Descriptions

Gasdermin proteins are a pore-forming protein causing membrane permeabilization and pyroptosis, and functions downstream of the inflammatory caspases. In human Gasdermin-D protein, its C-terminal gasdermin domain adopts an intramolecular complex with the N-terminal domain, which inhibits the activation of the N-terminal gasdermin domain. The N- and C-terminal gasdermin domains of GSDMC can interact with each other, implying a similar autoinhibitory mechanism.

Autoinhibitory domains (AIDs)

Target domain

4-240 (N-terminal gasdermin domain)

Relief mechanism

Cleavage

Assay

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for Q9BYG8

Entry ID Method Resolution Chain Position Source
AF-Q9BYG8-F1 Predicted AlphaFoldDB

471 variants for Q9BYG8

Variant ID(s) Position Change Description Diseaes Association Provenance
rs762258169
CA4876221
2 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs1266534046
CA372187782
2 P>R No ClinGen
TOPMed
CA4876222
rs762258169
2 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs1195131557
CA372187773
3 S>A No ClinGen
TOPMed
CA185370298
rs1013729334
4 M>I No ClinGen
TOPMed
gnomAD
rs115551816
CA4876220
4 M>L No ClinGen
1000Genomes
ESP
ExAC
gnomAD
rs149535689
CA4876218
4 M>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs115551816
CA4876219
4 M>V No ClinGen
1000Genomes
ESP
ExAC
gnomAD
rs775958161
CA372187750
5 L>M No ClinGen
ExAC
TOPMed
gnomAD
rs775958161
CA4876217
5 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs769905738
CA372187729
6 E>* No ClinGen
ExAC
TOPMed
gnomAD
CA185370265
rs769905738
6 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs769905738
CA4876216
6 E>Q No ClinGen
ExAC
TOPMed
gnomAD
COSM1096071
rs369692449
CA4876215
7 R>C endometrium [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs369692449
CA372187711
7 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4876214
rs771002121
COSM1096070
7 R>H central_nervous_system endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs771002121
CA4876213
7 R>P No ClinGen
ExAC
gnomAD
CA372187713
rs369692449
7 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1386919911
CA372187690
8 I>N No ClinGen
gnomAD
rs1183981323
CA372187614
13 V>L No ClinGen
gnomAD
CA185370227
rs138109016
14 K>E No ClinGen
ESP
TOPMed
gnomAD
rs138109016
CA372187600
14 K>Q No ClinGen
ESP
TOPMed
gnomAD
CA4876212
rs200714543
15 E>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA372187588
rs1382803314
15 E>K No ClinGen
gnomAD
rs771977895
CA4876210
16 I>T No ClinGen
ExAC
gnomAD
rs777495083
CA4876211
16 I>V No ClinGen
ExAC
gnomAD
CA372187545
rs1361846237
18 S>G No ClinGen
TOPMed
gnomAD
CA185370200
rs753588428
18 S>N No ClinGen
Ensembl
rs765627400
CA4876208
21 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs368043349
CA4876206
23 P>L No ClinGen
ESP
ExAC
gnomAD
rs10090835
VAR_028138
CA4876207
23 P>S No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs10090835
CA372187483
23 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1392449481
CA372187474
24 V>L No ClinGen
gnomAD
CA372187458
rs1386166468
25 K>R No ClinGen
gnomAD
rs568650364
CA4876205
26 Y>C No ClinGen
1000Genomes
ExAC
gnomAD
CA4876203
rs750079168
28 L>F No ClinGen
ExAC
gnomAD
CA372187417
rs1407386905
28 L>S No ClinGen
gnomAD
CA4876202
rs764494837
29 S>N No ClinGen
ExAC
gnomAD
CA4876201
rs138288375
30 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4876200
rs753238485
31 T>I No ClinGen
ExAC
gnomAD
CA4876199
rs371192399
33 L>S No ClinGen
ESP
ExAC
gnomAD
COSM1736347
rs550446533
CA4876197
34 R>C central_nervous_system breast [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs550446533
CA4876198
34 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
COSM604170
CA185370051
rs910419404
34 R>H lung [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA372187328
rs1175572380
35 Q>P No ClinGen
gnomAD
CA372187313
rs1218238517
36 F>L No ClinGen
TOPMed
rs760862584
CA4876195
36 F>L No ClinGen
ExAC
gnomAD
rs1221995002
CA372187296
37 V>I No ClinGen
gnomAD
CA372187279
rs1563813538
38 I>T No ClinGen
Ensembl
CA4876194
rs772031336
39 L>V No ClinGen
ExAC
TOPMed
COSM1643503
CA4876192
rs112465762
40 R>* stomach [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs754298748
CA4876191
COSM1096069
40 R>Q kidney endometrium skin [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs200005605
CA4876189
42 K>R No ClinGen
ExAC
gnomAD
CA4876188
rs200005605
42 K>T No ClinGen
ExAC
gnomAD
CA4876187
rs755630735
43 K>R No ClinGen
ExAC
gnomAD
rs750087595
CA4876185
44 D>G No ClinGen
ExAC
gnomAD
rs1490410688
CA372187179
45 S>T No ClinGen
gnomAD
rs1303435675
CA372187171
45 S>Y No ClinGen
gnomAD
CA4876184
rs140640562
46 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4876182
rs115362838
46 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4876183
rs115362838
46 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs765739292
CA4876181
COSM3834048
48 S>L breast [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA4876179
rs760029934
51 E>G No ClinGen
ExAC
gnomAD
rs754354297
CA4876178
52 Q>P No ClinGen
ExAC
gnomAD
CA4876175
rs760776030
53 S>C No ClinGen
ExAC
gnomAD
CA4876177
rs368643866
53 S>T No ClinGen
ESP
ExAC
gnomAD
CA4876173
rs143364779
54 D>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4876171
rs773117841
54 D>E No ClinGen
ExAC
gnomAD
rs143364779
CA4876172
54 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs35919954
CA4876174
RCV000889701
54 D>N No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA4876170
rs768564093
55 Y>C No ClinGen
ExAC
gnomAD
rs961715187
CA185369764
57 P>L No ClinGen
Ensembl
CA372186998
rs749235759
59 E>A No ClinGen
ExAC
TOPMed
gnomAD
CA372187004
rs1380081667
59 E>K No ClinGen
TOPMed
CA4876169
rs749235759
59 E>V No ClinGen
ExAC
TOPMed
gnomAD
rs1242192052
CA372186977
60 F>L No ClinGen
TOPMed
CA372186981
rs1319926826
60 F>Y No ClinGen
TOPMed
rs1272397471
CA372186969
61 S>P No ClinGen
TOPMed
gnomAD
rs149214871
CA4876168
62 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs115142760
CA372186940
63 N>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4876167
rs115142760
63 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1325125520
CA372186866
68 P>L No ClinGen
gnomAD
rs1181698984
CA372186873
68 P>T No ClinGen
TOPMed
rs1442125447
CA372186853
69 S>N No ClinGen
TOPMed
CA372186822
rs559980444
73 L>I No ClinGen
1000Genomes
ExAC
gnomAD
rs745375697
CA4876144
74 E>D No ClinGen
ExAC
gnomAD
CA4876145
rs769715058
74 E>G No ClinGen
ExAC
CA4876143
rs776192121
76 V>I No ClinGen
ExAC
gnomAD
rs542215717
CA4876142
80 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA372186369
rs1375926726
80 P>S No ClinGen
gnomAD
rs1200333992
CA372186354
81 F>S No ClinGen
gnomAD
rs1388773073
CA372186345
82 H>Y No ClinGen
gnomAD
CA4876139
rs755328553
84 S>N No ClinGen
ExAC
gnomAD
rs1445547755
CA372186298
84 S>R No ClinGen
gnomAD
rs1345821216
CA372186291
85 D>G No ClinGen
TOPMed
CA372186283
rs1243105803
86 I>V No ClinGen
gnomAD
rs141144013
CA4876138
87 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1182234537
CA372186273
87 M>V No ClinGen
gnomAD
CA4876137
rs756573853
88 I>N No ClinGen
ExAC
gnomAD
CA4876136
rs756573853
88 I>S No ClinGen
ExAC
gnomAD
rs750958886
CA4876135
91 H>D No ClinGen
ExAC
TOPMed
gnomAD
CA4876133
rs757383851
93 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs937569829
CA185368440
95 M>I No ClinGen
TOPMed
gnomAD
rs79403769
CA4876131
96 G>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA372186123
rs79403769
96 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4876132
rs79403769
96 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA185368397
rs954188634
97 V>L No ClinGen
TOPMed
CA372186114
rs954188634
97 V>M No ClinGen
TOPMed
rs762673763
CA372186048
103 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs762673763
CA4876130
103 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA372186032
rs1197562132
105 V>A No ClinGen
TOPMed
rs1329612348
CA372186025
106 S>L No ClinGen
gnomAD
CA372186022
rs1563811969
107 G>W No ClinGen
Ensembl
CA372186013
rs1202630552
108 E>V No ClinGen
TOPMed
gnomAD
rs113659517
CA372186007
109 A>D No ClinGen
gnomAD
rs191844570
CA4876126
109 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA185368337
rs113659517
109 A>V No ClinGen
gnomAD
rs776529955
CA4876124
112 D>E No ClinGen
ExAC
gnomAD
CA4876125
rs759529407
112 D>G No ClinGen
ExAC
gnomAD
rs759529407
CA372185990
112 D>V No ClinGen
ExAC
gnomAD
CA372185975
rs1196809199
114 G>V No ClinGen
TOPMed
gnomAD
rs763298619
CA372185967
115 C>* No ClinGen
ExAC
TOPMed
gnomAD
rs544555954
CA4876120
116 S>F No ClinGen
1000Genomes
ExAC
gnomAD
rs544555954
CA4876121
116 S>Y No ClinGen
1000Genomes
ExAC
gnomAD
CA372185950
rs1482417091
117 L>F No ClinGen
gnomAD
rs373440506
CA4876117
COSM1096066
118 E>K endometrium [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA372185932
rs1586615234
119 F>V No ClinGen
Ensembl
CA372185915
rs1586615215
121 I>S No ClinGen
Ensembl
CA185368279
rs577510947
122 V>I No ClinGen
1000Genomes
rs1403757250
CA372185892
125 P>A No ClinGen
TOPMed
rs144307746
CA4876116
126 S>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4876115
rs781751895
127 P>A No ClinGen
ExAC
gnomAD
rs1341930421
CA372185880
127 P>R No ClinGen
TOPMed
rs781751895
CA372185881
127 P>S No ClinGen
ExAC
gnomAD
CA185368243
rs867165355
129 L>V No ClinGen
TOPMed
CA372185857
rs1280000605
131 D>N No ClinGen
gnomAD
CA372185836
rs1238462212
133 Q>R No ClinGen
gnomAD
rs369223774
CA185368231
135 R>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs369223774
CA4876114
135 R>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1480457639
CA372184377
136 K>* No ClinGen
gnomAD
rs1424069164
CA372184362
138 L>W No ClinGen
gnomAD
rs1223314292
CA372184349
140 P>T No ClinGen
TOPMed
CA372184344
rs1189052687
141 E>Q No ClinGen
gnomAD
CA372184257
rs1247711510
147 E>D No ClinGen
TOPMed
rs114211637
CA4876091
149 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4876089
rs754787261
149 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA4876090
rs114211637
149 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_028139
CA4876088
rs16904151
RCV000961895
150 R>K No ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA4876087
rs766304265
154 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA185358664
rs766304265
154 N>T No ClinGen
ExAC
TOPMed
gnomAD
rs570433175
CA372184142
156 Y>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs148475316
CA4876085
157 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4876083
rs761196170
162 V>G No ClinGen
ExAC
gnomAD
rs774076693
CA372184069
163 E>A No ClinGen
ExAC
gnomAD
rs774076693
CA4876082
163 E>G No ClinGen
ExAC
gnomAD
rs1206126466
CA372184051
165 I>F No ClinGen
gnomAD
rs1045544002
CA185358608
165 I>N No ClinGen
Ensembl
CA372184026
rs1452758944
166 N>K No ClinGen
gnomAD
rs763783378
CA4876081
167 N>D No ClinGen
ExAC
gnomAD
rs201826548
CA4876080
167 N>S No ClinGen
ExAC
gnomAD
CA372184007
rs1411296604
168 T>A No ClinGen
gnomAD
rs1419715780
CA372183996
169 V>M No ClinGen
gnomAD
CA372183983
rs1323587334
170 L>M No ClinGen
TOPMed
rs1367326536
CA372183966
171 Y>C No ClinGen
TOPMed
CA4876078
COSM229115
rs375510820
172 D>N skin [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs1184102986
CA372183913
174 S>T No ClinGen
gnomAD
rs747603724
CA4876077
177 N>D No ClinGen
ExAC
gnomAD
CA372183867
rs1226724057
177 N>T No ClinGen
TOPMed
gnomAD
rs1235800630
CA372183847
178 I>T No ClinGen
gnomAD
CA4876076
rs773564089
179 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs772222662
CA4876075
182 I>T No ClinGen
ExAC
gnomAD
CA372183781
rs201944967
183 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs201944967
CA4876074
183 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA185358549
rs934581138
185 W>R No ClinGen
Ensembl
CA372183722
rs1316416759
187 T>A No ClinGen
gnomAD
CA372183705
rs1395929306
188 Y>C No ClinGen
gnomAD
rs749507712
CA4876071
189 G>D No ClinGen
ExAC
gnomAD
CA372183693
rs1300580183
189 G>S No ClinGen
TOPMed
gnomAD
rs780217662
CA4876052
191 G>V No ClinGen
ExAC
gnomAD
CA372183305
rs1401985324
192 Q>P No ClinGen
gnomAD
rs1586594516
CA372183293
193 G>R No ClinGen
Ensembl
rs755966363
CA4876051
195 G>R No ClinGen
ExAC
CA4876050
rs73406822
196 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs374508236
CA4876049
197 S>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4876048
rs149293328
197 S>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA185351524
rs374508236
197 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA185351513
rs149293328
197 S>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs954409907
CA185351507
199 R>G No ClinGen
TOPMed
rs1209911584
CA372183155
203 K>R No ClinGen
TOPMed
rs200990251
CA372183141
204 A>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
COSM3317173
CA4876046
rs200990251
204 A>V pancreas [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA372183098
rs1225977236
207 L>R No ClinGen
gnomAD
rs975555344
CA185351493
209 K>Q No ClinGen
TOPMed
CA372183058
COSM1187614
rs1347014620
210 G>D lung [Cosmic] No ClinGen
cosmic curated
gnomAD
CA4876041
rs761111935
211 M>I No ClinGen
ExAC
gnomAD
rs764930991
CA4876042
211 M>V No ClinGen
ExAC
gnomAD
rs1290606624
CA372183022
212 V>A No ClinGen
gnomAD
rs750683131
CA372183026
212 V>L No ClinGen
ExAC
gnomAD
rs750683131
CA4876040
212 V>M No ClinGen
ExAC
gnomAD
rs1157054387
CA372182898
220 L>R No ClinGen
gnomAD
CA185351449
rs900292984
222 I>V No ClinGen
TOPMed
CA372182851
rs1432815651
224 E>K No ClinGen
TOPMed
CA4876037
rs201872844
225 K>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4876016
rs752090078
226 A>D No ClinGen
ExAC
gnomAD
rs768762583
CA4876036
226 A>P No ClinGen
ExAC
gnomAD
rs768762583
CA372182815
226 A>T No ClinGen
ExAC
gnomAD
rs1237294987
CA372182110
227 I>M No ClinGen
TOPMed
rs1346309359
CA372182077
229 I>N No ClinGen
TOPMed
rs763026962
CA4876014
230 S>L No ClinGen
ExAC
gnomAD
CA372182010
COSM1096064
rs1308814649
231 D>G endometrium [Cosmic] No ClinGen
cosmic curated
gnomAD
rs775614968
CA4876013
231 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA185350479
rs933934327
232 D>G No ClinGen
Ensembl
rs1459099348
CA372181961
233 D>N No ClinGen
TOPMed
rs949715371
CA185350458
234 E>K No ClinGen
TOPMed
gnomAD
rs949715371
CA372181932
234 E>Q No ClinGen
TOPMed
gnomAD
rs1388675095
CA372181901
235 Q>L No ClinGen
gnomAD
rs1388675095
CA372181898
235 Q>R No ClinGen
gnomAD
CA185350450
rs915633900
COSM176724
236 R>I large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs769904707
CA4876012
237 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs759730605
CA4876011
240 D>H No ClinGen
ExAC
gnomAD
CA372180155
rs753181335
243 E>* No ClinGen
ExAC
gnomAD
rs753181335
CA4875994
COSM281572
243 E>K large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1486853126
CA372180136
244 I>F No ClinGen
TOPMed
gnomAD
CA372180138
rs1486853126
244 I>V No ClinGen
TOPMed
gnomAD
rs759624672
CA4875992
246 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1478901216
CA372180067
247 M>I No ClinGen
TOPMed
rs776743103
CA4875991
250 Y>F No ClinGen
ExAC
gnomAD
CA4875990
rs377444902
251 C>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs138900124
CA4875989
252 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs138900124
CA185346791
252 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs115622630
CA185346780
253 A>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4875988
rs773205428
253 A>S No ClinGen
ExAC
gnomAD
rs115622630
CA4875987
253 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs986247138
CA185346773
254 R>G No ClinGen
Ensembl
CA4875984
rs768081301
255 S>N No ClinGen
ExAC
gnomAD
CA372179916
rs1392710438
255 S>R No ClinGen
TOPMed
CA185346761
rs200006561
256 E>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs373684856
CA4875983
256 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1294280324
CA372179885
257 G>R No ClinGen
gnomAD
rs1343290547
CA372179875
257 G>V No ClinGen
TOPMed
rs150792538
CA4875980
260 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1362645153
CA372179757
264 T>A No ClinGen
TOPMed
gnomAD
CA372179739
rs1245908403
265 I>F No ClinGen
gnomAD
CA372179717
rs1196743016
265 I>M No ClinGen
gnomAD
CA4875975
rs765728176
269 L>H No ClinGen
ExAC
TOPMed
gnomAD
CA372179659
rs765728176
269 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA4875974
rs141073989
271 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA372179609
rs766559947
272 A>D No ClinGen
ExAC
TOPMed
gnomAD
rs753886861
CA4875973
272 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA372179612
rs753886861
272 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA4875972
rs766559947
272 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs773542987
CA4875970
273 S>L No ClinGen
ExAC
gnomAD
rs1433244828
CA372179503
277 M>T No ClinGen
gnomAD
rs1425647326
CA372179470
278 K>N No ClinGen
TOPMed
gnomAD
CA4875967
rs574276492
279 L>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs373460186
CA185346717
281 P>T No ClinGen
gnomAD
CA372178641
rs1358255154
283 L>P No ClinGen
gnomAD
rs368850633
CA4875953
285 L>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1167944979
CA372178618
286 T>A No ClinGen
gnomAD
CA372178614
rs1447594610
286 T>I No ClinGen
gnomAD
rs1167944979
CA372178617
286 T>S No ClinGen
gnomAD
CA4875952
rs780326163
287 Q>R No ClinGen
ExAC
gnomAD
rs1272193294
CA372178590
289 F>L No ClinGen
TOPMed
gnomAD
CA4875951
rs529616613
291 S>G No ClinGen
1000Genomes
ExAC
gnomAD
CA372178576
rs529616613
291 S>R No ClinGen
1000Genomes
ExAC
gnomAD
CA4875948
rs373573200
292 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs373573200
CA4875949
292 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs751300382
CA4875947
294 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA4875923
rs770331372
298 E>* No ClinGen
ExAC
TOPMed
gnomAD
CA4875921
COSM1096062
rs770331372
298 E>K large_intestine endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs770331372
CA4875922
298 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA4875920
rs760421413
299 Q>E No ClinGen
ExAC
gnomAD
CA185346308
rs142858365
300 V>I No ClinGen
1000Genomes
CA4875919
rs772705468
301 H>Y No ClinGen
ExAC
gnomAD
rs201857986
CA185346302
304 P>Q No ClinGen
Ensembl
CA372178472
rs1359308228
305 V>A No ClinGen
Ensembl
CA4875894
rs771066017
306 G>E No ClinGen
ExAC
gnomAD
rs369317212
CA4875893
307 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373058778
CA4875892
308 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1420288016
CA372178442
309 E>Q No ClinGen
TOPMed
CA185346067
rs369920568
311 P>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4875890
rs369920568
311 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs369920568
CA4875889
311 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA372178403
rs997741728
311 P>S No ClinGen
gnomAD
rs997741728
CA185346083
311 P>T No ClinGen
gnomAD
CA4875888
rs778726000
312 F>L No ClinGen
ExAC
TOPMed
rs754732316
CA4875886
312 F>L No ClinGen
ExAC
gnomAD
CA185345610
rs959369231
317 K>R No ClinGen
Ensembl
CA4875861
rs756788046
320 Q>* No ClinGen
ExAC
gnomAD
CA185345606
rs756788046
320 Q>E No ClinGen
ExAC
gnomAD
CA4875860
rs751281101
321 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs751281101
CA372178305
321 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs1455783624
CA372178303
322 E>K No ClinGen
TOPMed
rs1159691987
CA372178285
324 F>C No ClinGen
TOPMed
rs759986457
CA4875858
325 Q>* No ClinGen
ExAC
gnomAD
CA4875855
rs761139010
327 I>M No ClinGen
ExAC
gnomAD
rs766757505
CA4875856
327 I>T No ClinGen
ExAC
gnomAD
CA4875857
rs374611855
327 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA185345572
rs966800345
330 L>V No ClinGen
gnomAD
CA185345553
rs149922852
331 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs149922852
CA4875853
331 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs369892614
CA4875852
332 Q>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs774567484
CA4875851
332 Q>R No ClinGen
ExAC
CA4875849
rs139154539
337 V>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4875848
rs139154539
337 V>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA372178207
rs1211927289
337 V>I No ClinGen
TOPMed
gnomAD
CA4875847
rs769609242
338 Q>* No ClinGen
ExAC
gnomAD
CA4875845
rs781227916
339 D>N No ClinGen
ExAC
gnomAD
CA4875846
rs781227916
339 D>Y No ClinGen
ExAC
gnomAD
rs1010063841
CA185345521
340 V>I No ClinGen
gnomAD
rs756843173
CA4875844
341 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA4875843
rs76700535
343 Y>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4875842
rs777421063
344 S>R No ClinGen
ExAC
gnomAD
CA372178154
rs1324441287
345 I>V No ClinGen
gnomAD
rs1032891525
CA185345490
347 A>D No ClinGen
Ensembl
rs373501715
CA4875839
348 M>I No ClinGen
ESP
ExAC
gnomAD
CA4875840
rs749257738
348 M>T No ClinGen
ExAC
gnomAD
rs1244811507
CA372178137
348 M>V No ClinGen
TOPMed
rs761056719
CA4875838
349 L>V No ClinGen
ExAC
gnomAD
CA4875833
rs761884305
354 A>P No ClinGen
ExAC
gnomAD
rs761884305
CA372178081
354 A>T No ClinGen
ExAC
gnomAD
rs1466364878
CA372178074
354 A>V No ClinGen
gnomAD
rs868293824
CA185345453
357 D>N No ClinGen
Ensembl
CA185345447
rs139994074
359 M>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4875831
rs139994074
359 M>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA372178004
rs1201432668
360 N>K No ClinGen
gnomAD
CA4875830
rs763132646
360 N>S No ClinGen
ExAC
gnomAD
rs1023788010
CA185345422
360 N>Y No ClinGen
TOPMed
gnomAD
rs759674281
CA4875807
362 L>M No ClinGen
ExAC
gnomAD
CA4875805
rs770829453
364 L>S No ClinGen
ExAC
gnomAD
rs746987965
CA4875804
365 D>E No ClinGen
ExAC
gnomAD
CA372177897
rs1451521911
365 D>V No ClinGen
TOPMed
CA4875803
rs773248235
366 S>I No ClinGen
ExAC
TOPMed
gnomAD
CA372177887
rs773248235
366 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs771500874
CA4875802
368 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA372177871
rs1182455681
368 G>S No ClinGen
gnomAD
CA372177847
rs1184826791
370 L>S No ClinGen
gnomAD
rs1465654652
CA372177849
370 L>V No ClinGen
TOPMed
CA4875801
rs146298406
371 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1444716047
CA372177831
372 G>D No ClinGen
TOPMed
gnomAD
rs113476200
CA185345133
374 G>D No ClinGen
Ensembl
rs778432458
COSM604173
CA4875800
374 G>R lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA372177819
rs1163898067
375 G>S No ClinGen
TOPMed
CA4875797
rs781584471
376 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA4875798
rs748924722
376 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA185345119
rs756471596
377 I>T No ClinGen
TOPMed
CA4875796
rs757586374
377 I>V No ClinGen
ExAC
CA372177789
rs1319388204
380 K>E No ClinGen
TOPMed
CA372177772
rs1333727142
382 Q>H No ClinGen
TOPMed
gnomAD
rs750869353
CA185345110
382 Q>K No ClinGen
Ensembl
CA372177775
rs1205272477
382 Q>P No ClinGen
gnomAD
rs1289205515
CA372177768
383 Q>K No ClinGen
gnomAD
rs764604422
CA4875794
384 D>H No ClinGen
ExAC
gnomAD
rs764604422
CA4875793
384 D>Y No ClinGen
ExAC
gnomAD
CA4875792
rs758413625
385 S>* No ClinGen
ExAC
TOPMed
gnomAD
CA185345070
rs371390275
386 N>D No ClinGen
ESP
rs1297609721
CA372177733
388 A>E No ClinGen
gnomAD
rs765220246
CA4875790
389 W>* No ClinGen
ExAC
gnomAD
rs899351019
CA185345030
389 W>C No ClinGen
gnomAD
rs762161458
CA4875789
392 P>S No ClinGen
ExAC
gnomAD
rs1286979850
CA372177696
393 K>E No ClinGen
TOPMed
CA372177679
rs1586572888
394 D>A No ClinGen
Ensembl
rs766313314
CA4875787
394 D>N No ClinGen
ExAC
gnomAD
CA4875786
rs760827512
398 Y>* No ClinGen
ExAC
gnomAD
rs1175776431
CA372177591
402 A>G No ClinGen
gnomAD
rs760493267
CA4875785
403 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA372177561
rs1435016137
404 M>I No ClinGen
Ensembl
rs773291879
CA4875784
404 M>R No ClinGen
ExAC
TOPMed
gnomAD
CA185344993
rs958243335
404 M>V No ClinGen
TOPMed
CA4875756
rs748724070
405 V>A No ClinGen
ExAC
gnomAD
rs771975440
CA4875783
405 V>L No ClinGen
ExAC
gnomAD
CA372177475
rs751797551
406 L>P No ClinGen
gnomAD
CA185344721
rs751797551
406 L>Q No ClinGen
gnomAD
rs779244141
CA4875755
407 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA185344714
rs755118406
408 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA185344694
rs374279128
411 H>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4875752
rs374279128
411 H>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1484150576
CA372177406
411 H>Y No ClinGen
TOPMed
gnomAD
COSM1454829
CA4875750
rs114264223
412 D>N large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs756962115
CA4875748
415 A>D No ClinGen
ExAC
TOPMed
gnomAD
rs868342635
CA185344680
416 C>Y No ClinGen
Ensembl
rs1325904597
CA372177336
417 S>C No ClinGen
gnomAD
rs1228291009
CA372177340
417 S>T No ClinGen
gnomAD
CA372177327
rs1187384840
418 M>K No ClinGen
TOPMed
rs751537547
CA4875747
418 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA372177287
rs1367238168
421 R>K No ClinGen
TOPMed
CA4875746
rs763952862
422 I>T No ClinGen
ExAC
gnomAD
CA372177259
rs1563785298
424 L>F No ClinGen
Ensembl
rs550680319
CA372177236
426 Q>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs550680319
CA4875744
426 Q>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs764706903
CA4875743
428 E>* No ClinGen
ExAC
gnomAD
rs764706903
CA372177209
428 E>Q No ClinGen
ExAC
gnomAD
rs370978892
CA4875741
429 L>P No ClinGen
ESP
ExAC
gnomAD
CA4875742
rs759275225
429 L>V No ClinGen
ExAC
gnomAD
rs1437191534
CA372177152
430 V>I No ClinGen
gnomAD
CA4875720
rs550396087
432 S>N No ClinGen
1000Genomes
ExAC
gnomAD
CA4875719
rs532245909
433 I>T No ClinGen
1000Genomes
ExAC
gnomAD
CA4875718
rs776098748
434 L>M No ClinGen
ExAC
gnomAD
CA372177109
rs1272850493
436 P>L No ClinGen
gnomAD
rs1358111388
CA372177112
436 P>S No ClinGen
TOPMed
rs770014882
CA4875717
437 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA4875716
rs569568081
439 R>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs34385086
CA4875715
440 Y>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1238718560
CA372177083
440 Y>C No ClinGen
gnomAD
CA372177086
rs1280516391
440 Y>H No ClinGen
gnomAD
CA4875713
rs149748731
441 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA372177077
rs149748731
441 P>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1047596087
CA185344062
441 P>S No ClinGen
Ensembl
rs897671513
COSM234247
CA185344052
442 W>* skin [Cosmic] No ClinGen
cosmic curated
gnomAD
rs897671513
CA372177072
442 W>L No ClinGen
gnomAD
CA4875711
rs758152327
443 S>G No ClinGen
ExAC
gnomAD
CA185344026
rs200964859
443 S>N No ClinGen
gnomAD
CA372177039
rs1158967038
447 T>N No ClinGen
TOPMed
gnomAD
rs562110298
CA185344015
447 T>P No ClinGen
Ensembl
CA4875709
rs778760906
450 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1195655500
CA372177009
452 L>I No ClinGen
gnomAD
CA4875707
rs753360215
454 A>T No ClinGen
ExAC
gnomAD
CA372176985
rs765903577
456 L>F No ClinGen
ExAC
gnomAD
CA4875706
rs765903577
456 L>I No ClinGen
ExAC
gnomAD
CA185343999
rs943573369
458 S>G No ClinGen
TOPMed
gnomAD
CA4875705
rs760297354
458 S>N No ClinGen
ExAC
gnomAD
CA185343996
rs926525412
460 G>R No ClinGen
Ensembl
rs750072260
CA4875704
462 A>T No ClinGen
ExAC
gnomAD
rs1204954355
CA372176943
462 A>V No ClinGen
gnomAD
rs1483378132
CA372176936
463 I>T No ClinGen
TOPMed
CA4875702
rs202184744
463 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs776155660
CA4875701
464 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA4875700
rs770270429
465 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs1370837740
CA372176921
465 Y>N No ClinGen
gnomAD
CA4875698
rs776622434
466 G>A No ClinGen
ExAC
gnomAD
rs369201045
CA4875699
466 G>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1399955907
CA372176892
467 L>P No ClinGen
gnomAD
CA372176881
rs1432332922
469 E>Q No ClinGen
TOPMed
rs1406975028
CA372176862
470 E>D No ClinGen
gnomAD
CA372176839
rs1175211774
472 G>D No ClinGen
gnomAD
rs1563784114
CA372176833
473 L>F No ClinGen
Ensembl
CA4875694
rs771864086
474 R>S No ClinGen
ExAC
gnomAD
rs754932128
CA4875691
475 M>I No ClinGen
ExAC
gnomAD
rs4144738
CA4875692
VAR_028140
475 M>T No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs747867390
CA4875693
475 M>V No ClinGen
ExAC
gnomAD
CA372176767
rs1391375173
478 D>E No ClinGen
TOPMed
CA372176772
rs1371701310
478 D>G No ClinGen
TOPMed
CA4875690
rs753795099
479 N>D No ClinGen
ExAC
gnomAD
rs1586569777
CA372176748
479 N>K No ClinGen
Ensembl
rs755612165
CA4875688
480 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs755612165
CA4875689
480 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs750123614
CA4875687
481 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs150668828
CA185343917
COSM107630
482 S>L skin [Cosmic] No ClinGen
cosmic curated
Ensembl
rs374835768
CA4875685
484 W>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs919279559
CA372176638
485 D>E No ClinGen
TOPMed
gnomAD
CA4875684
rs753169677
485 D>N No ClinGen
ExAC
gnomAD
rs1231505866
CA372176629
486 V>I No ClinGen
gnomAD
CA372176537
rs1363439926
490 M>V No ClinGen
gnomAD
CA4875683
rs115019901
491 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA372176499
rs115019901
491 P>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA372176504
rs201817415
491 P>S No ClinGen
TOPMed
gnomAD
CA185343873
rs201817415
491 P>T No ClinGen
TOPMed
gnomAD
CA185343853
rs979564302
492 L>P No ClinGen
Ensembl
CA372176458
rs1415125488
493 S>F No ClinGen
TOPMed
gnomAD
CA372176464
rs1415125488
493 S>Y No ClinGen
TOPMed
gnomAD
CA4875679
rs770936296
494 A>S No ClinGen
ExAC
gnomAD
CA4875678
rs760686608
494 A>V No ClinGen
ExAC
gnomAD
CA372176374
rs1474564773
498 T>A No ClinGen
gnomAD
COSM1454828
rs748360610
CA4875675
499 L>P large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA4875674
rs778626448
500 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs1189148616
CA372176333
500 S>P No ClinGen
gnomAD
rs1207243167
CA372176232
503 Q>H No ClinGen
gnomAD
rs749217446
CA4875670
507 E>A No ClinGen
ExAC
TOPMed
gnomAD
CA4875671
rs374274478
507 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1166688664
CA372176136
508 A>V No ClinGen
TOPMed
CA4875669
rs779994855
509 A>E No ClinGen
ExAC
gnomAD

No associated diseases with Q9BYG8

2 regional properties for Q9BYG8

Type Name Position InterPro Accession
domain Gasdermin, pore forming domain 4 - 240 IPR040460
domain Gasdermin, PUB domain 314 - 481 IPR041263

Functions

Description
EC Number
Subcellular Localization
  • [Gasdermin-C]: Cytoplasm, cytosol
  • ;
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

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.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
integral component of membrane The component of a 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.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

3 GO annotations of molecular function

Name Definition
phosphatidylinositol-4,5-bisphosphate binding Binding to phosphatidylinositol-4,5-bisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 4' and 5' positions.
phosphatidylinositol-4-phosphate binding Binding to phosphatidylinositol-4-phosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 4' position.
phosphatidylserine binding Binding to phosphatidylserine, a class of glycophospholipids in which a phosphatidyl group is esterified to the hydroxyl group of L-serine.

2 GO annotations of biological process

Name Definition
defense response to bacterium Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism.
pyroptosis A caspase-1-dependent cell death subroutine that is associated with the generation of pyrogenic mediators such as IL-1beta and IL-18.

12 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P57764 GSDMD Gasdermin-D Homo sapiens (Human) EV
Q96QA5 GSDMA Gasdermin-A Homo sapiens (Human) SS
Q8TAX9 GSDMB Gasdermin-B Homo sapiens (Human) EV
Q32M21 Gsdma2 Gasdermin-A2 Mus musculus (Mouse) SS
Q5Y4Y6 Gsdma3 Gasdermin-A3 Mus musculus (Mouse) EV
Q8CB12 Gsdmc3 Gasdermin-C3 Mus musculus (Mouse) SS
Q9D8T2 Gsdmd Gasdermin-D Mus musculus (Mouse) SS
Q9EST1 Gsdma Gasdermin-A Mus musculus (Mouse) SS
Q2KHK6 Gsdmc2 Gasdermin-C2 Mus musculus (Mouse) SS
Q3TR54 Gsdmc4 Gasdermin-C4 Mus musculus (Mouse) SS
Q99NB5 Gsdmc Gasdermin-C Mus musculus (Mouse) SS
P85967 Gsdmc Gasdermin-C Rattus norvegicus (Rat) SS
10 20 30 40 50 60
MPSMLERISK NLVKEIGSKD LTPVKYLLSA TKLRQFVILR KKKDSRSSFW EQSDYVPVEF
70 80 90 100 110 120
SLNDILEPSS SVLETVVTGP FHFSDIMIQK HKADMGVNVG IEVSVSGEAS VDHGCSLEFQ
130 140 150 160 170 180
IVTIPSPNLE DFQKRKLLDP EPSFLKECRR RGDNLYVVTE AVELINNTVL YDSSSVNILG
190 200 210 220 230 240
KIALWITYGK GQGQGESLRV KKKALTLQKG MVMAYKRKQL VIKEKAILIS DDDEQRTFQD
250 260 270 280 290 300
EYEISEMVGY CAARSEGLLP SFHTISPTLF NASSNDMKLK PELFLTQQFL SGHLPKYEQV
310 320 330 340 350 360
HILPVGRIEE PFWQNFKHLQ EEVFQKIKTL AQLSKDVQDV MFYSILAMLR DRGALQDLMN
370 380 390 400 410 420
MLELDSSGHL DGPGGAILKK LQQDSNHAWF NPKDPILYLL EAIMVLSDFQ HDLLACSMEK
430 440 450 460 470 480
RILLQQQELV RSILEPNFRY PWSIPFTLKP ELLAPLQSEG LAITYGLLEE CGLRMELDNP
490 500
RSTWDVEAKM PLSALYGTLS LLQQLAEA