PIAS3
protein inhibitor of activated STAT 3
Summary
This gene encodes a member of the PIAS [protein inhibitor of activated STAT (signal transducer and activator of transcription)] family of transcriptional modulators. The protein functions as a SUMO (small ubiquitin-like modifier)-E3 ligase which catalyzes the covalent attachment of a SUMO protein to specific target substrates. It directly binds to several transcription factors and either blocks or enhances their activity. Alternatively spliced transcript variants of this gene have been identified, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
Known Variants35 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs75248808 | 1:145,574,636 | C/A | upstream gene variant | — |
| rs2526328568 | 1:145,578,098 | G/C | — | uncertain significance |
| rs782404985 | 1:145,578,120 | G/A | — | uncertain significance |
| rs143409313 | 1:145,578,142 | C/T | — | likely benign |
| rs782266368 | 1:145,578,380 | A/G | — | uncertain significance |
| rs1570778920 | 1:145,578,693 | C/T | — | uncertain significance |
| rs1553735615 | 1:145,578,708 | A/G | — | uncertain significance |
| rs1210935122 | 1:145,578,966 | G/A | — | uncertain significance |
| rs112106951 | 1:145,578,974 | T/C | — | benign |
| rs140039049 | 1:145,579,331 | C/T | — | uncertain significance |
| rs782118155 | 1:145,580,218 | G/A | — | uncertain significance |
| rs954462042 | 1:145,580,252 | C/T | — | uncertain significance |
| rs2526317983 | 1:145,580,255 | C/T | — | uncertain significance |
| rs1182391267 | 1:145,580,290 | A/G | — | uncertain significance |
| rs140531029 | 1:145,580,291 | T/C | — | uncertain significance |
| rs114124194 | 1:145,581,455 | C/T | — | likely benign |
| rs149774734 | 1:145,583,991 | A/G | — | uncertain significance |
| rs2526300170 | 1:145,584,012 | T/C | — | uncertain significance |
| rs376991349 | 1:145,584,168 | A/T | — | uncertain significance |
| rs1255161755 | 1:145,584,182 | G/A | — | uncertain significance |
| rs781828952 | 1:145,584,184 | C/G | — | likely benign |
| rs1652928812 | 1:145,584,204 | T/C | — | uncertain significance |
| rs1287929528 | 1:145,584,498 | C/T | — | uncertain significance |
| rs782469868 | 1:145,584,791 | C/T | — | likely benign |
| rs1652877818 | 1:145,585,360 | A/G | — | uncertain significance |
| rs782407462 | 1:145,585,401 | C/G | — | uncertain significance |
| rs200360416 | 1:145,585,453 | T/C | — | uncertain significance |
| rs147282600 | 1:145,585,462 | C/T | — | uncertain significance |
| rs781998989 | 1:145,585,492 | C/T | — | uncertain significance |
| rs144823769 | 1:145,585,509 | C/T | — | uncertain significance |
| rs112103191 | 1:145,585,518 | A/C | — | benign |
| rs1553733571 | 1:145,585,531 | C/G | — | uncertain significance |
| rs200547846 | 1:145,585,534 | G/C | — | uncertain significance |
| rs782819366 | 1:145,585,597 | G/A | — | uncertain significance |
| rs1248832000 | 1:145,585,605 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.