CLDN16 (claudin 16)

2008-12-01  

Identity

HGNC
LOCATION
3q28
LOCUSID
ALIAS
HOMG3,PCLN1
FUSION GENES

Other Information

Locus ID:

NCBI: 10686
MIM: 603959
HGNC: 2037

Variants:

dbSNP: 10686
ClinVar: 10686
COSMIC: CLDN16

Expression (GTEx)

0
5
10
15

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

Protein levels

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
357142162022A Novel Mutation in CLDN16 Gene Causing Familial Hypomagnesemia, Hypercalciuria, Nephrocalcinosis in An Iranian Family.1
357142162022A Novel Mutation in CLDN16 Gene Causing Familial Hypomagnesemia, Hypercalciuria, Nephrocalcinosis in An Iranian Family.1
305768092019Characterization of two novel mutations in the claudin-16 and claudin-19 genes that cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis.5
306216082019Exonic CLDN16 mutations associated with familial hypomagnesemia with hypercalciuria and nephrocalcinosis can induce deleterious mRNA alterations.4
313575022019In-Depth Bioinformatic Study of the CLDN16 Gene and Protein: Prediction of Subcellular Localization to Mitochondria.0
305768092019Characterization of two novel mutations in the claudin-16 and claudin-19 genes that cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis.5
306216082019Exonic CLDN16 mutations associated with familial hypomagnesemia with hypercalciuria and nephrocalcinosis can induce deleterious mRNA alterations.4
313575022019In-Depth Bioinformatic Study of the CLDN16 Gene and Protein: Prediction of Subcellular Localization to Mitochondria.0
299679392018Sex-specific genetic predictors of Alzheimer's disease biomarkers.59
302321342018Claudin-14 Gene Polymorphisms and Urine Calcium Excretion.7
299679392018Sex-specific genetic predictors of Alzheimer's disease biomarkers.59
302321342018Claudin-14 Gene Polymorphisms and Urine Calcium Excretion.7
286232322017The RING finger- and PDZ domain-containing protein PDZRN3 controls localization of the Mg(2+) regulator claudin-16 in renal tube epithelial cells.15
286232322017The RING finger- and PDZ domain-containing protein PDZRN3 controls localization of the Mg(2+) regulator claudin-16 in renal tube epithelial cells.15
264269122016Claudin-16 Deficiency Impairs Tight Junction Function in Ameloblasts, Leading to Abnormal Enamel Formation.24

Citation

Dessen P

CLDN16 (claudin 16)

Atlas Genet Cytogenet Oncol Haematol. 2008-12-01

Online version: http://atlasgeneticsoncology.org/gene/50472/meetings/teaching-explorer/css/lib/bootstrap.min.css