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

CLDN16 Gene

protein-coding   GIFtS: 62
GCID: GC03P190040

claudin 16
 Explore 18 diseases affiliated with
CLDN16 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for CLDN16    

Aliases
for CLDN16 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Claudin 161 2     Claudin-161
PCLN11 2 3 5     Hypomagnesemia 3, With Hypercalciuria And Nephrocalcinosis2
HOMG31 2 5     Paracellin-13
PCLN-12 3     Paracellin-13

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

Export aliases for CLDN16 gene to outside databases

Previous GC identifers: GC03P187107 GC03P191367 GC03P191507 GC03P191426 GC03P191588 GC03P187505


Summaries
for CLDN16 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 CLDN16:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_005612.16  
Regulatory elements:
   SABiosciences 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 plasmid: CLDN16 promoter sequence
   Search SABiosciences Chromatin IP Primers for CLDN16

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for CLDN16 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: CLD16_HUMAN, Q9Y5I7 (See protein sequence)
Recommended Name: Claudin-16  
Size: 305 amino acids; 33836 Da
Subcellular location: Cell junction, tight junction. Cell membrane; Multi-pass membrane protein

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9Y5I7

    • CLDN16 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_006571.1  
    ENSEMBL proteins: 
     ENSP00000264734   ENSP00000414136  
    Reactome Protein details: Q9Y5I7
    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: CLDN16
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    Novus Biologicals CLDN16 Proteins
    Novus Biologicals CLDN16 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for CLDN16

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

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


    CLDN16 for ontologies           About GeneDecksing



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    Uscn Antibodies for CLDN16
    ThermoFisher Antibody for CLDN16

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    Uscn ELISAs and CLIAs for CLDN16

    Protein Domains /
    Families
    for CLDN16 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CLDN16 for domains           About GeneDecksing

    4 InterPro domains/families:
     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 families:
    IPB003927 Claudin-16 signature
    IPB006187 Claudin family signature


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


    Function
    for CLDN16 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CLDN16
    8/12 QIAGEN miScript miRNA 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 plasmid: CLDN16 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CLDN16 (see all 7)
    OriGene shRNA RFP: CLDN16
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    Gene Editing
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    Clone
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    Cell Line
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    In Situ Assay
    Products:       
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    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:0015095magnesium ion transmembrane transporter activity TAS10390358
    GO:0042802identical protein binding ISS--


    CLDN16 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Cldn16tm1.1Dmu for CLDN16
         2 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Cldn16):
     homeostasis/metabolism  renal/urinary system 

    CLDN16 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for CLDN16 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 - 5/8 super-pathways (see all 8) 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
    3Sertoli-Sertoli Cell Junction Dynamics
    		Sertoli-Sertoli Cell Junction Dynamics1.00
    		Epithelial Tight Junctions0.36
    4Hepatitis C
    		Hepatitis C1.00
    5Leukocyte transendothelial migration
    		Leukocyte transendothelial migration1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for CLDN16
        Cell adhesion Tight junctions

    3 Downloadable PowerPoint Slides of QIAGEN 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

    4        Reactome Pathways for CLDN16
        Tight junction interactions
    Cell junction organization
    Cell-Cell communication
    Cell-cell junction organization


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


    CLDN16 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CLDN16

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

    5/26 Interacting proteins for CLDN16 (Q9Y5I72, 3 ENSP000002647344) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
    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 (GO ID links to tree view):    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--


    CLDN16 for ontologies           About GeneDecksing



    Drugs & Compounds
    for CLDN16 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

    CLDN16 for compounds           About GeneDecksing

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

    Browse Tocris compounds for CLDN16

    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 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)

    Search CenterWatch for drugs/clinical trials and news about CLDN16 / CLD16 

    Transcripts
    for CLDN16 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, 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 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


    miRNA
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    8/12 QIAGEN miScript miRNA 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 plasmid: CLDN16 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CLDN16 (see all 7)
    OriGene shRNA RFP: CLDN16
    OriGene siRNA: CLDN16
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CLDN16
    Clone
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    Additional cDNA 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 

    24/35 AceView cDNA sequences (see all 35):

    NM_006580 AI261706 AF152101 BC069662 AI687750 BC069777 BQ109395 BC069759 
    BC069682 AI024006 AI701605 AA777384 BX093126 BG546536 AI244195 BF034334 
    CB243840 CD622952 AI932700 CB241927 AI796184 CD622954 CD622944 CD622942 

    GeneLoc Exon Structure


    Expression
    for CLDN16 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

    CLDN16 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTGCCATCCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    CLDN16 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyLoop of HenleLoop of Henle CellsKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See CLDN16 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CLDN16

    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)

        SABiosciences Expression via Pathway-Focused 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
    for CLDN16 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 CLDN16 gene from 2/10 species (see all 10)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves CLDN161 claudin 16 74.4(n)
    77.64(a)    		   429147  XM_426702.1  XP_426702.1 
    lizard
    (Anolis carolinensis)    		 Reptilia CLDN166
    --
    		 --
    		 69(a)
    31(a)
    		 1 ↔ 1
    possible ortholog
    		 GL343386.1(397350-421716)
    AAWZ02036089(12403-16112)


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

    Paralogs
    for CLDN16 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CLDN16 gene
    CLDN112  

    CLDN16 for paralogs           About GeneDecksing



    Genomic Variants
    for CLDN16 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

    10/557 NCBI SNPs in CLDN16 are shown (see all 557)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 3 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1048937211,2
    		Cpathogenic195332099(+) GGCTCA/GGAATG 2 R G mis10--------
    rs1048937271,2
    		Cpathogenic195332116(+) ATTTGA/GTTGGT 2 D G mis10--------
    rs1048937261,2
    		Cpathogenic195332119(+) TAAATG/TTGGTT 2 C F mis10--------
    rs1048937231,2
    		Cpathogenic195332221(+) TTCAGA/GTACCC 2 D G mis10--------
    rs1048937251,2
    		Cpathogenic195335700(+) CCTGCC/TCCTTG 2 P L mis10--------
    rs1048937291,2
    		Cpathogenic195335747(+) GCGTTG/TATGAT 2 L F mis10--------
    rs1048937301,2
    		Cpathogenic195335748(+) AGCGTG/TGATGA 2 W L mis10--------
    rs802251661,2
    		C,F,--187503687(+) GGACTT/CTTCCT 1 -- us2k15Minor allele frequency- C:0.12NA CSA WA 244
    rs38341981,2
    		C,--187503741(-) TTTAC-/TCTGCT 1 -- us2k10--------
    rs780559041,2
    		C,--187504099(+) GGTAGT/CGCATA 1 -- us2k12Minor allele frequency- C:0.15NA 122

    HapMap Linkage Disequilibrium report for CLDN16 (190040330 - 190129932 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for CLDN16
         1 CNV: 51042
    Human Gene Mutation Database (HGMD): CLDN16

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    Disorders / Diseases
    for CLDN16 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
    CLDN16 for disorders           About GeneDecksing

    OMIM gene information: 603959   
    OMIM disorders: 248250  
    UniProtKB/Swiss-Prot: CLD16_HUMAN, Q9Y5I7
  • Defects in CLDN16 are the cause of hypomagnesemia type 3 (HOMG3) [MIM:248250]; also known as familial
    • hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC). HOMG3 is 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

    18 diseases for CLDN16:    About MalaCards
    hypomagnesemia    nephrocalcinosis    hypercalciuria    hypomagnesemia primary
    hypocalcemia    nephrolithiasis    dent disease    papillary thyroid carcinoma
    carcinoid tumors    rickets    thyroid carcinoma    hepatitis c
    thyroiditis    ovarian cancer    gastric cancer    breast cancer
    hepatitis    carcinoma

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

    10/11 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: CLDN16 (2 documents)

    Export disorders for CLDN16 gene to outside databases

    Publications
    for CLDN16 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 CLDN16 gene, integrated from 9 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. (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. (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. (2001)
    4. 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)
    5. Claudin-16 reduces the aggressive behavior of human breast cancer cells. (PubMed id 18442037)1, 9 Martin T.A....Jiang W.G. (2008)
    6. Disease-associated mutations affect intracellular traffic and paracellular Mg2+ transport function of Claudin-16. (PubMed id 16528408)1, 9 Kausalya P.J....Hunziker W. (2006)
    7. 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. (2008)
    8. Identification and subcellular localization of paracellin-1 (claudin-16) in human salivary glands. (PubMed id 17551748)1, 9 Kriegs J.O....Kinne R.K. (2007)
    9. Paracellin-1 and the modulation of ion selectivity of tight junctions. (PubMed id 16234325)1, 9 Hou J....Goodenough D.A. (2005)
    10. Familial hypomagnesemia with hypercalciuria and nephr ocalcinosis: unusual clinical associations and novel claudin16 mutation in an E gyptian family. (PubMed id 19165416)1, 9 Al-Haggar M....Abdel-Hady D. (2009)

    External Searches for CLDN16 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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    Genome Databases showing CLDN16 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10686 HGNC: 2037 AceView: CLDN16 Ensembl:ENSG00000113946 euGenes: HUgn10686
    ECgene: CLDN16 Kegg: 10686 H-InvDB: CLDN16

    Other Databases showing CLDN16 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing CLDN16 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 CLDN16 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CLDN16

    Intellectual Property
    for CLDN16 gene

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

    GeneCards and IP:
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