CPNE1
copine 1
Summary
Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene encodes a calcium-dependent protein that also contains two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. However, the encoded protein does not contain a predicted signal sequence or transmembrane domains. This protein has a broad tissue distribution and it may function in membrane trafficking. This gene and the gene for RNA binding motif protein 12 overlap at map location 20q11.21. Alternate splicing results in multiple transcript variants encoding different proteins. [provided by RefSeq, Aug 2008]
Known Variants40 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2515286160 | 20:34,214,219 | G/A | — | uncertain significance |
| rs146046800 | 20:34,214,227 | C/A | — | uncertain significance |
| rs140090014 | 20:34,214,250 | C/A | — | likely benign |
| rs752467501 | 20:34,214,634 | A/G | — | uncertain significance |
| rs200157036 | 20:34,214,685 | G/A | — | uncertain significance |
| rs748150919 | 20:34,214,724 | T/A | — | uncertain significance |
| rs148978209 | 20:34,215,287 | C/T | — | uncertain significance |
| rs201918169 | 20:34,215,288 | G/A | — | uncertain significance |
| rs772303395 | 20:34,215,309 | G/A | — | uncertain significance |
| rs6142422 | 20:34,216,058 | C/G | — | — |
| rs6058283 | 20:34,216,276 | A/G | downstream gene variant | — |
| rs6060518 | 20:34,217,309 | A/C | downstream gene variant | — |
| rs773962387 | 20:34,218,402 | T/G | — | uncertain significance |
| rs12481228 | 20:34,218,673 | G/C | missense variant | — |
| rs146065192 | 20:34,218,832 | T/C | — | uncertain significance |
| rs751519915 | 20:34,219,191 | C/T | — | likely benign |
| rs144007734 | 20:34,219,463 | T/C | — | uncertain significance |
| rs774139541 | 20:34,219,500 | C/T | — | uncertain significance |
| rs147778789 | 20:34,219,620 | G/A | missense variant | — |
| rs974899564 | 20:34,219,665 | C/T | — | uncertain significance |
| rs1490690164 | 20:34,219,904 | T/C | — | uncertain significance |
| rs375741618 | 20:34,219,907 | C/T | — | uncertain significance |
| rs78084033 | 20:34,219,990 | A/C | downstream gene variant | — |
| rs10211771 | 20:34,219,994 | T/C | downstream gene variant | — |
| rs777585822 | 20:34,220,128 | C/T | — | uncertain significance |
| rs142583527 | 20:34,220,129 | G/A | — | uncertain significance |
| rs140750759 | 20:34,220,247 | G/A | — | uncertain significance |
| rs2515315500 | 20:34,220,280 | G/T | — | uncertain significance |
| rs2032213782 | 20:34,220,307 | T/C | — | uncertain significance |
| rs554913918 | 20:34,220,461 | C/T | — | uncertain significance |
| rs574748992 | 20:34,220,462 | C/G | — | uncertain significance |
| rs772964150 | 20:34,220,531 | T/C | — | uncertain significance |
| rs201813494 | 20:34,220,540 | T/C | — | uncertain significance |
| rs758776816 | 20:34,220,564 | G/C | — | uncertain significance |
| rs6060524 | 20:34,221,155 | G/A | — | — |
| rs12480408 | 20:34,234,800 | A/G | downstream gene variant | — |
| rs781720548 | 20:34,240,868 | C/A | stop gained | pathogenic |
| rs28634878 | 20:34,246,724 | A/C | — | — |
| rs11698796 | 20:34,248,134 | T/C | intron variant | — |
| rs113203744 | 20:34,253,656 | C/G | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.