SP3
Sp3 transcription factor
Summary
This gene belongs to a family of Sp1 related genes that encode transcription factors that regulate transcription by binding to consensus GC- and GT-box regulatory elements in target genes. This protein contains a zinc finger DNA-binding domain and several transactivation domains, and has been reported to function as a bifunctional transcription factor that either stimulates or represses the transcription of numerous genes. Transcript variants encoding different isoforms have been described for this gene, and one has been reported to initiate translation from a non-AUG (AUA) start codon. Additional isoforms, resulting from the use of alternate downstream translation initiation sites, have also been noted. A related pseudogene has been identified on chromosome 13. [provided by RefSeq, Feb 2010]
Known Variants42 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs185888392 | 2:174,774,677 | T/C | — | uncertain significance |
| rs1316474670 | 2:174,774,733 | A/G | — | uncertain significance |
| rs758298021 | 2:174,774,752 | C/T | — | likely benign |
| rs556988115 | 2:174,774,775 | C/T | — | uncertain significance |
| rs1453220114 | 2:174,774,789 | T/G | — | uncertain significance |
| rs775979032 | 2:174,774,827 | C/A | — | uncertain significance |
| rs7561583 | 2:174,774,873 | T/G | — | benign |
| rs2468220337 | 2:174,774,916 | A/G | — | uncertain significance |
| rs550546168 | 2:174,777,645 | T/C | — | — |
| rs1689671382 | 2:174,783,379 | C/T | — | uncertain significance |
| rs2468234161 | 2:174,783,381 | T/C | — | uncertain significance |
| rs78928738 | 2:174,783,428 | G/A | — | benign |
| rs765024914 | 2:174,783,470 | C/G | — | uncertain significance |
| rs57645908 | 2:174,801,862 | T/A | intron variant | — |
| rs557733344 | 2:174,819,655 | T/C | — | uncertain significance |
| rs16841942 | 2:174,819,674 | T/C | — | benign |
| rs2468286157 | 2:174,819,748 | C/G | — | uncertain significance |
| rs1460382278 | 2:174,819,796 | T/C | — | uncertain significance |
| rs146762315 | 2:174,819,979 | T/C | — | uncertain significance |
| rs373262391 | 2:174,820,119 | T/C | — | uncertain significance |
| rs757273473 | 2:174,820,146 | G/A | — | uncertain significance |
| rs1422619531 | 2:174,820,175 | G/C | — | uncertain significance |
| rs764354043 | 2:174,820,211 | T/C | — | uncertain significance |
| rs751664179 | 2:174,820,215 | G/C | — | uncertain significance |
| rs1401955824 | 2:174,820,329 | T/C | — | uncertain significance |
| rs573756869 | 2:174,820,360 | C/T | — | uncertain significance |
| rs756815277 | 2:174,820,497 | C/G | — | uncertain significance |
| rs780811070 | 2:174,820,542 | T/C | — | uncertain significance |
| rs761535090 | 2:174,820,609 | T/G | — | uncertain significance |
| rs374361877 | 2:174,820,635 | C/T | — | uncertain significance |
| rs1238676966 | 2:174,820,746 | A/T | — | uncertain significance |
| rs1047640 | 2:174,820,750 | C/T | — | benign |
| rs748264771 | 2:174,820,780 | C/T | — | uncertain significance |
| rs1397000056 | 2:174,820,827 | T/G | — | uncertain significance |
| rs2468288714 | 2:174,820,894 | G/C | — | uncertain significance |
| rs547616867 | 2:174,820,896 | G/A | — | uncertain significance |
| rs1385761428 | 2:174,820,897 | T/C | — | uncertain significance |
| rs891699343 | 2:174,820,924 | G/A | — | uncertain significance |
| rs199965557 | 2:174,820,926 | G/C | — | uncertain significance |
| rs1691165330 | 2:174,828,499 | G/A | — | uncertain significance |
| rs756679313 | 2:174,828,503 | C/A | — | uncertain significance |
| rs771167538 | 2:174,828,511 | C/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.