PCDHA8
protocadherin alpha 8
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 Variants67 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs111298048 | 5:140,220,910 | G/A | — | likely benign |
| rs782217721 | 5:140,220,944 | G/T | — | uncertain significance |
| rs782006214 | 5:140,220,962 | T/C | — | uncertain significance |
| rs782285371 | 5:140,221,029 | C/A | — | uncertain significance |
| rs376388555 | 5:140,221,076 | C/A | — | uncertain significance |
| rs146057065 | 5:140,221,120 | C/G | — | likely benign |
| rs2547508976 | 5:140,221,145 | A/G | — | uncertain significance |
| rs1777345485 | 5:140,221,162 | G/A | — | uncertain significance |
| rs782464159 | 5:140,221,181 | G/T | — | uncertain significance |
| rs782066837 | 5:140,221,196 | G/A | — | uncertain significance |
| rs781786941 | 5:140,221,226 | A/T | — | uncertain significance |
| rs2547510484 | 5:140,221,258 | C/T | — | uncertain significance |
| rs1554138532 | 5:140,221,361 | T/G | — | uncertain significance |
| rs142905144 | 5:140,221,402 | T/G | — | likely benign |
| rs782674385 | 5:140,221,518 | C/A | — | likely benign |
| rs1554138671 | 5:140,221,550 | C/T | — | uncertain significance |
| rs371732180 | 5:140,221,624 | C/T | — | uncertain significance |
| rs2547518292 | 5:140,221,686 | A/G | — | likely benign |
| rs201890234 | 5:140,221,763 | A/C | — | likely benign |
| rs199588480 | 5:140,221,765 | A/G | — | uncertain significance |
| rs1554138940 | 5:140,221,871 | C/T | — | uncertain significance |
| rs138800056 | 5:140,221,926 | T/C | — | likely benign |
| rs201459051 | 5:140,222,108 | T/A | — | uncertain significance |
| rs200439538 | 5:140,222,140 | G/T | — | uncertain significance |
| rs1778108515 | 5:140,222,165 | C/G | — | uncertain significance |
| rs782736515 | 5:140,222,198 | G/T | — | uncertain significance |
| rs1554139232 | 5:140,222,222 | C/T | — | uncertain significance |
| rs142047105 | 5:140,222,282 | A/T | — | uncertain significance |
| rs1554139301 | 5:140,222,296 | G/C | — | uncertain significance |
| rs1470514973 | 5:140,222,323 | C/T | — | uncertain significance |
| rs559771780 | 5:140,222,363 | A/G | — | uncertain significance |
| rs1581016277 | 5:140,222,399 | G/T | — | uncertain significance |
| rs146745311 | 5:140,222,420 | C/G | — | uncertain significance |
| rs1265674507 | 5:140,222,423 | G/A | — | uncertain significance |
| rs1778336920 | 5:140,222,438 | A/C | — | uncertain significance |
| rs1554139549 | 5:140,222,485 | G/A | — | uncertain significance |
| rs150252824 | 5:140,222,486 | A/G | — | uncertain significance |
| rs550364151 | 5:140,222,514 | C/G | — | uncertain significance |
| rs781885344 | 5:140,222,543 | G/A | — | uncertain significance |
| rs782569977 | 5:140,222,569 | G/A | — | uncertain significance |
| rs144435690 | 5:140,222,577 | C/G | — | uncertain significance |
| rs553667841 | 5:140,222,594 | C/T | — | uncertain significance |
| rs782808688 | 5:140,222,606 | A/C | — | likely benign |
| rs146495947 | 5:140,222,612 | G/C | — | uncertain significance |
| rs781820137 | 5:140,222,614 | G/A | — | uncertain significance |
| rs781959729 | 5:140,222,636 | C/T | — | likely benign |
| rs782332485 | 5:140,222,702 | C/A | — | uncertain significance |
| rs782672387 | 5:140,222,720 | C/T | — | uncertain significance |
| rs369930708 | 5:140,222,759 | C/T | — | uncertain significance |
| rs145175505 | 5:140,222,761 | C/G | — | uncertain significance |
| rs1554139855 | 5:140,222,780 | G/T | — | uncertain significance |
| rs149174279 | 5:140,222,788 | A/T | — | uncertain significance |
| rs782503175 | 5:140,222,824 | G/A | — | uncertain significance |
| rs782032247 | 5:140,222,829 | C/G | — | uncertain significance |
| rs201264675 | 5:140,222,929 | G/C | — | uncertain significance |
| rs782456260 | 5:140,222,950 | C/G | — | uncertain significance |
| rs2547546132 | 5:140,222,971 | C/A | — | uncertain significance |
| rs76866537 | 5:140,222,978 | C/A | — | uncertain significance |
| rs201868516 | 5:140,222,981 | C/A | — | uncertain significance |
| rs1554140048 | 5:140,222,999 | T/G | — | uncertain significance |
| rs142005953 | 5:140,223,056 | T/C | — | uncertain significance |
| rs782364771 | 5:140,223,074 | G/T | — | uncertain significance |
| rs782301361 | 5:140,223,103 | C/G | — | likely benign |
| rs145975691 | 5:140,223,194 | G/C | — | uncertain significance |
| rs181500612 | 5:140,223,273 | A/T | — | uncertain significance |
| rs782282230 | 5:140,223,348 | G/A | — | likely benign |
| rs251350 | 5:140,225,137 | T/C | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.