CDH16
cadherin 16
Summary
This gene is a member of the cadherin superfamily, genes encoding calcium-dependent, membrane-associated glycoproteins. Mapped to a previously identified cluster of cadherin genes on chromosome 16q22.1, the gene localizes with superfamily members CDH1, CDH3, CDH5, CDH8 and CDH11. The protein consists of an extracellular domain containing 6 cadherin domains, a transmembrane region and a truncated cytoplasmic domain but lacks the prosequence and tripeptide HAV adhesion recognition sequence typical of most classical cadherins. Expression is exclusively in kidney, where the protein functions as the principal mediator of homotypic cellular recognition, playing a role in the morphogenic direction of tissue development. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2011]
Known Variants56 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2544082055 | 16:66,942,341 | T/C | — | uncertain significance |
| rs150908551 | 16:66,942,368 | G/A | — | uncertain significance |
| rs765594447 | 16:66,943,224 | T/C | — | uncertain significance |
| rs781254169 | 16:66,943,248 | G/T | — | uncertain significance |
| rs140072479 | 16:66,943,266 | C/T | — | uncertain significance |
| rs972140258 | 16:66,943,918 | T/C | — | uncertain significance |
| rs34621310 | 16:66,944,180 | C/T | — | benign |
| rs766100275 | 16:66,944,217 | T/C | — | likely benign |
| rs2544090426 | 16:66,944,351 | G/A | — | uncertain significance |
| rs371785465 | 16:66,944,381 | G/A | — | likely benign |
| rs528580869 | 16:66,944,389 | G/T | — | uncertain significance |
| rs769703996 | 16:66,944,399 | G/A | — | uncertain significance |
| rs1243920228 | 16:66,945,096 | G/A | — | uncertain significance |
| rs758412639 | 16:66,945,124 | C/G | — | uncertain significance |
| rs987438656 | 16:66,945,818 | T/C | — | uncertain significance |
| rs533328241 | 16:66,945,854 | C/T | — | uncertain significance |
| rs762202034 | 16:66,945,946 | G/T | — | uncertain significance |
| rs1567532322 | 16:66,946,007 | C/T | — | uncertain significance |
| rs142722316 | 16:66,946,162 | T/C | — | likely benign |
| rs1208988523 | 16:66,946,182 | T/A | — | uncertain significance |
| rs769957582 | 16:66,946,209 | G/C | — | uncertain significance |
| rs542519457 | 16:66,946,242 | C/T | — | uncertain significance |
| rs147611353 | 16:66,946,255 | C/T | — | uncertain significance |
| rs2544098866 | 16:66,946,258 | G/A | — | uncertain significance |
| rs1174435508 | 16:66,946,273 | C/T | — | uncertain significance |
| rs540323401 | 16:66,946,438 | T/C | — | uncertain significance |
| rs762526771 | 16:66,946,454 | C/A | — | uncertain significance |
| rs138940422 | 16:66,946,578 | C/T | — | uncertain significance |
| rs202247581 | 16:66,946,591 | T/C | — | likely benign |
| rs775884406 | 16:66,946,683 | C/T | — | uncertain significance |
| rs145669990 | 16:66,946,696 | C/T | — | uncertain significance |
| rs76542431 | 16:66,946,718 | G/A | — | benign |
| rs377093351 | 16:66,946,740 | T/C | — | uncertain significance |
| rs764150313 | 16:66,946,746 | G/T | — | uncertain significance |
| rs566694068 | 16:66,946,750 | C/T | — | uncertain significance |
| rs1310795908 | 16:66,947,063 | G/A | — | uncertain significance |
| rs1195627827 | 16:66,947,102 | T/C | — | uncertain significance |
| rs758923877 | 16:66,947,118 | C/G | — | uncertain significance |
| rs995692438 | 16:66,947,127 | C/G | — | uncertain significance |
| rs773098450 | 16:66,947,168 | C/G | — | uncertain significance |
| rs146486731 | 16:66,947,448 | A/G | — | likely benign |
| rs140723714 | 16:66,947,467 | G/A | — | likely benign |
| rs2544109794 | 16:66,948,254 | G/T | — | uncertain significance |
| rs1200083710 | 16:66,948,268 | C/T | — | uncertain significance |
| rs530266688 | 16:66,948,294 | G/A | — | uncertain significance |
| rs756419589 | 16:66,949,153 | G/A | — | uncertain significance |
| rs1161059406 | 16:66,949,255 | A/G | — | uncertain significance |
| rs768527988 | 16:66,949,265 | G/C | — | uncertain significance |
| rs2544116088 | 16:66,950,025 | C/A | — | uncertain significance |
| rs200753859 | 16:66,950,085 | C/T | — | likely benign |
| rs548752794 | 16:66,950,301 | T/A | — | uncertain significance |
| rs368982362 | 16:66,950,319 | C/T | — | uncertain significance |
| rs200552390 | 16:66,951,537 | C/T | — | benign |
| rs143000205 | 16:66,951,589 | C/A | — | uncertain significance |
| rs372440647 | 16:66,951,618 | T/A | — | uncertain significance |
| rs138917041 | 16:66,951,928 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.