Cldn16 claudin 16 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cldn16provided by MGI
Official Full Name: claudin 16provided by MGI
Primary source: MGI:MGI:2148742
See related: Ensembl:ENSMUSG00000038148 AllianceGenome:MGI:2148742
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: PCLN1; claudin-16
Summary: 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, and also play critical roles in maintaining cell polarity and signal transductions. The protein encoded by this gene is critical for renal paracellular epithelial transport of Ca(2+) and Mg(2+) in the thick ascending loop of Henle. The gene deficiency leads to specific alterations in renal Ca(2+) and Mg(2+) balance and also to disturbances in Na(+) handling. The interaction of this gene and the Cldn 19 gene is required for their assembly into tight junctions and for renal Mg(2+) reabsorption. This gene and the Cldn1 gene are clustered on chromosome 16. [provided by RefSeq, Aug 2010]
Expression: Restricted expression toward kidney adult (RPKM 5.3) See more
Orthologs: human all
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Genomic context

Location:: 16 18.1 cM; 16 B2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	16	NC_000082.7 (26281885..26301515)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	16	NC_000082.6 (26463135..26482765)

Chromosome 16 - NC_000082.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Overexpression of CLDN16 in ovarian cancer is modulated by PI3K and PKC pathways.
Title: Overexpression of CLDN16 in ovarian cancer is modulated by PI3K and PKC pathways.
Severe individual renal phenotypes in claudin-10 and claudin-16 knockout mice are corrected by the additional deletion of the other claudin.
Title: Deletion of claudin-10 rescues claudin-16-deficient mice from hypomagnesemia and hypercalciuria.
claudin-16 gene (CLDN16) mutations result in amelogenesis imperfect.
Title: Claudin-16 Deficiency Impairs Tight Junction Function in Ameloblasts, Leading to Abnormal Enamel Formation.
1,25(OH)2 VitD transcriptionally inhibits renal claudin-16 expression by a mechanism sensitive to CaSR and Mg(2+).
Title: The claudin-16 channel gene is transcriptionally inhibited by 1,25-dihydroxyvitamin D.
Mg(2+)-loaded animals displayed hypermagnesemia with increasing urine Mg(2+)/Ca(2+) levels paralleled by a decrease in claudin-16 protein and mRNA in the kidney.
Title: Transcriptional regulation of the claudin-16 gene by Mg2+ availability.
Claudin-16 and claudin-19 interaction is required for their assembly into tight junctions and for renal reabsorption of magnesium.
Title: Claudin-16 and claudin-19 interaction is required for their assembly into tight junctions and for renal reabsorption of magnesium.
Insights into driving forces and paracellular permeability from claudin-16 knockdown mouse
Title: Insights into driving forces and paracellular permeability from claudin-16 knockdown mouse.
Perturbation in salt and acid-base metabolism in CLDN16 knockout mice has its origin in the defective cation permeability selectivity of the thick ascending limb of the nephron.
Title: Salt and acid-base metabolism in claudin-16 knockdown mice: impact for the pathophysiology of FHHNC patients.
data suggest that claudin-16 forms a non-selective paracellular cation channel, rather than a selective Mg(2+)/Ca(2+) channel as previously proposed
Title: Transgenic RNAi depletion of claudin-16 and the renal handling of magnesium.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (2) 1 citation

General gene information

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Markers

NoName (e-PCR)
- UniSTS:493209

Cldn16 (e-PCR), detects polymorphism
- UniSTS:495870

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables PDZ domain binding	ISS Inferred from Sequence or Structural Similarity more info
enables identical protein binding	ISS Inferred from Sequence or Structural Similarity more info
enables paracellular tight junction channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables structural molecule activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in bicellular tight junction assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in paracellular transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in paracellular transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of calcium ion transport	ISO Inferred from Sequence Orthology more info
involved_in renal absorption	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transepithelial transport	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in bicellular tight junction	IBA Inferred from Biological aspect of Ancestor more info
located_in bicellular tight junction	IDA Inferred from Direct Assay more info	PubMed
located_in bicellular tight junction	ISO Inferred from Sequence Orthology more info
located_in bicellular tight junction	ISS Inferred from Sequence or Structural Similarity more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in tight junction	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: claudin-16

Names: H59D2a protein; paracellin-1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_053241.5 → NP_444471.1 claudin-16

Status: REVIEWED

Source sequence(s)

AK085268, AK085333

Consensus CDS

CCDS28088.1

UniProtKB/Swiss-Prot

Q542L7, Q925N4

UniProtKB/TrEMBL

Q14BW2

Related

ENSMUSP00000124528.2, ENSMUST00000161053.8

Conserved Domains (1) summary

cl21598
Location:11 → 183

PMP22_Claudin; PMP-22/EMP/MP20/Claudin family