InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CLDN19

Summary

InnateDB Protein

IDBP-97249.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CLDN19

Protein Name

claudin 19

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000296387

InnateDB Gene

IDBG-97247 (CLDN19)

Protein Structure

UniProt Annotation

Function

Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity. {ECO:0000250}.

Subcellular Localization

Cell junction, tight junction. Cell membrane; Multi-pass membrane protein.

Disease Associations

Hypomagnesemia 5 (HOMG5) [MIM:248190]: 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. The renal phenotype is virtually undistinguishable from that of patients with HOMG3. {ECO:0000269PubMed:17033971}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.

Experimentally validated
Total	7 [view]
Protein-Protein	7 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005198	structural molecule activity
GO:0042802	identical protein binding

Biological Process

GO:0007601	visual perception
GO:0016338	calcium-independent cell-cell adhesion
GO:0019227	neuronal action potential propagation
GO:0043297	apical junction assembly
GO:0050896	response to stimulus

Cellular Component

GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005923	tight junction
GO:0016021	integral component of membrane
GO:0016323	basolateral plasma membrane
GO:0030054	cell junction
GO:0043296	apical junction complex