Version 5.4
Homo sapiens Gene: CLDN19
Summary
InnateDB Gene IDBG-97247.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CLDN19
Gene Name claudin 19
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000164007
Encoded Proteins
IDBP-97249
claudin 19
IDBP-97251
claudin 19
IDBP-600471
claudin 19
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:42733093-42740254
Strand Reverse strand
Band p34.2
Transcripts
ENST00000296387 ENSP00000296387
ENST00000372539 ENSP00000361617
ENST00000539749 ENSP00000443229
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000066058
View Gene Order
ENSBTAG00000017381
Not yet available
Pathways
NETPATH
REACTOME
REACT_19373
Tight junction interactions pathway
REACT_111155
Cell-Cell communication pathway
REACT_20676
Cell junction organization pathway
REACT_19331
Cell-cell junction organization pathway
KEGG
hsa04514
Cell adhesion molecules (CAMs) pathway
hsa04670
Leukocyte transendothelial migration pathway
hsa04530
Tight junction pathway
hsa05160
Hepatitis C pathway
INOH
PID NCI
Cross-References
SwissProt Q8N6F1
TrEMBL
UniProt Splice Variant
Entrez Gene 149461
UniGene
RefSeq NM_148960 NM_001123395 NM_001185117
HUGO HGNC:2040
OMIM 610036
CCDS CCDS471 CCDS44125 CCDS53306
HPRD 10834
IMGT
EMBL AC098484 AF497644 AK096063 AK298992 BC030524 CH471059
GenPept AAH30524 AAQ07256 BAC04691 BAH12918 EAX07147
RNA Seq Atlas 149461

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca