PDCD5
programmed cell death 5
Summary
This gene encodes a protein that is upregulated during apoptosis where it translocates rapidly from the cytoplasm to the nucleus. The encoded protein may be an important regulator of K(lysine) acetyltransferase 5 (a protein involved in transcription, DNA damage response and cell cycle control) by inhibiting its proteasome-dependent degradation. Pseudogenes have been identified on chromosomes 5 and 12 [provided by RefSeq, Dec 2010]
Known Variants10 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs10405535 | 19:33,072,085 | A/T | — | — |
| rs75015964 | 19:33,072,213 | G/A | — | benign |
| rs12461589 | 19:33,072,768 | C/T | regulatory region variant | — |
| rs200484934 | 19:33,073,114 | C/T | — | uncertain significance |
| rs76303011 | 19:33,075,849 | G/A | — | benign |
| rs147553739 | 19:33,075,908 | C/T | — | uncertain significance |
| rs201933073 | 19:33,075,909 | G/A | — | uncertain significance |
| rs1971471007 | 19:33,076,776 | T/G | — | uncertain significance |
| rs2513160629 | 19:33,077,782 | A/G | — | uncertain significance |
| rs935464619 | 19:33,078,178 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.