CDCA4
cell division cycle associated 4
Summary
This gene encodes a protein that belongs to the E2F family of transcription factors. This protein regulates E2F-dependent transcriptional activation and cell proliferation, mainly through the E2F/retinoblastoma protein pathway. It also functions in the regulation of JUN oncogene expression. This protein shows distinctive nuclear-mitotic apparatus distribution, it is involved in spindle organization from prometaphase, and may also play a role as a midzone factor involved in chromosome segregation or cytokinesis. Two alternatively spliced transcript variants encoding the same protein have been noted for this gene. Two pseudogenes have also been identified on chromosome 1. [provided by RefSeq, May 2014]
Known Variants20 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs150451694 | 14:105,477,582 | C/G | — | uncertain significance |
| rs1191070808 | 14:105,477,635 | T/C | — | uncertain significance |
| rs1370468163 | 14:105,477,641 | C/T | — | uncertain significance |
| rs745698339 | 14:105,477,645 | C/T | — | uncertain significance |
| rs533359730 | 14:105,477,834 | C/G | — | uncertain significance |
| rs139326290 | 14:105,477,863 | G/A | — | uncertain significance |
| rs2542703051 | 14:105,477,933 | G/A | — | uncertain significance |
| rs754865160 | 14:105,477,959 | C/T | — | uncertain significance |
| rs2542703203 | 14:105,477,969 | T/A | — | uncertain significance |
| rs147965891 | 14:105,478,002 | G/A | — | uncertain significance |
| rs752564841 | 14:105,478,028 | C/A | — | uncertain significance |
| rs762874162 | 14:105,478,029 | G/A | — | uncertain significance |
| rs201452465 | 14:105,478,034 | G/A | — | uncertain significance |
| rs375561549 | 14:105,478,046 | G/A | — | uncertain significance |
| rs200800804 | 14:105,478,149 | T/A | — | uncertain significance |
| rs1472873147 | 14:105,478,158 | G/C | — | uncertain significance |
| rs1163960866 | 14:105,478,162 | C/G | — | uncertain significance |
| rs145318953 | 14:105,478,166 | C/T | — | uncertain significance |
| rs768754038 | 14:105,478,200 | C/T | — | uncertain significance |
| rs4075085 | 14:105,479,541 | T/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.