CLDN19
Gene Information
- Official Symbol: CLDN19
- Official Name: claudin 19
- Aliases and Previous Symbols: N/A
- Entrez ID: 149461
- UniProt: Q8N6F1
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez 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].
- UniProt Summary: Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity. {ECO:0000250}.
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 16451
- Expression level (log2 read counts): 1.05
CLDN19 Expression in NALM6 Cells: 1.05
