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RNA tissue category: Group enriched (kidney, placenta)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (kidney)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (retina, kidney, placenta)
GENE INFORMATION
Gene name
CLDN19
Synonyms
Description
Claudin 19 (HGNC Symbol)
Entrez gene summary
The product of this gene belongs to the claudin family. It plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. Defects in this gene are the cause of hypomagnesemia renal with ocular involvement (HOMGO). HOMGO is a progressive renal disease characterized by primary renal magnesium wasting with hypomagnesemia, hypercalciuria and nephrocalcinosis associated with severe ocular abnormalities such as bilateral chorioretinal scars, macular colobomata, significant myopia and nystagmus. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jun 2010]