CLDN19

CLDN19
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCLDN19, HOMG5, claudin 19
External IDsMGI: 3033992 HomoloGene: 17528 GeneCards: CLDN19
Gene location (Human)
Chr.Chromosome 1 (human)[1]
Band1p34.2Start42,733,093 bp[1]
End42,740,254 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

149461

242653

Ensembl

ENSG00000164007

ENSMUSG00000066058

UniProt

Q8N6F1

Q9ET38

RefSeq (mRNA)

NM_148960
NM_001123395
NM_001185117

NM_001038590
NM_153105

RefSeq (protein)

NP_001116867
NP_001172046
NP_683763

NP_001033679
NP_694745

Location (UCSC)Chr 1: 42.73 – 42.74 MbChr 4: 119.26 – 119.26 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000164007 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000066058 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. 1 2 "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.

Further reading

  • 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. doi:10.1021/acs.jproteome.5b00769. PMID 26680015.


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