OCLN
occludin
Summary
This gene encodes an integral membrane protein that is required for cytokine-induced regulation of the tight junction paracellular permeability barrier. Mutations in this gene are thought to be a cause of band-like calcification with simplified gyration and polymicrogyria (BLC-PMG), an autosomal recessive neurologic disorder that is also known as pseudo-TORCH syndrome. Alternative splicing results in multiple transcript variants. A related pseudogene is present 1.5 Mb downstream on the q arm of chromosome 5. [provided by RefSeq, Apr 2011]
Known Variants104 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3733742 | 5:68,788,261 | A/G | — | benign |
| rs115253607 | 5:68,788,469 | C/T | — | benign |
| rs571200988 | 5:68,788,480 | G/A | — | likely benign |
| rs1366392038 | 5:68,788,502 | C/G | — | likely benign |
| rs28513225 | 5:68,788,813 | C/T | — | benign |
| rs112668231 | 5:68,788,959 | C/T | — | benign |
| rs542267694 | 5:68,795,703 | C/T | — | — |
| rs1561331778 | 5:68,800,002 | A/G | — | uncertain significance |
| rs113706384 | 5:68,800,075 | T/C | — | uncertain significance |
| rs1032322032 | 5:68,800,083 | G/C | — | uncertain significance |
| rs1580547828 | 5:68,800,123 | T/C | — | likely pathogenic |
| rs753998578 | 5:68,800,139 | T/C | — | likely benign |
| rs73116901 | 5:68,804,744 | T/C | — | benign |
| rs73772567 | 5:68,804,825 | T/C | — | benign |
| rs898963712 | 5:68,804,956 | T/C | — | conflicting classifications of pathogenicity |
| rs1029605974 | 5:68,804,960 | C/A | — | likely benign |
| rs370812139 | 5:68,804,974 | G/A | — | likely benign |
| rs147125035 | 5:68,804,987 | C/G | — | likely benign |
| rs373915080 | 5:68,805,023 | C/T | — | pathogenic |
| rs753732841 | 5:68,805,038 | C/G | — | uncertain significance |
| rs2531120694 | 5:68,805,078 | A/C | — | uncertain significance |
| rs552617487 | 5:68,805,092 | A/C | — | uncertain significance |
| rs765022975 | 5:68,805,093 | C/T | — | uncertain significance |
| rs116363086 | 5:68,805,114 | G/T | — | uncertain significance |
| rs766112658 | 5:68,805,116 | A/T | — | uncertain significance |
| rs1229248268 | 5:68,805,121 | G/C | — | likely benign |
| rs778368708 | 5:68,805,125 | A/G | — | uncertain significance |
| rs771276299 | 5:68,805,132 | T/G | — | uncertain significance |
| rs201378122 | 5:68,805,150 | C/T | — | uncertain significance |
| rs1057522081 | 5:68,805,154 | C/T | — | likely benign |
| rs765225540 | 5:68,805,233 | T/C | — | uncertain significance |
| rs2531121558 | 5:68,805,239 | G/A | — | uncertain significance |
| rs2531121671 | 5:68,805,264 | G/A | — | uncertain significance |
| rs138515133 | 5:68,805,275 | T/C | — | uncertain significance |
| rs1768709810 | 5:68,805,277 | T/C | — | likely benign |
| rs2531121837 | 5:68,805,288 | A/G | — | uncertain significance |
| rs749839176 | 5:68,805,297 | G/A | — | uncertain significance |
| rs150730577 | 5:68,805,301 | C/T | — | conflicting classifications of pathogenicity |
| rs774332591 | 5:68,805,311 | A/G | — | uncertain significance |
| rs899798595 | 5:68,805,329 | A/C | — | uncertain significance |
| rs1021937324 | 5:68,805,347 | A/T | — | uncertain significance |
| rs28562785 | 5:68,805,369 | C/T | — | conflicting classifications of pathogenicity |
| rs779726887 | 5:68,805,371 | G/A | — | uncertain significance |
| rs142569075 | 5:68,805,372 | C/T | — | likely benign |
| rs750117339 | 5:68,805,373 | G/A | — | likely benign |
| rs576758998 | 5:68,805,375 | T/C | — | uncertain significance |
| rs139928771 | 5:68,805,386 | G/T | — | conflicting classifications of pathogenicity |
| rs779033708 | 5:68,805,389 | A/G | — | uncertain significance |
| rs756715369 | 5:68,805,390 | C/T | — | uncertain significance |
| rs2111975479 | 5:68,805,399 | T/C | — | uncertain significance |
| rs773364912 | 5:68,805,410 | A/C | — | uncertain significance |
| rs1390469424 | 5:68,805,430 | C/A | — | pathogenic |
| rs1768719192 | 5:68,805,444 | T/C | — | uncertain significance |
| rs769537331 | 5:68,805,461 | C/T | — | likely benign |
| rs1580554633 | 5:68,805,463 | G/C | — | likely pathogenic |
| rs764005265 | 5:68,805,488 | A/G | — | uncertain significance |
| rs2531122929 | 5:68,805,519 | C/T | — | uncertain significance |
| rs1446306751 | 5:68,805,523 | G/C | — | uncertain significance |
| rs2531123135 | 5:68,805,544 | T/C | — | likely benign |
| rs1768724141 | 5:68,805,548 | C/A | — | uncertain significance |
| rs755500864 | 5:68,805,551 | A/G | — | uncertain significance |
| rs1368044140 | 5:68,805,554 | T/C | — | uncertain significance |
| rs267606926 | 5:68,805,573 | T/C | missense variant | pathogenic |
| rs777860360 | 5:68,805,576 | A/G | — | uncertain significance |
| rs35107257 | 5:68,805,616 | G/A | — | benign |
| rs200609277 | 5:68,805,624 | A/G | — | uncertain significance |
| rs2111976750 | 5:68,805,629 | G/A | — | uncertain significance |
| rs1472215562 | 5:68,805,641 | C/T | — | likely pathogenic |
| rs79982221 | 5:68,805,934 | C/T | — | likely benign |
| rs149378738 | 5:68,808,834 | C/T | regulatory region variant | — |
| rs116499721 | 5:68,809,452 | C/T | — | likely benign |
| rs760192677 | 5:68,809,768 | T/C | — | likely benign |
| rs148494605 | 5:68,809,776 | C/T | — | uncertain significance |
| rs2111989926 | 5:68,809,778 | A/G | — | uncertain significance |
| rs142683205 | 5:68,809,799 | A/G | — | likely benign |
| rs1768856867 | 5:68,809,855 | G/A | — | likely benign |
| rs559132071 | 5:68,809,856 | A/G | — | uncertain significance |
| rs2531136220 | 5:68,809,880 | A/G | — | uncertain significance |
| rs1309670545 | 5:68,809,887 | G/T | — | uncertain significance |
| rs2531136297 | 5:68,809,898 | C/A | — | uncertain significance |
| rs200654651 | 5:68,809,905 | A/G | — | uncertain significance |
| rs373344533 | 5:68,809,916 | C/T | — | conflicting classifications of pathogenicity |
| rs369518478 | 5:68,830,551 | G/A | — | likely benign |
| rs1464959353 | 5:68,830,573 | A/T | — | uncertain significance |
| rs1554055471 | 5:68,830,629 | A/G | — | uncertain significance |
| rs201673353 | 5:68,830,633 | G/A | — | uncertain significance |
| rs748442113 | 5:68,830,667 | G/A | — | pathogenic |
| rs797045840 | 5:68,830,671 | G/A | — | pathogenic |
| rs1769684609 | 5:68,840,747 | C/T | — | likely pathogenic |
| rs756058631 | 5:68,840,792 | C/T | — | uncertain significance |
| rs1769687248 | 5:68,840,799 | G/C | — | uncertain significance |
| rs754492560 | 5:68,840,804 | G/T | — | uncertain significance |
| rs539541122 | 5:68,840,909 | G/A | — | uncertain significance |
| rs767324023 | 5:68,840,911 | C/T | — | conflicting classifications of pathogenicity |
| rs187376284 | 5:68,843,615 | C/A | — | likely benign |
| rs2531217950 | 5:68,843,756 | G/A | — | likely pathogenic |
| rs557582327 | 5:68,843,802 | G/A | — | likely benign |
| rs759507153 | 5:68,843,827 | G/T | — | pathogenic |
| rs758064155 | 5:68,843,903 | A/G | — | likely benign |
| rs776456723 | 5:68,849,441 | G/C | — | likely benign |
Showing 100 of 104 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.