CDH12
cadherin 12
Summary
This gene encodes a type II classical cadherin of the cadherin superfamily. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature cadherin protein. These integral membrane proteins mediate calcium-dependent cell-cell adhesion and 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 histidine-alanine-valine (HAV) cell adhesion recognition sequence specific to type I cadherins. This particular cadherin appears to be expressed specifically in the brain and its temporal pattern of expression would be consistent with a role during a critical period of neuronal development, perhaps specifically during synaptogenesis. [provided by RefSeq, Nov 2015]
Known Variants74 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1374347367 | 5:21,751,875 | C/T | — | uncertain significance |
| rs201750582 | 5:21,751,891 | G/A | — | likely benign |
| rs1291430724 | 5:21,751,947 | C/A | — | uncertain significance |
| rs147548175 | 5:21,751,961 | A/G | — | likely benign |
| rs776845591 | 5:21,751,971 | T/C | — | uncertain significance |
| rs138634556 | 5:21,752,008 | G/A | — | benign |
| rs372810394 | 5:21,752,027 | G/A | — | uncertain significance |
| rs745452087 | 5:21,752,043 | C/T | — | uncertain significance |
| rs777233177 | 5:21,752,052 | C/T | — | uncertain significance |
| rs1271162911 | 5:21,752,060 | T/G | — | uncertain significance |
| rs752645141 | 5:21,752,112 | T/C | — | likely benign |
| rs1380331366 | 5:21,752,129 | G/C | — | uncertain significance |
| rs750042421 | 5:21,752,250 | C/T | — | uncertain significance |
| rs143993546 | 5:21,752,255 | T/A | — | uncertain significance |
| rs139945013 | 5:21,755,737 | C/T | — | likely benign |
| rs748295992 | 5:21,755,738 | G/A | — | uncertain significance |
| rs2149863352 | 5:21,755,741 | C/T | — | uncertain significance |
| rs544099315 | 5:21,755,791 | G/A | — | likely benign |
| rs377360148 | 5:21,755,822 | C/T | — | uncertain significance |
| rs370847793 | 5:21,755,830 | C/T | — | uncertain significance |
| rs201811162 | 5:21,755,941 | C/T | — | likely benign |
| rs111616437 | 5:21,760,704 | A/G | — | benign |
| rs143459013 | 5:21,760,715 | A/G | — | likely benign |
| rs150229492 | 5:21,765,113 | C/T | — | uncertain significance |
| rs376418839 | 5:21,765,129 | C/T | — | likely benign |
| rs944271768 | 5:21,765,158 | C/T | — | uncertain significance |
| rs12108814 | 5:21,765,178 | A/G | — | benign |
| rs4701252 | 5:21,779,154 | T/C | intron variant | — |
| rs147110131 | 5:21,783,499 | T/C | — | uncertain significance |
| rs200459087 | 5:21,783,559 | A/G | — | uncertain significance |
| rs758683736 | 5:21,802,353 | A/C | — | likely benign |
| rs769837272 | 5:21,802,372 | G/A | — | uncertain significance |
| rs770539702 | 5:21,802,391 | G/T | — | uncertain significance |
| rs2477925959 | 5:21,802,410 | G/C | — | uncertain significance |
| rs112632478 | 5:21,802,485 | C/A | — | benign |
| rs576556751 | 5:21,802,529 | G/A | — | uncertain significance |
| rs10063754 | 5:21,802,532 | G/A | — | benign |
| rs369167882 | 5:21,817,079 | T/C | — | uncertain significance |
| rs2478043786 | 5:21,817,092 | C/A | — | uncertain significance |
| rs377660503 | 5:21,817,098 | C/T | — | uncertain significance |
| rs2478044860 | 5:21,817,137 | T/C | — | uncertain significance |
| rs747709119 | 5:21,817,209 | G/C | — | uncertain significance |
| rs941527022 | 5:21,817,229 | A/G | — | uncertain significance |
| rs140958106 | 5:21,830,084 | G/T | intron variant | — |
| rs76592602 | 5:21,842,304 | G/A | — | benign |
| rs1749909466 | 5:21,842,336 | C/A | — | uncertain significance |
| rs563179062 | 5:21,842,418 | C/T | — | likely benign |
| rs112146213 | 5:21,854,787 | G/C | — | benign |
| rs1579840339 | 5:21,854,805 | A/T | — | likely benign |
| rs1750661772 | 5:21,854,827 | T/A | — | uncertain significance |
| rs774211397 | 5:21,854,845 | T/C | — | uncertain significance |
| rs545844887 | 5:21,854,856 | C/T | — | likely benign |
| rs182677095 | 5:21,968,087 | C/T | intron variant | — |
| rs145189313 | 5:21,975,242 | C/G | — | uncertain significance |
| rs1194139884 | 5:21,975,333 | A/C | — | likely benign |
| rs1174742556 | 5:21,975,350 | T/C | — | uncertain significance |
| rs763239573 | 5:21,975,354 | G/T | — | uncertain significance |
| rs866835851 | 5:21,975,374 | C/T | — | uncertain significance |
| rs371214314 | 5:21,975,399 | C/T | — | benign |
| rs142320441 | 5:22,078,606 | T/C | — | benign |
| rs775647552 | 5:22,078,649 | C/T | — | uncertain significance |
| rs147080212 | 5:22,078,650 | G/A | — | uncertain significance |
| rs117878510 | 5:22,078,686 | C/G | — | benign |
| rs2479772773 | 5:22,078,691 | G/C | — | uncertain significance |
| rs2479773326 | 5:22,078,734 | C/G | — | uncertain significance |
| rs762964008 | 5:22,078,771 | G/C | — | uncertain significance |
| rs181492893 | 5:22,151,850 | A/G | intron variant | — |
| rs72742016 | 5:22,160,057 | T/A | intron variant | — |
| rs71578761 | 5:22,162,264 | G/C | — | — |
| rs73062553 | 5:22,223,531 | C/T | intron variant | — |
| rs35376653 | 5:22,262,805 | C/T | — | — |
| rs72748738 | 5:22,764,611 | T/A | intron variant | — |
| rs780179 | 5:22,812,264 | T/G | — | — |
| rs1075046 | 5:22,852,984 | C/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.