GTF2I
general transcription factor IIi
Summary
This gene encodes a phosphoprotein containing six characteristic repeat motifs. The encoded protein binds to the initiator element (Inr) and E-box element in promoters and functions as a regulator of transcription. This locus, along with several other neighboring genes, is deleted in Williams-Beuren syndrome. There are many closely related genes and pseudogenes for this gene on chromosome 7. This gene also has pseudogenes on chromosomes 9, 13, and 21. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2013]
Known Variants28 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs73137144 | 7:74,073,590 | A/G | regulatory region variant | — |
| rs68008267 | 7:74,087,465 | C/T | intron variant | — |
| rs35473599 | 7:74,088,893 | G/A | intron variant | — |
| rs56383938 | 7:74,097,622 | A/G | intron variant | — |
| rs79171842 | 7:74,098,622 | A/T | downstream gene variant | — |
| rs2527367 | 7:74,099,138 | C/T | downstream gene variant | — |
| rs150300171 | 7:74,102,895 | A/C | downstream gene variant | — |
| rs143931854 | 7:74,105,424 | A/G | — | likely benign |
| rs35275911 | 7:74,108,249 | G/C | downstream gene variant | — |
| rs143176121 | 7:74,108,439 | T/C | downstream gene variant | — |
| rs2465936 | 7:74,112,281 | G/A | — | — |
| rs150259949 | 7:74,113,408 | A/G | — | uncertain significance |
| rs1378271459 | 7:74,114,603 | G/A | — | uncertain significance |
| rs782228824 | 7:74,114,639 | T/C | — | uncertain significance |
| rs373330111 | 7:74,119,498 | G/T | — | uncertain significance |
| rs886875869 | 7:74,119,543 | G/A | — | uncertain significance |
| rs7795281 | 7:74,122,854 | A/G | intron variant | — |
| rs7795282 | 7:74,122,857 | A/G | intron variant | — |
| rs117026326 | 7:74,126,034 | C/T | intron variant | — |
| rs2535609752 | 7:74,148,321 | G/C | — | uncertain significance |
| rs141809495 | 7:74,152,424 | C/G | — | likely benign |
| rs782615736 | 7:74,152,434 | C/T | — | uncertain significance |
| rs1554408837 | 7:74,159,157 | C/T | — | uncertain significance |
| rs1554408861 | 7:74,159,226 | C/T | — | uncertain significance |
| rs1554408879 | 7:74,159,270 | G/A | — | uncertain significance |
| rs1262774852 | 7:74,162,395 | G/T | — | likely benign |
| rs782360843 | 7:74,166,420 | A/G | — | likely benign |
| rs782012327 | 7:74,167,501 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.