SPDEF
SAM pointed domain containing ETS transcription factor
Summary
The protein encoded by this gene belongs to the ETS family of transcription factors. It is highly expressed in the prostate epithelial cells, and functions as an androgen-independent transactivator of prostate-specific antigen (PSA) promoter. Higher expression of this protein has also been reported in brain, breast, lung and ovarian tumors, compared to the corresponding normal tissues, and it shows better tumor-association than other cancer-associated molecules, making it a more suitable target for developing specific cancer therapies. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
Known Variants27 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1767739794 | 6:34,506,140 | G/T | — | uncertain significance |
| rs768966626 | 6:34,506,153 | G/A | — | likely benign |
| rs374579377 | 6:34,506,170 | G/A | — | uncertain significance |
| rs148079586 | 6:34,506,194 | G/A | — | uncertain significance |
| rs200970692 | 6:34,507,077 | A/T | — | uncertain significance |
| rs377061561 | 6:34,507,300 | T/C | — | uncertain significance |
| rs776623142 | 6:34,507,310 | C/T | — | uncertain significance |
| rs1466469556 | 6:34,507,315 | G/A | — | uncertain significance |
| rs548761944 | 6:34,507,322 | G/A | — | uncertain significance |
| rs746647174 | 6:34,508,814 | C/A | — | uncertain significance |
| rs1209227466 | 6:34,508,835 | G/A | — | uncertain significance |
| rs539362144 | 6:34,508,887 | G/C | — | uncertain significance |
| rs2233643 | 6:34,508,891 | C/G | — | benign |
| rs11758529 | 6:34,510,838 | G/A | intron variant | — |
| rs151017071 | 6:34,511,806 | T/C | — | uncertain significance |
| rs375958045 | 6:34,511,905 | C/T | — | uncertain significance |
| rs372475042 | 6:34,511,952 | G/A | — | uncertain significance |
| rs200492139 | 6:34,511,986 | G/A | — | uncertain significance |
| rs148387831 | 6:34,512,004 | C/A | — | uncertain significance |
| rs775197790 | 6:34,512,019 | T/C | — | uncertain significance |
| rs56262607 | 6:34,512,089 | G/A | — | benign |
| rs2533230964 | 6:34,512,099 | G/T | — | uncertain significance |
| rs757318083 | 6:34,512,135 | G/A | — | uncertain significance |
| rs370099797 | 6:34,512,162 | G/A | — | likely benign |
| rs143433433 | 6:34,512,168 | G/A | — | uncertain significance |
| rs200724717 | 6:34,512,202 | C/T | — | uncertain significance |
| rs74822633 | 6:34,523,409 | G/A | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.