CLDN19 (claudin 19)

2017-08-01  

Identity

HGNC
LOCATION
1p34.2
LOCUSID
ALIAS
HOMG5

Other Information

Locus ID:

NCBI: 149461
MIM: 610036
HGNC: 2040
Ensembl: ENSG00000164007

Variants:

dbSNP: 149461
ClinVar: 149461
TCGA: ENSG00000164007
COSMIC: CLDN19

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164007ENST00000296387Q8N6F1
ENSG00000164007ENST00000372539Q8N6F1
ENSG00000164007ENST00000539749Q8N6F1

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
Cell adhesion molecules (CAMs)KEGGko04514
Tight junctionKEGGko04530
Leukocyte transendothelial migrationKEGGko04670
Cell adhesion molecules (CAMs)KEGGhsa04514
Tight junctionKEGGhsa04530
Leukocyte transendothelial migrationKEGGhsa04670
Hepatitis CKEGGko05160
Hepatitis CKEGGhsa05160
Cell-Cell communicationREACTOMER-HSA-1500931
Cell junction organizationREACTOMER-HSA-446728
Cell-cell junction organizationREACTOMER-HSA-421270
Tight junction interactionsREACTOMER-HSA-420029

References

Pubmed IDYearTitleCitations
170339712006Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement.133
224225402012Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: phenotype-genotype correlation and outcome in 32 patients with CLDN16 or CLDN19 mutations.15
233010362013Claudin-19 mutations and clinical phenotype in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.11
210305772011Renal, ocular, and neuromuscular involvements in patients with CLDN19 mutations.9
254106742015Haplotype analysis of CLDN19 single nucleotide polymorphisms in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.4
275939152016Claudin-3 and claudin-19 partially restore native phenotype to ARPE-19 cells via effects on tight junctions and gene expression.4
302321342018Claudin-14 Gene Polymorphisms and Urine Calcium Excretion.4
227343042012Hypomagnesemia-hypercalciuria-nephrocalcinosis and ocular findings: a new claudin-19 mutation.3
235383622013Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC): report of three cases with a novel mutation in CLDN19 gene.3
255557442015First report of a novel missense CLDN19 mutations causing familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a Chinese family.3

Citation

Dessen P

CLDN19 (claudin 19)

Atlas Genet Cytogenet Oncol Haematol. 2017-08-01

Online version: http://atlasgeneticsoncology.org/gene/56945/cldn19