TAF4
TATA-box binding protein associated factor 4
Summary
Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the larger subunits of TFIID that has been shown to potentiate transcriptional activation by retinoic acid, thyroid hormone and vitamin D3 receptors. In addition, this subunit interacts with the transcription factor CREB, which has a glutamine-rich activation domain, and binds to other proteins containing glutamine-rich regions. Aberrant binding to this subunit by proteins with expanded polyglutamine regions has been suggested as one of the pathogenetic mechanisms underlying a group of neurodegenerative disorders referred to as polyglutamine diseases. [provided by RefSeq, Jul 2008]
Known Variants98 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1244974753 | 20:60,551,258 | T/C | — | uncertain significance |
| rs2515958470 | 20:60,551,342 | G/A | — | uncertain significance |
| rs150380471 | 20:60,551,383 | G/A | — | likely benign |
| rs112468262 | 20:60,552,129 | A/G | intron variant | — |
| rs6142906 | 20:60,552,554 | G/A | — | — |
| rs12373885 | 20:60,556,393 | A/C | regulatory region variant | — |
| rs12624770 | 20:60,558,635 | T/C | intron variant | — |
| rs6089584 | 20:60,564,086 | G/T | — | — |
| rs2515980140 | 20:60,574,107 | G/A | — | pathogenic |
| rs770160275 | 20:60,574,158 | C/T | — | uncertain significance |
| rs2515981533 | 20:60,575,248 | G/A | — | pathogenic |
| rs368410184 | 20:60,575,637 | G/A | — | uncertain significance |
| rs372933073 | 20:60,578,837 | C/T | — | uncertain significance |
| rs200601665 | 20:60,581,598 | C/T | — | uncertain significance |
| rs2515989112 | 20:60,581,604 | G/A | — | pathogenic |
| rs142826042 | 20:60,581,646 | T/C | — | likely benign |
| rs1190897934 | 20:60,581,670 | C/T | — | uncertain significance |
| rs767742516 | 20:60,581,703 | C/T | — | uncertain significance |
| rs201473542 | 20:60,581,704 | G/A | — | likely benign |
| rs757698279 | 20:60,581,729 | G/A | — | uncertain significance |
| rs746623196 | 20:60,581,744 | G/T | — | likely benign |
| rs1452906612 | 20:60,584,118 | T/C | — | uncertain significance |
| rs2515991992 | 20:60,584,190 | G/C | — | uncertain significance |
| rs2515992024 | 20:60,584,217 | T/G | — | uncertain significance |
| rs1198912126 | 20:60,585,127 | G/A | — | uncertain significance |
| rs2515992939 | 20:60,585,148 | G/A | — | uncertain significance |
| rs200285799 | 20:60,585,155 | C/A | — | uncertain significance |
| rs758556573 | 20:60,585,169 | G/A | — | uncertain significance |
| rs773262955 | 20:60,585,172 | G/A | — | uncertain significance |
| rs758565478 | 20:60,585,203 | C/T | — | uncertain significance |
| rs2515995830 | 20:60,587,899 | G/A | — | uncertain significance |
| rs768283223 | 20:60,587,975 | T/C | — | uncertain significance |
| rs2273991 | 20:60,588,049 | G/C | intron variant | — |
| rs2123150933 | 20:60,589,605 | G/A | — | pathogenic |
| rs150846045 | 20:60,589,652 | C/T | — | uncertain significance |
| rs189152021 | 20:60,595,036 | C/T | intron variant | — |
| rs530085784 | 20:60,605,413 | T/C | — | — |
| rs78331413 | 20:60,637,074 | C/T | upstream gene variant | — |
| rs28381998 | 20:60,638,016 | G/C | upstream gene variant | — |
| rs753587914 | 20:60,639,519 | G/A | — | pathogenic |
| rs1339430212 | 20:60,639,520 | G/C | — | uncertain significance |
| rs771276562 | 20:60,639,558 | G/A | — | uncertain significance |
| rs534010182 | 20:60,639,567 | G/T | — | uncertain significance |
| rs555390926 | 20:60,639,648 | C/T | — | uncertain significance |
| rs1185820891 | 20:60,639,675 | T/G | — | uncertain significance |
| rs2516038223 | 20:60,639,697 | C/T | — | likely benign |
| rs761467549 | 20:60,639,710 | G/A | — | uncertain significance |
| rs1231698546 | 20:60,639,763 | G/C | — | uncertain significance |
| rs2056112817 | 20:60,639,767 | G/A | — | uncertain significance |
| rs1419293591 | 20:60,639,786 | G/C | — | uncertain significance |
| rs769295677 | 20:60,639,800 | G/A | — | uncertain significance |
| rs1159576658 | 20:60,639,822 | T/C | — | uncertain significance |
| rs2516038648 | 20:60,639,828 | G/C | — | uncertain significance |
| rs1168791758 | 20:60,639,832 | C/G | — | uncertain significance |
| rs1292962607 | 20:60,639,836 | G/C | — | uncertain significance |
| rs866955560 | 20:60,639,860 | G/A | — | uncertain significance |
| rs2516038856 | 20:60,639,866 | G/A | — | uncertain significance |
| rs1303759380 | 20:60,639,887 | C/T | — | uncertain significance |
| rs1369654553 | 20:60,639,894 | C/A | — | uncertain significance |
| rs199804789 | 20:60,639,898 | C/A | — | benign |
| rs2516039152 | 20:60,639,923 | G/C | — | uncertain significance |
| rs2516039176 | 20:60,639,927 | C/G | — | uncertain significance |
| rs901131412 | 20:60,639,950 | C/T | — | uncertain significance |
| rs868790311 | 20:60,639,955 | C/T | — | likely benign |
| rs1467457918 | 20:60,639,968 | G/A | — | uncertain significance |
| rs1194605317 | 20:60,639,974 | G/T | — | uncertain significance |
| rs2056116706 | 20:60,640,029 | G/T | — | uncertain significance |
| rs1457876699 | 20:60,640,043 | G/T | — | uncertain significance |
| rs1261047273 | 20:60,640,103 | G/A | — | uncertain significance |
| rs888519412 | 20:60,640,116 | C/T | — | uncertain significance |
| rs1480270744 | 20:60,640,119 | G/C | — | uncertain significance |
| rs752722847 | 20:60,640,137 | C/T | — | uncertain significance |
| rs1169256911 | 20:60,640,148 | G/C | — | uncertain significance |
| rs1255649918 | 20:60,640,154 | A/G | — | uncertain significance |
| rs1457022067 | 20:60,640,172 | G/A | — | uncertain significance |
| rs527409295 | 20:60,640,187 | G/T | — | uncertain significance |
| rs1436162062 | 20:60,640,242 | G/A | — | uncertain significance |
| rs560761408 | 20:60,640,256 | A/C | — | likely benign |
| rs1438158911 | 20:60,640,286 | G/A | — | uncertain significance |
| rs1391704425 | 20:60,640,296 | C/A | — | uncertain significance |
| rs2516041109 | 20:60,640,356 | C/A | — | uncertain significance |
| rs1192187788 | 20:60,640,409 | G/A | — | uncertain significance |
| rs1264780435 | 20:60,640,430 | A/G | — | uncertain significance |
| rs113875178 | 20:60,640,461 | A/C | — | benign |
| rs1396542335 | 20:60,640,466 | G/A | — | benign |
| rs1385710481 | 20:60,640,475 | T/G | — | uncertain significance |
| rs1328914366 | 20:60,640,559 | T/C | — | uncertain significance |
| rs2516041820 | 20:60,640,616 | C/G | — | uncertain significance |
| rs2056126203 | 20:60,640,632 | C/G | — | uncertain significance |
| rs1259961111 | 20:60,640,644 | G/A | — | uncertain significance |
| rs2056126397 | 20:60,640,646 | C/T | — | uncertain significance |
| rs1046374304 | 20:60,640,695 | G/C | — | uncertain significance |
| rs2516042088 | 20:60,640,710 | C/G | — | uncertain significance |
| rs2516042108 | 20:60,640,718 | A/G | — | uncertain significance |
| rs1796329009 | 20:60,640,719 | C/T | — | uncertain significance |
| rs2516042140 | 20:60,640,728 | T/C | — | uncertain significance |
| rs2516042176 | 20:60,640,744 | G/T | — | uncertain significance |
| rs1425848407 | 20:60,640,851 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.