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Aliases for CLDN16 Gene

Aliases for CLDN16 Gene

  • Claudin 16 2 3
  • Paracellin-1 2 3 4
  • PCLN1 3 4 6
  • PCLN-1 3 4
  • HOMG3 3 6
  • Hypomagnesemia 3, With Hypercalciuria And Nephrocalcinosis 3
  • With Hypercalciuria And Nephrocalcinosis 2
  • Hypomagnesemia 3 2
  • Claudin-16 3

External Ids for CLDN16 Gene

Previous GeneCards Identifiers for CLDN16 Gene

  • GC03P187107
  • GC03P191367
  • GC03P191507
  • GC03P191426
  • GC03P191588
  • GC03P190040
  • GC03P187505

Summaries for CLDN16 Gene

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 hypomagnesemia 3, renal and hypomagnesemia primary. Among its related pathways are Integrin Pathway and Cell junction organization. GO annotations related to this gene include identical protein binding and magnesium ion transmembrane transporter activity.

UniProtKB/Swiss-Prot for CLDN16 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CLDN16 Gene

Genomics for CLDN16 Gene

Regulatory Elements for CLDN16 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CLDN16 Gene

Start:
190,322,541 bp from pter
End:
190,412,143 bp from pter
Size:
89,603 bases
Orientation:
Plus strand

Genomic View for CLDN16 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CLDN16 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CLDN16 Gene

Proteins for CLDN16 Gene

  • Protein details for CLDN16 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5I7-CLD16_HUMAN
    Recommended name:
    Claudin-16
    Protein Accession:
    Q9Y5I7
    Secondary Accessions:

    Protein attributes for CLDN16 Gene

    Size:
    305 amino acids
    Molecular mass:
    33836 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CLDN16 Gene

Proteomics data for CLDN16 Gene at MOPED

Post-translational modifications for CLDN16 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CLDN16 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for CLDN16 Gene

Domains for CLDN16 Gene

Gene Families for CLDN16 Gene

HGNC:

Protein Domains for CLDN16 Gene

Suggested Antigen Peptide Sequences for CLDN16 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y5I7

UniProtKB/Swiss-Prot:

CLD16_HUMAN :
  • Q9Y5I7
Family:
  • Belongs to the claudin family.
genes like me logo Genes that share domains with CLDN16: view

Function for CLDN16 Gene

Molecular function for CLDN16 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for CLDN16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
GO:0005515 protein binding IPI 22373575
GO:0015095 magnesium ion transmembrane transporter activity TAS 10390358
GO:0042802 identical protein binding ISS --
genes like me logo Genes that share ontologies with CLDN16: view
genes like me logo Genes that share phenotypes with CLDN16: view

Animal Models for CLDN16 Gene

MGI Knock Outs for CLDN16:

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CLDN16

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for CLDN16 Gene

Localization for CLDN16 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CLDN16 Gene

Cell junction, tight junction. Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CLDN16 Gene COMPARTMENTS Subcellular localization image for CLDN16 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for CLDN16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0005923 bicellular tight junction ISS --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CLDN16: view

Pathways for CLDN16 Gene

genes like me logo Genes that share pathways with CLDN16: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for CLDN16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006875 cellular metal ion homeostasis TAS 10390358
GO:0007588 excretion TAS 10390358
GO:0015693 magnesium ion transport TAS 10390358
GO:0016338 calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules ISS --
genes like me logo Genes that share ontologies with CLDN16: view

Compounds for CLDN16 Gene

(2) HMDB Compounds for CLDN16 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
Magnesium
  • Magnesium
7439-95-4

(3) Novoseek inferred chemical compound relationships for CLDN16 Gene

Compound -log(P) Hits PubMed IDs
magnesium 78.8 30
hydrochlorothiazide 55.1 4
calcium 48.3 19
genes like me logo Genes that share compounds with CLDN16: view

Transcripts for CLDN16 Gene

mRNA/cDNA for CLDN16 Gene

Unigene Clusters for CLDN16 Gene

Claudin 16:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CLDN16

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CLDN16 Gene

No ASD Table

Relevant External Links for CLDN16 Gene

GeneLoc Exon Structure for
CLDN16
ECgene alternative splicing isoforms for
CLDN16

Expression for CLDN16 Gene

mRNA expression in normal human tissues for CLDN16 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CLDN16 Gene

This gene is overexpressed in Kidney - Cortex (19.7).

SOURCE GeneReport for Unigene cluster for CLDN16 Gene Hs.251391

mRNA Expression by UniProt/SwissProt for CLDN16 Gene

Q9Y5I7-CLD16_HUMAN
Tissue specificity: Kidney-specific, including the thick ascending limb of Henle (TAL)
genes like me logo Genes that share expressions with CLDN16: view

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression and Expression partners for CLDN16 Gene

Orthologs for CLDN16 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CLDN16 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CLDN16 35
  • 88.71 (n)
  • 90.91 (a)
CLDN16 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CLDN16 35
  • 85.57 (n)
  • 84.59 (a)
CLDN16 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cldn16 35
  • 85.96 (n)
  • 92.34 (a)
Cldn16 16
Cldn16 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CLDN16 35
  • 99.34 (n)
  • 99.02 (a)
CLDN16 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cldn16 35
  • 85.53 (n)
  • 91.91 (a)
oppossum
(Monodelphis domestica)
Mammalia CLDN16 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CLDN16 36
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves CLDN16 35
  • 74.4 (n)
  • 77.64 (a)
CLDN16 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CLDN16 36
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cldn16 35
  • 71.23 (n)
  • 76.92 (a)
Species with no ortholog for CLDN16:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for CLDN16 Gene

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

Paralogs for CLDN16 Gene

No data available for Paralogs for CLDN16 Gene

Variants for CLDN16 Gene

Sequence variations from dbSNP and Humsavar for CLDN16 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs1425114 -- 190,386,917(+) GCCTT(C/T)TATAC upstream-variant-2KB
rs1425115 -- 190,387,066(+) TCCCT(C/T)CCAAT upstream-variant-2KB
rs1425116 -- 190,392,636(+) TACCC(A/C)AAAGA intron-variant
rs1425117 -- 190,393,013(+) AGGGA(A/G)ACAAT intron-variant
rs1491991 -- 190,388,764(-) ATGAT(A/G)TATGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CLDN16 Gene

Variant ID Type Subtype PubMed ID
nsv829820 CNV Gain 17160897
nsv516391 CNV Loss 19592680
dgv902e199 CNV Deletion 23128226
esv2726378 CNV Deletion 23290073
esv2000222 CNV Deletion 18987734
esv2726379 CNV Deletion 23290073
esv991712 CNV Deletion 20482838
esv2726380 CNV Deletion 23290073
esv2726381 CNV Deletion 23290073

Relevant External Links for CLDN16 Gene

HapMap Linkage Disequilibrium report
CLDN16
Human Gene Mutation Database (HGMD)
CLDN16

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CLDN16 Gene

Disorders for CLDN16 Gene

(1) OMIM Diseases for CLDN16 Gene (603959)

UniProtKB/Swiss-Prot

CLD16_HUMAN
  • 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. {ECO:0000269 PubMed:10390358, ECO:0000269 PubMed:10878661, ECO:0000269 PubMed:11518780}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for CLDN16 Gene

(11) Novoseek inferred disease relationships for CLDN16 Gene

Disease -log(P) Hits PubMed IDs
hypomagnesemia 95.2 27
nephrocalcinosis 94.9 21
hypercalciuria 93.8 26
magnesium wasting, renal 84.1 1
nephrolithiasis 70.2 2

Relevant External Links for CLDN16

Genetic Association Database (GAD)
CLDN16
Human Genome Epidemiology (HuGE) Navigator
CLDN16
genes like me logo Genes that share disorders with CLDN16: view

No data available for Genatlas for CLDN16 Gene

Publications for CLDN16 Gene

  1. Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption. (PMID: 10390358) Simon D.B. … Lifton R.P. (Science 1999) 2 3 4 23
  2. Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene. (PMID: 10878661) Weber S. … Konrad M. (Eur. J. Hum. Genet. 2000) 3 4 23
  3. Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis. (PMID: 11518780) Weber S. … Konrad M. (J. Am. Soc. Nephrol. 2001) 3 4 23
  4. A novel claudin 16 mutation associated with childhood hypercalciuria abolishes binding to ZO-1 and results in lysosomal mistargeting. (PMID: 14628289) MA1ller D. … Hunziker W. (Am. J. Hum. Genet. 2003) 3 23
  5. Disease-associated mutations affect intracellular traffic and paracellular Mg2+ transport function of Claudin-16. (PMID: 16528408) Kausalya P.J. … Hunziker W. (J. Clin. Invest. 2006) 3 23

Products for CLDN16 Gene

Sources for CLDN16 Gene

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