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{{Infobox_gene}}
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'''Claudin-16''' is a [[protein]] that in humans is encoded by the ''CLDN16'' [[gene]].<ref name="pmid10390358">{{cite journal | vauthors = 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 | title = Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption | journal = Science | volume = 285 | issue = 5424 | pages = 103–6 |date=Jul 1999 | pmid = 10390358 | pmc =  | doi =10.1126/science.285.5424.103 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: CLDN16 claudin 16| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10686| accessdate = }}</ref> It belongs to the group of [[claudin]]s.
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = Claudin 16
| HGNCid = 2037
| Symbol = CLDN16
| AltSymbols =; PCLN1
| OMIM = 603959
| ECnumber = 
| Homologene = 4799
| MGIid = 2148742
| GeneAtlas_image1 = PBB_GE_CLDN16_220332_at_tn.png
| Function = {{GNF_GO|id=GO:0000287 |text = magnesium ion binding}} {{GNF_GO|id=GO:0005198 |text = structural molecule activity}} {{GNF_GO|id=GO:0015095 |text = magnesium ion transmembrane transporter activity}} {{GNF_GO|id=GO:0042802 |text = identical protein binding}}
| Component = {{GNF_GO|id=GO:0005923 |text = tight junction}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process = {{GNF_GO|id=GO:0006811 |text = ion transport}} {{GNF_GO|id=GO:0006875 |text = cellular metal ion homeostasis}} {{GNF_GO|id=GO:0007588 |text = excretion}} {{GNF_GO|id=GO:0007605 |text = sensory perception of sound}} {{GNF_GO|id=GO:0016338 |text = calcium-independent cell-cell adhesion}}
  | Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 10686
    | Hs_Ensembl = ENSG00000113946
    | Hs_RefseqProtein = NP_006571
    | Hs_RefseqmRNA = NM_006580
    | Hs_GenLoc_db =   
    | Hs_GenLoc_chr = 3
    | Hs_GenLoc_start = 191588535
    | Hs_GenLoc_end = 191611027
    | Hs_Uniprot = Q9Y5I7
    | Mm_EntrezGene = 114141
    | Mm_Ensembl = ENSMUSG00000038148
    | Mm_RefseqmRNA = NM_053241
    | Mm_RefseqProtein = NP_444471
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 16
    | Mm_GenLoc_start = 26378509
    | Mm_GenLoc_end = 26398125
    | Mm_Uniprot = Q14BW2
  }}
}}
'''Claudin 16''', also known as '''CLDN16''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: CLDN16 claudin 16| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10686| accessdate = }}</ref>


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{{PBB_Summary
{{PBB_Summary
| section_title =  
| section_title =  
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: CLDN16 claudin 16| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10686| accessdate = }}</ref>
| summary_text = 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 renal failure.<ref name="entrez" />
}}
}}
==Model organisms==
{| class="wikitable sortable collapsible collapsed" border="1" cellpadding="2" style="float: right;" |
|+ ''Cldn16'' knockout mouse phenotype
|-
! Characteristic!! Phenotype
|-
| [[Homozygote]] viability || bgcolor="#488ED3"|Normal
|-
| Fertility || bgcolor="#488ED3"|Normal
|-
| General Observations || bgcolor="#C40000"|Abnormal
|-
| Body weight || bgcolor="#488ED3"|Normal
|-
| [[Open Field (animal test)|Anxiety]] || bgcolor="#488ED3"|Normal
|-
| Neurological assessment || bgcolor="#488ED3"|Normal
|-
| Grip strength || bgcolor="#488ED3"|Normal
|-
| [[Hot plate test|Hot plate]] || bgcolor="#488ED3"|Normal
|-
| [[Dysmorphology]] || bgcolor="#488ED3"|Normal
|-
| [[Indirect calorimetry]] || bgcolor="#488ED3"|Normal
|-
| [[Glucose tolerance test]] || bgcolor="#488ED3"|Normal
|-
| [[Auditory brainstem response]] || bgcolor="#488ED3"|Normal
|-
| [[Dual-energy X-ray absorptiometry|DEXA]] || bgcolor="#488ED3"|Normal
|-
| [[Radiography]] || bgcolor="#488ED3"|Normal
|-
| Body temperature || bgcolor="#488ED3"|Normal
|-
| Eye morphology || bgcolor="#488ED3"|Normal
|-
| [[Clinical chemistry]] || bgcolor="#488ED3"|Normal
|-
| [[Haematology]] || bgcolor="#488ED3"|Normal
|-
| [[Peripheral blood lymphocyte]]s || bgcolor="#488ED3"|Normal
|-
| [[Micronucleus test]] || bgcolor="#488ED3"|Normal
|-
| Heart weight || bgcolor="#488ED3"|Normal
|-
| Brain histopathology || bgcolor="#488ED3"|Normal
|-
| Eye Histopathology || bgcolor="#488ED3"|Normal
|-
| ''[[Salmonella]]'' infection || bgcolor="#488ED3"|Normal<ref name="''Salmonella'' infection">{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MAPG/salmonella-challenge/ |title=''Salmonella'' infection data for Cldn16 |publisher=Wellcome Trust Sanger Institute}}</ref>
|-
| ''[[Citrobacter]]'' infection || bgcolor="#488ED3"|Normal<ref name="''Citrobacter'' infection">{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MAPG/citrobacter-challenge/ |title=''Citrobacter'' infection data for Cldn16 |publisher=Wellcome Trust Sanger Institute}}</ref>
|-
| colspan=2; style="text-align: center;" | All tests and analysis from<ref name="mgp_reference">{{cite journal | doi = 10.1111/j.1755-3768.2010.4142.x | title = The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice | year = 2010 | author = Gerdin AK | journal = Acta Ophthalmologica | volume = 88 | pages =  925–7 }}</ref><ref>[http://www.sanger.ac.uk/mouseportal/ Mouse Resources Portal], Wellcome Trust Sanger Institute.</ref>
|}
[[Model organism]]s have been used in the study of CLDN16 function. A conditional [[knockout mouse]] line, called ''Cldn16<sup>tm1a(KOMP)Wtsi</sup>''<ref name="allele_ref">{{cite web |url=http://www.knockoutmouse.org/martsearch/search?query=Cldn16 |title=International Knockout Mouse Consortium}}</ref><ref name="mgi_allele_ref">{{cite web |url=http://www.informatics.jax.org/searchtool/Search.do?query=MGI:4364889 |title=Mouse Genome Informatics}}</ref> 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.<ref name="pmid21677750">{{Cite journal
| last1 = Skarnes |first1 =W. C.
| doi = 10.1038/nature10163
| last2 = Rosen | first2 = B.
| last3 = West | first3 = A. P.
| last4 = Koutsourakis | first4 = M.
| last5 = Bushell | first5 = W.
| last6 = Iyer | first6 = V.
| last7 = Mujica | first7 = A. O.
| last8 = Thomas | first8 = M.
| last9 = Harrow | first9 = J.
| last10 = Cox | first10 = T.
| last11 = Jackson | first11 = D.
| last12 = Severin | first12 = J.
| last13 = Biggs | first13 = P.
| last14 = Fu | first14 = J.
| last15 = Nefedov | first15 = M.
| last16 = De Jong | first16 = P. J.
| last17 = Stewart | first17 = A. F.
| last18 = Bradley | first18 = A.
| title = A conditional knockout resource for the genome-wide study of mouse gene function
| journal = Nature
| volume = 474
| issue = 7351
| pages = 337–342
| year = 2011
| pmid = 21677750
| pmc =3572410
}}</ref><ref name="mouse_library">{{cite journal | doi = 10.1038/474262a | title = Mouse library set to be knockout | year = 2011 | author = Dolgin E | journal = Nature | volume = 474 | issue = 7351 | pages = 262–3 | pmid = 21677718 }}</ref><ref name="mouse_for_all_reasons">{{cite journal | doi = 10.1016/j.cell.2006.12.018 | title = A Mouse for All Reasons | year = 2007 | journal = Cell | volume = 128 | pages = 9–13 | pmid = 17218247 |vauthors=Collins FS, Rossant J, Wurst W| issue = 1 }}</ref>
Male and female animals underwent a standardized [[phenotypic screen]] to determine the effects of deletion.<ref name="mgp_reference" /><ref name="pmid21722353">{{cite journal| vauthors=van der Weyden L, White JK, Adams DJ, Logan DW| title=The mouse genetics toolkit: revealing function and mechanism. | journal=Genome Biol | year= 2011 | volume= 12 | issue= 6 | pages= 224 | pmid=21722353 | doi=10.1186/gb-2011-12-6-224  | pmc=3218837}}</ref> Twenty five tests were carried out on homozygous [[mutant]] animals and one significant abnormality was observed: the mice displayed [[urolithiasis]].<ref name="mgp_reference" />


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==External links==
* {{UCSC gene info|CLDN16}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Kniesel U, Wolburg H |title=Tight junctions of the blood-brain barrier. |journal=Cell. Mol. Neurobiol. |volume=20 |issue= 1 |pages= 57-76 |year= 2000 |pmid= 10690502 |doi=  }}
*{{cite journal  | vauthors=Kniesel U, Wolburg H |title=Tight junctions of the blood–brain barrier |journal=Cell. Mol. Neurobiol. |volume=20 |issue= 1 |pages= 57–76 |year= 2000 |pmid= 10690502 |doi=10.1023/A:1006995910836 }}
*{{cite journal  | author=Heiskala M, Peterson PA, Yang Y |title=The roles of claudin superfamily proteins in paracellular transport. |journal=Traffic |volume=2 |issue= 2 |pages= 93-8 |year= 2001 |pmid= 11247307 |doi=  }}
*{{cite journal  | vauthors=Heiskala M, Peterson PA, Yang Y |title=The roles of claudin superfamily proteins in paracellular transport |journal=Traffic |volume=2 |issue= 2 |pages= 93–8 |year= 2001 |pmid= 11247307 |doi=10.1034/j.1600-0854.2001.020203.x }}
*{{cite journal  | author=Tsukita S, Furuse M, Itoh M |title=Multifunctional strands in tight junctions. |journal=Nat. Rev. Mol. Cell Biol. |volume=2 |issue= 4 |pages= 285-93 |year= 2001 |pmid= 11283726 |doi= 10.1038/35067088 }}
*{{cite journal  | vauthors=Tsukita S, Furuse M, Itoh M |title=Multifunctional strands in tight junctions |journal=Nat. Rev. Mol. Cell Biol. |volume=2 |issue= 4 |pages= 285–93 |year= 2001 |pmid= 11283726 |doi= 10.1038/35067088 }}
*{{cite journal  | author=Tsukita S, Furuse M |title=Claudin-based barrier in simple and stratified cellular sheets. |journal=Curr. Opin. Cell Biol. |volume=14 |issue= 5 |pages= 531-6 |year= 2003 |pmid= 12231346 |doi=  }}
*{{cite journal  | vauthors=Tsukita S, Furuse M |title=Claudin-based barrier in simple and stratified cellular sheets |journal=Curr. Opin. Cell Biol. |volume=14 |issue= 5 |pages= 531–6 |year= 2003 |pmid= 12231346 |doi=10.1016/S0955-0674(02)00362-9 }}
*{{cite journal  | author=González-Mariscal L, Betanzos A, Nava P, Jaramillo BE |title=Tight junction proteins. |journal=Prog. Biophys. Mol. Biol. |volume=81 |issue= 1 |pages= 1-44 |year= 2003 |pmid= 12475568 |doi=  }}
*{{cite journal  | vauthors=González-Mariscal L, Betanzos A, Nava P, Jaramillo BE |title=Tight junction proteins |journal=Prog. Biophys. Mol. Biol. |volume=81 |issue= 1 |pages= 1–44 |year= 2003 |pmid= 12475568 |doi=10.1016/S0079-6107(02)00037-8 }}
*{{cite journal  | author=Manz F, Schärer K, Janka P, Lombeck J |title=Renal magnesium wasting, incomplete tubular acidosis, hypercalciuria and nephrocalcinosis in siblings. |journal=Eur. J. Pediatr. |volume=128 |issue= 2 |pages= 67-79 |year= 1978 |pmid= 668721 |doi= }}
*{{cite journal  | vauthors=Manz F, Schärer K, Janka P, Lombeck J |title=Renal magnesium wasting, incomplete tubular acidosis, hypercalciuria and nephrocalcinosis in siblings |journal=Eur. J. Pediatr. |volume=128 |issue= 2 |pages= 67–79 |year= 1978 |pmid= 668721 |doi=10.1007/BF00496992 }}
*{{cite journal  | author=Simon DB, Lu Y, Choate KA, ''et al.'' |title=Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption. |journal=Science |volume=285 |issue= 5424 |pages= 103-6 |year= 1999 |pmid= 10390358 |doi= }}
*{{cite journal  | author=Weber S |title=Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene |journal=Eur. J. Hum. Genet. |volume=8 |issue= 6 |pages= 414–22 |year= 2000 |pmid= 10878661 |doi= 10.1038/sj.ejhg.5200475 |name-list-format=vanc| author2=Hoffmann K  | author3=Jeck N  | display-authors=3  | last4=Saar  | first4=Kathrin  | last5=Boeswald  | first5=Martin  | last6=Kuwertz-Broeking  | first6=Eberhard  | last7=Meij  | first7=Ivan IC  | last8=Knoers  | first8=Nine VAM  | last9=Cochat  | first9=Pierre }}
*{{cite journal  | author=Weber S, Hoffmann K, Jeck N, ''et al.'' |title=Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene. |journal=Eur. J. Hum. Genet. |volume=8 |issue= 6 |pages= 414-22 |year= 2000 |pmid= 10878661 |doi= 10.1038/sj.ejhg.5200475 }}
*{{cite journal  | author=Weber S |title=Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis |journal=J. Am. Soc. Nephrol. |volume=12 |issue= 9 |pages= 1872–81 |year= 2001 |pmid= 11518780 |doi= |name-list-format=vanc| author2=Schneider L  | author3=Peters M  | display-authors=3  | last4=Misselwitz  | first4=J  | last5=Rönnefarth  | first5=G  | last6=Böswald  | first6=M  | last7=Bonzel  | first7=KE  | last8=Seeman  | first8=T  | last9=Suláková  | first9=T }}
*{{cite journal  | author=Weber S, Schneider L, Peters M, ''et al.'' |title=Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis. |journal=J. Am. Soc. Nephrol. |volume=12 |issue= 9 |pages= 1872-81 |year= 2001 |pmid= 11518780 |doi=  }}
*{{cite journal  | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241  |name-list-format=vanc| author2=Feingold EA  | author3=Grouse LH  | display-authors=3  | last4=Derge  | first4=JG  | last5=Klausner  | first5=RD  | last6=Collins  | first6=FS  | last7=Wagner  | first7=L  | last8=Shenmen  | first8=CM  | last9=Schuler  | first9=GD }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | author=Müller D |title=A Novel Claudin 16 Mutation Associated with Childhood Hypercalciuria Abolishes Binding to ZO-1 and Results in Lysosomal Mistargeting |journal=Am. J. Hum. Genet. |volume=73 |issue= 6 |pages= 1293–301 |year= 2004 |pmid= 14628289 |doi=10.1086/380418  | pmc=1180395  |name-list-format=vanc| author2=Kausalya PJ  | author3=Claverie-Martin F  | display-authors=3  | last4=Meij  | first4=Iwan C.  | last5=Eggert  | first5=Paul  | last6=Garcia-Nieto  | first6=Victor  | last7=Hunziker  | first7=Walter }}
*{{cite journal  | author=Müller D, Kausalya PJ, Claverie-Martin F, ''et al.'' |title=A novel claudin 16 mutation associated with childhood hypercalciuria abolishes binding to ZO-1 and results in lysosomal mistargeting. |journal=Am. J. Hum. Genet. |volume=73 |issue= 6 |pages= 1293-301 |year= 2004 |pmid= 14628289 |doi=  }}
*{{cite journal  | author=Gerhard DS |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928  |name-list-format=vanc| author2=Wagner L  | author3=Feingold EA  | display-authors=3  | last4=Shenmen  | first4=CM  | last5=Grouse  | first5=LH  | last6=Schuler  | first6=G  | last7=Klein  | first7=SL  | last8=Old  | first8=S  | last9=Rasooly  | first9=R }}
*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  | vauthors=Hou J, Paul DL, Goodenough DA |title=Paracellin-1 and the modulation of ion selectivity of tight junctions |journal=J. Cell Sci. |volume=118 |issue= Pt 21 |pages= 5109–18 |year= 2005 |pmid= 16234325 |doi= 10.1242/jcs.02631 }}
*{{cite journal  | author=Hou J, Paul DL, Goodenough DA |title=Paracellin-1 and the modulation of ion selectivity of tight junctions. |journal=J. Cell. Sci. |volume=118 |issue= Pt 21 |pages= 5109-18 |year= 2005 |pmid= 16234325 |doi= 10.1242/jcs.02631 }}
*{{cite journal  | author=Kausalya PJ |title=Disease-associated mutations affect intracellular traffic and paracellular Mg2+ transport function of Claudin-16 |journal=J. Clin. Invest. |volume=116 |issue= 4 |pages= 878–91 |year= 2006 |pmid= 16528408 |doi= 10.1172/JCI26323 | pmc=1395478  |name-list-format=vanc| author2=Amasheh S  | author3=Günzel D  | display-authors=3  | last4=Wurps  | first4=H  | last5=Müller  | first5=D  | last6=Fromm  | first6=M  | last7=Hunziker  | first7=W }}
*{{cite journal  | author=Kausalya PJ, Amasheh S, Günzel D, ''et al.'' |title=Disease-associated mutations affect intracellular traffic and paracellular Mg2+ transport function of Claudin-16. |journal=J. Clin. Invest. |volume=116 |issue= 4 |pages= 878-91 |year= 2006 |pmid= 16528408 |doi= 10.1172/JCI26323 }}
*{{cite journal  | author=Türkmen M |title=Paracellin-1 gene mutation with multiple congenital abnormalities |journal=Pediatr. Nephrol. |volume=21 |issue= 11 |pages= 1776–8 |year= 2007 |pmid= 16924549 |doi= 10.1007/s00467-006-0247-7 |name-list-format=vanc| author2=Kasap B  | author3=Soylu A  | display-authors=3  | last4=Böber  | first4=Ece  | last5=Konrad  | first5=Martin  | last6=Kavukçu  | first6=Salih }}
*{{cite journal  | author=Türkmen M, Kasap B, Soylu A, ''et al.'' |title=Paracellin-1 gene mutation with multiple congenital abnormalities. |journal=Pediatr. Nephrol. |volume=21 |issue= 11 |pages= 1776-8 |year= 2007 |pmid= 16924549 |doi= 10.1007/s00467-006-0247-7 }}
}}
}}
* {{cite journal | vauthors = Liu F, Koval M, Ranganathan S, Fanayan S, Hancock WS, Lundberg EK, Beavis RC, Lane L, Duek P, McQuade L, Kelleher NL, Baker MS | title = A systems proteomics view of the endogenous human claudin protein family | journal = J Proteome Res | date= 2015 | pmid = 26680015 | doi = 10.1021/acs.jproteome.5b00769 | url = https://archive-ouverte.unige.ch/unige:79118/ATTACHMENT01 }}
{{refend}}
{{refend}}


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[[Category:Genes mutated in mice]]

Latest revision as of 12:28, 4 November 2018

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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n/a

Ensembl

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n/a

UniProt

n/a

n/a

RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Claudin-16 is a protein that in humans is encoded by the CLDN16 gene.[1][2] It belongs to the group of claudins.

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 renal failure.[2]

Model organisms

Model organisms have been used in the study of CLDN16 function. A conditional knockout mouse line, called Cldn16tm1a(KOMP)Wtsi[7][8] 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.[9][10][11]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[5][12] Twenty five tests were carried out on homozygous mutant animals and one significant abnormality was observed: the mice displayed urolithiasis.[5]

References

  1. ↑ 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.
  2. ↑ 2.0 2.1 "Entrez Gene: CLDN16 claudin 16".
  3. ↑ "Salmonella infection data for Cldn16". Wellcome Trust Sanger Institute.
  4. ↑ "Citrobacter infection data for Cldn16". Wellcome Trust Sanger Institute.
  5. ↑ 5.0 5.1 5.2 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.
  6. ↑ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  7. ↑ "International Knockout Mouse Consortium".
  8. ↑ "Mouse Genome Informatics".
  9. ↑ 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.
  10. ↑ Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  11. ↑ 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.
  12. ↑ 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.

External links

Further reading

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