CDH17
cadherin 17
Summary
This gene is a member of the cadherin superfamily, genes encoding calcium-dependent, membrane-associated glycoproteins. The encoded protein is cadherin-like, consisting of an extracellular region, containing 7 cadherin domains, and a transmembrane region but lacking the conserved cytoplasmic domain. The protein is a component of the gastrointestinal tract and pancreatic ducts, acting as an intestinal proton-dependent peptide transporter in the first step in oral absorption of many medically important peptide-based drugs. The protein may also play a role in the morphological organization of liver and intestine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]
Known Variants53 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs145032499 | 8:95,140,503 | C/T | — | uncertain significance |
| rs1314697615 | 8:95,140,524 | C/T | — | uncertain significance |
| rs757040010 | 8:95,142,887 | C/A | — | uncertain significance |
| rs146691258 | 8:95,142,888 | T/C | — | likely benign |
| rs2537183268 | 8:95,142,956 | T/C | — | uncertain significance |
| rs377593854 | 8:95,143,137 | G/A | — | uncertain significance |
| rs1051624 | 8:95,143,172 | T/G | — | benign |
| rs1237135515 | 8:95,143,183 | A/G | — | likely benign |
| rs190508151 | 8:95,153,033 | G/C | intron variant | — |
| rs1812733124 | 8:95,158,185 | T/C | — | uncertain significance |
| rs145864525 | 8:95,158,202 | G/A | — | benign |
| rs761448767 | 8:95,158,227 | C/T | — | uncertain significance |
| rs764816423 | 8:95,158,228 | G/A | — | uncertain significance |
| rs768539599 | 8:95,158,282 | T/A | — | uncertain significance |
| rs2537220733 | 8:95,158,290 | T/C | — | uncertain significance |
| rs772599321 | 8:95,158,299 | A/G | — | uncertain significance |
| rs1175483212 | 8:95,158,348 | C/T | — | uncertain significance |
| rs775111623 | 8:95,160,980 | G/C | — | uncertain significance |
| rs201852873 | 8:95,161,011 | C/T | — | uncertain significance |
| rs146717394 | 8:95,161,080 | T/C | — | uncertain significance |
| rs776132952 | 8:95,164,094 | A/G | — | uncertain significance |
| rs189236130 | 8:95,164,135 | C/G | — | uncertain significance |
| rs1162878876 | 8:95,164,184 | C/T | — | uncertain significance |
| rs1291542149 | 8:95,164,226 | T/A | — | likely benign |
| rs751417618 | 8:95,164,256 | T/C | — | uncertain significance |
| rs2537240354 | 8:95,164,316 | C/G | — | uncertain significance |
| rs2537240378 | 8:95,164,321 | G/A | — | uncertain significance |
| rs769157894 | 8:95,164,339 | G/C | — | uncertain significance |
| rs73695135 | 8:95,172,254 | C/T | — | benign |
| rs1313719824 | 8:95,172,356 | A/T | — | uncertain significance |
| rs147833454 | 8:95,172,383 | T/C | — | benign |
| rs146551919 | 8:95,174,367 | G/T | — | uncertain significance |
| rs117433120 | 8:95,177,291 | C/G | regulatory region variant | — |
| rs780461216 | 8:95,178,006 | A/G | — | uncertain significance |
| rs771584717 | 8:95,178,091 | A/G | — | uncertain significance |
| rs149347157 | 8:95,178,096 | C/A | — | uncertain significance |
| rs144661302 | 8:95,178,186 | A/C | — | uncertain significance |
| rs2537284857 | 8:95,182,633 | T/G | — | uncertain significance |
| rs369436985 | 8:95,182,723 | G/A | — | uncertain significance |
| rs143655105 | 8:95,183,176 | A/G | — | likely benign |
| rs111589116 | 8:95,183,191 | G/A | — | likely benign |
| rs1435064928 | 8:95,186,087 | C/A | — | uncertain significance |
| rs148329746 | 8:95,186,120 | C/A | — | uncertain significance |
| rs753414800 | 8:95,186,444 | C/T | — | uncertain significance |
| rs749843382 | 8:95,188,774 | C/T | — | uncertain significance |
| rs142577691 | 8:95,188,775 | G/A | — | uncertain significance |
| rs772250943 | 8:95,188,799 | C/T | — | uncertain significance |
| rs144007824 | 8:95,188,818 | C/T | — | benign |
| rs762951650 | 8:95,189,843 | C/G | — | uncertain significance |
| rs569997084 | 8:95,189,880 | G/A | — | uncertain significance |
| rs147741721 | 8:95,201,497 | T/C | — | uncertain significance |
| rs984800087 | 8:95,206,880 | G/A | — | uncertain significance |
| rs111744793 | 8:95,212,177 | C/G | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.