Descriptions

Dbl-family GEFs are the major class of exchange factors for Rho GTPases. The Dbl-family GEF p63RhoGEF, called ARHGEF25, is a mediator of Gαq/11 signaling to RhoA based on its ability to synergize with Gαq/11 resulting in enhanced RhoA signaling. Activated Gαq directly engages and stimulates ARHGEF25. Basically, ARHGEF25 is autoinhibited by the Dbl homology (DH)-associated pleckstrin homology (PH) domain. Activated Gαq relieves this autoinhibition by interacting with a highly conserved C-terminal extension of the PH domain.

Autoinhibitory domains (AIDs)

Target domain

155-347 (DH domain)

Relief mechanism

Partner binding

Assay

Deletion assay, Mutagenesis experiment, Structural analysis

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

2 structures for Q86VW2

Entry ID Method Resolution Chain Position Source
2RGN X-ray 350 A B/E 149-502 PDB
AF-Q86VW2-F1 Predicted AlphaFoldDB

466 variants for Q86VW2

Variant ID(s) Position Change Description Diseaes Association Provenance
CA385539375
rs1594958073
2 R>G No ClinGen
Ensembl
CA385539381
rs60586224
2 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6654103
rs60586224
2 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs60586224
CA6654102
2 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs751372589
CA6654107
3 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA237810061
rs539901025
3 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6654106
rs539901025
3 G>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs770018674
CA6654111
4 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs770018674
CA385539413
4 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA237810066
rs748042670
4 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs770018674
CA6654112
4 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA6654110
rs748042670
4 G>W No ClinGen
ExAC
TOPMed
gnomAD
rs374654393
CA6654113
7 G>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA385539527
rs1425569555
9 R>H No ClinGen
gnomAD
rs1476701414
CA385539559
11 A>T No ClinGen
gnomAD
CA385539617
rs1466619016
13 P>L No ClinGen
gnomAD
rs866562446
CA237810072
14 R>H No ClinGen
Ensembl
CA385539741
rs1565725857
18 K>Q No ClinGen
Ensembl
CA6654118
rs772410817
19 V>L No ClinGen
ExAC
gnomAD
CA385539811
rs1472024007
21 A>T No ClinGen
TOPMed
rs761119691
CA6654120
21 A>V No ClinGen
ExAC
gnomAD
rs909572575
CA237810081
24 G>C No ClinGen
TOPMed
rs909572575
CA385539917
24 G>S No ClinGen
TOPMed
rs941002090
CA237810083
24 G>V No ClinGen
Ensembl
CA385540002
rs1594958193
25 C>W No ClinGen
Ensembl
rs141989565
CA237810086
28 A>P No ClinGen
TOPMed
CA385540092
rs141989565
28 A>S No ClinGen
TOPMed
CA6654124
rs749987642
29 R>Q No ClinGen
ExAC
gnomAD
rs764755815
CA6654123
29 R>W No ClinGen
ExAC
TOPMed
CA385540170
rs1223901092
30 G>V No ClinGen
TOPMed
rs1277199432
CA385540157
30 G>W No ClinGen
gnomAD
CA6654126
rs766016732
31 G>R No ClinGen
ExAC
gnomAD
CA385540219
rs1322353675
31 G>V No ClinGen
TOPMed
CA385540234
rs1237013003
32 R>H No ClinGen
TOPMed
CA385540235
rs1237013003
32 R>L No ClinGen
TOPMed
rs927689400
CA237810094
32 R>S No ClinGen
TOPMed
gnomAD
CA385541426
rs1193170599
34 S>F No ClinGen
gnomAD
rs759188636
CA6654147
34 S>T No ClinGen
ExAC
gnomAD
CA6654148
rs144451436
35 Y>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs936283782
CA237810310
36 S>F No ClinGen
TOPMed
rs1179265081
CA385541461
37 I>F No ClinGen
gnomAD
rs200472423
CA6654150
38 A>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6654149
rs200472423
38 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs139793201
CA6654153
41 E>K No ClinGen
ESP
ExAC
gnomAD
rs1412663943
CA385541522
42 G>R No ClinGen
TOPMed
CA6654155
rs746105629
44 I>M No ClinGen
ExAC
rs1594959035
CA385541551
44 I>V No ClinGen
Ensembl
CA6654156
rs376912565
45 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6654157
rs780245693
47 S>F No ClinGen
ExAC
gnomAD
rs1310888018
CA385541598
48 A>S No ClinGen
gnomAD
rs529397542
CA6654158
49 A>T No ClinGen
1000Genomes
ExAC
gnomAD
rs1313286392
CA385541627
50 S>F No ClinGen
gnomAD
rs768946799
CA6654159
50 S>P No ClinGen
ExAC
TOPMed
gnomAD
COSM1512825
COSM1512824
rs369276230
CA6654162
51 G>C lung [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA6654161
rs369276230
51 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA385541673
rs1468260729
54 A>D No ClinGen
gnomAD
rs1468260729
CA385541675
54 A>V No ClinGen
gnomAD
CA6654166
rs151122035
55 P>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6654167
rs151122035
55 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs151122035
CA6654164
55 P>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA385541783
rs1425941614
63 S>R No ClinGen
gnomAD
CA385541780
rs1415098293
63 S>T No ClinGen
gnomAD
CA6654169
rs775275007
66 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA6654170
rs377531308
67 C>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1332916743
CA385541857
69 P>Q No ClinGen
gnomAD
rs763923142
CA6654171
69 P>S No ClinGen
ExAC
gnomAD
rs753845308
CA6654172
70 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs533686624
CA6654174
71 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs750562465
CA6654175
72 P>Q No ClinGen
ExAC
TOPMed
gnomAD
rs551752562
CA6654176
73 G>A No ClinGen
1000Genomes
ExAC
gnomAD
rs551752562
CA385541909
73 G>E No ClinGen
1000Genomes
ExAC
gnomAD
CA6654179
rs140959163
75 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6654180
rs781496619
76 S>C No ClinGen
ExAC
gnomAD
rs1260194034
CA385541966
77 G>D No ClinGen
gnomAD
rs748430628
CA6654181
78 L>Q No ClinGen
ExAC
gnomAD
CA385541991
rs1352426065
79 R>K No ClinGen
gnomAD
rs770383336
CA6654182
80 R>K No ClinGen
ExAC
TOPMed
gnomAD
rs770383336
CA6654183
80 R>T No ClinGen
ExAC
TOPMed
gnomAD
rs1436539191
CA385542031
82 L>S No ClinGen
TOPMed
CA385542027
rs1238120392
82 L>V No ClinGen
TOPMed
gnomAD
rs199703624
CA6654184
83 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
COSM107020
rs150735183
CA237810352
85 S>F skin [Cosmic] No ClinGen
cosmic curated
Ensembl
rs979136030
CA237810350
85 S>P No ClinGen
Ensembl
CA385542090
rs1325767391
87 H>Y No ClinGen
TOPMed
rs369675789
CA385542118
88 C>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM1363380
COSM1363381
rs771640862
CA6654185
88 C>G large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs369675789
CA6654186
88 C>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA237810358
rs926144701
90 S>T No ClinGen
Ensembl
rs1420944941
CA385542223
95 A>T No ClinGen
gnomAD
CA6654188
rs145779061
96 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA385542236
rs1464651792
96 D>N No ClinGen
gnomAD
CA385542277
rs1594959310
98 G>S No ClinGen
Ensembl
CA385542308
rs1417595663
99 Q>H No ClinGen
TOPMed
CA237810363
rs921491978
100 A>T No ClinGen
TOPMed
gnomAD
rs531612180
CA237810366
100 A>V No ClinGen
Ensembl
rs1445801462
CA385542349
101 G>E No ClinGen
gnomAD
rs1445801462
CA385542351
101 G>V No ClinGen
gnomAD
CA6654190
rs761488499
102 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA385542404
rs1340929966
104 E>K No ClinGen
gnomAD
CA6654206
rs776131100
106 W>C No ClinGen
ExAC
TOPMed
gnomAD
rs1038444571
CA237810390
111 A>T No ClinGen
Ensembl
rs773228709
CA6654209
116 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs773228709
CA237810398
116 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA6654211
rs766273748
117 E>K No ClinGen
ExAC
gnomAD
CA6654212
rs201573584
118 L>M No ClinGen
1000Genomes
ExAC
CA6654215
rs140645509
119 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6654214
rs767849431
119 P>T No ClinGen
ExAC
gnomAD
rs1594959482
CA385542740
120 E>K No ClinGen
Ensembl
rs1192390644
CA385542751
121 L>P No ClinGen
gnomAD
CA385542765
rs1565726678
122 T>S No ClinGen
Ensembl
rs757876691
CA6654219
128 L>S No ClinGen
ExAC
TOPMed
gnomAD
rs1475675956
CA385542850
129 E>G No ClinGen
gnomAD
CA385542866
rs1384011904
130 G>C No ClinGen
gnomAD
rs1405689214
CA385542873
130 G>V No ClinGen
gnomAD
CA6654222
rs754473725
132 G>* No ClinGen
ExAC
gnomAD
CA237810419
rs780840561
133 D>E No ClinGen
TOPMed
CA385542918
rs1434570805
133 D>N No ClinGen
gnomAD
COSM1363383
rs138453741
CA6654223
COSM1363382
135 T>M large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA385542983
rs577533598
136 Q>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6654225
rs577533598
136 Q>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs143068244
CA6654241
138 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs544973692
CA6654240
138 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA237810447
rs868770859
141 E>* No ClinGen
Ensembl
CA237810449
rs368208007
141 E>D No ClinGen
ESP
TOPMed
rs747667238
CA6654242
142 T>I No ClinGen
ExAC
gnomAD
rs777469251
CA6654245
144 S>F No ClinGen
ExAC
TOPMed
COSM1363384
COSM1363385
rs755771922
CA6654243
144 S>P large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA385543308
rs1565726783
145 Q>E No ClinGen
Ensembl
rs1315643782
CA385543355
146 A>D No ClinGen
TOPMed
CA385543417
rs1565726789
148 E>D No ClinGen
Ensembl
CA6654247
rs749148752
149 S>I No ClinGen
ExAC
gnomAD
CA6654249
rs770647857
154 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs1189502842
CA385543629
155 K>* No ClinGen
TOPMed
gnomAD
rs1189502842
CA385543633
155 K>Q No ClinGen
TOPMed
gnomAD
CA237810468
rs894952649
156 K>E No ClinGen
TOPMed
gnomAD
CA237810470
rs947921217
156 K>T No ClinGen
TOPMed
gnomAD
CA6654251
rs561061153
157 A>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA237810473
rs898453360
157 A>T No ClinGen
TOPMed
CA6654252
rs561061153
157 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6654253
rs775468569
160 R>G No ClinGen
ExAC
gnomAD
CA6654272
rs780023911
162 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA385543827
rs1165254996
162 M>L No ClinGen
TOPMed
rs1565726843
CA385543852
162 M>T No ClinGen
Ensembl
rs527974498
CA6654274
163 Y>* No ClinGen
1000Genomes
ExAC
gnomAD
CA6654273
rs747122399
163 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA385544009
rs1331203984
163 Y>N No ClinGen
gnomAD
CA6654275
rs777018043
166 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA6654276
rs762090159
167 E>K No ClinGen
ExAC
gnomAD
CA385544201
rs1333168249
171 T>A No ClinGen
TOPMed
rs773765910
CA6654279
174 M>T No ClinGen
ExAC
gnomAD
rs770113774
CA6654278
174 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA385544356
rs1433843689
176 V>L No ClinGen
TOPMed
gnomAD
CA385544354
rs1433843689
176 V>M No ClinGen
TOPMed
gnomAD
rs61935728
COSM268700
CA237810535
178 D>N large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
rs61935728
CA385544410
178 D>Y No ClinGen
TOPMed
rs147980194
CA6654283
181 Q>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA385544461
rs1316851265
181 Q>L No ClinGen
TOPMed
gnomAD
rs1565727148
CA385544732
187 M>T No ClinGen
Ensembl
rs758139060
CA6654306
190 M>I No ClinGen
ExAC
CA6654307
rs766160305
191 A>T No ClinGen
ExAC
gnomAD
rs1341956486
CA385544832
192 A>S No ClinGen
TOPMed
CA6654308
rs369247314
192 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1429355540
CA385544854
193 Q>P No ClinGen
TOPMed
CA6654309
rs755018413
194 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA385544886
rs1594960352
195 V>G No ClinGen
Ensembl
CA237810621
rs373514799
196 P>R No ClinGen
ESP
TOPMed
gnomAD
rs1463355923
CA385544932
197 E>D No ClinGen
TOPMed
rs902398268
CA237810623
197 E>K No ClinGen
Ensembl
rs1177118328
CA385544944
198 S>N No ClinGen
TOPMed
gnomAD
CA6654311
rs748306195
198 S>R No ClinGen
ExAC
TOPMed
gnomAD
COSM549364
rs1474370014
CA385544976
COSM1140232
200 R>* lung [Cosmic] No ClinGen
cosmic curated
TOPMed
rs756197273
COSM1253174
CA6654313
COSM1253173
200 R>Q oesophagus large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1416622579
CA385544999
201 G>D No ClinGen
gnomAD
CA385545016
rs1465810929
202 R>C No ClinGen
gnomAD
rs777873296
CA6654314
204 R>K No ClinGen
ExAC
gnomAD
CA6654316
rs771228784
211 Q>H No ClinGen
ExAC
gnomAD
rs774815529
CA6654317
214 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs1565727218
CA385545389
COSM694938
COSM1147081
217 H>Y lung [Cosmic] No ClinGen
cosmic curated
Ensembl
CA6654320
rs141643619
219 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA237810642
rs141643619
219 D>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6654341
rs532231407
220 Y>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA385545650
rs1356502299
223 Q>R No ClinGen
TOPMed
CA6654344
rs150532634
226 Q>L No ClinGen
ESP
TOPMed
rs150532634
CA6654343
226 Q>R No ClinGen
ESP
TOPMed
CA6654347
rs547082119
227 R>Q No ClinGen
1000Genomes
ExAC
gnomAD
CA6654346
rs377474244
227 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1474798686
CA385545819
231 D>E No ClinGen
gnomAD
rs759421652
CA6654349
232 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA237810725
rs951176649
234 W>* No ClinGen
TOPMed
CA237810727
rs951176649
234 W>C No ClinGen
TOPMed
CA385545895
rs1396348759
235 L>V No ClinGen
gnomAD
CA6654350
rs767374507
236 A>G No ClinGen
ExAC
gnomAD
CA237810731
rs974306796
236 A>T No ClinGen
Ensembl
CA6654351
rs752715781
238 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs1378382036
CA385546195
243 E>V No ClinGen
gnomAD
CA385546226
rs1278195704
244 R>C No ClinGen
gnomAD
rs1350372396
CA385546231
244 R>H No ClinGen
gnomAD
CA385546215
rs1278195704
244 R>S No ClinGen
gnomAD
rs1259114445
CA385546302
248 M>L No ClinGen
TOPMed
CA6654380
rs374554426
249 Y>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA237810850
rs900217679
253 C>G No ClinGen
Ensembl
CA6654382
rs17857333
253 C>S No ClinGen
ExAC
TOPMed
CA237810853
VAR_039402
rs17857333
253 C>Y No ClinGen
UniProt
ExAC
TOPMed
dbSNP
CA385546459
rs1565727456
255 N>S No ClinGen
Ensembl
rs1238235190
CA385546471
256 K>* No ClinGen
gnomAD
rs748559108
CA6654383
257 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs756826304
CA6654384
258 K>T No ClinGen
ExAC
gnomAD
rs545434777
CA6654388
262 V>M No ClinGen
1000Genomes
ExAC
gnomAD
rs1404632656
CA385548556
264 S>P No ClinGen
gnomAD
rs1412171634
CA385548648
270 Y>F No ClinGen
gnomAD
rs1417038425
CA385548728
273 E>D No ClinGen
TOPMed
rs866129970
CA237810910
273 E>K No ClinGen
gnomAD
CA237810913
rs965201958
274 L>V No ClinGen
TOPMed
rs1373751027
CA385548746
275 R>Q No ClinGen
gnomAD
rs565431564
CA6654403
275 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs878927141
CA237810916
276 Q>R No ClinGen
Ensembl
rs116792227
CA385548773
277 Q>H No ClinGen
1000Genomes
gnomAD
CA237810918
rs116792227
277 Q>H No ClinGen
1000Genomes
gnomAD
rs753076748
CA6654404
278 L>V No ClinGen
ExAC
gnomAD
rs756625592
CA6654405
279 G>V No ClinGen
ExAC
gnomAD
rs1485139707
CA385548801
280 H>L No ClinGen
TOPMed
rs1485139707
CA385548805
280 H>P No ClinGen
TOPMed
CA6654407
rs745434149
281 R>C No ClinGen
ExAC
gnomAD
CA385548818
rs1373989149
281 R>H No ClinGen
gnomAD
CA385548819
rs1373989149
281 R>P No ClinGen
gnomAD
rs1413819587
CA385548837
283 Q>K No ClinGen
gnomAD
rs995795606
CA237810925
285 N>K No ClinGen
gnomAD
rs757911470
CA6654408
285 N>S No ClinGen
ExAC
gnomAD
rs779865792
CA6654409
287 L>F No ClinGen
ExAC
gnomAD
rs547436770
CA237810931
288 L>V No ClinGen
1000Genomes
TOPMed
rs746592951
CA6654411
289 I>T No ClinGen
ExAC
gnomAD
CA385548942
rs1212907781
291 P>H No ClinGen
gnomAD
CA385548943
rs1212907781
291 P>R No ClinGen
gnomAD
CA237810944
rs1027230570
294 R>Q No ClinGen
gnomAD
rs768526101
CA6654412
294 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs776329504
CA6654413
295 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs1176031480
CA385549090
303 K>N No ClinGen
gnomAD
rs1454216761
CA385549161
305 F>V No ClinGen
gnomAD
CA385549189
rs1160362678
306 L>I No ClinGen
gnomAD
rs754646825
CA6654432
308 Y>C No ClinGen
ExAC
gnomAD
rs965146652
CA237811057
310 N>D No ClinGen
TOPMed
COSM1512818
rs1424455112
COSM1512819
CA385549289
310 N>S lung [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1157593756
CA385549302
311 R>T No ClinGen
gnomAD
CA385549314
rs1448254356
312 A>T No ClinGen
TOPMed
CA385549324
rs1565727756
312 A>V No ClinGen
Ensembl
CA385549359
rs1394611832
314 M>T No ClinGen
gnomAD
CA6654433
rs570006492
315 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs747900629
CA6654434
316 T>I No ClinGen
ExAC
gnomAD
rs747900629
CA237811066
316 T>N No ClinGen
ExAC
gnomAD
CA385549423
rs1391888500
317 A>E No ClinGen
TOPMed
gnomAD
CA6654435
rs769521282
317 A>T No ClinGen
ExAC
gnomAD
CA385549427
rs1391888500
317 A>V No ClinGen
TOPMed
gnomAD
CA6654449
rs751098474
321 Q>K No ClinGen
ExAC
gnomAD
CA385549559
rs1205861847
322 A>D No ClinGen
gnomAD
CA6654450
rs754446081
324 E>D No ClinGen
ExAC
gnomAD
CA385549579
rs1253539267
324 E>K No ClinGen
gnomAD
rs780721321
CA6654451
327 C>G No ClinGen
ExAC
gnomAD
rs989235653
CA237811167
329 V>A No ClinGen
gnomAD
CA237811180
rs755574255
332 R>C No ClinGen
TOPMed
gnomAD
rs755574255
CA237811169
332 R>G No ClinGen
TOPMed
gnomAD
COSM294138
CA6654452
rs752298345
332 R>H large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1352758268
CA385549751
335 D>N No ClinGen
gnomAD
rs749063493
CA6654456
336 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA6654455
rs749063493
336 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs777588792
CA6654454
336 M>L No ClinGen
ExAC
gnomAD
rs1476308162
CA385549791
337 M>L No ClinGen
TOPMed
rs542655828
CA6654457
338 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1291616071
CA385549877
340 G>R No ClinGen
gnomAD
CA385549916
rs1378551862
341 R>I No ClinGen
gnomAD
rs760938850
CA6654461
343 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA6654460
rs147406368
343 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs554543726
CA6654462
344 G>E No ClinGen
1000Genomes
ExAC
gnomAD
CA385549962
rs554543726
344 G>V No ClinGen
1000Genomes
ExAC
gnomAD
CA6654463
rs777183338
346 E>G No ClinGen
ExAC
gnomAD
rs1452499132
CA385550123
348 K>Q No ClinGen
gnomAD
CA6654482
rs139724074
351 A>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA385550217
rs139724074
351 A>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA385550192
rs1171624787
351 A>T No ClinGen
gnomAD
CA237811283
rs1041053842
352 Q>K No ClinGen
TOPMed
rs773625202
CA6654483
352 Q>L No ClinGen
ExAC
TOPMed
gnomAD
rs773625202
CA385550239
352 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA385550253
rs1448817776
353 G>V No ClinGen
TOPMed
CA6654484
rs763559683
354 K>E No ClinGen
ExAC
CA237811303
rs1025223101
355 L>P No ClinGen
Ensembl
CA237811310
rs906562147
358 Q>E No ClinGen
Ensembl
rs1594961976
CA385550558
364 T>P No ClinGen
Ensembl
rs760177394
CA6654487
365 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1308863835
CA385550635
367 E>V No ClinGen
TOPMed
CA385550666
rs1273155882
369 G>A No ClinGen
TOPMed
CA6654490
rs757021330
375 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs373576910
CA6654491
375 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA385550824
rs1281629612
376 G>V No ClinGen
gnomAD
rs1293298145
CA385550843
377 R>* No ClinGen
TOPMed
rs375478212
CA6654493
377 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375478212
CA385550846
377 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA385550884
rs1467122427
378 E>D No ClinGen
gnomAD
rs780124033
CA6654494
378 E>G No ClinGen
ExAC
gnomAD
rs79131014
CA6654496
380 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA237811363
COSM1363393
COSM1363392
rs1029273163
380 R>H large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs369900388
CA6654497
COSM3688373
COSM3688374
381 V>I large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA6654498
rs748362162
385 E>* No ClinGen
ExAC
TOPMed
gnomAD
rs1396747504
CA385551060
385 E>D No ClinGen
TOPMed
gnomAD
CA385551063
rs1396747504
385 E>D No ClinGen
TOPMed
gnomAD
CA385551118
rs1481423058
388 I>V No ClinGen
TOPMed
rs1404126919
CA385551135
389 I>V No ClinGen
gnomAD
rs200042882
CA6654499
392 E>G No ClinGen
1000Genomes
ExAC
gnomAD
rs17854492
VAR_039403
CA237811380
397 G>R No ClinGen
UniProt
Ensembl
dbSNP
CA385551399
rs1336739484
398 V>M No ClinGen
gnomAD
rs1233057398
CA385551440
399 R>I No ClinGen
TOPMed
CA385551455
rs1444733437
400 G>R No ClinGen
TOPMed
gnomAD
rs1278144259
CA385551536
403 Q>* No ClinGen
TOPMed
gnomAD
rs987825856
CA237811383
403 Q>R No ClinGen
gnomAD
CA6654500
rs142280351
404 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA385551627
rs1237227344
405 G>V No ClinGen
TOPMed
CA385551668
rs1313264484
407 V>A No ClinGen
TOPMed
rs771537977
CA6654502
408 Y>F No ClinGen
ExAC
gnomAD
CA385551678
rs1257043627
408 Y>H No ClinGen
TOPMed
gnomAD
rs151266618
CA6654504
410 N>K No ClinGen
ESP
ExAC
gnomAD
rs1273563890
CA385551795
413 K>E No ClinGen
gnomAD
CA385551914
rs1396636714
414 V>L No ClinGen
TOPMed
CA237811452
rs948238996
415 S>N No ClinGen
Ensembl
rs1440897750
CA385551989
416 C>S No ClinGen
gnomAD
CA385552032
rs1373684608
418 G>* No ClinGen
gnomAD
rs1471059559
CA385552135
421 G>E No ClinGen
TOPMed
gnomAD
rs370412283
CA6654521
421 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA385552190
rs1167204700
423 L>I No ClinGen
TOPMed
gnomAD
CA6654523
rs746331043
423 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA6654525
rs565885022
424 Q>* No ClinGen
1000Genomes
ExAC
gnomAD
CA6654524
rs565885022
424 Q>E No ClinGen
1000Genomes
ExAC
gnomAD
CA385552269
rs1315168319
425 G>S No ClinGen
gnomAD
rs761212971
CA385552294
426 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs1395062477
CA385552282
426 D>N No ClinGen
gnomAD
rs749400140
CA6654527
427 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs1432852769
CA385552325
428 C>R No ClinGen
gnomAD
CA6654529
rs762829220
429 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA385552353
rs762829220
429 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA6654530
rs766237649
429 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA6654531
rs751370716
431 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs759599421
CA6654533
432 L>V No ClinGen
ExAC
gnomAD
CA385552531
rs1269216994
435 R>I No ClinGen
TOPMed
CA385552536
rs1208448297
436 G>R No ClinGen
TOPMed
rs1262541164
CA385552548
437 P>S No ClinGen
gnomAD
CA385552579
rs1187229812
439 G>D No ClinGen
gnomAD
rs1327378426
CA385552620
442 Q>R No ClinGen
TOPMed
RCV001261750
rs778066908
CA6654537
443 R>C No ClinGen
ClinVar
ExAC
dbSNP
gnomAD
CA237811488
rs1030933223
443 R>H No ClinGen
TOPMed
gnomAD
rs1030933223
CA385552637
443 R>L No ClinGen
TOPMed
gnomAD
CA6654538
rs778066908
443 R>S No ClinGen
ExAC
gnomAD
CA385552654
rs1386501253
444 Y>* No ClinGen
TOPMed
gnomAD
CA6654540
rs372798341
444 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1465255981
CA385552640
444 Y>H No ClinGen
gnomAD
rs1345808773
CA385552662
445 V>A No ClinGen
TOPMed
gnomAD
rs772623460
CA6654542
447 Q>* No ClinGen
ExAC
gnomAD
rs780420723
CA6654543
447 Q>L No ClinGen
ExAC
gnomAD
rs747697380
CA6654544
449 A>P No ClinGen
ExAC
gnomAD
CA237811493
rs1001249025
450 D>E No ClinGen
TOPMed
rs1366246152
CA385552876
453 I>V No ClinGen
TOPMed
rs370713793
CA6654546
454 S>R No ClinGen
ESP
ExAC
gnomAD
rs1232845652
CA385552914
454 S>T No ClinGen
gnomAD
rs760735071
CA237811496
455 Q>R No ClinGen
Ensembl
CA385553006
rs1331332546
457 W>* No ClinGen
gnomAD
CA6654547
rs762737367
458 I>F No ClinGen
ExAC
gnomAD
CA385553058
rs770686201
458 I>M No ClinGen
ExAC
gnomAD
rs189229272
CA6654549
459 K>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA385553151
rs1594962609
460 H>P No ClinGen
Ensembl
CA6654550
rs759403266
460 H>Q No ClinGen
ExAC
gnomAD
rs201365302
CA6654552
462 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6654553
rs760827052
467 S>N No ClinGen
ExAC
gnomAD
rs753921549
CA6654555
469 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA6654554
rs764036012
469 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs150749682
CA6654557
473 N>D No ClinGen
1000Genomes
ExAC
gnomAD
rs1308879969
CA385553524
474 A>T No ClinGen
TOPMed
gnomAD
CA385553771
rs1484019777
476 Q>R No ClinGen
gnomAD
CA385553852
rs1223883211
478 P>S No ClinGen
TOPMed
gnomAD
rs755656909
CA6654581
479 I>T No ClinGen
ExAC
gnomAD
rs1429074041
CA385554009
481 Y>* No ClinGen
gnomAD
CA237811658
rs1050942155
483 R>I No ClinGen
Ensembl
CA385554105
rs766056217
484 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA6654583
rs766056217
484 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA6654582
rs751932441
484 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1594962930
CA385554164
486 S>G No ClinGen
Ensembl
CA6654584
rs781721813
489 N>K No ClinGen
ExAC
gnomAD
CA385554268
rs1416045502
489 N>S No ClinGen
TOPMed
CA6654585
rs748815135
491 L>P No ClinGen
ExAC
gnomAD
rs1293037090
CA385554381
492 G>E No ClinGen
gnomAD
rs116051216
CA385554433
493 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs116051216
CA6654587
COSM171369
493 R>Q large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs756773745
CA6654586
493 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs371753918
CA6654589
494 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs79529064
CA6654590
496 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs375345701
CA237811690
497 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6654591
rs375345701
497 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM1476790
COSM431599
CA385554577
rs1228199341
498 G>A breast [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs949857766
CA385554583
499 V>L No ClinGen
TOPMed
gnomAD
rs949857766
CA237811691
499 V>M No ClinGen
TOPMed
gnomAD
rs369392393
CA6654593
501 S>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6654594
rs115485566
501 S>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs536365007
CA6654595
504 R>K No ClinGen
1000Genomes
ExAC
gnomAD
CA385554806
rs1190449783
505 I>M No ClinGen
gnomAD
rs773245828
CA6654596
506 Q>* No ClinGen
ExAC
gnomAD
CA6654598
rs766612522
506 Q>H No ClinGen
ExAC
gnomAD
rs1564374
CA237811714
506 Q>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA385554818
rs1564374
506 Q>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1564374
VAR_039404
CA6654597
506 Q>R No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA6654599
rs150264977
510 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1027565197
CA237811716
511 A>T No ClinGen
TOPMed
rs759881337
CA6654602
511 A>V No ClinGen
ExAC
gnomAD
rs768155733
CA6654603
513 G>C No ClinGen
ExAC
gnomAD
CA6654604
rs768155733
513 G>S No ClinGen
ExAC
gnomAD
rs115150056
CA6654607
515 T>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs749927530
CA6654609
516 H>P No ClinGen
ExAC
TOPMed
gnomAD
CA385555175
rs1370132779
518 P>A No ClinGen
TOPMed
gnomAD
CA385555182
rs1283058037
518 P>H No ClinGen
TOPMed
CA385555188
rs1283058037
518 P>R No ClinGen
TOPMed
CA385555176
rs1370132779
518 P>S No ClinGen
TOPMed
gnomAD
rs758040973
CA6654610
520 N>D No ClinGen
ExAC
TOPMed
gnomAD
rs779751627
CA6654611
520 N>S No ClinGen
ExAC
gnomAD
rs1323007014
CA385555262
521 G>V No ClinGen
TOPMed
rs199891478
CA6654612
522 S>C No ClinGen
ExAC
gnomAD
rs199891478
CA237811750
522 S>F No ClinGen
ExAC
gnomAD
rs1388200939
CA385555307
523 L>F No ClinGen
TOPMed
rs759557573
CA6654613
524 P>H No ClinGen
ExAC
gnomAD
CA6654614
rs781129004
525 S>C No ClinGen
ExAC
gnomAD
rs1157287337
CA385555440
528 L>R No ClinGen
TOPMed
CA385555482
rs1476879481
530 P>L No ClinGen
gnomAD
CA385555495
rs1565728867
531 K>E No ClinGen
Ensembl
CA385555599
rs1440230400
534 V>A No ClinGen
Ensembl
rs748125313
CA6654618
535 A>D No ClinGen
ExAC
gnomAD
rs1161510073
CA385555686
540 P>T No ClinGen
gnomAD
rs1565728893
CA385555749
543 K>E No ClinGen
Ensembl
CA6654620
rs773340260
544 Q>* No ClinGen
ExAC
TOPMed
gnomAD
CA385557096
rs1354209303
546 L>R No ClinGen
gnomAD
rs749343142
CA6654639
547 G>D No ClinGen
ExAC
gnomAD
CA385557137
rs1180761727
548 D>N No ClinGen
TOPMed
CA6654641
rs774472264
550 P>R No ClinGen
ExAC
gnomAD
rs1207581636
CA385557208
550 P>S No ClinGen
gnomAD
rs1207581636
CA385557204
550 P>T No ClinGen
gnomAD
CA385557232
rs1289593909
551 Q>L No ClinGen
gnomAD
CA6654644
rs776051869
552 A>S No ClinGen
ExAC
gnomAD
CA385557258
rs370774821
553 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6654646
rs370774821
553 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA385557279
rs1594963694
555 D>A No ClinGen
Ensembl
rs1163143985
CA385557303
557 P>A No ClinGen
gnomAD
rs981198557
CA237811909
558 P>L No ClinGen
Ensembl
rs1206887266
CA385557313
558 P>S No ClinGen
TOPMed
gnomAD
CA6654647
rs777137013
560 S>Y No ClinGen
ExAC
gnomAD
rs751012060
CA6654650
562 T>N No ClinGen
ExAC
CA6654649
rs765873004
562 T>P No ClinGen
ExAC
CA385557390
rs1167084712
563 P>S No ClinGen
gnomAD
rs752496393
CA6654654
564 K>E No ClinGen
ExAC
gnomAD
CA6654655
rs755847425
565 T>P No ClinGen
ExAC
TOPMed
gnomAD
rs1338154582
CA385557458
567 P>H No ClinGen
TOPMed
gnomAD
rs1594963788
CA385557466
568 C>G No ClinGen
Ensembl
rs757115464
CA6654660
569 Q>K No ClinGen
ExAC
rs1031346385
CA237811966
570 A>G No ClinGen
TOPMed
gnomAD
rs779094951
CA6654661
570 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA385557508
rs1031346385
570 A>V No ClinGen
TOPMed
gnomAD
rs988243738
CA237811977
571 R>I No ClinGen
TOPMed
gnomAD
rs200996964
CA6654664
572 L>F No ClinGen
1000Genomes
ExAC
gnomAD
CA6654665
rs747388856
572 L>H No ClinGen
ExAC
gnomAD
rs1187477677
CA385557563
574 K>E No ClinGen
TOPMed
gnomAD
rs777034041
CA6654667
574 K>N No ClinGen
ExAC
gnomAD
rs1389917371
CA385557603
576 D>E No ClinGen
gnomAD
rs1187106449
CA385557596
576 D>V No ClinGen
gnomAD
COSM1476791
rs915505248
CA237811984
COSM431600
577 E>K breast [Cosmic] No ClinGen
cosmic curated
Ensembl
rs1458507021
CA385557681
581 L>Q No ClinGen
TOPMed

No associated diseases with Q86VW2

2 regional properties for Q86VW2

Type Name Position InterPro Accession
domain Dbl homology (DH) domain 160 - 336 IPR000219
domain Pleckstrin homology domain 348 - 466 IPR001849

Functions

Description
EC Number
Subcellular Localization
  • Cell membrane
  • Cytoplasm, myofibril, sarcomere
  • Highly colocalizes with actin regions
PANTHER Family PTHR22826 RHO GUANINE EXCHANGE FACTOR-RELATED
PANTHER Subfamily PTHR22826:SF117 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING FAMILY G MEMBER 4B-RELATED
PANTHER Protein Class guanyl-nucleotide exchange factor
G-protein modulator
PANTHER Pathway Category No pathway information available

6 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
extrinsic component of membrane The component of a membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region.
myofibril The contractile element of skeletal and cardiac muscle; a long, highly organized bundle of actin, myosin, and other proteins that contracts by a sliding filament mechanism.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
sarcomere The repeating unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs.

1 GO annotations of molecular function

Name Definition
guanyl-nucleotide exchange factor activity Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions.

3 GO annotations of biological process

Name Definition
axon guidance The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues.
regulation of Rho protein signal transduction Any process that modulates the frequency, rate or extent of Rho protein signal transduction.
regulation of small GTPase mediated signal transduction Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction.

7 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q86YR7 MCF2L2 Probable guanine nucleotide exchange factor MCF2L2 Homo sapiens (Human) SS
O75962 TRIO Triple functional domain protein Homo sapiens (Human) EV
O60229 KALRN Kalirin Homo sapiens (Human) SS
P10911 MCF2 Proto-oncogene DBL Homo sapiens (Human) EV
O15068 MCF2L Guanine nucleotide exchange factor DBS Homo sapiens (Human) SS
Q9CWR0 Arhgef25 Rho guanine nucleotide exchange factor 25 Mus musculus (Mouse) SS
Q6P720 Arhgef25 Rho guanine nucleotide exchange factor 25 Rattus norvegicus (Rat) SS
10 20 30 40 50 60
MRGGHKGGRC ACPRVIRKVL AKCGCCFARG GRESYSIAGS EGSISASAAS GLAAPSGPSS
70 80 90 100 110 120
GLSSGPCSPG PPGPVSGLRR WLDHSKHCLS VETEADSGQA GPYENWMLEP ALATGEELPE
130 140 150 160 170 180
LTLLTTLLEG PGDKTQPPEE ETLSQAPESE EEQKKKALER SMYVLSELVE TEKMYVDDLG
190 200 210 220 230 240
QIVEGYMATM AAQGVPESLR GRDRIVFGNI QQIYEWHRDY FLQELQRCLK DPDWLAQLFI
250 260 270 280 290 300
KHERRLHMYV VYCQNKPKSE HVVSEFGDSY FEELRQQLGH RLQLNDLLIK PVQRIMKYQL
310 320 330 340 350 360
LLKDFLKYYN RAGMDTADLE QAVEVMCFVP KRCNDMMTLG RLRGFEGKLT AQGKLLGQDT
370 380 390 400 410 420
FWVTEPEAGG LLSSRGRERR VFLFEQIIIF SEALGGGVRG GTQPGYVYKN SIKVSCLGLE
430 440 450 460 470 480
GNLQGDPCRF ALTSRGPEGG IQRYVLQAAD PAISQAWIKH VAQILESQRD FLNALQSPIE
490 500 510 520 530 540
YQRRESQTNS LGRPRGPGVG SPGRIQLGDQ AQGSTHTPIN GSLPSLLLSP KGEVARALLP
550 560 570
LDKQALGDIP QAPHDSPPVS PTPKTPPCQA RLAKLDEDEL