CLDN16
claudin 16
Summary
Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. It is found primarily in the kidneys, specifically in the thick ascending limb of Henle, where it acts as either an intercellular pore or ion concentration sensor to regulate the paracellular resorption of magnesium ions. Defects in this gene are a cause of primary hypomagnesemia, which is characterized by massive renal magnesium wasting with hypomagnesemia and hypercalciuria, resulting in nephrocalcinosis and renal failure. This gene and the CLDN1 gene are clustered on chromosome 3q28. [provided by RefSeq, Jun 2010]
Known Variants200 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1436662 | 3:190,021,928 | A/T | — | — |
| rs9290927 | 3:190,022,516 | A/C | — | — |
| rs9290929 | 3:190,043,739 | G/A | regulatory region variant | — |
| rs62278698 | 3:190,105,319 | G/A | — | benign |
| rs9865730 | 3:190,105,400 | G/A | — | benign |
| rs13080849 | 3:190,105,451 | T/C | — | benign |
| rs1718545875 | 3:190,105,703 | G/T | — | uncertain significance |
| rs1718547006 | 3:190,105,754 | C/T | — | uncertain significance |
| rs534883127 | 3:190,105,773 | T/C | — | uncertain significance |
| rs886058243 | 3:190,105,827 | A/G | — | uncertain significance |
| rs192579160 | 3:190,105,868 | C/T | — | likely benign |
| rs557493885 | 3:190,105,903 | C/T | — | uncertain significance |
| rs777259905 | 3:190,105,904 | G/A | — | uncertain significance |
| rs200322099 | 3:190,105,906 | A/T | — | uncertain significance |
| rs766056344 | 3:190,105,930 | T/C | — | likely benign |
| rs1718552273 | 3:190,105,935 | T/C | — | likely benign |
| rs144731880 | 3:190,105,970 | G/T | — | conflicting classifications of pathogenicity |
| rs1236835717 | 3:190,105,979 | A/G | — | likely benign |
| rs145475632 | 3:190,105,985 | G/A | — | conflicting classifications of pathogenicity |
| rs762405207 | 3:190,105,987 | G/A | — | uncertain significance |
| rs763354782 | 3:190,106,003 | G/T | — | uncertain significance |
| rs1456194869 | 3:190,106,015 | C/T | — | uncertain significance |
| rs762080532 | 3:190,106,021 | G/A | — | uncertain significance |
| rs751220222 | 3:190,106,022 | C/T | — | likely benign |
| rs749083950 | 3:190,106,051 | C/A | — | likely benign |
| rs558573665 | 3:190,106,054 | G/A | — | uncertain significance |
| rs1390469433 | 3:190,106,056 | C/T | — | likely benign |
| rs1458256618 | 3:190,106,057 | A/G | — | uncertain significance |
| rs201380153 | 3:190,106,072 | G/A | — | uncertain significance |
| rs3214506 | 3:190,106,074 | G/C | — | benign |
| rs149955797 | 3:190,106,078 | G/T | — | uncertain significance |
| rs767119879 | 3:190,106,094 | C/G | — | uncertain significance |
| rs752230428 | 3:190,106,096 | A/G | — | conflicting classifications of pathogenicity |
| rs1210662953 | 3:190,106,101 | G/T | — | uncertain significance |
| rs1318788506 | 3:190,106,119 | A/G | — | uncertain significance |
| rs104893724 | 3:190,106,120 | T/G | missense variant | pathogenic |
| rs372525072 | 3:190,106,122 | A/T | — | uncertain significance |
| rs1718561810 | 3:190,106,133 | T/C | — | likely benign |
| rs867514971 | 3:190,106,135 | A/C | — | uncertain significance |
| rs375640819 | 3:190,106,137 | T/C | — | uncertain significance |
| rs145118503 | 3:190,106,140 | A/G | — | conflicting classifications of pathogenicity |
| rs372129081 | 3:190,106,142 | C/T | — | likely benign |
| rs965435011 | 3:190,106,143 | G/C | — | uncertain significance |
| rs977137021 | 3:190,106,155 | G/A | — | uncertain significance |
| rs149116671 | 3:190,106,163 | C/G | — | benign |
| rs1718563800 | 3:190,106,165 | C/T | — | uncertain significance |
| rs1181105329 | 3:190,106,171 | G/A | — | uncertain significance |
| rs771742472 | 3:190,106,180 | T/C | — | uncertain significance |
| rs1293775732 | 3:190,106,185 | G/A | — | likely pathogenic |
| rs2473775098 | 3:190,106,191 | T/G | — | uncertain significance |
| rs2473775106 | 3:190,106,195 | C/T | — | uncertain significance |
| rs1064795763 | 3:190,106,205 | G/C | — | uncertain significance |
| rs201545856 | 3:190,106,217 | T/C | — | uncertain significance |
| rs753777323 | 3:190,106,218 | G/A | — | uncertain significance |
| rs2108658339 | 3:190,106,221 | G/A | — | likely pathogenic |
| rs761873372 | 3:190,106,224 | T/C | — | uncertain significance |
| rs1491994 | 3:190,106,242 | T/C | — | benign |
| rs369250510 | 3:190,106,245 | C/G | — | conflicting classifications of pathogenicity |
| rs1491993 | 3:190,106,332 | T/A | — | benign |
| rs1491992 | 3:190,106,352 | A/G | — | benign |
| rs79157522 | 3:190,120,096 | G/A | — | likely benign |
| rs762740548 | 3:190,120,119 | C/T | — | likely benign |
| rs528344809 | 3:190,120,128 | G/A | — | conflicting classifications of pathogenicity |
| rs753901053 | 3:190,120,141 | C/T | — | pathogenic |
| rs2108670592 | 3:190,120,148 | T/C | — | likely pathogenic |
| rs104893732 | 3:190,120,151 | G/A | stop gained | pathogenic |
| rs1430185772 | 3:190,120,159 | T/G | — | not provided |
| rs149965853 | 3:190,120,160 | G/A | — | conflicting classifications of pathogenicity |
| rs370592530 | 3:190,120,161 | C/T | — | likely benign |
| rs144105475 | 3:190,120,176 | T/C | — | likely benign |
| rs56147287 | 3:190,120,182 | G/A | — | likely benign |
| rs1577429403 | 3:190,120,200 | G/A | — | likely benign |
| rs199651054 | 3:190,120,203 | C/T | — | conflicting classifications of pathogenicity |
| rs765256758 | 3:190,120,217 | C/T | missense variant | pathogenic |
| rs137882210 | 3:190,120,218 | G/A | — | conflicting classifications of pathogenicity |
| rs758799163 | 3:190,120,221 | G/A | — | likely benign |
| rs1718987504 | 3:190,120,229 | G/A | — | likely pathogenic |
| rs751959432 | 3:190,120,233 | G/A | — | pathogenic |
| rs77798557 | 3:190,120,252 | G/T | — | likely benign |
| rs151046044 | 3:190,122,248 | T/G | — | likely benign |
| rs2288234 | 3:190,122,332 | A/G | — | benign |
| rs74835022 | 3:190,122,473 | T/G | — | likely benign |
| rs369491187 | 3:190,122,537 | C/T | — | likely benign |
| rs1719047633 | 3:190,122,541 | G/A | — | uncertain significance |
| rs104893731 | 3:190,122,557 | T/C | missense variant | pathogenic |
| rs771816868 | 3:190,122,565 | A/G | — | uncertain significance |
| rs104893720 | 3:190,122,568 | C/T | stop gained | pathogenic |
| rs968906940 | 3:190,122,569 | G/A | — | pathogenic |
| rs373411163 | 3:190,122,573 | G/A | — | likely benign |
| rs104893730 | 3:190,122,575 | T/G | missense variant | pathogenic |
| rs104893729 | 3:190,122,576 | G/T | missense variant | pathogenic |
| rs2473794865 | 3:190,122,622 | C/G | — | uncertain significance |
| rs104893725 | 3:190,122,623 | T/C | missense variant | pathogenic |
| rs745420355 | 3:190,122,657 | T/C | — | likely benign |
| rs140829596 | 3:190,122,662 | C/T | — | uncertain significance |
| rs1719054513 | 3:190,122,688 | G/T | — | uncertain significance |
| rs104893722 | 3:190,122,694 | G/A | missense variant | pathogenic |
| rs1007522348 | 3:190,122,707 | T/C | — | pathogenic |
| rs1577430815 | 3:190,122,715 | G/C | — | likely pathogenic |
| rs756905865 | 3:190,122,720 | C/T | — | likely benign |
Showing 100 of 200 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.