Descriptions

Stimulator of interferon genes (STING) plays a role as a sensor to directly bind cyclic diguanylate monophosphate (c-di-GMP), a bacterial second message, facilitates innate immune signaling, and promotes the production of type I interferon for the first line of defense immune. Autoinhibitory conformation of cytosolic c-di-GMP binding domain (CBD) is formed via the intramolecular interaction with the C-terminal tail (CTT), which hinders the binding of c-di-GMP on STING. The presumed CTT-binding site on CBD overlaps with the c-di-GMP-binding site. Upon c-di-GMP binding to CBD, the autoinhibition is relieved and the activated STING activates TBK1 and IRF3 for the induction of IFN response.

Autoinhibitory domains (AIDs)

Target domain

153-340 (Cytosolic c-di-GMP binding domain (CBD))

Relief mechanism

Ligand binding

Assay

Structural analysis

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

86 structures for Q86WV6

Entry ID Method Resolution Chain Position Source
4EF4 X-ray 215 A A/B 139-379 PDB
4EF5 X-ray 245 A A 139-379 PDB
4EMT X-ray 150 A A/B 155-341 PDB
4EMU X-ray 190 A A/B 155-341 PDB
4F5D X-ray 300 A A/B 141-379 PDB
4F5E X-ray 260 A A 141-379 PDB
4F5W X-ray 220 A A 149-379 PDB
4F5Y X-ray 240 A A/B 149-379 PDB
4F9E X-ray 275 A A 139-379 PDB
4F9G X-ray 295 A A/C 139-379 PDB
4KSY X-ray 188 A A 138-379 PDB
4LOH X-ray 225 A A/B 155-341 PDB
4LOI X-ray 189 A A/B 155-341 PDB
4QXO X-ray 188 A A 155-341 PDB
4QXP X-ray 251 A A/B 155-341 PDB
4QXQ X-ray 242 A A/B 155-341 PDB
4QXR X-ray 237 A A/B 155-341 PDB
5BQX X-ray 200 A A 138-379 PDB
5JEJ X-ray 200 A C/D/E 342-377 PDB
6CFF X-ray 240 A A 139-379 PDB
6CY7 X-ray 220 A A 139-379 PDB
6DNK X-ray 195 A A 154-337 PDB
6DXG X-ray 191 A A 153-343 PDB
6DXL X-ray 245 A A/B 153-343 PDB
6MX0 X-ray 173 A A/B 155-341 PDB
6MX3 X-ray 136 A A/B 155-341 PDB
6MXE X-ray 247 A A/B 155-341 PDB
6NT5 EM 410 A A/B 1-379 PDB
6O8B X-ray 340 A D/E 155-379 PDB
6O8C X-ray 317 A D/E 342-379 PDB
6S26 X-ray 205 A A/B 140-343 PDB
6S27 X-ray 280 A A 140-343 PDB
6S86 X-ray 260 A A/B 140-343 PDB
6UKM X-ray 174 A A 155-341 PDB
6UKU X-ray 168 A A 155-341 PDB
6UKV X-ray 183 A A/B 155-341 PDB
6UKW X-ray 197 A A/B 155-341 PDB
6UKX X-ray 193 A A/B 155-341 PDB
6UKY X-ray 195 A A 155-341 PDB
6UKZ X-ray 152 A A/B 155-341 PDB
6UL0 X-ray 176 A A 155-341 PDB
6XF3 X-ray 238 A A/B 155-341 PDB
6XF4 X-ray 277 A A/B 155-341 PDB
6XNP X-ray 177 A A/B 155-341 PDB
6Y99 X-ray 298 A A 140-343 PDB
6YDB X-ray 280 A A 140-343 PDB
6YDZ X-ray 290 A A 140-343 PDB
6YEA X-ray 281 A A 140-343 PDB
6YWA X-ray 231 A A/B 140-343 PDB
6YWB X-ray 250 A A 140-343 PDB
6Z0Z X-ray 250 A A 140-343 PDB
6Z15 X-ray 250 A A 140-343 PDB
7A90 X-ray 319 A A 140-343 PDB
7KVX X-ray 248 A A 140-379 PDB
7KVZ X-ray 235 A A 140-379 PDB
7KW1 X-ray 180 A A 140-379 PDB
7MHC X-ray 232 A A 154-341 PDB
7OB3 X-ray 230 A A 140-343 PDB
7Q3B X-ray 256 A A 140-343 PDB
7Q85 X-ray 236 A A 140-343 PDB
7R4H EM 234 A L 359-367 PDB
7SHO X-ray 225 A B 155-341 PDB
7SHP X-ray 220 A A/B/C/D 155-341 PDB
7SII EM 345 A A/B/C/D 1-344 PDB
7SSM X-ray 196 A A 155-341 PDB
7T9U X-ray 246 A A 149-345 PDB
7T9V X-ray 268 A A/B 149-345 PDB
7X9P X-ray 270 A A 150-379 PDB
7X9Q X-ray 240 A A 150-379 PDB
8A2H X-ray 269 A A/B 140-379 PDB
8A2I X-ray 216 A A/B 140-379 PDB
8A2J X-ray 232 A A/B 140-379 PDB
8A2K X-ray 189 A A/B 140-379 PDB
8B2J X-ray 217 A A/B 138-379 PDB
8FLK EM 400 A A/B/C/D 1-344 PDB
8FLM EM 290 A A/B/C/D 1-344 PDB
8GJX X-ray 260 A A/B 154-341 PDB
8GSZ EM 365 A A/B 1-379 PDB
8GT6 EM 347 A A/B 1-379 PDB
8IK3 EM 330 A A/B/C/D/E/F/G/H 1-379 PDB
8P45 X-ray 323 A A 140-343 PDB
8STH X-ray 197 A A 153-339 PDB
8STI X-ray 172 A A 153-339 PDB
8T5K X-ray 195 A B 154-341 PDB
8T5L X-ray 201 A B 154-341 PDB
AF-Q86WV6-F1 Predicted AlphaFoldDB

274 variants for Q86WV6

Variant ID(s) Position Change Description Diseaes Association Provenance
RCV000810786
rs759944012
CA3435509
17 G>R STING-associated vasculopathy with onset in infancy [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs189211438
RCV000884264
CA3435439
114 G>S STING-associated vasculopathy with onset in infancy [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs142609349
RCV000540617
CA3435433
126 L>I STING-associated vasculopathy with onset in infancy [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA3435431
rs149528532
RCV000923242
127 S>L STING-associated vasculopathy with onset in infancy [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA170518
RCV000133402
rs587777611
147 V>L STING-associated vasculopathy with onset in infancy [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs587777609
RCV000133400
CA170516
154 N>S STING-associated vasculopathy with onset in infancy [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs587777610
RCV000133401
CA170517
RCV000481634
155 V>M STING-associated vasculopathy with onset in infancy [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
CA361480348
RCV000555475
rs1240603758
178 R>W STING-associated vasculopathy with onset in infancy [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
rs201277595
CA3435373
RCV000529082
183 N>S STING-associated vasculopathy with onset in infancy [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs201096097
RCV000539383
CA3435365
192 G>V STING-associated vasculopathy with onset in infancy [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs114834699
CA3435364
RCV000554557
194 V>L STING-associated vasculopathy with onset in infancy [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000652340
CA3435362
rs760564156
COSM1061545
197 R>Q endometrium STING-associated vasculopathy with onset in infancy [Cosmic, ClinVar] Yes ClinGen
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA3435351
rs144010323
RCV000533005
220 R>H STING-associated vasculopathy with onset in infancy [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs199795457
RCV000652339
CA3435332
253 R>W STING-associated vasculopathy with onset in infancy [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA361479624
RCV000689142
rs1561482476
281 R>Q STING-associated vasculopathy with onset in infancy [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
COSM1229585
CA3435289
rs144683867
RCV000652341
310 R>H large_intestine STING-associated vasculopathy with onset in infancy [Cosmic, ClinVar] Yes ClinGen
cosmic curated
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA3435288
RCV000543070
rs140837017
313 A>T STING-associated vasculopathy with onset in infancy [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSM1061543
rs144606267
RCV000702994
CA3435229
375 R>C endometrium STING-associated vasculopathy with onset in infancy [Cosmic, ClinVar] Yes ClinGen
cosmic curated
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA128747799
rs370381358
RCV000685279
376 T>R STING-associated vasculopathy with onset in infancy [ClinVar] Yes ClinGen
ClinVar
ESP
TOPMed
dbSNP
gnomAD
rs1223377482
CA361482059
2 P>S No ClinGen
TOPMed
gnomAD
rs1581455281
CA361482052
3 H>P No ClinGen
Ensembl
CA361482049
rs1282451703
3 H>Q No ClinGen
TOPMed
gnomAD
CA361482053
rs1490896074
3 H>Y No ClinGen
gnomAD
CA128748276
rs888652949
9 S>F No ClinGen
TOPMed
CA361482005
rs1324808750
10 I>T No ClinGen
TOPMed
CA3435515
rs146423746
11 P>L No ClinGen
ESP
ExAC
TOPMed
rs764938723
CA3435513
12 C>* No ClinGen
ExAC
gnomAD
CA361481988
rs1459518838
13 P>S No ClinGen
Ensembl
CA3435508
rs774780171
17 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA361481951
rs1160723576
19 Q>* No ClinGen
gnomAD
RCV000762166
CA3435506
rs140011636
21 A>T No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1481478083
CA361481929
22 A>D No ClinGen
TOPMed
gnomAD
CA361481928
rs1481478083
22 A>G No ClinGen
TOPMed
gnomAD
CA361481921
rs1485740792
23 L>F No ClinGen
TOPMed
CA3435505
rs773444460
24 V>I No ClinGen
ExAC
gnomAD
rs769981002
CA3435504
25 L>M No ClinGen
ExAC
TOPMed
gnomAD
rs748298483
CA3435503
27 S>G No ClinGen
ExAC
gnomAD
rs1210399029
CA361481903
27 S>N No ClinGen
TOPMed
gnomAD
rs1423922283
CA361481898
28 A>T No ClinGen
TOPMed
CA128748274
rs368407039
29 C>Y No ClinGen
ESP
CA361481875
rs1321304491
31 V>A No ClinGen
gnomAD
rs781125980
CA3435502
32 T>I No ClinGen
ExAC
gnomAD
rs1581455016
CA361481874
32 T>P No ClinGen
Ensembl
rs1414994311
CA361481859
34 W>* No ClinGen
TOPMed
rs1369102847
CA361481843
37 G>R No ClinGen
gnomAD
rs190214239
CA3435500
38 E>K No ClinGen
1000Genomes
ExAC
gnomAD
CA361481798
rs780099523
43 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA3435499
rs780099523
43 T>N No ClinGen
ExAC
TOPMed
gnomAD
CA3435497
rs762935025
45 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA3435498
rs770653748
45 R>W No ClinGen
ExAC
gnomAD
CA128748273
rs1000975914
46 Y>C No ClinGen
Ensembl
rs890114995
CA128748272
47 L>P No ClinGen
TOPMed
CA128748271
rs902177158
48 V>L No ClinGen
TOPMed
gnomAD
CA361481763
rs1581454917
50 H>P No ClinGen
Ensembl
rs1167476128
CA361481742
53 S>F No ClinGen
gnomAD
CA361481738
rs1292788155
54 L>P No ClinGen
TOPMed
CA128748270
rs1013765842
55 Q>K No ClinGen
Ensembl
CA128748269
rs931914513
57 G>A No ClinGen
TOPMed
gnomAD
rs931914513
CA361481720
57 G>V No ClinGen
TOPMed
gnomAD
rs1244103187
CA361481715
58 L>R No ClinGen
gnomAD
CA3435489
rs766819764
62 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs773534567
CA3435487
63 V>A No ClinGen
ExAC
gnomAD
CA361481688
rs763356779
63 V>F No ClinGen
ExAC
gnomAD
rs763356779
CA3435488
63 V>I No ClinGen
ExAC
gnomAD
CA361481682
rs1258312127
64 C>Y No ClinGen
TOPMed
rs768649460
CA3435483
71 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs11554776
CA3435482
71 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3435484
rs768649460
71 R>S No ClinGen
ExAC
TOPMed
gnomAD
COSM482025
rs745727679
CA3435479
74 H>Y kidney [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA361481589
rs1450741219
76 R>S No ClinGen
gnomAD
CA3435462
rs11554775
78 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3435463
rs775712223
78 R>W No ClinGen
ExAC
gnomAD
rs778841468
CA3435460
79 G>D No ClinGen
ExAC
gnomAD
CA3435461
rs745817582
79 G>S No ClinGen
ExAC
gnomAD
CA3435459
rs770660580
82 W>* No ClinGen
ExAC
gnomAD
rs749059030
CA128748261
83 R>K No ClinGen
ExAC
gnomAD
rs749059030
CA3435458
83 R>T No ClinGen
ExAC
gnomAD
CA3435457
rs777336363
86 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs867650202
CA128748259
86 R>W No ClinGen
TOPMed
gnomAD
CA361481528
rs1306838010
87 A>S No ClinGen
gnomAD
rs1224811053
CA361481507
90 G>C No ClinGen
gnomAD
rs1428188237
CA361481492
92 P>H No ClinGen
gnomAD
rs1404440533
CA361481487
93 L>F No ClinGen
gnomAD
CA3435455
rs752269574
94 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA3435454
rs780666926
94 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA3435453
rs373903765
95 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA128748258
rs1033930953
95 R>H No ClinGen
TOPMed
gnomAD
rs373903765
CA3435452
95 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA361481443
rs887937980
97 A>D No ClinGen
Ensembl
rs181566154
CA361481455
97 A>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3435450
rs181566154
RCV000762165
97 A>T No ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA128748257
rs887937980
97 A>V No ClinGen
Ensembl
CA361481436
rs1211691657
98 L>V No ClinGen
Ensembl
rs754202874
CA3435448
101 L>P No ClinGen
ExAC
gnomAD
CA361481388
rs1192578610
102 S>C No ClinGen
gnomAD
rs370253881
CA361481375
103 I>S No ClinGen
gnomAD
CA128748255
rs370253881
103 I>T No ClinGen
gnomAD
rs764292169
CA3435447
103 I>V No ClinGen
ExAC
gnomAD
CA3435446
rs760969680
104 Y>C No ClinGen
ExAC
gnomAD
rs1331780242
CA361481352
106 Y>C No ClinGen
gnomAD
rs1473769146
CA361481354
106 Y>H No ClinGen
gnomAD
CA361481335
rs1261853832
108 S>F No ClinGen
gnomAD
rs1324388679
CA361481322
110 P>R No ClinGen
gnomAD
rs201699999
CA3435443
112 A>V No ClinGen
1000Genomes
ExAC
gnomAD
rs770875890
CA3435441
113 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs769494344
CA3435438
115 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA361481274
rs1358836126
118 T>I No ClinGen
TOPMed
gnomAD
CA128748254
rs944687447
121 L>I No ClinGen
Ensembl
rs1177687924
CA361481246
122 A>G No ClinGen
gnomAD
rs1324345443
CA361481233
125 G>S No ClinGen
TOPMed
CA3435432
rs149528532
127 S>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA361481188
rs1346414429
132 I>N No ClinGen
gnomAD
rs1346414429
CA361481186
132 I>S No ClinGen
gnomAD
CA3435428
rs756483516
133 L>H No ClinGen
ExAC
TOPMed
gnomAD
rs889105527
CA128748230
138 G>A No ClinGen
Ensembl
rs1370637313
CA361481132
140 A>T No ClinGen
TOPMed
gnomAD
rs1050129224
CA128748229
143 E>* No ClinGen
TOPMed
gnomAD
CA361481104
rs1252618649
144 I>T No ClinGen
gnomAD
rs755245286
CA3435406
144 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA361481087
rs1174849472
147 V>A No ClinGen
TOPMed
CA361481057
rs184755982
151 G>E No ClinGen
1000Genomes
gnomAD
CA361481060
rs1394953297
151 G>R No ClinGen
TOPMed
rs184755982
CA128748228
151 G>V No ClinGen
1000Genomes
gnomAD
rs1433372015
CA361481051
152 N>S No ClinGen
TOPMed
rs765137654
CA3435401
157 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA3435402
rs773224678
157 H>R No ClinGen
ExAC
gnomAD
CA3435403
rs762872695
157 H>Y No ClinGen
ExAC
gnomAD
rs11554779
CA3435400
158 G>E No ClinGen
ExAC
gnomAD
rs767904008
CA128748227
160 A>V No ClinGen
Ensembl
CA361480997
rs1253633216
161 W>* No ClinGen
gnomAD
CA3435399
rs776407846
161 W>R No ClinGen
ExAC
gnomAD
rs1561483994
CA361480977
164 Y>D No ClinGen
Ensembl
rs768359336
CA361480971
165 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs768359336
CA3435398
165 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1302149326
CA361480963
166 G>* No ClinGen
TOPMed
gnomAD
CA361480965
rs1302149326
166 G>R No ClinGen
TOPMed
gnomAD
CA3435396
rs532530144
168 L>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs771648197
CA3435395
169 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1043499198
CA128748226
169 R>W No ClinGen
gnomAD
CA3435394
rs745313338
170 L>P No ClinGen
ExAC
gnomAD
CA361480936
rs1581453327
171 I>T No ClinGen
Ensembl
CA128748004
rs891942279
175 L>P No ClinGen
Ensembl
rs775226478
CA3435378
178 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1248505100
CA361480327
180 R>* No ClinGen
gnomAD
CA3435376
rs759123296
180 R>L No ClinGen
ExAC
gnomAD
CA361480326
rs759123296
COSM1061546
180 R>Q endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs773990834
CA3435375
183 N>H No ClinGen
ExAC
TOPMed
gnomAD
rs201277595
CA3435372
183 N>I No ClinGen
ExAC
TOPMed
gnomAD
rs201277595
CA3435374
183 N>T No ClinGen
ExAC
TOPMed
gnomAD
CA3435370
rs747314479
188 N>D No ClinGen
ExAC
gnomAD
CA3435367
rs750561744
191 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA3435368
rs150384595
191 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs201096097
CA3435366
192 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA3435363
rs763892914
197 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA128748002
rs200341894
199 Y>D No ClinGen
gnomAD
rs1581450494
CA361480195
201 L>P No ClinGen
Ensembl
CA3435359
rs375700017
204 L>S No ClinGen
ESP
ExAC
TOPMed
COSM1741902
CA3435358
rs774086578
205 D>N urinary_tract [Cosmic] No ClinGen
cosmic curated
ExAC
rs1236854527
CA361480154
208 V>M No ClinGen
gnomAD
rs1270347607
CA361480137
210 D>E No ClinGen
gnomAD
rs770567786
CA3435356
210 D>G No ClinGen
ExAC
gnomAD
CA361480123
rs1218304113
212 L>R No ClinGen
TOPMed
rs777299936
CA3435354
213 S>I No ClinGen
ExAC
gnomAD
rs1342489613
CA361480121
213 S>R No ClinGen
gnomAD
CA361480112
rs1159689080
214 M>T No ClinGen
TOPMed
gnomAD
rs775385223
CA128747999
215 A>V No ClinGen
Ensembl
CA361480092
rs1379034075
217 P>A No ClinGen
gnomAD
CA361480087
rs1581450379
218 N>H No ClinGen
Ensembl
rs1450226566
CA361480082
218 N>K No ClinGen
TOPMed
gnomAD
CA3435353
rs769013090
218 N>S No ClinGen
ExAC
gnomAD
CA361480071
rs1352824531
220 R>C No ClinGen
gnomAD
CA3435352
rs144010323
220 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA361480062
rs772425191
221 F>L No ClinGen
ExAC
gnomAD
CA361480063
rs772425191
221 F>L No ClinGen
ExAC
gnomAD
CA3435349
rs746097569
223 D>G No ClinGen
ExAC
gnomAD
rs779071530
CA3435348
225 L>Q No ClinGen
ExAC
gnomAD
rs757354596
CA3435347
226 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA128747997
rs983208285
229 T>I No ClinGen
TOPMed
gnomAD
rs78233829
CA3435344
230 G>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs78233829
CA361479995
230 G>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3435345
rs370230460
230 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1131769
RCV000455115
CA3435341
232 H>R No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs767228149
CA3435342
232 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs201670175
CA3435340
233 A>T No ClinGen
1000Genomes
ExAC
gnomAD
CA128747996
rs1003779733
235 I>F No ClinGen
TOPMed
gnomAD
CA361479950
rs1003779733
235 I>V No ClinGen
TOPMed
gnomAD
rs1167471683
CA361479930
237 D>G No ClinGen
TOPMed
rs1291110297
CA361479934
237 D>Y No ClinGen
gnomAD
CA361479924
rs1371859236
238 R>Q No ClinGen
gnomAD
rs1435186136
CA361479906
241 S>R No ClinGen
TOPMed
CA361479881
rs1310757855
244 I>F No ClinGen
TOPMed
gnomAD
CA361479877
rs1277337215
244 I>M No ClinGen
TOPMed
rs1301528991
CA361479856
247 L>P No ClinGen
gnomAD
rs761102285
CA3435335
249 E>D No ClinGen
ExAC
gnomAD
rs772357103
CA361479837
250 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs776001543
CA3435334
250 N>S No ClinGen
ExAC
gnomAD
CA361479840
rs1581450165
250 N>Y No ClinGen
Ensembl
CA361479835
rs1409697347
251 G>R No ClinGen
TOPMed
gnomAD
CA361479821
rs199795457
253 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA361479819
rs148833313
253 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3435331
COSM1433482
rs148833313
253 R>Q large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs774690247
CA3435312
254 A>V No ClinGen
ExAC
TOPMed
CA3435309
rs368419459
255 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1200319844
CA361479797
255 G>V No ClinGen
TOPMed
gnomAD
rs769794754
CA3435306
256 T>I No ClinGen
ExAC
gnomAD
rs773415324
CA3435307
256 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs140038439
CA3435304
262 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs141928874
CA3435303
264 P>S No ClinGen
1000Genomes
ExAC
gnomAD
CA3435302
rs746859252
267 T>N No ClinGen
ExAC
gnomAD
rs1379763592
CA361479702
270 A>S No ClinGen
TOPMed
CA361479692
rs1312454509
271 M>I No ClinGen
gnomAD
rs374460516
CA128747914
273 Q>* No ClinGen
ESP
gnomAD
rs1273442704
CA361479669
274 Y>* No ClinGen
TOPMed
gnomAD
rs758202052
CA3435300
275 S>G No ClinGen
ExAC
gnomAD
CA3435299
rs750077345
281 R>W No ClinGen
ExAC
gnomAD
rs1483629542
CA361479617
282 E>G No ClinGen
TOPMed
gnomAD
CA361479621
rs1199879569
282 E>K No ClinGen
TOPMed
gnomAD
CA3435298
rs778582118
286 E>K No ClinGen
ExAC
gnomAD
CA361479547
rs1203275708
292 C>G No ClinGen
gnomAD
rs7380824
CA3435296
293 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3435297
rs756770138
293 R>W No ClinGen
ExAC
gnomAD
rs1367219835
CA361479513
297 D>V No ClinGen
gnomAD
rs760019959
CA3435294
303 P>A No ClinGen
ExAC
gnomAD
rs752003355
CA3435293
303 P>H No ClinGen
ExAC
TOPMed
gnomAD
rs763335050
CA3435290
310 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA361479392
rs1175527417
315 Q>H No ClinGen
TOPMed
rs1480329051
CA361479398
315 Q>K No ClinGen
TOPMed
CA128747808
rs1024519291
317 P>L No ClinGen
gnomAD
rs1561482019
CA361479364
318 A>S No ClinGen
Ensembl
rs772018436
CA3435260
324 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs200018086
CA3435258
325 L>V No ClinGen
1000Genomes
ExAC
gnomAD
CA3435257
rs201015563
327 Q>K No ClinGen
1000Genomes
ExAC
gnomAD
rs957732368
CA128747807
327 Q>P No ClinGen
TOPMed
rs748947114
CA3435256
329 V>F No ClinGen
ExAC
rs370524913
CA3435254
331 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs777366618
CA3435255
331 R>W No ClinGen
ExAC
gnomAD
CA3435251
rs758939417
334 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1197819878
CA361479263
334 R>W No ClinGen
TOPMed
gnomAD
CA361479259
rs1254726825
335 Q>K No ClinGen
gnomAD
CA3435250
rs750836565
335 Q>R No ClinGen
ExAC
gnomAD
rs1224988149
CA361479249
336 E>G No ClinGen
gnomAD
CA361479253
rs1268179693
336 E>K No ClinGen
TOPMed
gnomAD
CA361479242
rs1581447941
337 E>G No ClinGen
Ensembl
CA361479225
rs1581447927
339 E>G No ClinGen
Ensembl
rs1581447923
CA361479208
341 V>G No ClinGen
Ensembl
rs1423748602
CA361479204
342 T>N No ClinGen
TOPMed
CA3435245
rs545936447
347 K>T No ClinGen
1000Genomes
ExAC
gnomAD
rs1581447861
CA361479116
350 A>P No ClinGen
Ensembl
CA3435244
rs143322684
350 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs977753165
CA128747806
352 P>S No ClinGen
TOPMed
gnomAD
CA361479073
rs1412839696
353 S>I No ClinGen
gnomAD
rs967033688
CA128747805
353 S>R No ClinGen
TOPMed
gnomAD
rs1047355852
CA128747804
354 T>N No ClinGen
TOPMed
gnomAD
rs767416381
CA3435242
356 T>M No ClinGen
ExAC
gnomAD
CA3435238
rs749035321
357 M>T No ClinGen
ExAC
gnomAD
CA3435237
rs141830680
359 Q>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs959223650
CA128747803
360 E>D No ClinGen
TOPMed
CA361478965
rs1272853302
361 P>L No ClinGen
TOPMed
rs749761756
CA128747802
362 E>K No ClinGen
gnomAD
CA361478944
rs1581447770
363 L>F No ClinGen
Ensembl
CA361478904
rs1200672371
366 S>G No ClinGen
gnomAD
CA3435233
rs747724298
367 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA361478883
rs1215030543
368 M>I No ClinGen
TOPMed
rs148097726
CA3435232
368 M>L No ClinGen
ESP
ExAC
gnomAD
rs754379042
CA3435231
370 K>R No ClinGen
ExAC
gnomAD
RCV000788123
CA361478865
rs1581447721
371 P>T No ClinGen
ClinVar
Ensembl
dbSNP
rs1456439839
CA361478849
373 P>R No ClinGen
gnomAD
CA3435228
rs117897081
375 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3435227
rs117897081
375 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA128747801
rs117897081
375 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA128747798
rs370381358
376 T>K No ClinGen
ESP
TOPMed
gnomAD
rs370381358
CA128747800
376 T>M No ClinGen
ESP
TOPMed
gnomAD
CA361478834
rs1368968919
377 D>Y No ClinGen
gnomAD
VAR_081660 284 R>S probable disease-associated variant found in a 9-month-old patient who died following a fever and severe neck abscess without indication of any severe bacterial infection; may affect splicing; constitutively active mutant that promotes the production of type I interferon in absence of cyclic dinucleotide ligand; localizes to the perinuclear region in absence of cyclic dinucleotide ligand [UniProt] No UniProt

1 associated diseases with Q86WV6

[MIM: 615934]: STING-associated vasculopathy, infantile-onset (SAVI)

An autoinflammatory disease characterized by early-onset systemic inflammation and cutaneous vasculopathy, resulting in severe skin lesions. Violaceous, scaling lesions of fingers, toes, nose, cheeks and ears progress to acral necrosis in most of the patients. Some patients have severe interstitial lung disease. {ECO:0000269|PubMed:25029335, ECO:0000269|PubMed:25401470, ECO:0000269|PubMed:30842659}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • An autoinflammatory disease characterized by early-onset systemic inflammation and cutaneous vasculopathy, resulting in severe skin lesions. Violaceous, scaling lesions of fingers, toes, nose, cheeks and ears progress to acral necrosis in most of the patients. Some patients have severe interstitial lung disease. {ECO:0000269|PubMed:25029335, ECO:0000269|PubMed:25401470, ECO:0000269|PubMed:30842659}. Note=The disease is caused by variants affecting the gene represented in this entry.

1 regional properties for Q86WV6

Type Name Position InterPro Accession
domain Stimulator of interferon genes protein, C-terminal 154 - 337 IPR047191

Functions

Description
EC Number
Subcellular Localization
  • Endoplasmic reticulum membrane ; Multi-pass membrane protein
  • Cytoplasm, perinuclear region
  • Endoplasmic reticulum-Golgi intermediate compartment membrane ; Multi-pass membrane protein
  • Golgi apparatus membrane ; Multi-pass membrane protein
  • Cytoplasmic vesicle, autophagosome membrane ; Multi-pass membrane protein
  • Mitochondrion outer membrane ; Multi-pass membrane protein
  • Cell membrane ; Multi-pass membrane protein
  • In response to double-stranded DNA stimulation, translocates from the endoplasmic reticulum through the endoplasmic reticulum-Golgi intermediate compartment and Golgi to post-Golgi vesicles, where the kinase TBK1 is recruited (PubMed:19433799, PubMed:29694889, PubMed:30842653, PubMed:30842659)
  • Upon cGAMP-binding, translocates to the endoplasmic reticulum-Golgi intermediate compartment (ERGIC) in a process that is dependent on COPII vesicles; STING1-containing ERGIC serves as a membrane source for LC3 lipidation, which is a key step in autophagosome biogenesis (PubMed:30842662, PubMed:37832545)
  • Localizes in the lysosome membrane in a TMEM203-dependent manner (By similarity)
PANTHER Family PTHR34339 STIMULATOR OF INTERFERON GENES PROTEIN
PANTHER Subfamily PTHR34339:SF1 STIMULATOR OF INTERFERON GENES PROTEIN
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

16 GO annotations of cellular component

Name Definition
autophagosome A double-membrane-bounded compartment that engulfs endogenous cellular material as well as invading microorganisms to target them to the lytic vacuole/lysosome for degradation as part of macroautophagy.
autophagosome membrane The lipid bilayer surrounding an autophagosome, a double-membrane-bounded vesicle in which endogenous cellular material is sequestered.
cytoplasmic vesicle membrane The lipid bilayer surrounding a cytoplasmic vesicle.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
endoplasmic reticulum membrane The lipid bilayer surrounding the endoplasmic reticulum.
endosome A vacuole to which materials ingested by endocytosis are delivered.
Golgi apparatus A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
integral component of endoplasmic reticulum membrane The component of the endoplasmic reticulum membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
integral component of endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane The component of the ERGIC membrane consisting of the gene products having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
mitochondrial outer membrane The outer, i.e. cytoplasm-facing, lipid bilayer of the mitochondrial envelope.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
perinuclear region of cytoplasm Cytoplasm situated near, or occurring around, the nucleus.
peroxisome A small organelle enclosed by a single membrane, and found in most eukaryotic cells. Contains peroxidases and other enzymes involved in a variety of metabolic processes including free radical detoxification, lipid catabolism and biosynthesis, and hydrogen peroxide metabolism.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
secretory granule membrane The lipid bilayer surrounding a secretory granule.
STING complex A protein dimer containing two STING monomers. It binds cyclic purine di-nucleotides. Activation of the sting complex by 2',5'-3'-5'-cyclic GMP-AMP activates nuclear transcription factor kB (NF-kB) and interferon regulatory factor 3 (IRF3) which then induce transcription of the genes encoding type I IFN and cytokines active in the innate immune response.

7 GO annotations of molecular function

Name Definition
2',3'-cyclic GMP-AMP binding Binding to 2',3' cyclic GMP-AMP (cGAMP) nucleotide, a cyclic purine dinucleotide that consists of AMP and GMP units cyclized via 2',5' and 3',5' linkages.
cyclic-di-GMP binding Binding to cyclic-di-GMP, cyclic dimeric guanosine monophosphate.
identical protein binding Binding to an identical protein or proteins.
protein homodimerization activity Binding to an identical protein to form a homodimer.
protein kinase binding Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.
RNA polymerase II-specific DNA-binding transcription factor binding Binding to a sequence-specific DNA binding RNA polymerase II transcription factor, any of the factors that interact selectively and non-covalently with a specific DNA sequence in order to modulate transcription.
ubiquitin protein ligase binding Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins.

18 GO annotations of biological process

Name Definition
activation of innate immune response Any process that initiates an innate immune response. Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. Examples of this process include activation of the hypersensitive response of Arabidopsis thaliana and activation of any NOD or TLR signaling pathway in vertebrate species.
autophagosome assembly The formation of a double membrane-bounded structure, the autophagosome, that occurs when a specialized membrane sac, called the isolation membrane, starts to enclose a portion of the cytoplasm.
cellular response to exogenous dsRNA Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an exogenous double-stranded RNA stimulus.
cellular response to interferon-beta Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interferon-beta stimulus. Interferon-beta is a type I interferon.
cellular response to organic cyclic compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic cyclic compound stimulus.
defense response to virus Reactions triggered in response to the presence of a virus that act to protect the cell or organism.
innate immune response Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
positive regulation of defense response to virus by host Any host process that results in the promotion of antiviral immune response mechanisms, thereby limiting viral replication.
positive regulation of DNA-binding transcription factor activity Any process that activates or increases the frequency, rate or extent of activity of a transcription factor, any factor involved in the initiation or regulation of transcription.
positive regulation of interferon-beta production Any process that activates or increases the frequency, rate, or extent of interferon-beta production.
positive regulation of macroautophagy Any process, such as recognition of nutrient depletion, that activates or increases the rate of macroautophagy to bring cytosolic macromolecules to the vacuole/lysosome for degradation.
positive regulation of protein binding Any process that activates or increases the frequency, rate or extent of protein binding.
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.
positive regulation of type I interferon production Any process that activates or increases the frequency, rate, or extent of type I interferon production. Type I interferons include the interferon-alpha, beta, delta, episilon, zeta, kappa, tau, and omega gene families.
positive regulation of type I interferon-mediated signaling pathway Any process that increases the rate, frequency or extent of a type I interferon-mediated signaling pathway.
protein complex oligomerization The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of component monomers; protein oligomers may be composed of different or identical monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer.
regulation of inflammatory response Any process that modulates the frequency, rate or extent of the inflammatory response, the immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents.
reticulophagy The selective autohagy process in which parts of the endoplasmic reticulum are loaded into autophagosomes, delivered to the vacuole, and degraded in response to changing cellular conditions.

5 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q2KI99 STING1 Stimulator of interferon genes protein Bos taurus (Bovine) SS
E1C7U0 STING1 Stimulator of interferon genes protein Gallus gallus (Chicken) SS
Q3TBT3 Sting1 Stimulator of interferon genes protein Mus musculus (Mouse) SS
B8XX90 STING1 Stimulator of interferon genes protein Sus scrofa (Pig) SS
F1M391 Sting1 Stimulator of interferon genes protein Rattus norvegicus (Rat) SS
10 20 30 40 50 60
MPHSSLHPSI PCPRGHGAQK AALVLLSACL VTLWGLGEPP EHTLRYLVLH LASLQLGLLL
70 80 90 100 110 120
NGVCSLAEEL RHIHSRYRGS YWRTVRACLG CPLRRGALLL LSIYFYYSLP NAVGPPFTWM
130 140 150 160 170 180
LALLGLSQAL NILLGLKGLA PAEISAVCEK GNFNVAHGLA WSYYIGYLRL ILPELQARIR
190 200 210 220 230 240
TYNQHYNNLL RGAVSQRLYI LLPLDCGVPD NLSMADPNIR FLDKLPQQTG DHAGIKDRVY
250 260 270 280 290 300
SNSIYELLEN GQRAGTCVLE YATPLQTLFA MSQYSQAGFS REDRLEQAKL FCRTLEDILA
310 320 330 340 350 360
DAPESQNNCR LIAYQEPADD SSFSLSQEVL RHLRQEEKEE VTVGSLKTSA VPSTSTMSQE
370
PELLISGMEK PLPLRTDFS