CLDN19

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CLDN19
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases CLDN19, HOMG5, claudin 19
External IDs MGI: 3033992 HomoloGene: 17528 GeneCards: CLDN19
Gene location (Human)
Chromosome 1 (human)
Chr. Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for CLDN19
Genomic location for CLDN19
Band 1p34.2 Start 42,733,093 bp[1]
End 42,740,254 bp[1]
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
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 Mb Chr 1: 119.26 – 119.26 Mb
PubMed search [3] [4]
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[edit]

  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:". 
  4. ^ "Mouse PubMed Reference:". 
  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, 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 1698561Freely accessible. PMID 17033971. 

External links[edit]

Further reading[edit]