P11308
EV
Gene name |
ERG |
Protein name |
Transcriptional regulator ERG |
Names |
Transforming protein ERG |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2078 |
EC number |
|
Protein Class |
ETS (PTHR11849) |
Descriptions
The Ets-Related Gene (ERG) belongs to the Ets family of transcription factors and is critically important for maintenance of the hematopoietic stem cell population. In the presence of the NID (N-terminal inhibitory domain) and CID (C-terminal inhibitory domain), ERG is autoinhibited.
Autoinhibitory domains (AIDs)
Target domain |
289-378 (Ets domain) |
Relief mechanism |
Ligand binding, Others |
Assay |
Split protein assay, Mutagenesis experiment, Structural analysis |
Target domain |
289-378 (Ets domain) |
Relief mechanism |
Ligand binding, Others |
Assay |
Split protein assay, Mutagenesis experiment, Structural analysis |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
9 structures for P11308
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1SXE | NMR | - | A | 108-201 | PDB |
| 4IRG | X-ray | 170 A | A | 306-405 | PDB |
| 4IRH | X-ray | 210 A | A | 280-405 | PDB |
| 4IRI | X-ray | 277 A | A | 280-405 | PDB |
| 5YBC | X-ray | 250 A | A/C | 310-401 | PDB |
| 5YBD | X-ray | 277 A | A/X | 310-399 | PDB |
| 6VGE | X-ray | 425 A | A | 306-419 | PDB |
| 6VGG | X-ray | 431 A | A | 306-419 | PDB |
| AF-P11308-F1 | Predicted | AlphaFoldDB |
264 variants for P11308
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs952492391 CA320881407 |
5 | I>V | No |
ClinGen Ensembl |
|
|
rs1302693098 CA409941696 |
11 | V>I | No |
ClinGen TOPMed |
|
|
rs757203419 CA409941623 |
14 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749385840 CA10025254 |
16 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA10025253 rs778042834 |
17 | S>L | No |
ClinGen ExAC TOPMed |
|
|
rs1160532072 CA409941532 |
19 | F>Y | No |
ClinGen gnomAD |
|
|
CA10025250 rs752920173 |
22 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409941471 rs1437302539 |
22 | A>V | No |
ClinGen gnomAD |
|
|
rs755303168 CA10025248 |
24 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766904661 CA10025246 |
25 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs763409220 CA10025245 |
25 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10025243 rs763544450 |
27 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA10025242 rs760206155 |
29 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1033623157 CA320485503 |
29 | A>V | No |
ClinGen Ensembl |
|
|
rs775054246 CA10025241 |
30 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA320485494 rs985129737 |
30 | K>R | No |
ClinGen TOPMed |
|
|
rs1328729843 CA409941283 |
33 | M>T | No |
ClinGen gnomAD |
|
|
rs951662110 CA320485493 |
33 | M>V | No |
ClinGen Ensembl |
|
|
rs774083516 CA10025238 |
35 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA320485470 rs993206522 |
35 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA409941236 rs1409965945 |
36 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs749235777 CA10025236 |
38 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs769957252 CA10025234 COSM1030640 |
40 | D>N | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs748243137 CA10025233 |
42 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA10025230 rs148089492 |
50 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10025229 rs542019196 COSM1030639 |
50 | R>H | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA409940977 rs1375725814 |
51 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA10025228 rs200306085 COSM1414071 |
51 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs368216691 CA10025226 |
54 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA409940911 rs1394669101 |
55 | D>N | No |
ClinGen gnomAD |
|
|
rs767198932 CA10025223 |
60 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1438907930 CA409940770 |
63 | R>S | No |
ClinGen gnomAD |
|
|
CA409940762 rs1248151471 |
64 | V>F | No |
ClinGen TOPMed |
|
|
CA409940759 rs1601413099 |
64 | V>G | No |
ClinGen Ensembl |
|
|
rs774176629 COSM3389998 CA10025221 |
66 | I>V | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA10025218 rs142996574 |
68 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA320485362 rs142996574 |
68 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770585152 CA10025220 |
68 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10025219 rs762874776 |
68 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1487156770 CA409940655 |
70 | C>R | No |
ClinGen gnomAD |
|
|
CA409940639 rs1261635088 |
70 | C>Y | No |
ClinGen gnomAD |
|
|
rs756077773 CA320485330 |
71 | N>I | No |
ClinGen Ensembl |
|
|
CA409940601 rs1216320068 |
71 | N>K | No |
ClinGen gnomAD |
|
|
CA10025216 rs748226651 |
72 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs372234446 CA10025215 |
72 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768900377 CA10025214 |
73 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409940516 rs1411861907 |
77 | G>S | No |
ClinGen TOPMed |
|
|
rs377622362 CA320467346 |
80 | N>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA409938324 rs1308010645 |
80 | N>S | No |
ClinGen TOPMed |
|
|
rs761890055 CA10025198 |
81 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA409938295 rs1569086547 |
82 | P>L | No |
ClinGen Ensembl |
|
|
CA10025197 rs139171634 |
85 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10025196 rs768577569 |
87 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10025194 rs775515463 |
88 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs747113665 CA10025195 |
88 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs746222791 CA10025192 |
90 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA320467301 rs746222791 |
90 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409938184 rs1255036573 |
91 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA409938191 rs144012510 |
91 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144012510 CA10025190 |
91 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1227618388 CA409938180 |
92 | K>E | No |
ClinGen gnomAD |
|
|
rs111905376 CA320467256 |
92 | K>N | No |
ClinGen Ensembl |
|
|
rs201193348 CA10025189 |
93 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778377918 CA10025188 |
93 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA409938127 rs1217892954 |
96 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA10025187 rs754381026 |
96 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs150483062 CA320467229 |
97 | P>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs150483062 CA10025186 |
97 | P>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA409938106 rs1406398341 |
98 | D>G | No |
ClinGen TOPMed |
|
|
rs1332426793 CA409938085 |
100 | V>D | No |
ClinGen gnomAD |
|
|
rs140580933 CA409938087 |
100 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1661711 rs140580933 CA10025184 |
100 | V>I | kidney [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs750219789 CA10025183 |
103 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409938045 rs1450817285 |
104 | Y>H | No |
ClinGen TOPMed |
|
|
rs1464176138 CA409938027 |
105 | G>D | No |
ClinGen gnomAD |
|
|
rs371043321 CA10025181 |
105 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10025180 rs776363614 |
106 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA409937991 rs1472664284 |
108 | M>T | No |
ClinGen gnomAD |
|
|
CA10025179 rs151323145 |
108 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs866682030 CA320467154 |
109 | E>K | No |
ClinGen gnomAD |
|
|
rs866682030 CA409937983 |
109 | E>Q | No |
ClinGen gnomAD |
|
|
CA10025178 rs760655364 |
116 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760655364 CA320467145 |
116 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143469581 CA10025177 |
118 | M>V | No |
ClinGen ESP ExAC |
|
|
CA10025176 rs772248149 |
120 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs528221936 CA10025173 COSM3423957 |
122 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs528221936 CA10025172 |
122 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs187337793 COSM725163 CA10025170 |
123 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA10025169 rs372598575 |
123 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1028107759 CA320467077 |
127 | V>M | No |
ClinGen Ensembl |
|
|
CA409937754 rs1241407347 |
129 | A>V | No |
ClinGen gnomAD |
|
|
CA10025150 rs140222241 |
132 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201462696 CA320483938 |
134 | W>C | No |
ClinGen Ensembl |
|
|
CA320483932 rs968569145 |
135 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1426616500 CA409946987 |
135 | S>R | No |
ClinGen gnomAD |
|
|
CA409946969 rs1477439006 |
138 | H>Y | No |
ClinGen gnomAD |
|
|
CA10025146 COSM187310 rs146705250 |
140 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
COSM1205633 rs1195312059 CA409946956 |
140 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs201672509 CA10025145 |
144 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs755886711 CA10025144 |
145 | W>G | No |
ClinGen ExAC gnomAD |
|
|
CA10025143 rs369318352 |
146 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143233807 CA320483917 |
146 | A>T | No |
ClinGen ESP TOPMed |
|
|
rs369318352 CA10025142 COSM1534703 |
146 | A>V | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA409946872 rs201110093 |
147 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA10025140 rs201110093 |
147 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA10025139 rs766583080 |
148 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA409946831 rs1401160063 |
150 | Y>H | No |
ClinGen gnomAD |
|
|
CA409946797 rs1340220492 |
153 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA10025137 rs552037654 |
155 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1360518499 CA409946747 |
157 | I>F | No |
ClinGen gnomAD |
|
|
rs1360518499 CA409946743 |
157 | I>V | No |
ClinGen gnomAD |
|
|
rs781028984 CA320483841 |
158 | L>F | No |
ClinGen gnomAD |
|
|
CA10025136 rs770154070 |
158 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1288354400 CA409946710 |
160 | F>L | No |
ClinGen Ensembl |
|
|
CA409946695 rs1422456446 |
161 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA10025135 rs762087797 |
161 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409946682 rs1360534838 |
162 | N>D | No |
ClinGen TOPMed |
|
|
rs778604904 CA10025132 |
164 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10025133 rs769340813 |
164 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1291165635 CA409946603 |
167 | E>D | No |
ClinGen gnomAD |
|
|
CA409946473 rs1219744755 |
176 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA320483826 rs981327491 |
178 | R>G | No |
ClinGen gnomAD |
|
|
CA320483820 rs368650349 |
178 | R>K | No |
ClinGen ESP TOPMed |
|
|
CA10025127 rs568944041 |
180 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10025126 rs752506602 |
180 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1416359930 CA409946413 |
181 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA10025125 rs781094411 |
182 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA10025124 rs754976241 |
183 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs751609059 CA10025123 |
184 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA320483809 rs1004072779 |
184 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA320483786 rs1048054600 |
185 | A>T | No |
ClinGen TOPMed |
|
|
rs1384526747 CA409946357 |
186 | D>N | No |
ClinGen Ensembl |
|
|
rs71316642 CA10025121 |
195 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA409946211 rs1168532464 |
196 | R>K | No |
ClinGen gnomAD |
|
|
CA409946192 rs1425323523 |
197 | E>K | No |
ClinGen gnomAD |
|
|
rs1425323523 CA409946191 |
197 | E>Q | No |
ClinGen gnomAD |
|
|
CA409945940 rs1283544903 |
198 | T>I | No |
ClinGen TOPMed |
|
|
CA409945865 rs1240440859 |
202 | H>R | No |
ClinGen gnomAD |
|
|
CA409945839 rs1352250994 |
204 | T>A | No |
ClinGen gnomAD |
|
|
rs1376311964 CA409945689 |
214 | N>I | No |
ClinGen TOPMed |
|
|
CA409945693 rs1376311964 |
214 | N>T | No |
ClinGen TOPMed |
|
|
CA10025081 rs769456407 |
217 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149928865 COSM404727 CA10025080 |
219 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA409945604 rs1220387591 |
220 | H>R | No |
ClinGen Ensembl |
|
|
CA409945274 rs1411605062 |
227 | A>T | No |
ClinGen gnomAD |
|
|
CA320481697 rs968856573 |
230 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1157934556 CA409945253 |
230 | I>V | No |
ClinGen gnomAD |
|
|
rs1301193472 CA409945237 |
232 | P>Q | No |
ClinGen gnomAD |
|
|
CA409945222 rs766883339 |
234 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA10025046 rs766883339 |
234 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs548597892 CA10025045 |
236 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA409945195 rs1170683690 |
239 | E>Q | No |
ClinGen gnomAD |
|
|
rs1569066440 CA409945185 |
240 | A>D | No |
ClinGen Ensembl |
|
|
CA320481654 rs201608060 |
244 | I>V | No |
ClinGen 1000Genomes |
|
|
rs760289481 CA10025042 |
246 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA409943845 rs1456704165 |
251 | P>R | No |
ClinGen TOPMed |
|
|
rs368736293 CA10024993 |
251 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA409943825 rs1395772766 |
254 | P>S | No |
ClinGen Ensembl |
|
|
CA409943817 rs1601325946 |
255 | P>R | No |
ClinGen Ensembl |
|
|
rs1186893345 CA409943790 |
259 | A>V | No |
ClinGen gnomAD |
|
|
rs1460090585 CA409943781 |
260 | W>C | No |
ClinGen gnomAD |
|
|
CA409943777 rs1260539535 |
261 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA10024989 rs747584221 |
262 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1212392138 CA409943765 |
263 | H>R | No |
ClinGen gnomAD |
|
|
rs1271368472 CA409943767 |
263 | H>Y | No |
ClinGen gnomAD |
|
|
rs866293609 CA320476852 |
264 | G>D | No |
ClinGen Ensembl |
|
|
CA10024987 rs754469072 |
264 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409943751 rs1379956409 |
265 | H>Q | No |
ClinGen gnomAD |
|
|
CA10024986 COSM1030636 rs751217612 |
267 | T>M | central_nervous_system endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA10024984 rs758212054 |
268 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA409943732 rs1345836951 |
269 | Q>E | No |
ClinGen gnomAD |
|
|
CA409943729 rs1168030806 |
269 | Q>R | No |
ClinGen gnomAD |
|
|
COSM327800 CA409943721 rs1414795545 |
270 | S>L | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA320476822 rs557419877 |
270 | S>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA10024963 rs542821839 |
275 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1453069693 CA409943605 |
276 | S>F | No |
ClinGen gnomAD |
|
|
rs753741115 CA10024961 |
277 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1429260572 CA409943561 |
280 | V>G | No |
ClinGen gnomAD |
|
|
rs760729141 CA10024959 |
280 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1479045605 CA409943515 |
284 | E>K | No |
ClinGen gnomAD |
|
|
rs767696935 CA10024957 |
287 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759803619 CA10024956 |
287 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409943470 rs767696935 |
287 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774459423 CA10024955 |
289 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs771636871 CA10024930 |
299 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1401427882 CA409942835 |
302 | R>C | No |
ClinGen gnomAD |
|
|
COSM1030633 rs774038422 CA10024928 |
302 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs770554300 CA10024927 |
303 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1306721431 CA409942810 |
304 | A>E | No |
ClinGen TOPMed |
|
|
rs749080548 CA10024926 |
306 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA320472124 rs974885746 |
325 | S>C | No |
ClinGen Ensembl |
|
|
rs1407239004 CA409942200 |
331 | T>A | No |
ClinGen TOPMed |
|
|
CA320472117 rs947562455 |
336 | N>D | No |
ClinGen Ensembl |
|
|
rs769512757 CA10024906 |
336 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs781098288 CA10024904 |
338 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10024902 rs747083136 |
342 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409941999 rs1279431714 |
343 | D>H | No |
ClinGen gnomAD |
|
|
CA10024899 rs750603713 |
349 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1333152977 CA409941910 |
350 | R>C | No |
ClinGen gnomAD |
|
|
rs1404777513 CA409941866 |
354 | R>Q | No |
ClinGen gnomAD |
|
|
rs547051424 CA10024898 |
354 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA409941848 rs1205761539 |
356 | S>G | No |
ClinGen TOPMed |
|
|
rs1601314103 CA409941826 |
357 | K>N | No |
ClinGen Ensembl |
|
|
CA320472038 rs764628874 |
359 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10024895 rs764628874 |
359 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1401874217 CA409941791 |
360 | M>I | No |
ClinGen gnomAD |
|
|
rs762529914 CA10024891 |
376 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs550815001 CA320471987 |
377 | I>V | No |
ClinGen Ensembl |
|
|
rs1190176025 CA409941406 |
381 | V>I | No |
ClinGen TOPMed |
|
|
CA10024887 COSM1616056 rs776452839 |
385 | R>C | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
COSM1030632 CA10024884 rs780042015 |
391 | D>N | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA10024882 rs746001963 |
395 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs1430433266 CA409941151 |
395 | I>V | No |
ClinGen TOPMed |
|
|
rs779273424 CA10024881 |
396 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1280909224 CA409941085 |
399 | L>V | No |
ClinGen gnomAD |
|
|
CA320471951 rs929460245 |
402 | H>N | No |
ClinGen TOPMed |
|
|
rs754230664 CA409941016 |
402 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753079929 CA10024876 |
403 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA10024877 rs756534988 |
403 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs756534988 CA10024878 |
403 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA10024874 rs201647507 |
404 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA320471935 COSM3713441 rs919467999 |
404 | P>L | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA10024872 rs371726277 |
407 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1447552403 CA409940810 |
414 | D>A | No |
ClinGen TOPMed |
|
|
CA10024868 rs760527652 |
416 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA320471915 rs879111240 |
416 | P>S | No |
ClinGen Ensembl |
|
|
rs1244217018 CA409940768 |
417 | Y>N | No |
ClinGen gnomAD |
|
|
rs1203601203 CA409940749 |
418 | M>L | No |
ClinGen gnomAD |
|
|
rs1203601203 CA409940748 |
418 | M>V | No |
ClinGen gnomAD |
|
|
rs1321793831 CA409940732 |
419 | G>A | No |
ClinGen gnomAD |
|
|
rs1490678358 CA409940722 |
420 | S>T | No |
ClinGen TOPMed |
|
|
rs775272529 CA10024867 |
421 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA320471903 rs774845793 |
421 | Y>H | No |
ClinGen Ensembl |
|
|
CA409940669 rs1463420568 |
423 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs772114198 CA10024866 |
424 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA409940553 rs1468265299 |
429 | N>D | No |
ClinGen TOPMed |
|
|
CA10024862 rs749482905 |
433 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs200995073 CA10024863 |
433 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1403874321 CA409940448 |
435 | P>T | No |
ClinGen gnomAD |
|
|
CA10024861 rs531377811 COSM1713987 |
436 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA10024860 rs756376317 |
439 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA409940407 COSM295710 rs1363790097 |
440 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA409940344 rs1183474286 |
445 | F>C | No |
ClinGen gnomAD |
|
|
rs1460346267 CA409940308 |
448 | A>V | No |
ClinGen gnomAD |
|
|
CA409940266 rs1240625071 |
452 | Y>* | No |
ClinGen gnomAD |
|
|
CA409940270 rs1335447207 |
452 | Y>C | No |
ClinGen TOPMed |
|
|
rs1440249920 CA409940207 |
456 | P>L | No |
ClinGen TOPMed |
|
|
CA10024857 rs755521728 |
457 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA409940191 rs956523547 |
458 | G>A | No |
ClinGen TOPMed |
|
|
rs956523547 CA320471838 |
458 | G>E | No |
ClinGen TOPMed |
|
|
CA409940197 rs1281094910 |
458 | G>R | No |
ClinGen TOPMed |
|
|
rs1271765651 CA409940183 |
459 | G>V | No |
ClinGen gnomAD |
|
|
CA10024854 rs756762411 |
465 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1380476808 CA409940119 |
465 | R>K | No |
ClinGen gnomAD |
|
|
rs753370336 CA10024853 |
466 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs775394720 CA10024851 |
468 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs775394720 CA10024850 |
468 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs530104625 CA10024849 |
469 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1474093558 CA409940077 |
469 | S>T | No |
ClinGen gnomAD |
|
|
rs371472449 CA10024848 |
472 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10024847 rs774462875 |
473 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1442916763 CA409940021 |
474 | H>R | No |
ClinGen gnomAD |
|
|
rs1162982418 CA409940024 |
474 | H>Y | No |
ClinGen gnomAD |
|
|
CA10024846 rs771070184 |
477 | T>A | No |
ClinGen ExAC gnomAD |
2 associated diseases with P11308
[MIM: 612219]: Ewing sarcoma (ES)
A highly malignant, metastatic, primitive small round cell tumor of bone and soft tissue that affects children and adolescents. It belongs to the Ewing sarcoma family of tumors, a group of morphologically heterogeneous neoplasms that share the same cytogenetic features. They are considered neural tumors derived from cells of the neural crest. Ewing sarcoma represents the less differentiated form of the tumors. {ECO:0000269|PubMed:8076344}. Note=The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration involving ERG has been found in patients with Erwing sarcoma. Translocation t(21;22)(q22;q12) with EWSR1. {ECO:0000269|PubMed:8076344}.
Without disease ID
- A highly malignant, metastatic, primitive small round cell tumor of bone and soft tissue that affects children and adolescents. It belongs to the Ewing sarcoma family of tumors, a group of morphologically heterogeneous neoplasms that share the same cytogenetic features. They are considered neural tumors derived from cells of the neural crest. Ewing sarcoma represents the less differentiated form of the tumors. {ECO:0000269|PubMed:8076344}. Note=The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration involving ERG has been found in patients with Erwing sarcoma. Translocation t(21;22)(q22;q12) with EWSR1. {ECO:0000269|PubMed:8076344}.
1 regional properties for P11308
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Ets domain | 310 - 395 | IPR000418 |
Functions
| Description | ||
|---|---|---|
| EC Number | ||
| Subcellular Localization |
|
|
| PANTHER Family | PTHR11849 | ETS |
| PANTHER Subfamily | PTHR11849:SF216 | TRANSCRIPTIONAL REGULATOR ERG |
| PANTHER Protein Class |
DNA-binding transcription factor
helix-turn-helix transcription factor winged helix/forkhead transcription factor |
|
| PANTHER Pathway Category |
PDGF signaling pathway Ets |
|
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| 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. |
| ribonucleoprotein complex | A macromolecular complex that contains both RNA and protein molecules. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| chromatin binding | Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| 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. |
5 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 transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
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 |
| P43268 | ETV4 | ETS translocation variant 4 | 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 |
| P41969 | Elk1 | ETS domain-containing protein Elk-1 | Mus musculus (Mouse) | PR |
| P28322 | Etv4 | ETS translocation variant 4 | Mus musculus (Mouse) | SS |
| 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 |
| Q00422 | Gabpa | GA-binding protein alpha chain | Mus musculus (Mouse) | EV |
| P81270 | Erg | Transcriptional regulator ERG | 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 |
| Q9PUQ1 | etv4 | ETS translocation variant 4 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| A3FEM2 | fev | Protein FEV | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MASTIKEALS | VVSEDQSLFE | CAYGTPHLAK | TEMTASSSSD | YGQTSKMSPR | VPQQDWLSQP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PARVTIKMEC | NPSQVNGSRN | SPDECSVAKG | GKMVGSPDTV | GMNYGSYMEE | KHMPPPNMTT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NERRVIVPAD | PTLWSTDHVR | QWLEWAVKEY | GLPDVNILLF | QNIDGKELCK | MTKDDFQRLT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PSYNADILLS | HLHYLRETPL | PHLTSDDVDK | ALQNSPRLMH | ARNTGGAAFI | FPNTSVYPEA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TQRITTRPDL | PYEPPRRSAW | TGHGHPTPQS | KAAQPSPSTV | PKTEDQRPQL | DPYQILGPTS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SRLANPGSGQ | IQLWQFLLEL | LSDSSNSSCI | TWEGTNGEFK | MTDPDEVARR | WGERKSKPNM |
| 370 | 380 | 390 | 400 | 410 | 420 |
| NYDKLSRALR | YYYDKNIMTK | VHGKRYAYKF | DFHGIAQALQ | PHPPESSLYK | YPSDLPYMGS |
| 430 | 440 | 450 | 460 | 470 | |
| YHAHPQKMNF | VAPHPPALPV | TSSSFFAAPN | PYWNSPTGGI | YPNTRLPTSH | MPSHLGTYY |