PCDHA3
protocadherin alpha 3
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 Variants71 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs782060470 | 5:140,180,804 | G/A | — | uncertain significance |
| rs782473874 | 5:140,180,814 | C/G | — | uncertain significance |
| rs2547242663 | 5:140,180,871 | A/G | — | uncertain significance |
| rs7731327 | 5:140,180,964 | C/A | — | benign |
| rs147415938 | 5:140,180,967 | G/T | — | uncertain significance |
| rs201362111 | 5:140,180,996 | G/C | missense variant | — |
| rs138150756 | 5:140,181,076 | G/A | — | likely benign |
| rs539262034 | 5:140,181,085 | G/C | — | uncertain significance |
| rs251382 | 5:140,181,094 | C/T | — | benign |
| rs1762730648 | 5:140,181,126 | A/T | — | uncertain significance |
| rs782642948 | 5:140,181,138 | T/G | — | uncertain significance |
| rs61730634 | 5:140,181,193 | A/G | — | benign |
| rs199857246 | 5:140,181,356 | C/G | — | uncertain significance |
| rs564667115 | 5:140,181,357 | T/C | — | uncertain significance |
| rs782302106 | 5:140,181,365 | G/C | — | uncertain significance |
| rs782120718 | 5:140,181,387 | G/T | — | uncertain significance |
| rs781833245 | 5:140,181,430 | T/A | — | uncertain significance |
| rs782466455 | 5:140,181,434 | G/A | — | uncertain significance |
| rs61735497 | 5:140,181,484 | T/C | — | likely benign |
| rs782295263 | 5:140,181,534 | T/C | — | uncertain significance |
| rs782630700 | 5:140,181,564 | T/C | — | likely benign |
| rs782305894 | 5:140,181,572 | G/T | — | uncertain significance |
| rs2547247301 | 5:140,181,584 | G/T | — | uncertain significance |
| rs781990436 | 5:140,181,630 | C/T | — | uncertain significance |
| rs3733709 | 5:140,181,648 | C/T | — | benign |
| rs200090365 | 5:140,181,733 | A/C | — | uncertain significance |
| rs3733708 | 5:140,181,734 | A/G | — | benign |
| rs782724131 | 5:140,181,750 | C/T | — | uncertain significance |
| rs138143542 | 5:140,181,774 | C/T | — | uncertain significance |
| rs782325970 | 5:140,181,782 | T/A | — | uncertain significance |
| rs537450462 | 5:140,181,841 | A/G | — | likely benign |
| rs34281383 | 5:140,181,844 | A/G | — | benign |
| rs3733707 | 5:140,181,892 | T/C | — | benign |
| rs7701755 | 5:140,182,101 | G/T | — | benign |
| rs114741177 | 5:140,182,120 | C/T | — | likely benign |
| rs1762953312 | 5:140,182,160 | T/C | — | uncertain significance |
| rs781885871 | 5:140,182,161 | A/G | — | uncertain significance |
| rs2547250096 | 5:140,182,163 | A/T | — | uncertain significance |
| rs782385485 | 5:140,182,225 | C/G | — | uncertain significance |
| rs151289883 | 5:140,182,228 | G/T | — | likely benign |
| rs373853046 | 5:140,182,260 | C/G | — | uncertain significance |
| rs375690529 | 5:140,182,377 | A/G | — | uncertain significance |
| rs991420459 | 5:140,182,401 | C/G | — | uncertain significance |
| rs141385563 | 5:140,182,471 | G/A | — | likely benign |
| rs782648396 | 5:140,182,490 | G/A | — | uncertain significance |
| rs782417048 | 5:140,182,508 | G/T | — | uncertain significance |
| rs1554122453 | 5:140,182,517 | G/A | — | uncertain significance |
| rs587776956 | 5:140,182,532 | T/C | — | uncertain significance |
| rs1763074901 | 5:140,182,545 | G/A | — | uncertain significance |
| rs1554122539 | 5:140,182,623 | G/T | — | uncertain significance |
| rs376717092 | 5:140,182,635 | C/A | — | uncertain significance |
| rs782050127 | 5:140,182,667 | G/A | — | uncertain significance |
| rs139788338 | 5:140,182,685 | C/G | — | uncertain significance |
| rs386352345 | 5:140,182,712 | C/T | — | uncertain significance |
| rs1554122591 | 5:140,182,713 | G/A | — | uncertain significance |
| rs149374718 | 5:140,182,722 | T/C | — | likely benign |
| rs17844261 | 5:140,182,767 | C/T | — | benign |
| rs148554584 | 5:140,182,808 | C/T | — | uncertain significance |
| rs34395025 | 5:140,182,819 | T/G | — | benign |
| rs149770195 | 5:140,182,840 | C/T | — | likely benign |
| rs145031481 | 5:140,182,890 | C/A | — | uncertain significance |
| rs782516303 | 5:140,182,899 | C/T | — | uncertain significance |
| rs1190601909 | 5:140,182,907 | A/C | — | uncertain significance |
| rs1198183048 | 5:140,182,933 | A/G | — | likely benign |
| rs1763177985 | 5:140,182,934 | T/C | — | uncertain significance |
| rs547051375 | 5:140,182,967 | G/A | — | uncertain significance |
| rs2240694 | 5:140,183,058 | G/A | — | benign |
| rs140331962 | 5:140,183,076 | C/T | — | uncertain significance |
| rs376686641 | 5:140,183,175 | A/C | — | uncertain significance |
| rs17844265 | 5:140,183,237 | A/G | — | benign |
| rs200585286 | 5:140,389,339 | C/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.