Q9UN86
Gene name |
G3BP2 (KIAA0660) |
Protein name |
Ras GTPase-activating protein-binding protein 2 |
Names |
G3BP-2, GAP SH3 domain-binding protein 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9908 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
2 structures for Q9UN86
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5DRV | X-ray | 275 A | A | 1-139 | PDB |
| AF-Q9UN86-F1 | Predicted | AlphaFoldDB |
215 variants for Q9UN86
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs753193049 CA2965864 |
8 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357285319 rs1560620881 |
8 | P>T | No |
ClinGen Ensembl |
|
|
CA357285288 rs1316139548 |
13 | R>Q | No |
ClinGen gnomAD |
|
|
CA2965859 rs761045470 |
22 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA2965857 rs548893827 |
29 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 32 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs78721699 CA2965828 |
37 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA2965826 rs760203918 CA2965827 |
37 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA2965824 rs772886543 |
38 | S>F | No |
ClinGen ExAC |
|
|
CA2965823 rs771668396 |
39 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA2965821 rs769146453 |
40 | Y>F | No |
ClinGen ExAC |
|
|
CA2965820 rs769146453 |
40 | Y>S | No |
ClinGen ExAC |
|
|
CA2965819 rs749753720 |
42 | H>L | No |
ClinGen ExAC gnomAD |
|
|
COSM1057566 CA357285080 rs749753720 |
42 | H>R | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA2965818 rs574345924 |
43 | G>R | No |
ClinGen 1000Genomes ExAC |
|
|
CA99771168 rs898328137 |
45 | V>G | No |
ClinGen Ensembl |
|
|
rs1480509432 CA357285044 |
48 | S>G | No |
ClinGen gnomAD |
|
|
rs756221673 CA2965817 |
48 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 65 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs267600258 CA99770108 COSM141086 |
78 | R>C | upper_aerodigestive_tract large_intestine Variant assessed as Somatic; impact. skin [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA357284431 rs1352742071 |
78 | R>H | No |
ClinGen gnomAD |
|
|
rs1166198130 CA357284398 |
83 | H>Y | No |
ClinGen TOPMed |
|
|
CA357284372 rs1397108294 |
87 | S>G | No |
ClinGen TOPMed |
|
|
CA2965789 rs766878865 |
88 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1334099676 CA357284343 |
91 | V>A | No |
ClinGen TOPMed |
|
|
rs761408391 CA2965788 |
97 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs369466216 CA2965787 |
101 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2965785 rs140413061 |
103 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 115 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1185000405 CA357284129 |
121 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 121 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357284130 rs1185000405 |
121 | P>T | No |
ClinGen gnomAD |
|
|
CA357284112 rs1242801096 |
122 | N>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 129 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765465830 CA2965764 |
132 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 132 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 133 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1448699500 CA357283937 |
137 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA357283907 rs1578391226 |
140 | D>H | No |
ClinGen Ensembl |
|
| TCGA novel | 145 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357283850 rs1341217176 |
145 | L>P | No |
ClinGen gnomAD |
|
|
rs905452735 CA99769545 |
146 | D>G | No |
ClinGen Ensembl |
|
|
CA2965740 rs773718595 |
149 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA2965741 rs773718595 |
149 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA2965739 rs772089002 |
150 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357283760 rs1355427733 |
150 | E>Q | No |
ClinGen TOPMed |
|
|
rs761910810 CA2965738 |
151 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774406006 CA2965737 |
153 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA357283730 rs1374189458 |
154 | E>G | No |
ClinGen TOPMed |
|
|
rs768971598 CA2965736 CA357283712 |
156 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357283714 rs1468238767 |
156 | E>G | No |
ClinGen gnomAD |
|
|
CA2965735 rs745638771 |
157 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA357283695 rs1358125520 |
159 | E>K | No |
ClinGen TOPMed |
|
|
CA2965733 rs535899085 |
161 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs746886063 CA2965731 |
166 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1236463614 CA357283617 |
170 | N>S | No |
ClinGen gnomAD |
|
|
rs1182897190 CA357283609 |
171 | A>G | No |
ClinGen gnomAD |
|
|
CA357283603 rs1438364937 |
172 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA2965730 rs777878492 |
173 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357283598 rs777878492 |
173 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs568443932 CA2965728 |
175 | Y>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA99768437 rs768895465 |
176 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs747704973 CA2965727 |
176 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA357283521 rs1450693641 |
179 | H>Q | No |
ClinGen gnomAD |
|
|
rs754723418 CA2965725 |
179 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2965724 rs753433649 |
180 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs766706389 CA2965723 |
182 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1383556633 CA357283387 |
185 | I>L | No |
ClinGen TOPMed |
|
|
CA2965707 COSM1207734 rs754457045 |
187 | E>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs964918593 CA99768049 |
188 | P>R | No |
ClinGen TOPMed |
|
|
rs1560615211 CA357283352 |
188 | P>T | No |
ClinGen Ensembl |
|
| TCGA novel | 190 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357283320 rs1310724610 |
190 | E>G | No |
ClinGen TOPMed |
|
|
rs371079826 CA2965704 |
194 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371262968 CA2965701 |
198 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357283171 rs1560615120 |
201 | E>K | No |
ClinGen Ensembl |
|
|
rs146775757 CA2965699 |
203 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376865388 CA2965698 |
206 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2965697 rs191522721 |
207 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA357283051 rs1362625488 |
209 | L>P | No |
ClinGen Ensembl |
|
| TCGA novel | 212 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765599561 CA2965696 |
213 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA357282984 rs1488900350 |
214 | E>G | No |
ClinGen gnomAD |
|
|
rs1578388251 CA357282957 |
216 | K>E | No |
ClinGen Ensembl |
|
|
CA357282900 rs1430163815 |
219 | E>D | No |
ClinGen TOPMed |
|
|
CA2965693 rs748840062 |
219 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1324953153 CA357282867 |
222 | E>K | No |
ClinGen gnomAD |
|
|
CA2965689 rs748788122 |
225 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs769494348 CA2965687 |
226 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357282798 rs1426245128 |
226 | T>S | No |
ClinGen gnomAD |
|
|
CA2965686 rs746226623 |
227 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199958799 CA2965685 |
228 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA99767815 rs898305768 |
229 | P>L | No |
ClinGen Ensembl |
|
|
CA99767835 rs149145617 |
229 | P>S | No |
ClinGen ESP |
|
|
rs187093571 CA2965684 |
230 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1460133857 CA357282757 |
230 | P>S | No |
ClinGen gnomAD |
|
|
CA357282749 rs1170517222 |
231 | A>T | No |
ClinGen gnomAD |
|
|
rs1479831764 CA357282728 |
233 | P>T | No |
ClinGen gnomAD |
|
|
CA2965680 rs778176701 |
234 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1301098559 CA357282724 |
234 | V>I | No |
ClinGen TOPMed |
|
|
CA2965679 rs758475466 |
235 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs765546547 CA2965677 |
237 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 238 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2965675 rs754122102 |
238 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs767370083 CA2965674 |
240 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 243 | A>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357282603 rs1261313799 |
251 | S>C | No |
ClinGen gnomAD |
|
|
rs145238804 CA2965665 |
261 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357282507 rs150020326 |
266 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2965664 rs150020326 |
266 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA99767164 rs1037396449 |
272 | P>R | No |
ClinGen TOPMed |
|
|
rs1578386513 CA357282460 |
273 | V>A | No |
ClinGen Ensembl |
|
|
CA2965663 rs778324399 |
274 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA2965645 rs759079919 |
276 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs776237062 CA2965644 |
276 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs374522743 CA2965643 |
277 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1325383646 CA357288096 |
278 | V>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 279 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs948199983 CA99798854 |
282 | P>S | No |
ClinGen Ensembl |
|
|
CA99798838 rs747142573 |
284 | V>I | No |
ClinGen Ensembl |
|
|
CA2965639 rs748613172 |
288 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA2965638 rs779591427 |
289 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779591427 CA357287971 |
289 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2965637 rs377618193 |
290 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2965635 rs780308739 |
291 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs749427347 CA2965636 |
291 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1186086259 CA357287943 |
292 | R>C | No |
ClinGen TOPMed |
|
|
rs1186086259 CA357287947 |
292 | R>S | No |
ClinGen TOPMed |
|
|
rs1222103553 CA357287900 |
295 | R>Q | No |
ClinGen gnomAD |
|
|
rs756357623 CA2965634 |
296 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA357287783 rs1405958068 |
303 | P>L | No |
ClinGen TOPMed |
|
|
rs1286422013 CA357287792 |
303 | P>S | No |
ClinGen gnomAD |
|
|
rs763739135 CA2965632 |
305 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1286726864 CA357287737 |
307 | P>S | No |
ClinGen gnomAD |
|
|
rs758213446 CA2965631 |
309 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357287440 rs1168439495 |
311 | R>G | No |
ClinGen TOPMed |
|
|
CA357287416 rs1318035345 |
314 | M>T | No |
ClinGen gnomAD |
|
|
rs1390830794 CA357287397 |
316 | Q>H | No |
ClinGen Ensembl |
|
|
CA99797164 rs1052069846 |
319 | S>C | No |
ClinGen TOPMed |
|
|
CA2965606 rs141113434 |
319 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 322 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357287356 rs1295646787 |
322 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs750010389 CA2965605 |
323 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2965603 rs200985641 |
324 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs774921055 CA357287331 |
326 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs774921055 CA2965602 |
326 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA357287328 rs1299043378 |
327 | Y>H | No |
ClinGen TOPMed |
|
|
CA2965601 rs769146521 |
329 | D>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 341 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 349 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1439916523 CA357287094 |
357 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs759522980 CA2965579 |
365 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA99796599 rs972243668 |
366 | G>D | No |
ClinGen Ensembl |
|
|
CA357286970 rs1462272923 |
375 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 379 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357286921 rs1211466858 |
382 | S>C | No |
ClinGen gnomAD |
|
|
CA357286924 rs1180946886 |
382 | S>P | No |
ClinGen TOPMed |
|
|
rs771005726 CA2965577 |
383 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 386 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1377914761 CA357286888 |
387 | R>I | No |
ClinGen gnomAD |
|
|
CA2965574 rs768404733 |
392 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA2965554 rs775286366 |
394 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs749029538 CA2965555 |
394 | I>V | No |
ClinGen ExAC |
|
|
rs769489164 CA2965553 |
395 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1389351823 CA357286824 |
395 | M>T | No |
ClinGen TOPMed |
|
|
rs1314182191 CA357286807 |
398 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 409 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 409 | T>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA99795984 rs1036359646 |
417 | T>I | No |
ClinGen Ensembl |
|
|
CA2965548 rs376307166 |
420 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs541924504 CA99795932 |
421 | G>A | No |
ClinGen Ensembl |
|
|
CA2965546 rs752285044 |
421 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1319713054 CA357286574 COSM141085 |
424 | R>C | upper_aerodigestive_tract Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA357286569 rs1199084313 |
424 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA357286558 rs1196493640 |
425 | R>K | No |
ClinGen gnomAD |
|
|
CA357286508 rs1488930461 |
429 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs754378203 CA2965543 |
430 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs766826220 CA2965542 |
432 | R>Q | No |
ClinGen ExAC gnomAD |
|
| VAR_036128 | 434 | P>L | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
|
rs1049233709 COSM351065 CA99795906 |
435 | G>C | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs767492113 CA2965539 |
437 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1256877178 CA357286403 |
438 | R>C | No |
ClinGen TOPMed |
|
|
rs1474957884 CA357286388 |
440 | I>F | No |
ClinGen TOPMed |
|
|
rs762154155 CA2965538 |
440 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1170868574 CA357285990 |
441 | V>A | No |
ClinGen gnomAD |
|
|
CA357285998 rs1391541487 |
441 | V>M | No |
ClinGen gnomAD |
|
|
CA357285970 rs1163380101 |
442 | G>V | No |
ClinGen TOPMed |
|
|
CA99795887 rs774416213 |
444 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2965537 rs774416213 |
444 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM40122 CA2965536 rs769670910 |
446 | M>I | large_intestine central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA99795875 rs927583458 |
447 | R>G | No |
ClinGen TOPMed |
|
|
rs1301061476 CA357285915 |
447 | R>H | No |
ClinGen gnomAD |
|
| TCGA novel | 449 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357285906 rs1353143158 |
449 | R>S | No |
ClinGen TOPMed |
|
|
CA2965535 rs745619343 |
452 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1390937060 CA357285863 |
455 | P>L | No |
ClinGen gnomAD |
|
|
rs776731334 CA357285862 |
456 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776731334 CA2965534 |
456 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372322395 CA2965532 |
459 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2965531 rs368804327 |
460 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777490092 CA2965530 |
462 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2965527 rs778395439 |
468 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1271955433 CA357285768 |
470 | T>I | No |
ClinGen TOPMed |
|
|
CA357285765 rs1260042079 |
471 | G>R | No |
ClinGen gnomAD |
|
|
CA2965525 rs529840020 |
472 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 473 | M>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780546429 CA2965524 |
473 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1297137117 CA357285752 |
473 | M>V | No |
ClinGen Ensembl |
|
|
rs1235059529 CA357285738 |
475 | G>S | No |
ClinGen gnomAD |
|
|
rs756683205 CA2965523 |
476 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs993645902 CA99795842 |
476 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA357285701 rs1389288348 |
480 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs917621941 CA99795836 |
481 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA99795837 rs77926705 |
481 | R>S | No |
ClinGen Ensembl |
|
|
rs767685659 COSM177483 CA2965521 |
482 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
No associated diseases with Q9UN86
4 regional properties for Q9UN86
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoplasmic stress granule | A dense aggregation in the cytosol composed of proteins and RNAs that appear when the cell is under stress. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| ribonucleoprotein complex | A macromolecular complex that contains both RNA and protein molecules. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| mRNA binding | Binding to messenger RNA (mRNA), an intermediate molecule between DNA and protein. mRNA includes UTR and coding sequences, but does not contain introns. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| signaling receptor complex adaptor activity | The binding activity of a molecule that provides a physical support for the assembly of a multiprotein receptor signaling complex. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| cytoplasmic sequestering of NF-kappaB | The selective interaction of the transcription factor NF-kappaB with specific molecules in the cytoplasm, thereby inhibiting its translocation into the nucleus. |
| innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
| mRNA transport | The directed movement of mRNA, messenger ribonucleic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| positive regulation of stress granule assembly | Any process that starts or increases the rate, frequency or extent of stress-granule assembly, the aggregation, arrangement and bonding together of proteins and RNA molecules to form a stress granule. |
| protein homooligomerization | The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of identical component monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer. |
| Ras protein signal transduction | The series of molecular signals within the cell that are mediated by a member of the Ras superfamily of proteins switching to a GTP-bound active state. |
| stress granule assembly | The aggregation, arrangement and bonding together of proteins and RNA molecules to form a stress granule. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P97379 | G3bp2 | Ras GTPase-activating protein-binding protein 2 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVMEKPSPLL | VGREFVRQYY | TLLNKAPEYL | HRFYGRNSSY | VHGGVDASGK | PQEAVYGQND |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IHHKVLSLNF | SECHTKIRHV | DAHATLSDGV | VVQVMGLLSN | SGQPERKFMQ | TFVLAPEGSV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PNKFYVHNDM | FRYEDEVFGD | SEPELDEESE | DEVEEEQEER | QPSPEPVQEN | ANSGYYEAHP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VTNGIEEPLE | ESSHEPEPEP | ESETKTEELK | PQVEEKNLEE | LEEKSTTPPP | AEPVSLPQEP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PKAFSWASVT | SKNLPPSGTV | SSSGIPPHVK | APVSQPRVEA | KPEVQSQPPR | VREQRPRERP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GFPPRGPRPG | RGDMEQNDSD | NRRIIRYPDS | HQLFVGNLPH | DIDENELKEF | FMSFGNVVEL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| RINTKGVGGK | LPNFGFVVFD | DSEPVQRILI | AKPIMFRGEV | RLNVEEKKTR | AARERETRGG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GDDRRDIRRN | DRGPGGPRGI | VGGGMMRDRD | GRGPPPRGGM | AQKLGSGRGT | GQMEGRFTGQ |
| RR |