorders for CLDN5 gene to outside databases

    Publications
    for CLDN5 gene

    (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 CLDN5 gene, integrated from 9 sources (see all 151):
    (articles sorted by number of sources associating them with CLDN5)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification, characterization, and precise mapping of a human gene encoding a novel membrane-spanning protein from the 22q11 region deleted in velo-cardio-facial syndrome. (PubMed id 9192844)1, 2, 3, 9 Sirotkin H.... Kucherlapati R. (1997)
    2. A study of the combined effect of the CLDN5 locus and the genes for the phospholipid metabolism pathway in schizophrenia. (PubMed id 16181776)1, 4 Wei J. and Hemmings G.P. (2005)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (2004)
    5. 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)
    6. Analysis of a human gene homologous to rat ventral prostate.1 protein. (PubMed id 9441748)1, 3 Peacock R.E.... Inglehearn C.F. (1997)
    7. Claudin-5 levels are reduced in human end-stage cardiomyopathy. (PubMed id 18513742)1, 9 Mays T.A....Rafael-Fortney J.A. (2008)
    8. Limited contribution of claudin-5-dependent tight junction strands to endothelial barrier function. (PubMed id 16959372)1, 9 Fontijn R.D....Horrevoets A.J. (2006)
    9. Contribution of claudin-5 to barrier properties in tight junctions of epithelial cells. (PubMed id 16158492)1, 9 Amasheh S....Fromm M. (2005)
    10. Claudin-5 overexpression correlates with aggressive b ehavior in serous ovarian adenocarcinoma. (PubMed id 20044634)1, 9 Turunen M....Santala M. (2009)

    External Searches for CLDN5 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing CLDN5 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7122 HGNC: 2047 AceView: CLDN5 Ensembl:ENSG00000184113 euGenes: HUgn7122
    ECgene: CLDN5 Kegg: 7122 H-InvDB: CLDN5

    Other Databases showing CLDN5 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing CLDN5 gene

    (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 CLDN5 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for CLDN5 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for CLDN5 gene:
    Search GeneIP for patents involving CLDN5

    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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