CDH18
cadherin 18
Summary
This gene encodes a type II classical cadherin from the cadherin superfamily of integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. This particular cadherin is expressed specifically in the central nervous system and is putatively involved in synaptic adhesion, axon outgrowth and guidance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]
Known Variants53 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1443002554 | 5:19,473,386 | A/C | — | uncertain significance |
| rs780161955 | 5:19,473,435 | G/A | — | uncertain significance |
| rs757108674 | 5:19,473,460 | T/C | — | uncertain significance |
| rs751281107 | 5:19,473,767 | T/G | — | likely benign |
| rs200080046 | 5:19,473,790 | T/C | — | uncertain significance |
| rs758193013 | 5:19,473,798 | C/T | — | uncertain significance |
| rs146116673 | 5:19,483,448 | G/C | — | uncertain significance |
| rs544232876 | 5:19,483,518 | C/T | — | uncertain significance |
| rs771062780 | 5:19,483,619 | C/G | — | uncertain significance |
| rs751691015 | 5:19,503,165 | C/A | — | uncertain significance |
| rs200523395 | 5:19,503,178 | G/T | — | uncertain significance |
| rs3749622 | 5:19,503,337 | T/C | intron variant | — |
| rs347702 | 5:19,511,474 | T/A | intron variant | — |
| rs427203 | 5:19,512,167 | T/C | intron variant | — |
| rs425724 | 5:19,518,050 | T/C | intron variant | — |
| rs447505 | 5:19,518,166 | C/A | — | — |
| rs752648387 | 5:19,520,794 | A/G | — | uncertain significance |
| rs753511281 | 5:19,520,818 | T/G | — | uncertain significance |
| rs370630427 | 5:19,520,819 | C/T | — | uncertain significance |
| rs142033128 | 5:19,520,861 | T/G | — | likely benign |
| rs2479155059 | 5:19,520,874 | C/A | — | uncertain significance |
| rs797311 | 5:19,527,664 | A/G | intron variant | — |
| rs141966139 | 5:19,544,046 | C/A | — | uncertain significance |
| rs776813973 | 5:19,544,112 | T/A | — | uncertain significance |
| rs17856908 | 5:19,571,703 | G/C | — | uncertain significance |
| rs761935454 | 5:19,571,740 | C/T | — | uncertain significance |
| rs78589740 | 5:19,571,783 | A/C | — | benign |
| rs747677549 | 5:19,571,860 | A/C | — | uncertain significance |
| rs148450624 | 5:19,571,871 | C/T | — | uncertain significance |
| rs17285716 | 5:19,591,174 | A/G | — | uncertain significance |
| rs755663944 | 5:19,591,243 | T/G | — | uncertain significance |
| rs201455871 | 5:19,612,602 | G/T | — | uncertain significance |
| rs368942671 | 5:19,612,654 | C/T | — | uncertain significance |
| rs147239335 | 5:19,721,517 | G/A | — | benign |
| rs2532081702 | 5:19,747,092 | T/G | — | uncertain significance |
| rs777742948 | 5:19,747,138 | T/C | — | uncertain significance |
| rs2530940619 | 5:19,838,900 | G/C | — | uncertain significance |
| rs2530946138 | 5:19,839,092 | T/C | — | uncertain significance |
| rs187975893 | 5:19,918,555 | C/T | intron variant | — |
| rs55768294 | 5:19,932,942 | A/T | — | — |
| rs6451575 | 5:19,959,057 | A/T | intron variant | — |
| rs13173892 | 5:19,982,913 | G/T | intron variant | — |
| rs189729920 | 5:20,084,228 | T/C | intron variant | — |
| rs11949611 | 5:20,135,920 | G/C | intron variant | — |
| rs142472322 | 5:20,301,624 | T/C | — | — |
| rs111913224 | 5:20,304,424 | A/G | coding sequence variant | — |
| rs10070509 | 5:20,312,639 | C/G | — | — |
| rs76930055 | 5:20,351,684 | A/C | intron variant | — |
| rs78624483 | 5:20,367,604 | T/C | intron variant | — |
| rs73058713 | 5:20,374,213 | C/T | — | — |
| rs189695540 | 5:20,454,607 | G/T | intron variant | — |
| rs369563433 | 5:20,473,914 | A/G | — | — |
| rs555991893 | 5:20,505,127 | C/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.