PDCD6
programmed cell death 6
Summary
This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. Calcium binding is important for homodimerization and for conformational changes required for binding to other protein partners. This gene product participates in T cell receptor-, Fas-, and glucocorticoid-induced programmed cell death. In mice deficient for this gene product, however, apoptosis was not blocked suggesting this gene product is functionally redundant. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is also located on the short arm of chromosome 5. [provided by RefSeq, May 2012]
Known Variants27 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs761773860 | 5:271,903 | C/T | — | uncertain significance |
| rs62345187 | 5:272,057 | T/G | — | — |
| rs145036962 | 5:272,829 | C/T | — | likely benign |
| rs537688122 | 5:272,856 | A/G | synonymous variant | — |
| rs549592074 | 5:272,863 | G/C | missense variant | — |
| rs571370281 | 5:272,870 | A/G | missense variant | — |
| rs765365727 | 5:272,873 | A/G | — | uncertain significance |
| rs2477561284 | 5:272,878 | C/T | — | uncertain significance |
| rs199941631 | 5:272,886 | C/G | — | uncertain significance |
| rs62345188 | 5:273,143 | A/G | — | — |
| rs28463544 | 5:285,479 | G/A | downstream gene variant | — |
| rs4957014 | 5:288,014 | T/G | downstream gene variant | — |
| rs532447670 | 5:298,925 | T/C | — | — |
| rs571086880 | 5:299,252 | C/A | — | — |
| rs575791160 | 5:299,981 | T/A | — | — |
| rs62329992 | 5:301,699 | C/T | — | — |
| rs11951625 | 5:302,586 | C/T | upstream gene variant | — |
| rs1356495429 | 5:304,295 | C/A | — | uncertain significance |
| rs758565797 | 5:306,806 | C/T | — | uncertain significance |
| rs761977523 | 5:306,809 | A/G | — | uncertain significance |
| rs545985005 | 5:306,810 | C/T | — | uncertain significance |
| rs191142207 | 5:306,838 | C/G | — | uncertain significance |
| rs3756712 | 5:309,096 | A/T | — | — |
| rs1416762592 | 5:311,413 | C/T | — | uncertain significance |
| rs772846590 | 5:311,447 | G/A | — | uncertain significance |
| rs1355076299 | 5:311,456 | A/G | — | uncertain significance |
| rs909500893 | 5:314,544 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.