CLDN19 (original) (raw)

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Protein-coding gene in the species Homo sapiens

CLDN19
Available structuresPDBOrtholog search: PDBe RCSB List of PDB id codes3X29
Identifiers
Aliases	CLDN19, HOMG5, claudin 19
External IDs	OMIM: 610036; MGI: 3033992; HomoloGene: 17528; GeneCards: CLDN19; OMA:CLDN19 - orthologs
Gene location (Human)Chr.Chromosome 1 (human)[1]Band1p34.2Start42,733,093 bp[1]End42,740,254 bp[1]
Gene location (Mouse)Chr.Chromosome 4 (mouse)[2]Band4|4 D2.1Start119,112,611 bp[2]End119,119,635 bp[2]
RNA expression patternBgeeHuman Mouse (ortholog)Top expressed intrigeminal ganglionspinal gangliaretinal pigment epitheliumrenal medullatibial nervevena cavaepithelium of nasopharynxbody of tongueventral tegmental areatracheaTop expressed insciatic nerveright kidneyinner renal medullaouter renal medullaspinal ganglialiphuman kidneylensembryomuscle of thighMore reference expression dataBioGPSn/a
Gene ontologyMolecular function structural molecule activity identical protein binding protein binding Cellular component cytoplasm integral component of membrane cell junction plasma membrane basolateral plasma membrane apical junction complex 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
OrthologsSpeciesHuman MouseEntrez149461242653EnsemblENSG00000164007ENSMUSG00000066058UniProtQ8N6F1Q9ET38RefSeq (mRNA)NM_148960NM_001123395NM_001185117NM_001038590NM_153105RefSeq (protein)NP_001116867NP_001172046NP_683763NP_001033679NP_694745Location (UCSC)Chr 1: 42.73 – 42.74 MbChr 4: 119.11 – 119.12 MbPubMed 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]

1. ^ a b c GRCh38: Ensembl release 89: ENSG00000164007 – Ensembl, May 2017
2. ^ a b c 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.
5. ^ a b "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 AV, Waldegger S, Lesslauer A, et al. (November 2006). "Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement". American Journal of Human Genetics. 79 (5): 949–957. doi:10.1086/508617. PMC 1698561. PMID 17033971.

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

• Kniesel U, Wolburg H (February 2000). "Tight junctions of the blood-brain barrier". Cellular and Molecular Neurobiology. 20 (1): 57–76. doi:10.1023/A:1006995910836. PMID 10690502. S2CID 26473781.

• Heiskala M, Peterson PA, Yang Y (February 2001). "The roles of claudin superfamily proteins in paracellular transport". Traffic. 2 (2): 93–98. doi:10.1034/j.1600-0854.2001.020203.x. PMID 11247307. S2CID 12132159.

• Tsukita S, Furuse M, Itoh M (April 2001). "Multifunctional strands in tight junctions". Nature Reviews. Molecular Cell Biology. 2 (4): 285–293. doi:10.1038/35067088. PMID 11283726. S2CID 36524601.

• Tsukita S, Furuse M (October 2002). "Claudin-based barrier in simple and stratified cellular sheets". Current Opinion in Cell Biology. 14 (5): 531–536. doi:10.1016/S0955-0674(02)00362-9. PMID 12231346.

• González-Mariscal L, Betanzos A, Nava P, Jaramillo BE (January 2003). "Tight junction proteins". Progress in Biophysics and Molecular Biology. 81 (1): 1–44. doi:10.1016/S0079-6107(02)00037-8. PMID 12475568.

• Lee NP, Tong MK, Leung PP, Chan VW, Leung S, Tam PC, et al. (February 2006). "Kidney claudin-19: localization in distal tubules and collecting ducts and dysregulation in polycystic renal disease". FEBS Letters. 580 (3): 923–931. Bibcode:2006FEBSL.580..923L. doi:10.1016/j.febslet.2006.01.019. PMID 16427635. S2CID 21297265.

• Konrad M, Schaller A, Seelow D, Pandey AV, Waldegger S, Lesslauer A, et al. (November 2006). "Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement". American Journal of Human Genetics. 79 (5): 949–957. doi:10.1086/508617. PMC 1698561. PMID 17033971.

• Liu F, Koval M, Ranganathan S, Fanayan S, Hancock WS, Lundberg EK, et al. (February 2016). "Systems Proteomics View of the Endogenous Human Claudin Protein Family". Journal of Proteome Research. 15 (2): 339–359. doi:10.1021/acs.jproteome.5b00769. PMC 4777318. PMID 26680015.