CLDN19

CLDN19
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3X29
Identifiers
Aliases	CLDN19, HOMG5, claudin 19
External IDs	OMIM: 610036 MGI: 3033992 HomoloGene: 17528 GeneCards: CLDN19
Gene location (Human)
Chr.	Chromosome 1 (human)[1]
End	42,740,254 bp[1]
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)[2]
End	119,262,438 bp[2]
Gene ontology
Molecular function	• structural molecule activity; • identical protein binding; • GO:0001948 protein binding;
Cellular component	• cytoplasm; • integral component of membrane; • cell junction; • cell membrane; • basolateral plasma membrane; • apical junction complex; • cell nucleus; • bicellular tight junction; • membrane;
Biological process	• calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules; • apical junction assembly; • neuronal action potential propagation; • response to stimulus; • visual perception; • tight junction organization;
	Sources:Amigo / QuickGO
Orthologs
	149461
	242653
	ENSG00000164007
	ENSMUSG00000066058
	Q8N6F1
	Q9ET38
	NM_148960; NM_001123395; NM_001185117
	NM_001038590; NM_153105
	NP_001116867; NP_001172046; NP_683763
	NP_001033679; NP_694745
	Wikidata
View/Edit Human	View/Edit Mouse

Claudin-19 is a protein that in humans is encoded by the CLDN19 gene.[5] It belongs to the group of claudins. Claudin-19 has been implicated in magnesium transport.[6][7]

Claudins, such as CLDN19, are transmembrane proteins found at tight junctions. Tight junctions form barriers that control the passage of ions and molecules across an epithelial sheet and the movement of proteins and lipids between apical and basolateral domains of epithelial cells (Lee et al., 2006).[supplied by OMIM][5]

References

GRCh38: Ensembl release 89: ENSG00000164007 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000066058 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Entrez Gene: CLDN19 claudin 19".
Naeem, M.; Hussain, S.; Akhtar, N. (2011). "Mutation in the Tight-Junction Gene Claudin 19 (CLDN19) and Familial Hypomagnesemia, Hypercalciuria, Nephrocalcinosis (FHHNC) and Severe Ocular Disease". American Journal of Nephrology. 34 (3): 241–248. doi:10.1159/000330854. PMID 21791920.
Konrad, M.; Schaller, A.; Seelow, D.; Pandey, A. V.; Waldegger, S.; Lesslauer, A.; Vitzthum, H.; Suzuki, Y.; Luk, J. M.; Becker, C.; Schlingmann, K. P.; Schmid, M.; Rodriguez-Soriano, J.; Ariceta, G.; Cano, F.; Enriquez, R.; Jüppner, H.; Bakkaloglu, S. A.; Hediger, M. A.; Gallati, S.; Neuhauss, S. C. F.; Nürnberg, P.; Weber, S. (2006). "Mutations in the Tight-Junction Gene Claudin 19 (CLDN19) Are Associated with Renal Magnesium Wasting, Renal Failure, and Severe Ocular Involvement". The American Journal of Human Genetics. 79 (5): 949–957. doi:10.1086/508617. PMC 1698561. PMID 17033971.

External links

Human CLDN19 genome location and CLDN19 gene details page in the UCSC Genome Browser.

Kniesel U, Wolburg H (2000). "Tight junctions of the blood–brain barrier". Cell. Mol. Neurobiol. 20 (1): 57–76. doi:10.1023/A:1006995910836. PMID 10690502.
Heiskala M, Peterson PA, Yang Y (2001). "The roles of claudin superfamily proteins in paracellular transport". Traffic. 2 (2): 93–8. doi:10.1034/j.1600-0854.2001.020203.x. PMID 11247307.
Tsukita S, Furuse M, Itoh M (2001). "Multifunctional strands in tight junctions". Nat. Rev. Mol. Cell Biol. 2 (4): 285–93. doi:10.1038/35067088. PMID 11283726.
Tsukita S, Furuse M (2003). "Claudin-based barrier in simple and stratified cellular sheets". Curr. Opin. Cell Biol. 14 (5): 531–6. doi:10.1016/S0955-0674(02)00362-9. PMID 12231346.
González-Mariscal L, Betanzos A, Nava P, Jaramillo BE (2003). "Tight junction proteins". Prog. Biophys. Mol. Biol. 81 (1): 1–44. doi:10.1016/S0079-6107(02)00037-8. PMID 12475568.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Lee NP, Tong MK, Leung PP, et al. (2006). "Kidney claudin-19: localization in distal tubules and collecting ducts and dysregulation in polycystic renal disease". FEBS Lett. 580 (3): 923–31. doi:10.1016/j.febslet.2006.01.019. PMID 16427635.
Konrad M, Schaller A, Seelow D, et al. (2006). "Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement". Am. J. Hum. Genet. 79 (5): 949–57. doi:10.1086/508617. PMC 1698561. PMID 17033971.
Liu F, Koval M, Ranganathan S, Fanayan S, Hancock WS, Lundberg EK, Beavis RC, Lane L, Duek P, McQuade L, Kelleher NL, Baker MS (2015). "A systems proteomics view of the endogenous human claudin protein family". J Proteome Res. 15 (2): 339–359. doi:10.1021/acs.jproteome.5b00769. PMC 4777318. PMID 26680015.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000164007 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000066058 - 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.

[entrez-5] "Entrez Gene: CLDN19 claudin 19".

[6] Naeem, M.; Hussain, S.; Akhtar, N. (2011). "Mutation in the Tight-Junction Gene Claudin 19 (CLDN19) and Familial Hypomagnesemia, Hypercalciuria, Nephrocalcinosis (FHHNC) and Severe Ocular Disease". American Journal of Nephrology. 34 (3): 241–248. doi:10.1159/000330854. PMID 21791920.

[7] Konrad, M.; Schaller, A.; Seelow, D.; Pandey, A. V.; Waldegger, S.; Lesslauer, A.; Vitzthum, H.; Suzuki, Y.; Luk, J. M.; Becker, C.; Schlingmann, K. P.; Schmid, M.; Rodriguez-Soriano, J.; Ariceta, G.; Cano, F.; Enriquez, R.; Jüppner, H.; Bakkaloglu, S. A.; Hediger, M. A.; Gallati, S.; Neuhauss, S. C. F.; Nürnberg, P.; Weber, S. (2006). "Mutations in the Tight-Junction Gene Claudin 19 (CLDN19) Are Associated with Renal Magnesium Wasting, Renal Failure, and Severe Ocular Involvement". The American Journal of Human Genetics. 79 (5): 949–957. doi:10.1086/508617. PMC 1698561. PMID 17033971.

CLDN19

References

External links

Further reading