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CLDN16 Gene

protein-coding   GIFtS: 63
GCID: GC03P190040

Claudin 16

  See CLDN16-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)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Claudin 161 2     Hypomagnesemia 31
PCLN12 3 5     With Hypercalciuria And Nephrocalcinosis1
paracellin-11 2     claudin-162
PCLN-12 3     Hypomagnesemia 3, With Hypercalciuria And Nephrocalcinosis2
HOMG32 5     Paracellin-13

External Ids:    HGNC: 20371   Entrez Gene: 106862   Ensembl: ENSG000001139467   OMIM: 6039595   UniProtKB: Q9Y5I73   
ORGUL members:         

Export aliases for CLDN16 gene to outside databases

Previous GC identifers: GC03P187107 GC03P191367 GC03P191507 GC03P191426 GC03P191588 GC03P187505


(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 CLDN16 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. It is found primarily in the kidneys, specifically in the thick ascending limb of
Henle, where it acts as either an intercellular pore or ion concentration sensor to regulate the paracellular
resorption of magnesium ions. Defects in this gene are a cause of primary hypomagnesemia, which is characterized
by massive renal magnesium wasting with hypomagnesemia and hypercalciuria, resulting in nephrocalcinosis and
renal failure. This gene and the CLDN1 gene are clustered on chromosome 3q28. (provided by RefSeq, Jun 2010)

GeneCards Summary for CLDN16 Gene:
CLDN16 (claudin 16) is a protein-coding gene. Diseases associated with CLDN16 include intestinal botulism, and hypomagnesemia primary. GO annotations related to this gene include magnesium ion transmembrane transporter activity and identical protein binding.

UniProtKB/Swiss-Prot: CLD16_HUMAN, Q9Y5I7
Function: Plays a major role in tight junction-specific obliteration of the intercellular space, through
calcium-independent cell-adhesion activity. Involved in paracellular magnesium reabsorption. Required for a
selective paracellular conductance. May form, alone or in partnership with other constituents, an intercellular
pore permitting paracellular passage of magnesium and calcium ions down their electrochemical gradients.
Alternatively, it could be a sensor of magnesium concentration that could alter paracellular permeability
mediated by other factors

Gene Wiki entry for CLDN16 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)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NT_005612.17  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CLDN16 gene promoter:
         AML1a   GCNF   HSF1 (long)   Evi-1   E47   HFH-1   GCNF-1   HSF1short   c-Myb   GCNF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCLDN16 promoter sequence
   Search Chromatin IP Primers for CLDN16

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CLDN16


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

Entrez Gene cytogenetic band: 3q28   Ensembl cytogenetic band:  3q28   HGNC cytogenetic band: 3q28

CLDN16 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CLDN16 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P190040:  view genomic region     (about GC identifiers)

Start:
190,040,330 bp from pter      End:
190,129,932 bp from pter
Size:
89,603 bases      Orientation:
plus strand

(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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: CLD16_HUMAN, Q9Y5I7 (See protein sequence)
Recommended Name: Claudin-16  
Size: 305 amino acids; 33836 Da

Explore the universe of human proteins at neXtProt for CLDN16: NX_Q9Y5I7

Explore proteomics data for CLDN16 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CLDN16 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006571.1  
    ENSEMBL proteins: 
     ENSP00000264734   ENSP00000414136  
    Reactome Protein details: Q9Y5I7

    CLDN16 Human Recombinant Protein Products:

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    Search eBioscience for ELISAs for CLDN16 


    (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
     IPR003927 Claudin16
     IPR006187 Claudin
     IPR004031 PMP22/EMP/MP20/Claudin

    Graphical View of Domain Structure for InterPro Entry Q9Y5I7

    ProtoNet protein and cluster: Q9Y5I7

    2 Blocks protein domains:
    IPB003927 Claudin-16 signature
    IPB006187 Claudin family signature


    UniProtKB/Swiss-Prot: CLD16_HUMAN, Q9Y5I7
    Similarity: Belongs to the claudin family


    Find genes that share domains with CLDN16           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CLD16_HUMAN, Q9Y5I7
    Function: Plays a major role in tight junction-specific obliteration of the intercellular space, through
    calcium-independent cell-adhesion activity. Involved in paracellular magnesium reabsorption. Required for a
    selective paracellular conductance. May form, alone or in partnership with other constituents, an intercellular
    pore permitting paracellular passage of magnesium and calcium ions down their electrochemical gradients.
    Alternatively, it could be a sensor of magnesium concentration that could alter paracellular permeability
    mediated by other factors

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity IEA--
    GO:0005515protein binding IPI--
    GO:0015095magnesium ion transmembrane transporter activity TAS10390358
    GO:0042802identical protein binding ISS--
         
    Find genes that share ontologies with CLDN16           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for CLDN16:
     Cell division defect  Increased G2M DNA content  Increased gamma-H2AX phosphory 

         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Cldn16):
     homeostasis/metabolism  renal/urinary system 

    Find genes that share phenotypes with CLDN16           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Cldn16tm1.1Dmu for CLDN16

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CLDN16
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CLDN16

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CLDN16
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CLDN16

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate CLDN16 (see all 12):
    hsa-miR-98 hsa-let-7d hsa-let-7c hsa-let-7i hsa-let-7e hsa-let-7g hsa-let-7b hsa-let-7f
    SwitchGear 3'UTR luciferase reporter plasmidCLDN16 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CLDN16

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    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLDN16


    (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
    CLD16_HUMAN, Q9Y5I7: Cell junction, tight junction. Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--
    GO:0005923tight junction ISS--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with CLDN16           About GenesLikeMe


    (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 CLDN16 About   (see all 8)  
    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


    Find genes that share SuperPaths with CLDN16           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CLDN16
        Sertoli-Sertoli Cell Junction Dynamics
    Epithelial Tight Junctions
    Transendothelial Migration of Leukocytes

    1 GeneGo (Thomson Reuters) Pathway for CLDN16
        Cell adhesion Tight junctions

    1 Reactome Pathway for CLDN16
        Tight junction interactions


    4 Kegg Pathways  (Kegg details for CLDN16):
        Cell adhesion molecules (CAMs)
    Tight junction
    Leukocyte transendothelial migration
    Hepatitis C

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CLDN16: 
              Tight Junctions in human mouse rat
              Cell Junction PathwayFinder in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CLDN16

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

    Selected Interacting proteins for CLDN16 (Q9Y5I71, 2, 3 ENSP000002647344) via UniProtKB, MINT, STRING, and/or I2D (see all 27)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TJP1Q071573, ENSP000002815374I2D: score=1 STRING: ENSP00000281537
    CLDN19Q8N6F12, ENSP000002963874MINT-8387845 STRING: ENSP00000296387
    CLDN1ENSP000002955224STRING: ENSP00000295522
    CLDN10ENSP000002993394STRING: ENSP00000299339
    CLDN11ENSP000000647244STRING: ENSP00000064724
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006875cellular metal ion homeostasis TAS10390358
    GO:0007588excretion TAS10390358
    GO:0015693magnesium ion transport TAS10390358
    GO:0016338calcium-independent cell-cell adhesion ISS--

    Find genes that share ontologies with CLDN16           About GenesLikeMe



    (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 CLDN16 (CLD16)

    2 HMDB Compounds for CLDN16    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    MagnesiumMagnesium (see all 2)7439-95-4--

    3 Novoseek inferred chemical compound relationships for CLDN16 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    magnesium 78.8 43 16528408 (4), 17442678 (2), 17551748 (2), 15353399 (2) (see all 21)
    hydrochlorothiazide 55.1 8 16595585 (4)
    calcium 48.3 30 17551748 (2), 11729235 (2), 11380823 (2), 14730510 (1) (see all 16)



    Find genes that share compounds with CLDN16           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CLDN16 gene: 
    NM_006580.3  

    Unigene Cluster for CLDN16:

    Claudin 16
    Hs.251391  [show with all ESTs]
    Unigene Representative Sequence: NM_006580
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000468220 ENST00000264734(uc003fsi.3 uc010hze.3) ENST00000456423

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    Selected qRT-PCR Assays for microRNAs that regulate CLDN16 (see all 12):
    hsa-miR-98 hsa-let-7d hsa-let-7c hsa-let-7i hsa-let-7e hsa-let-7g hsa-let-7b hsa-let-7f
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      QuantiFast Probe-based Assays in human, mouse, rat CLDN16

    Additional mRNA sequence: 

    AF152101.1 AK314955.1 BC069662.1 BC069682.1 BC069759.1 BC069777.1 DQ305102.1 

    4 DOTS entries:

    DT.91827594  DT.95144006  DT.100643553  DT.100740123 

    Selected AceView cDNA sequences (see all 35):

    BC069777 BC069662 AF152101 AI261706 BQ109395 BC069682 AI687750 NM_006580 
    BC069759 AI796184 BX093126 AI024006 AI701605 BG546536 AI932700 AA777384 
    AI244195 CD622954 CD622952 CB241927 CB243840 BF034334 CD622950 CD622944 

    GeneLoc Exon Structure


    (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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    CLDN16 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGCCATCCT
    CLDN16 Expression
    About this image


    CLDN16 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Kidney (Urinary System)
             Loop of Henle Cells Loop of Henle
     
     Epithelial Cells
             Loop of Henle Cells Loop of Henle
    CLDN16 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CLDN16 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.251391

    UniProtKB/Swiss-Prot: CLD16_HUMAN, Q9Y5I7
    Tissue specificity: Kidney-specific, including the thick ascending limb of Henle (TAL)

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CLDN16: 
              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 CLDN16

    (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 CLDN16 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cldn161 , 5 claudin 161, 5 85.96(n)1
    92.34(a)1
      16 (18.10 cM)5
    1141411  NM_053241.51  NP_444471.11 
     264631355 
    chicken
    (Gallus gallus)
    Aves CLDN161 claudin 16 74.4(n)
    77.64(a)
      429147  XM_426702.2  XP_426702.1 
    lizard
    (Anolis carolinensis)
    Reptilia CLDN166
    claudin 16
    69(a)
    1 ↔ 1
    GL343386.1(397350-421716)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia cldn161 claudin 16 71.23(n)
    76.92(a)
      100496309  XM_002934041.2  XP_002934087.1 


    ENSEMBL Gene Tree for CLDN16 (if available)
    TreeFam Gene Tree for CLDN16 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (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 CLDN16 (see all 693)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0081774
    Hypomagnesemia 3 (HOMG3)4--see VAR_0081772 F C mis40--------
    VAR_0081794
    Hypomagnesemia 3 (HOMG3)4--see VAR_0081792 S F mis40--------
    VAR_0172374
    Hypomagnesemia 3 (HOMG3)4--see VAR_0172372 S P mis40--------
    VAR_0172344
    Hypomagnesemia 3 (HOMG3)4--see VAR_0172342 G A mis40--------
    VAR_0081754
    Hypomagnesemia 3 (HOMG3)4--see VAR_0081752 G R mis40--------
    VAR_0172364
    Hypomagnesemia 3 (HOMG3)4--see VAR_0172362 R T mis40--------
    VAR_0081784
    Hypomagnesemia 3 (HOMG3)4--see VAR_0081782 G D mis40--------
    VAR_0081724
    Hypomagnesemia 3 (HOMG3)4--see VAR_0081722 G R mis40--------
    VAR_0081734
    Hypomagnesemia 3 (HOMG3)4--see VAR_0081732 M R mis40--------
    VAR_0172314
    Hypomagnesemia 3 (HOMG3)4--see VAR_0172312 L F mis40--------

    HapMap Linkage Disequilibrium report for CLDN16 (190040330 - 190129932 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for CLDN16:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2000222CNV Deletion18987734
    dgv902e199CNV Deletion23128226
    esv2726380CNV Deletion23290073
    esv2726378CNV Deletion23290073
    esv991712CNV Deletion20482838
    esv2726379CNV Deletion23290073
    esv2726381CNV Deletion23290073
    nsv516391CNV Loss19592680
    nsv829820CNV Gain17160897

    Human Gene Mutation Database (HGMD): CLDN16
    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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603959   
    OMIM disorders: 248250  
    UniProtKB/Swiss-Prot: CLD16_HUMAN, Q9Y5I7
  • Hypomagnesemia 3 (HOMG3) [MIM:248250]: A progressive renal disease characterized by primary renal
    magnesium wasting with hypomagnesemia, hypercalciuria and nephrocalcinosis. Recurrent urinary tract infections
    and kidney stones are often observed. In spite of hypercalciuria, patients do not show hypocalcemia. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 5 diseases for CLDN16:    
    About MalaCards
    intestinal botulism    hypomagnesemia primary    hypomagnesemia 3, renal    nephrocalcinosis
    botulism

    2 diseases from the University of Copenhagen DISEASES database for CLDN16:
    Nephrocalcinosis     Nephrolithiasis

    Find genes that share disorders with CLDN16           About GenesLikeMe

    Selected Novoseek inferred disease relationships for CLDN16 gene (see all 11)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hypomagnesemia 95.2 37 16804318 (2), 12584272 (2), 15856319 (1), 14730510 (1) (see all 25)
    nephrocalcinosis 94.9 27 15856319 (1), 16234325 (1), 16804318 (1), 18562569 (1) (see all 21)
    hypercalciuria 93.8 37 16804318 (2), 16595585 (2), 15856319 (1), 18562569 (1) (see all 24)
    magnesium wasting, renal 84.1 1 17918133 (1)
    nephrolithiasis 70.2 2 16804318 (1), 18343451 (1)
    hypocalcemia 59.2 1 16705067 (1)
    renal failure 56.9 3 16501001 (1), 16924549 (1)
    renal failure chronic 44.1 1 19165416 (1)
    genetic disorder 27.1 3 16234325 (1), 17536484 (1)
    tumors 0 5 18442037 (4), 16676402 (1)

    Genetic Association Database (GAD): CLDN16
    Human Genome Epidemiology (HuGE) Navigator: CLDN16 (2 documents)

    Export disorders for CLDN16 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 CLDN16 gene, integrated from 10 sources (see all 79):
    (articles sorted by number of sources associating them with CLDN16)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption. (PubMed id 10390358)1, 2, 3, 9 Simon D.B.... Lifton R.P. (Science 1999)
    2. Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene. (PubMed id 10878661)1, 2, 9 Weber S....Konrad M. (Eur. J. Hum. Genet. 2000)
    3. Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis. (PubMed id 11518780)1, 2, 9 Weber S.... Konrad M. (J. Am. Soc. Nephrol. 2001)
    4. Genetic determinants of extracellular magnesium concentration: analysis of multiple candidate genes, and evidence for association with the estrogen receptor alpha (ESR1) locus. (PubMed id 19695239)1, 4 Shuen A.Y....Cole D.E. ( international journal of clinical chemistry 2009)
    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. (Genome Res. 2004)
    6. Claudin-16 reduces the aggressive behavior of human breast cancer cells. (PubMed id 18442037)1, 9 Martin T.A....Jiang W.G. (J. Cell. Biochem. 2008)
    7. Disease-associated mutations affect intracellular traffic and paracellular Mg2+ transport function of Claudin-16. (PubMed id 16528408)1, 9 Kausalya P.J....Hunziker W. (J. Clin. Invest. 2006)
    8. Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC): compound heterozygous mutation in the claudin 16 (CLDN16) gene. (PubMed id 18816383)1, 9 Hampson G....Scoble J. (BMC Nephrol 2008)
    9. Identification and subcellular localization of paracellin-1 (claudin-16) in human salivary glands. (PubMed id 17551748)1, 9 Kriegs J.O....Kinne R.K. (Histochem. Cell Biol. 2007)
    10. Paracellin-1 and the modulation of ion selectivity of tight junctions. (PubMed id 16234325)1, 9 Hou J....Goodenough D.A. (J. Cell. Sci. 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
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      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)
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    Entrez Gene: 10686 HGNC: 2037 AceView: CLDN16 Ensembl:ENSG00000113946 euGenes: HUgn10686
    ECgene: CLDN16 Kegg: 10686 H-InvDB: CLDN16

    (According to HUGE)
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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 CLDN16 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CLDN16[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CLDN16 gene:
    Search GeneIP for patents involving CLDN16

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



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