Homo sapiens Protein: CLDN16 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-69658.5 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | CLDN16 | ||||||||||||||||||
Protein Name | claudin 16 | ||||||||||||||||||
Synonyms | HOMG3; PCLN1; | ||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000264734 | ||||||||||||||||||
InnateDB Gene | IDBG-69656 (CLDN16) | ||||||||||||||||||
Protein Structure |
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UniProt Annotation | |||||||||||||||||||
Function | Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity. Involved in paracellular magnesium reabsorption. Required for a selective paracellular conductance. May form, alone or in partnership with other constituents, an intercellular pore permitting paracellular passage of magnesium and calcium ions down their electrochemical gradients. Alternatively, it could be a sensor of magnesium concentration that could alter paracellular permeability mediated by other factors. | ||||||||||||||||||
Subcellular Localization | Cell junction, tight junction. Cell membrane; Multi-pass membrane protein. | ||||||||||||||||||
Disease Associations | Hypomagnesemia 3 (HOMG3) [MIM:248250]: A progressive renal disease characterized by primary renal magnesium wasting with hypomagnesemia, hypercalciuria and nephrocalcinosis. Recurrent urinary tract infections and kidney stones are often observed. In spite of hypercalciuria, patients do not show hypocalcemia. {ECO:0000269PubMed:10390358, ECO:0000269PubMed:10878661, ECO:0000269PubMed:11518780}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||
Tissue Specificity | Kidney-specific, including the thick ascending limb of Henle (TAL). | ||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR003927
Claudin-16 IPR004031 PMP-22/EMP/MP20/Claudin superfamily IPR006187 Claudin |
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PFAM |
PF00822
PF13903 |
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PRINTS |
PR01447
PR01077 |
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PIRSF | |||||||||||||||||||
SMART | |||||||||||||||||||
TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | Q9Y5I7 | ||||||||||||||||||
PhosphoSite | PhosphoSite-Q9Y5I7 | ||||||||||||||||||
TrEMBL | |||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 10686 | ||||||||||||||||||
UniGene | Hs.635625 | ||||||||||||||||||
RefSeq | NP_006571 | ||||||||||||||||||
HUGO | HGNC:2037 | ||||||||||||||||||
OMIM | 603959 | ||||||||||||||||||
CCDS | CCDS3296 | ||||||||||||||||||
HPRD | 04906 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AF152101 BC069662 BC069682 BC069759 BC069777 | ||||||||||||||||||
GenPept | AAD43096 AAH69662 AAH69682 AAH69759 AAH69777 | ||||||||||||||||||