P43268
EV
Gene name |
ETV4 (E1AF, PEA3) |
Protein name |
ETS translocation variant 4 |
Names |
Adenovirus E1A enhancer-binding protein, E1A-F, Polyomavirus enhancer activator 3 homolog, Protein PEA3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2118 |
EC number |
|
Protein Class |
ETS (PTHR11849) |
Descriptions
ETS translocation variant 4 is a transcriptional activator that plays a vital role in keratinocyte differentiation. N-terminal and C-terminal inhibitory segments cooperatively repress DNA binding of ETV4 by packing against the ETS domain. Acetylation of selected lysines within the N-terminal inhibitory domain activates DNA binding.
Autoinhibitory domains (AIDs)
Target domain |
337-430 (ETS domain) |
Relief mechanism |
PTM |
Assay |
Deletion assay, Mutagenesis experiment |
Target domain |
337-430 (ETS domain) |
Relief mechanism |
PTM |
Assay |
Deletion assay, Mutagenesis experiment, Structural analysis |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
4 structures for P43268
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4CO8 | X-ray | 105 A | A | 338-470 | PDB |
| 4UUV | X-ray | 280 A | A/D/G/J/M/P/S/V | 338-435 | PDB |
| 5ILU | X-ray | 110 A | A | 340-436 | PDB |
| AF-P43268-F1 | Predicted | AlphaFoldDB |
412 variants for P43268
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA399721525 rs769832778 |
2 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA8592502 rs769832778 |
2 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA399721542 rs1237593688 |
2 | E>Q | No |
ClinGen TOPMed |
|
|
rs1426178575 CA399721511 |
3 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1426178575 CA399721516 |
3 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA290850078 rs970220648 |
3 | R>W | No |
ClinGen Ensembl |
|
|
rs1567718559 CA399721502 |
4 | R>W | No |
ClinGen Ensembl |
|
|
rs1171015197 CA399721456 |
5 | M>I | No |
ClinGen TOPMed |
|
|
CA290850077 rs892479186 |
5 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs75202146 CA8592501 |
6 | K>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1463695224 CA399721438 |
6 | K>I | No |
ClinGen TOPMed |
|
|
CA399721405 rs1212931801 |
8 | G>R | No |
ClinGen gnomAD |
|
|
rs1272387854 CA399721299 |
12 | Q>* | No |
ClinGen gnomAD |
|
|
rs1199468410 CA399721269 |
13 | Q>L | No |
ClinGen gnomAD |
|
|
rs1042838822 CA399721196 |
16 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA399721190 rs1228086062 |
17 | T>A | No |
ClinGen TOPMed |
|
|
rs773308888 CA8592497 |
17 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399721180 rs773308888 |
17 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399721187 rs1228086062 |
17 | T>P | No |
ClinGen TOPMed |
|
|
CA399721178 rs773308888 |
17 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1216968755 CA399721150 |
19 | S>R | No |
ClinGen TOPMed |
|
|
rs915790708 CA290850074 |
20 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA399720969 rs1314951346 |
23 | P>H | No |
ClinGen gnomAD |
|
|
rs1300666313 CA399720896 |
27 | S>G | No |
ClinGen gnomAD |
|
|
rs1218231250 CA399720858 |
28 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1294970891 CA399720847 |
29 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1367844976 CA399720856 |
29 | R>S | No |
ClinGen gnomAD |
|
|
CA399720838 rs776306922 |
30 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA8592483 rs776306922 |
30 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1049573421 CA290850057 |
30 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8592480 rs760352888 |
31 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8592481 rs201270931 |
31 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399720814 rs760352888 |
31 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399720802 rs1158379806 |
33 | I>S | No |
ClinGen TOPMed |
|
|
rs922360313 CA399720790 |
35 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs922360313 CA290850055 |
35 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA8592476 rs372154151 |
39 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8592475 rs774347424 |
39 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs372154151 CA399720769 |
39 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1312338893 CA399720735 |
44 | S>A | No |
ClinGen gnomAD |
|
|
CA8592473 rs749752498 |
44 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA399720729 rs1321827051 |
45 | L>P | No |
ClinGen TOPMed |
|
|
rs780316290 CA399720723 |
46 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs780316290 CA8592472 |
46 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA290850054 rs370228494 |
50 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs370228494 CA8592471 |
50 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs542080771 CA290850031 |
52 | D>E | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1376062755 CA399720660 |
54 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1200203223 CA399720645 |
56 | D>G | No |
ClinGen gnomAD |
|
|
rs202092741 CA8592441 |
58 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA290850028 rs968034083 |
60 | F>L | No |
ClinGen TOPMed |
|
|
CA399720586 rs1210587023 |
64 | W>C | No |
ClinGen TOPMed |
|
|
rs770188698 CA8592440 |
65 | L>P | No |
ClinGen ExAC |
|
|
CA8592438 rs746305316 |
66 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399720564 rs781638164 |
68 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8592437 rs781638164 |
68 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1376715432 CA399720078 |
68 | A>V | No |
ClinGen gnomAD |
|
|
CA290849080 rs966163888 |
69 | Q>E | No |
ClinGen Ensembl |
|
|
rs572797949 CA290849079 |
69 | Q>H | No |
ClinGen gnomAD |
|
|
rs1464611508 CA399720061 |
71 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA290849078 rs371998454 |
71 | P>L | No |
ClinGen ESP |
|
|
CA399720060 rs1464611508 |
71 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA290849077 rs1019048632 |
72 | D>E | No |
ClinGen Ensembl |
|
|
rs200281297 CA8592416 |
73 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399720031 rs1216469157 |
75 | E>K | No |
ClinGen gnomAD |
|
|
CA8592415 rs778682340 |
79 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1458886043 CA399719706 |
87 | A>D | No |
ClinGen TOPMed |
|
|
CA290848800 rs1049373888 |
89 | H>Q | No |
ClinGen TOPMed |
|
|
rs1384141713 CA399719689 |
90 | S>G | No |
ClinGen TOPMed |
|
|
rs1339332068 CA399719673 |
92 | T>I | No |
ClinGen gnomAD |
|
|
CA8592396 rs114284282 |
93 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769333020 CA8592394 |
98 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA399719618 rs1567710629 |
100 | Q>R | No |
ClinGen Ensembl |
|
|
rs985583488 CA399719611 |
101 | S>N | No |
ClinGen Ensembl |
|
|
CA290848799 rs985583488 |
101 | S>T | No |
ClinGen Ensembl |
|
|
CA290848798 rs934434546 |
102 | P>R | No |
ClinGen TOPMed |
|
|
rs757183296 COSM385435 CA8592391 |
103 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs368196782 COSM266478 CA290848797 |
103 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed gnomAD |
|
rs1020702856 CA290848796 |
105 | D>A | No |
ClinGen gnomAD |
|
|
CA399719586 rs1598202864 |
105 | D>E | No |
ClinGen Ensembl |
|
|
rs199582761 CA8592389 |
106 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746825233 CA8592390 |
106 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1355522965 CA399719573 |
108 | L>R | No |
ClinGen gnomAD |
|
|
rs755163567 CA8592385 |
109 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA290848795 rs956650989 |
110 | C>S | No |
ClinGen TOPMed |
|
|
rs141079631 CA8592383 |
114 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8592384 rs753960184 |
114 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1157046316 CA399719527 |
115 | P>L | No |
ClinGen TOPMed |
|
|
rs151095895 CA8592380 |
115 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA399719524 rs1163096208 |
116 | L>F | No |
ClinGen gnomAD |
|
|
rs1394349898 CA399719502 |
118 | Y>* | No |
ClinGen gnomAD |
|
|
CA8592379 rs762205128 |
119 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA399719485 rs1044858288 |
119 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA8592378 rs775172939 |
120 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1179455018 CA399719423 |
123 | Q>R | No |
ClinGen gnomAD |
|
|
rs769425014 CA8592377 |
126 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8592375 rs776054019 |
127 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1368693587 CA399719261 |
129 | A>T | No |
ClinGen gnomAD |
|
|
CA8592354 rs776144344 |
129 | A>V | No |
ClinGen ExAC |
|
|
CA399719226 rs1598201631 |
131 | D>A | No |
ClinGen Ensembl |
|
|
rs934111095 CA290848739 |
131 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs760204430 CA8592352 |
131 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA399719212 rs1299418382 |
132 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA399719216 rs1299418382 |
132 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs566318920 CA8592351 |
133 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399719180 rs1567710070 |
134 | R>T | No |
ClinGen Ensembl |
|
|
rs1429673426 CA399719171 |
135 | Q>K | No |
ClinGen gnomAD |
|
|
rs922785239 CA290848736 |
137 | A>T | No |
ClinGen Ensembl |
|
|
rs1476756552 CA399719109 |
138 | I>M | No |
ClinGen gnomAD |
|
|
rs1598201507 CA399719121 |
138 | I>V | No |
ClinGen Ensembl |
|
|
CA8592345 rs756738915 |
142 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756738915 CA290848735 |
142 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8592342 rs780292322 |
144 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA399719024 rs1208924803 |
144 | G>S | No |
ClinGen gnomAD |
|
|
rs1264656089 CA399718988 |
145 | A>G | No |
ClinGen gnomAD |
|
|
CA399718948 rs1279328634 |
147 | G>A | No |
ClinGen gnomAD |
|
|
rs199534414 CA290848734 |
149 | S>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA399718871 rs1168872790 |
153 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1408567977 CA399718879 |
153 | P>S | No |
ClinGen gnomAD |
|
|
CA8592336 rs751936103 |
156 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1463812280 CA399718841 |
156 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1171008035 CA399718816 |
158 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1171008035 CA399718814 |
158 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1598201359 CA399718825 |
158 | E>K | No |
ClinGen Ensembl |
|
|
rs764396758 CA8592335 |
159 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs753533432 CA8592333 |
160 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8592334 rs759220792 |
160 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA290848731 rs998796928 |
162 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA399718738 rs1461434305 |
165 | S>F | No |
ClinGen gnomAD |
|
|
rs557760082 CA8592332 |
168 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399718712 rs1598201304 |
168 | T>P | No |
ClinGen Ensembl |
|
|
rs1567709889 CA399718676 |
171 | P>T | No |
ClinGen Ensembl |
|
|
rs1317607842 CA399718653 |
172 | H>Q | No |
ClinGen gnomAD |
|
|
CA399718640 rs772708492 |
173 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8592330 rs772708492 |
173 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761789829 CA8592328 |
174 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs35270564 CA8592327 |
175 | H>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8592324 COSM1251546 rs780197934 |
177 | Y>C | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs749068901 CA8592325 |
177 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA399718587 rs1446359888 |
178 | L>H | No |
ClinGen gnomAD |
|
|
rs374807016 CA8592322 |
179 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399718498 rs1284552053 |
184 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA8592302 rs746055784 |
184 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs144646122 CA8592301 |
186 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1351564527 CA399718459 |
187 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA8592300 rs771042178 |
188 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA8592299 rs747074176 |
189 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA399718388 rs1567709550 |
193 | H>D | No |
ClinGen Ensembl |
|
|
CA399718386 rs1598200477 |
193 | H>P | No |
ClinGen Ensembl |
|
|
CA8592298 rs150119757 VAR_069110 |
195 | F>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA399718339 rs1347289756 |
198 | Q>* | No |
ClinGen gnomAD |
|
|
rs758832558 CA8592297 |
199 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1385056617 CA399718322 |
200 | G>E | No |
ClinGen gnomAD |
|
|
CA399718326 rs1418499327 |
200 | G>R | No |
ClinGen gnomAD |
|
|
CA399718316 rs1159895392 |
201 | G>A | No |
ClinGen gnomAD |
|
|
CA399718317 rs1159895392 |
201 | G>D | No |
ClinGen gnomAD |
|
|
CA8592295 rs779286178 |
202 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8592296 rs144213199 |
202 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8592294 rs755749882 |
203 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1247016295 CA399718302 |
204 | P>H | No |
ClinGen gnomAD |
|
|
CA8592293 rs750129986 |
204 | P>S | No |
ClinGen ExAC |
|
|
CA8592292 rs149750366 |
205 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA399718288 rs1222391032 |
206 | P>L | No |
ClinGen TOPMed |
|
|
rs1268136665 CA399718286 |
207 | A>T | No |
ClinGen TOPMed |
|
|
CA399718280 rs1261633209 |
208 | P>A | No |
ClinGen gnomAD |
|
|
CA290848703 rs915905868 |
209 | Y>C | No |
ClinGen gnomAD |
|
|
CA399718256 rs1598200291 |
211 | H>P | No |
ClinGen Ensembl |
|
|
rs1486498556 CA399718257 |
211 | H>Y | No |
ClinGen TOPMed |
|
|
rs751109306 COSM979782 CA8592290 |
214 | S>L | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs764133419 CA8592289 |
215 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA399718224 rs1429973238 |
216 | P>R | No |
ClinGen gnomAD |
|
|
rs775173545 CA8592287 |
216 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA8592286 rs765042888 |
217 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1446754748 CA399718215 |
217 | C>W | No |
ClinGen TOPMed |
|
|
rs370895197 CA8592285 |
219 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1567709336 CA399718202 |
220 | Y>H | No |
ClinGen Ensembl |
|
|
rs776963387 CA8592283 |
221 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs771132499 CA8592282 |
222 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA399718154 rs1431698591 |
226 | K>R | No |
ClinGen TOPMed |
|
|
CA8592280 rs773215044 |
228 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8592279 rs772586403 |
230 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA399718112 rs1476041750 |
232 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs990736648 CA290848702 |
237 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA8592277 rs779254537 |
237 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8592275 rs375403418 |
238 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8592274 rs781057795 |
239 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202193680 CA290848701 |
240 | P>S | No |
ClinGen Ensembl |
|
|
CA8592273 rs756904345 |
241 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1381416254 CA399718051 |
242 | V>M | No |
ClinGen gnomAD |
|
|
CA8592270 rs758300506 |
245 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA399718025 rs1454278809 |
245 | G>V | No |
ClinGen gnomAD |
|
|
rs150564294 CA290848698 |
246 | G>R | No |
ClinGen ESP |
|
|
CA8592268 rs765066483 |
247 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA290848697 rs765066483 |
247 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8592269 rs201571041 |
247 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399718019 rs201571041 |
247 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1472476182 CA399718012 |
248 | N>S | No |
ClinGen gnomAD |
|
|
rs1318177645 CA399717997 |
250 | H>L | No |
ClinGen TOPMed |
|
|
CA399717978 rs1241859827 |
253 | P>A | No |
ClinGen TOPMed |
|
|
CA399717974 rs1185600613 |
253 | P>L | No |
ClinGen gnomAD |
|
|
rs376917478 CA8592266 |
254 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8592265 rs766597347 |
255 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1040235761 CA8592261 |
257 | V>G | No |
ClinGen gnomAD |
|
|
CA399717955 rs1274952271 |
257 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs773309071 CA8592260 |
258 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA8592259 rs772176664 |
259 | I>T | No |
ClinGen ExAC |
|
|
CA399717928 rs1247601324 |
261 | Q>L | No |
ClinGen gnomAD |
|
|
CA399717925 rs1374164334 |
262 | E>K | No |
ClinGen gnomAD |
|
|
rs142548326 CA8592258 |
264 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM979781 CA8592255 rs749666909 |
267 | A>T | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs770730900 CA8592253 |
269 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1172726613 CA399716388 |
272 | V>I | No |
ClinGen TOPMed |
|
|
CA290846407 rs979920984 |
274 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA399716332 rs529970715 |
275 | C>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA290846405 rs971572480 |
275 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA8592243 rs374876992 |
276 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs866359165 CA290846403 |
276 | A>T | No |
ClinGen gnomAD |
|
|
rs374876992 CA399716328 |
276 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399716289 rs1445332276 |
279 | Y>C | No |
ClinGen TOPMed |
|
|
rs1318317641 CA399716298 |
279 | Y>N | No |
ClinGen gnomAD |
|
|
rs760428912 CA8592242 |
280 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399716248 rs1324728644 |
282 | T>A | No |
ClinGen gnomAD |
|
|
CA399716242 rs759361652 |
282 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA290846400 rs759361652 |
282 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA399716237 rs1398725788 |
283 | E>Q | No |
ClinGen gnomAD |
|
|
CA8592241 rs750690248 |
283 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1289504088 CA399716215 |
284 | G>D | No |
ClinGen gnomAD |
|
|
CA399716201 rs1337940947 |
285 | F>S | No |
ClinGen TOPMed |
|
|
CA399716183 rs1195616438 |
286 | S>P | No |
ClinGen TOPMed |
|
|
rs1567707042 CA399716107 |
291 | G>A | No |
ClinGen Ensembl |
|
|
rs137969667 CA8592238 |
293 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs137969667 CA8592240 |
293 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8592239 rs137969667 |
293 | G>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8592236 rs763506155 |
295 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769220923 CA8592237 |
295 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8592213 rs771773198 |
296 | G>A | No |
ClinGen ExAC |
|
|
CA399715913 rs1385256093 |
299 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA290846333 rs983237636 |
302 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs768097424 CA8592210 |
303 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs748781431 CA8592209 |
304 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780030889 CA8592208 |
305 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs745675283 CA8592206 |
307 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1179245684 CA399715790 |
308 | D>E | No |
ClinGen gnomAD |
|
|
CA399715785 rs1418797104 |
309 | D>G | No |
ClinGen gnomAD |
|
|
rs147888887 CA8592202 |
312 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8592201 rs147888887 |
312 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA290846318 rs1032429002 |
315 | E>* | No |
ClinGen TOPMed |
|
|
CA290846317 rs994464154 |
315 | E>A | No |
ClinGen Ensembl |
|
|
rs980507037 CA290846315 |
316 | K>R | No |
ClinGen TOPMed |
|
|
rs144916436 CA8592200 |
317 | F>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA290846314 rs775023928 |
317 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs144916436 CA8592199 |
317 | F>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399715731 rs1279001524 |
318 | E>Q | No |
ClinGen Ensembl |
|
|
CA399715724 rs1444253958 |
319 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA399715723 rs1444253958 |
319 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs752842316 CA8592180 |
320 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1332271799 CA399715667 |
325 | G>E | No |
ClinGen gnomAD |
|
|
rs995734282 CA290846237 |
325 | G>W | No |
ClinGen TOPMed |
|
|
CA8592178 rs755073701 |
326 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1381202619 CA399715662 |
326 | V>F | No |
ClinGen gnomAD |
|
|
CA8592176 rs761010166 |
327 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8592174 rs750731483 |
327 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA8592175 rs761010166 |
327 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8592172 rs762542952 |
328 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs762542952 CA399715652 |
328 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs781756365 CA8592170 |
330 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1447717081 CA399715626 |
332 | G>V | No |
ClinGen gnomAD |
|
|
CA8592169 rs141569304 |
333 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1567706269 CA399715610 |
335 | Y>C | No |
ClinGen Ensembl |
|
|
rs1567706244 CA399715600 |
336 | Q>H | No |
ClinGen Ensembl |
|
|
rs1017687071 CA290846219 |
336 | Q>K | No |
ClinGen Ensembl |
|
|
CA290846217 rs1018248763 |
337 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs770900086 CA8592167 |
337 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8592165 COSM1493968 rs148198572 |
338 | R>Q | kidney [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs746787291 CA8592166 |
338 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772449304 CA8592164 |
339 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8592163 rs748416766 |
342 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA399715556 rs1473799164 |
344 | W>C | No |
ClinGen gnomAD |
|
|
CA8592160 rs565884490 |
348 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs565884490 CA290846204 |
348 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8592159 rs780428673 |
349 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA8592158 rs756584324 |
349 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs767829041 CA8592156 |
351 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs946119546 CA290846196 |
352 | D>Y | No |
ClinGen TOPMed |
|
|
rs1009668412 CA290846194 |
354 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs762134193 CA8592155 |
355 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA399715455 rs1186959164 |
358 | H>D | No |
ClinGen gnomAD |
|
|
rs149219456 CA8592154 |
360 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA290846187 rs1002680213 |
362 | W>* | No |
ClinGen gnomAD |
|
|
CA8592153 rs376288935 |
363 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM122908 CA8592150 rs374306817 |
365 | R>Q | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
COSM1172421 CA8592151 rs776142667 |
365 | R>W | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs760615534 CA8592149 |
367 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA399715350 rs1159371558 |
367 | M>V | No |
ClinGen TOPMed |
|
|
CA399715327 rs1195189231 |
368 | E>D | No |
ClinGen gnomAD |
|
|
rs201929762 CA8592148 |
370 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA290846182 rs950004591 |
371 | L>P | No |
ClinGen Ensembl |
|
|
CA290846180 rs925179572 |
372 | I>T | No |
ClinGen TOPMed |
|
|
rs377565878 CA8592146 |
374 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs377565878 CA8592145 |
374 | P>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs768920741 CA8592144 |
376 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768920741 CA399715229 |
376 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768810889 CA8592127 |
377 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs749495997 CA8592126 |
378 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8592125 rs775535898 |
379 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA290846125 rs887096121 |
382 | G>C | No |
ClinGen Ensembl |
|
|
CA8592123 rs745889830 |
385 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1037906203 CA290846118 |
387 | R>P | No |
ClinGen Ensembl |
|
|
rs369223687 CA8592122 |
387 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA290846116 rs910270165 |
388 | P>A | No |
ClinGen gnomAD |
|
|
rs747429825 CA8592120 |
389 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201226514 CA290846112 |
389 | A>V | No |
ClinGen 1000Genomes |
|
|
CA399715054 rs1269004981 |
390 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1567705535 CA399715001 COSM3378208 |
393 | D>N | pancreas [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs754622555 CA8592117 |
394 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA290846108 rs891897498 |
395 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1185813714 CA399714950 |
396 | S>N | No |
ClinGen TOPMed |
|
|
CA8592116 rs753554500 |
397 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765893929 CA8592115 |
397 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399714930 rs765893929 |
397 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs987168066 CA290846105 |
398 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs987168066 CA399714919 |
398 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
CA399714913 rs1295330775 |
399 | L>F | No |
ClinGen gnomAD |
|
|
CA8592113 rs371621564 |
400 | R>* | No |
ClinGen ExAC |
|
|
CA8592112 rs767623627 |
400 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA399714881 rs1186950988 |
401 | Y>C | No |
ClinGen gnomAD |
|
|
CA8592111 rs761822251 |
405 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs138305357 CA8592110 |
406 | G>D | No |
ClinGen ESP ExAC TOPMed |
|
|
CA399714760 rs1324748136 |
406 | G>R | No |
ClinGen Ensembl |
|
|
CA8592109 rs763981798 |
407 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1413947362 CA399714718 |
408 | M>V | No |
ClinGen gnomAD |
|
|
rs1464267671 CA399714683 |
409 | Q>* | No |
ClinGen gnomAD |
|
|
rs780818960 CA8592091 |
412 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA399714518 rs1258214040 |
413 | G>A | No |
ClinGen gnomAD |
|
|
rs756788094 CA8592090 |
414 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs751537609 CA8592089 |
415 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373515634 CA8592086 |
415 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8592087 rs373515634 |
415 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs373515634 CA8592088 |
415 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA399714467 rs556620242 |
416 | Y>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA399714468 rs556620242 |
416 | Y>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA399714462 rs1380855852 |
417 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA399714421 rs1420678351 |
419 | K>N | No |
ClinGen TOPMed |
|
|
rs776728470 CA8592082 |
422 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA8592081 rs771026140 |
423 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1304464107 CA399714366 |
423 | E>K | No |
ClinGen gnomAD |
|
|
rs1323536883 CA399714345 |
424 | P>L | No |
ClinGen gnomAD |
|
|
rs1353895815 CA399714351 |
424 | P>S | No |
ClinGen gnomAD |
|
|
rs147099186 CA290846024 |
425 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147099186 CA8592078 |
425 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs117364926 CA8592077 |
426 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368414776 CA8592076 |
428 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8592075 rs58471799 |
433 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376423516 CA8592073 |
434 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399714191 rs1253256854 |
434 | D>H | No |
ClinGen gnomAD |
|
|
rs756841203 CA8592072 |
435 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA8592071 rs148563892 |
436 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs34260468 VAR_048950 CA8592070 |
437 | R>C | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA8592069 rs758253627 |
437 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs963303893 CA290846013 |
438 | P>A | No |
ClinGen gnomAD |
|
|
CA8592067 rs764982452 |
442 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA399713968 rs1411056055 |
446 | R>G | No |
ClinGen gnomAD |
|
|
CA8592064 rs754077603 |
446 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754077603 CA399713963 |
446 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1411056055 CA399713966 |
446 | R>W | No |
ClinGen gnomAD |
|
|
rs760879823 CA8592062 |
447 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA8592061 rs188176311 |
448 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1418923652 CA399713918 |
449 | S>T | No |
ClinGen gnomAD |
|
|
rs1253096815 CA399713905 |
450 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
COSM1383558 CA8592060 rs768121396 |
451 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1254731187 CA399713853 |
452 | D>G | No |
ClinGen TOPMed |
|
|
rs1246028135 CA399713832 |
453 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1246028135 CA399713822 COSM94256 |
453 | T>R | ovary [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs768464501 CA290846002 |
454 | V>L | No |
ClinGen Ensembl |
|
|
CA290846000 rs934174982 |
455 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs892174986 CA399713784 |
456 | L>F | No |
ClinGen gnomAD |
|
|
CA8592057 rs762197744 |
457 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA8592056 rs774883014 |
458 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1328229823 CA399713731 |
459 | L>F | No |
ClinGen gnomAD |
|
|
rs749607350 CA8592054 |
461 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1301957039 CA399713683 |
462 | S>R | No |
ClinGen gnomAD |
|
|
rs746585925 CA8592051 |
463 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399713678 rs770702451 |
463 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8592052 rs770702451 |
463 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758397885 CA8592049 |
464 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748064563 CA8592048 |
464 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA399713651 rs1429281171 |
465 | Y>* | No |
ClinGen gnomAD |
|
|
rs754777184 CA8592046 |
465 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs561366431 CA8592047 |
465 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754777184 CA399713657 |
465 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs1363939958 CA399713627 |
467 | P>L | No |
ClinGen TOPMed |
|
|
rs1434993315 CA399713603 |
470 | A>T | No |
ClinGen gnomAD |
|
|
rs766650217 CA8592044 |
470 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399713590 rs1598188709 |
471 | G>A | No |
ClinGen Ensembl |
|
|
rs1204804775 CA399713583 |
472 | P>A | No |
ClinGen gnomAD |
|
|
CA399713572 rs750558611 |
473 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA8592042 rs750558611 |
473 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1598188656 CA399713562 |
474 | Q>P | No |
ClinGen Ensembl |
|
|
CA290845984 rs1045769531 |
476 | F>L | No |
ClinGen Ensembl |
|
|
rs761905265 CA8592040 |
476 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1567704285 CA399712243 |
480 | G>S | No |
ClinGen Ensembl |
|
|
rs775012630 CA8592039 |
481 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA399712214 rs1233270453 |
482 | Y>* | No |
ClinGen gnomAD |
|
|
CA399712222 rs1598188570 |
482 | Y>S | No |
ClinGen Ensembl |
|
|
rs918089102 CA290845978 |
483 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA8592038 rs764630172 |
483 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399712211 rs764630172 |
483 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763477409 CA8592037 |
484 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA290845976 rs992289835 |
484 | Y>D | No |
ClinGen TOPMed gnomAD |
|
|
CA399712198 rs992289835 |
484 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA8592036 rs775984025 |
485 | Y>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399712185 rs775984025 |
485 | Y>Q | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with P43268
Functions
| Description | ||
|---|---|---|
| EC Number | ||
| Subcellular Localization |
|
|
| PANTHER Family | PTHR11849 | ETS |
| PANTHER Subfamily | PTHR11849:SF181 | ETS TRANSLOCATION VARIANT 4 |
| PANTHER Protein Class |
DNA-binding transcription factor
helix-turn-helix transcription factor winged helix/forkhead transcription factor |
|
| PANTHER Pathway Category | No pathway information available | |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| chromosome | A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA-binding transcription activator activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II. |
| DNA-binding transcription factor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II. |
| RNA polymerase II cis-regulatory region sequence-specific DNA binding | Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II. |
| sequence-specific double-stranded DNA binding | Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| positive regulation of keratinocyte differentiation | Any process that activates or increases the frequency, rate or extent of keratinocyte differentiation. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
40 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A1A4L6 | ETS2 | Protein C-ets-2 | Bos taurus (Bovine) | SS |
| Q2KIC2 | ETV1 | ETS translocation variant 1 | Bos taurus (Bovine) | SS |
| P15062 | ETS1 | Transforming protein p68/c-ets-1 | Gallus gallus (Chicken) | SS |
| P10157 | ETS2 | Protein C-ets-2 | Gallus gallus (Chicken) | SS |
| Q90837 | ERG | Transcriptional regulator Erg | Gallus gallus (Chicken) | SS |
| A2T762 | ETV3 | ETS translocation variant 3 | Pan troglodytes (Chimpanzee) | PR |
| Q04688 | Ets97D | DNA-binding protein Ets97D | Drosophila melanogaster (Fruit fly) | PR |
| Q9Y603 | ETV7 | Transcription factor ETV7 | Homo sapiens (Human) | SS |
| P41212 | ETV6 | Transcription factor ETV6 | Homo sapiens (Human) | SS |
| P78545 | ELF3 | ETS-related transcription factor Elf-3 | Homo sapiens (Human) | SS |
| Q9UKW6 | ELF5 | ETS-related transcription factor Elf-5 | Homo sapiens (Human) | EV |
| P32519 | ELF1 | ETS-related transcription factor Elf-1 | Homo sapiens (Human) | PR |
| Q99607 | ELF4 | ETS-related transcription factor Elf-4 | Homo sapiens (Human) | PR |
| Q06546 | GABPA | GA-binding protein alpha chain | Homo sapiens (Human) | SS |
| O95238 | SPDEF | SAM pointed domain-containing Ets transcription factor | Homo sapiens (Human) | PR |
| P50548 | ERF | ETS domain-containing transcription factor ERF | Homo sapiens (Human) | PR |
| P41162 | ETV3 | ETS translocation variant 3 | Homo sapiens (Human) | PR |
| P11308 | ERG | Transcriptional regulator ERG | Homo sapiens (Human) | EV |
| P41161 | ETV5 | ETS translocation variant 5 | Homo sapiens (Human) | SS |
| P50549 | ETV1 | ETS translocation variant 1 | Homo sapiens (Human) | EV |
| P41970 | ELK3 | ETS domain-containing protein Elk-3 | Homo sapiens (Human) | SS |
| P28324 | ELK4 | ETS domain-containing protein Elk-4 | Homo sapiens (Human) | EV |
| P19419 | ELK1 | ETS domain-containing protein Elk-1 | Homo sapiens (Human) | EV |
| P15036 | ETS2 | Protein C-ets-2 | Homo sapiens (Human) | EV |
| P14921 | ETS1 | Protein C-ets-1 | Homo sapiens (Human) | EV |
| P41971 | Elk3 | ETS domain-containing protein Elk-3 | Mus musculus (Mouse) | EV |
| Q00422 | Gabpa | GA-binding protein alpha chain | Mus musculus (Mouse) | EV |
| P41969 | Elk1 | ETS domain-containing protein Elk-1 | Mus musculus (Mouse) | PR |
| P15037 | Ets2 | Protein C-ets-2 | Mus musculus (Mouse) | SS |
| P27577 | Ets1 | Protein C-ets-1 | Mus musculus (Mouse) | EV |
| P70459 | Erf | ETS domain-containing transcription factor ERF | Mus musculus (Mouse) | PR |
| Q9CXC9 | Etv5 | ETS translocation variant 5 | Mus musculus (Mouse) | SS |
| P41158 | Elk4 | ETS domain-containing protein Elk-4 | Mus musculus (Mouse) | PR |
| P41164 | Etv1 | ETS translocation variant 1 | Mus musculus (Mouse) | SS |
| P81270 | Erg | Transcriptional regulator ERG | Mus musculus (Mouse) | SS |
| P28322 | Etv4 | ETS translocation variant 4 | Mus musculus (Mouse) | SS |
| P41156 | Ets1 | Protein C-ets-1 | Rattus norvegicus (Rat) | SS |
| A4GTP4 | Elk1 | ETS domain-containing protein Elk-1 | Rattus norvegicus (Rat) | PR |
| A3FEM2 | fev | Protein FEV | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| Q9PUQ1 | etv4 | ETS translocation variant 4 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MERRMKAGYL | DQQVPYTFSS | KSPGNGSLRE | ALIGPLGKLM | DPGSLPPLDS | EDLFQDLSHF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QETWLAEAQV | PDSDEQFVPD | FHSENLAFHS | PTTRIKKEPQ | SPRTDPALSC | SRKPPLPYHH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GEQCLYSSAY | DPPRQIAIKS | PAPGALGQSP | LQPFPRAEQR | NFLRSSGTSQ | PHPGHGYLGE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| HSSVFQQPLD | ICHSFTSQGG | GREPLPAPYQ | HQLSEPCPPY | PQQSFKQEYH | DPLYEQAGQP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| AVDQGGVNGH | RYPGAGVVIK | QEQTDFAYDS | DVTGCASMYL | HTEGFSGPSP | GDGAMGYGYE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KPLRPFPDDV | CVVPEKFEGD | IKQEGVGAFR | EGPPYQRRGA | LQLWQFLVAL | LDDPTNAHFI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| AWTGRGMEFK | LIEPEEVARL | WGIQKNRPAM | NYDKLSRSLR | YYYEKGIMQK | VAGERYVYKF |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VCEPEALFSL | AFPDNQRPAL | KAEFDRPVSE | EDTVPLSHLD | ESPAYLPELA | GPAQPFGPKG |
| GYSY |