Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 149461
MIM: 610036
HGNC: 2040
Ensembl: ENSG00000164007
Variants:
dbSNP: 149461
ClinVar: 149461
TCGA: ENSG00000164007
COSMIC: CLDN19
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000164007 | ENST00000296387 | Q8N6F1 |
| ENSG00000164007 | ENST00000372539 | Q8N6F1 |
| ENSG00000164007 | ENST00000539749 | Q8N6F1 |
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33591357 | 2021 | Knockdown of Claudin-19 in the Retinal Pigment Epithelium Is Accompanied by Slowed Phagocytosis and Increased Expression of SQSTM1. | 2 |
| 33929692 | 2021 | Heterogeneity is a common ground in familial hypomagnesemia with hypercalciuria and nephrocalcinosis caused by CLDN19 gene mutations. | 1 |
| 33591357 | 2021 | Knockdown of Claudin-19 in the Retinal Pigment Epithelium Is Accompanied by Slowed Phagocytosis and Increased Expression of SQSTM1. | 2 |
| 33929692 | 2021 | Heterogeneity is a common ground in familial hypomagnesemia with hypercalciuria and nephrocalcinosis caused by CLDN19 gene mutations. | 1 |
| 30576809 | 2019 | Characterization of two novel mutations in the claudin-16 and claudin-19 genes that cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis. | 5 |
| 30937396 | 2019 | Disease-associated mutations of claudin-19 disrupt retinal neurogenesis and visual function. | 9 |
| 30576809 | 2019 | Characterization of two novel mutations in the claudin-16 and claudin-19 genes that cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis. | 5 |
| 30937396 | 2019 | Disease-associated mutations of claudin-19 disrupt retinal neurogenesis and visual function. | 9 |
| 30067419 | 2018 | Familial non-syndromic macular pseudocoloboma secondary to homozygous CLDN19 mutation. | 3 |
| 30232134 | 2018 | Claudin-14 Gene Polymorphisms and Urine Calcium Excretion. | 7 |
| 30067419 | 2018 | Familial non-syndromic macular pseudocoloboma secondary to homozygous CLDN19 mutation. | 3 |
| 30232134 | 2018 | Claudin-14 Gene Polymorphisms and Urine Calcium Excretion. | 7 |
| 27593915 | 2016 | Claudin-3 and claudin-19 partially restore native phenotype to ARPE-19 cells via effects on tight junctions and gene expression. | 12 |
| 27593915 | 2016 | Claudin-3 and claudin-19 partially restore native phenotype to ARPE-19 cells via effects on tight junctions and gene expression. | 12 |
| 25410674 | 2015 | Haplotype analysis of CLDN19 single nucleotide polymorphisms in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis. | 5 |
Citation
Dessen P
CLDN19 (claudin 19)
Atlas Genet Cytogenet Oncol Haematol. 2017-08-01
Online version: http://atlasgeneticsoncology.org/gene/56945/cldn19-(claudin-19)
