CDH5
cadherin 5
Summary
This gene encodes a classical cadherin of the cadherin superfamily. The encoded preproprotein is proteolytically processed to generate the mature glycoprotein. This calcium-dependent cell-cell adhesion molecule is comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Functioning as a classical cadherin by imparting to cells the ability to adhere in a homophilic manner, this protein plays a role in endothelial adherens junction assembly and maintenance. This gene is located in a gene cluster in a region on the long arm of chromosome 16 that is involved in loss of heterozygosity events in breast and prostate cancer. [provided by RefSeq, Nov 2015]
Known Variants69 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs547585305 | 16:66,413,265 | G/A | — | uncertain significance |
| rs571147218 | 16:66,413,277 | G/T | — | uncertain significance |
| rs192498108 | 16:66,413,292 | C/G | — | uncertain significance |
| rs1596930583 | 16:66,413,301 | G/A | — | uncertain significance |
| rs150000255 | 16:66,413,338 | G/A | — | uncertain significance |
| rs145261593 | 16:66,413,367 | C/G | — | uncertain significance |
| rs149125818 | 16:66,413,371 | G/A | — | uncertain significance |
| rs2507053450 | 16:66,413,442 | G/A | — | uncertain significance |
| rs1342694698 | 16:66,420,730 | C/T | — | uncertain significance |
| rs1596937199 | 16:66,420,766 | G/A | — | uncertain significance |
| rs1960992981 | 16:66,420,775 | G/A | — | uncertain significance |
| rs200524377 | 16:66,420,886 | G/C | — | uncertain significance |
| rs2507067861 | 16:66,420,941 | A/T | — | uncertain significance |
| rs1432069692 | 16:66,422,328 | G/T | — | uncertain significance |
| rs373056526 | 16:66,423,264 | G/A | — | uncertain significance |
| rs377054965 | 16:66,423,269 | A/G | — | likely benign |
| rs200122262 | 16:66,423,279 | C/T | — | uncertain significance |
| rs140053187 | 16:66,423,320 | G/C | — | uncertain significance |
| rs554877512 | 16:66,423,350 | C/T | — | uncertain significance |
| rs763466378 | 16:66,423,374 | G/A | — | uncertain significance |
| rs140545178 | 16:66,424,322 | C/T | — | benign |
| rs144855545 | 16:66,424,323 | G/A | — | uncertain significance |
| rs367968940 | 16:66,424,353 | G/C | — | likely benign |
| rs143548008 | 16:66,424,391 | G/C | — | conflicting classifications of pathogenicity |
| rs148046538 | 16:66,424,395 | C/T | — | uncertain significance |
| rs138621622 | 16:66,424,461 | G/A | — | likely benign |
| rs147523967 | 16:66,426,078 | G/C | — | uncertain significance |
| rs2507079073 | 16:66,426,117 | A/T | — | uncertain significance |
| rs762342061 | 16:66,426,120 | C/A | — | uncertain significance |
| rs1281590359 | 16:66,426,226 | A/T | — | uncertain significance |
| rs1972838 | 16:66,428,226 | A/C | intron variant | — |
| rs186527455 | 16:66,430,003 | G/A | — | uncertain significance |
| rs200897127 | 16:66,430,060 | C/T | — | uncertain significance |
| rs1018992485 | 16:66,431,887 | A/T | — | uncertain significance |
| rs1348736660 | 16:66,431,896 | G/C | — | uncertain significance |
| rs756929838 | 16:66,431,906 | C/A | — | uncertain significance |
| rs377281568 | 16:66,431,923 | A/G | — | uncertain significance |
| rs1049970 | 16:66,432,423 | T/C | missense variant | — |
| rs3826229 | 16:66,432,424 | C/A | synonymous variant | — |
| rs1961228544 | 16:66,432,429 | A/G | — | likely benign |
| rs1026312297 | 16:66,434,710 | T/A | — | uncertain significance |
| rs761878061 | 16:66,434,734 | A/G | — | uncertain significance |
| rs769543281 | 16:66,434,779 | C/T | — | uncertain significance |
| rs147993570 | 16:66,434,791 | C/T | — | uncertain significance |
| rs141990946 | 16:66,434,799 | G/A | — | uncertain significance |
| rs150701187 | 16:66,434,805 | G/T | — | uncertain significance |
| rs774722881 | 16:66,434,829 | G/A | — | uncertain significance |
| rs146321105 | 16:66,434,868 | G/A | — | uncertain significance |
| rs2507098135 | 16:66,434,889 | G/C | — | uncertain significance |
| rs201864402 | 16:66,436,578 | C/T | — | uncertain significance |
| rs139612718 | 16:66,436,582 | G/A | — | uncertain significance |
| rs538421773 | 16:66,436,584 | C/T | — | uncertain significance |
| rs1487892645 | 16:66,436,590 | C/T | — | uncertain significance |
| rs144347531 | 16:66,436,591 | G/A | — | uncertain significance |
| rs771947327 | 16:66,436,606 | C/T | — | uncertain significance |
| rs759015093 | 16:66,436,611 | G/A | — | uncertain significance |
| rs890134396 | 16:66,436,623 | C/A | — | uncertain significance |
| rs368981850 | 16:66,436,624 | C/G | — | uncertain significance |
| rs1414372849 | 16:66,436,723 | G/A | — | uncertain significance |
| rs775465660 | 16:66,436,744 | C/G | — | uncertain significance |
| rs1424162760 | 16:66,436,759 | G/A | — | uncertain significance |
| rs373238757 | 16:66,436,767 | C/T | — | uncertain significance |
| rs778877848 | 16:66,436,777 | A/G | — | uncertain significance |
| rs757793643 | 16:66,436,893 | G/A | — | uncertain significance |
| rs754669269 | 16:66,436,962 | G/A | — | uncertain significance |
| rs1270112336 | 16:66,437,004 | T/C | — | uncertain significance |
| rs372602492 | 16:66,437,040 | G/A | — | uncertain significance |
| rs760983483 | 16:66,437,052 | C/T | — | uncertain significance |
| rs1025156383 | 16:66,437,053 | G/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.