PCDHA9
protocadherin alpha 9
Summary
This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]
Known Variants120 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1781577604 | 5:140,228,111 | G/T | — | uncertain significance |
| rs251353 | 5:140,228,164 | A/C | — | likely benign |
| rs147906609 | 5:140,228,194 | A/G | — | likely benign |
| rs141640003 | 5:140,228,197 | C/T | — | likely benign |
| rs147099629 | 5:140,228,198 | G/A | — | likely benign |
| rs138258410 | 5:140,228,203 | C/T | — | likely benign |
| rs149227021 | 5:140,228,205 | G/A | — | uncertain significance |
| rs186780543 | 5:140,228,208 | C/A | — | uncertain significance |
| rs781928230 | 5:140,228,243 | G/C | — | uncertain significance |
| rs1173870910 | 5:140,228,252 | G/C | — | uncertain significance |
| rs781938203 | 5:140,228,265 | G/T | — | uncertain significance |
| rs56926451 | 5:140,228,272 | C/G | — | likely benign |
| rs781905925 | 5:140,228,291 | C/T | — | uncertain significance |
| rs781786065 | 5:140,228,358 | A/T | — | uncertain significance |
| rs146253628 | 5:140,228,366 | T/G | — | likely benign |
| rs1317761194 | 5:140,228,379 | C/T | — | uncertain significance |
| rs17844322 | 5:140,228,410 | A/G | — | likely benign |
| rs17844323 | 5:140,228,413 | C/A | — | likely benign |
| rs369903073 | 5:140,228,417 | C/G | — | uncertain significance |
| rs373912554 | 5:140,228,446 | G/A | — | likely benign |
| rs782433270 | 5:140,228,464 | C/G | — | uncertain significance |
| rs364063 | 5:140,228,473 | A/G | — | likely benign |
| rs1223339539 | 5:140,228,484 | C/A | — | uncertain significance |
| rs781801890 | 5:140,228,518 | G/A | — | likely benign |
| rs539051446 | 5:140,228,525 | G/A | — | uncertain significance |
| rs201305186 | 5:140,228,532 | G/T | — | uncertain significance |
| rs781909313 | 5:140,228,577 | C/T | — | uncertain significance |
| rs2040749628 | 5:140,228,613 | T/G | — | uncertain significance |
| rs1554142783 | 5:140,228,748 | C/T | — | uncertain significance |
| rs1274715970 | 5:140,228,780 | G/A | — | uncertain significance |
| rs782590118 | 5:140,228,870 | C/G | — | uncertain significance |
| rs375475284 | 5:140,228,896 | C/T | — | likely benign |
| rs1554142882 | 5:140,228,907 | A/C | — | uncertain significance |
| rs781850609 | 5:140,229,024 | C/A | — | uncertain significance |
| rs201945218 | 5:140,229,029 | A/C | — | uncertain significance |
| rs1554142981 | 5:140,229,081 | G/A | — | uncertain significance |
| rs251354 | 5:140,229,086 | C/G | — | likely benign |
| rs568853380 | 5:140,229,132 | C/T | — | likely benign |
| rs772302816 | 5:140,229,155 | G/C | — | uncertain significance |
| rs781864426 | 5:140,229,174 | T/C | — | uncertain significance |
| rs781902114 | 5:140,229,182 | G/T | — | uncertain significance |
| rs140138948 | 5:140,229,235 | T/G | — | benign |
| rs138948867 | 5:140,229,259 | C/T | — | likely benign |
| rs371936538 | 5:140,229,278 | A/C | — | uncertain significance |
| rs2547635305 | 5:140,229,285 | A/G | — | uncertain significance |
| rs782768269 | 5:140,229,297 | C/T | — | uncertain significance |
| rs141495063 | 5:140,229,302 | G/C | — | uncertain significance |
| rs7722927 | 5:140,229,316 | T/C | — | benign |
| rs1554143245 | 5:140,229,328 | G/C | — | uncertain significance |
| rs251355 | 5:140,229,368 | C/G | — | likely benign |
| rs781829307 | 5:140,229,369 | G/A | — | uncertain significance |
| rs566372258 | 5:140,229,382 | A/G | — | likely benign |
| rs553750365 | 5:140,229,400 | G/C | — | likely benign |
| rs145333813 | 5:140,229,417 | C/G | — | uncertain significance |
| rs782653916 | 5:140,229,422 | G/A | — | uncertain significance |
| rs369746155 | 5:140,229,428 | G/A | — | uncertain significance |
| rs148732691 | 5:140,229,436 | A/T | — | benign |
| rs1451585591 | 5:140,229,445 | C/T | — | likely benign |
| rs782733346 | 5:140,229,450 | A/G | — | uncertain significance |
| rs781877204 | 5:140,229,452 | T/C | — | likely benign |
| rs558218817 | 5:140,229,463 | G/A | — | likely benign |
| rs151299460 | 5:140,229,499 | C/T | — | likely benign |
| rs544460228 | 5:140,229,518 | C/T | — | uncertain significance |
| rs2547642220 | 5:140,229,524 | G/T | — | uncertain significance |
| rs251356 | 5:140,229,526 | T/G | — | likely benign |
| rs1364355040 | 5:140,229,529 | C/A | — | uncertain significance |
| rs781991729 | 5:140,229,557 | T/C | — | uncertain significance |
| rs782481269 | 5:140,229,570 | G/T | — | uncertain significance |
| rs782585786 | 5:140,229,575 | T/G | — | likely benign |
| rs59056023 | 5:140,229,581 | G/C | — | benign |
| rs782017581 | 5:140,229,588 | C/T | — | uncertain significance |
| rs879971150 | 5:140,229,591 | T/A | — | uncertain significance |
| rs1415063137 | 5:140,229,597 | G/A | — | uncertain significance |
| rs533987603 | 5:140,229,623 | G/A | — | uncertain significance |
| rs139719626 | 5:140,229,680 | C/T | — | likely benign |
| rs782550369 | 5:140,229,688 | C/A | — | uncertain significance |
| rs577800925 | 5:140,229,694 | C/G | — | likely benign |
| rs545192815 | 5:140,229,695 | G/A | — | uncertain significance |
| rs527399065 | 5:140,229,708 | C/G | — | uncertain significance |
| rs782709396 | 5:140,229,729 | C/T | — | uncertain significance |
| rs17844333 | 5:140,229,794 | G/C | — | likely benign |
| rs767462600 | 5:140,229,795 | G/A | — | uncertain significance |
| rs1411639882 | 5:140,229,797 | A/C | — | uncertain significance |
| rs569533386 | 5:140,229,814 | C/G | — | uncertain significance |
| rs371305325 | 5:140,229,845 | G/T | — | uncertain significance |
| rs1554144146 | 5:140,229,878 | G/A | — | uncertain significance |
| rs782475985 | 5:140,229,900 | T/G | — | uncertain significance |
| rs139717033 | 5:140,229,914 | C/A | — | likely benign |
| rs58792000 | 5:140,229,925 | G/C | — | likely benign |
| rs146727140 | 5:140,229,926 | G/T | — | uncertain significance |
| rs782119827 | 5:140,229,931 | C/A | — | uncertain significance |
| rs373454378 | 5:140,229,987 | C/T | — | likely benign |
| rs369126896 | 5:140,229,995 | G/C | — | uncertain significance |
| rs782379039 | 5:140,230,001 | G/A | — | uncertain significance |
| rs199785183 | 5:140,230,017 | G/T | — | uncertain significance |
| rs782143675 | 5:140,230,095 | G/C | — | uncertain significance |
| rs115218749 | 5:140,230,122 | G/A | — | likely benign |
| rs1554144490 | 5:140,230,126 | G/T | — | likely benign |
| rs112046100 | 5:140,230,137 | C/A | — | likely benign |
| rs781889747 | 5:140,230,164 | A/G | — | uncertain significance |
Showing 100 of 120 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.