CLDN16

Claudin-16 is a protein that in humans is encoded by the CLDN16 gene.[5][6] It belongs to the group of claudins.

CLDN16
Identifiers
AliasesCLDN16, HOMG3, PCLN1, claudin 16
External IDsOMIM: 603959 MGI: 2148742 HomoloGene: 4799 GeneCards: CLDN16
Gene location (Human)
Chr.Chromosome 3 (human)[1]
Band3q28Start190,322,541 bp[1]
End190,412,143 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

10686

114141

Ensembl

ENSG00000113946

ENSMUSG00000038148

UniProt

Q9Y5I7

Q925N4

RefSeq (mRNA)

NM_006580
NM_001378492
NM_001378493

NM_053241

RefSeq (protein)

NP_006571
NP_001365421
NP_001365422

NP_444471

Location (UCSC)Chr 3: 190.32 – 190.41 MbChr 16: 26.46 – 26.48 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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 composed 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 kidney failure.[6]

Model organisms

Model organisms have been used in the study of CLDN16 function. A conditional knockout mouse line, called Cldn16tm1a(KOMP)Wtsi[11][12] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.[13][14][15]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[9][16] Twenty five tests were carried out on homozygous mutant animals and one significant abnormality was observed: the mice displayed urolithiasis.[9]

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References
  1. GRCh38: Ensembl release 89: ENSG00000113946 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000038148 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Simon DB, Lu Y, Choate KA, Velazquez H, Al-Sabban E, Praga M, Casari G, Bettinelli A, Colussi G, Rodriguez-Soriano J, McCredie D, Milford D, Sanjad S, Lifton RP (Jul 1999). "Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption". Science. 285 (5424): 103–6. doi:10.1126/science.285.5424.103. PMID 10390358.
  6. "Entrez Gene: CLDN16 claudin 16".
  7. "Salmonella infection data for Cldn16". Wellcome Trust Sanger Institute.
  8. "Citrobacter infection data for Cldn16". Wellcome Trust Sanger Institute.
  9. Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x.
  10. Mouse Resources Portal, Wellcome Trust Sanger Institute.
  11. "International Knockout Mouse Consortium".
  12. "Mouse Genome Informatics".
  13. Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
  14. Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  15. Collins FS, Rossant J, Wurst W (2007). "A Mouse for All Reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
  16. van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biol. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.

Further reading
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