AiPD: Autoinhibited Protein Database

Q8TAX9

Gene name	GSDMB
Protein name	Gasdermin-B
Names	Gasdermin-like protein
Species	Homo sapiens (Human)
KEGG Pathway	hsa:55876
EC number
Protein Class	GASDERMIN (PTHR16399)

Descriptions

Gasdermin B (GSDMB) is unique among gasdermins due to its lack of autoinhibition in its full-length form, allowing it to bind phosphatidylinositol phosphates and sulfatides. It can promote both lytic and non-lytic cellular functions. GSDMB's function includes modulating epithelial cell responses to inflammation, infection, and tumorigenesis, which is regulated by its distinct structural features and lipid-binding properties.

Autoinhibitory domains (AIDs)

Target domain	No autoinhibition
Relief mechanism
Assay

AID

No autoinhibitory domain

Target domain

No autoinhibition

Relief mechanism

Assay

Accessory elements

No accessory elements

References

Ivanov AI et al. (2023) "The enigmatic roles of epithelial gasdermin B: Recent discoveries and controversies", Trends in cell biology, 33, 48-59

Shi J et al. (2015) "Cleavage of GSDMD by inflammatory caspases determines pyroptotic cell death", Nature, 526, 660-5

Ding J et al. (2016) "Pore-forming activity and structural autoinhibition of the gasdermin family", Nature, 535, 111-6

Zhou Z et al. (2020) "Granzyme A from cytotoxic lymphocytes cleaves GSDMB to trigger pyroptosis in target cells", Science (New York, N.Y.), 368,

Autoinhibited structure

Activated structure

11 structures for Q8TAX9

Entry ID	Method	Resolution	Chain	Position	Source
5TIB	X-ray	260 A	A/B	251-411	PDB
5TJ2	X-ray	280 A	A/B/C/D	251-411	PDB
5TJ4	X-ray	350 A	A/B/C/D/E/F/G/H/I/J	222-413	PDB
7WJQ	X-ray	270 A	B	1-411	PDB
8EFP	EM	380 A	C	1-416	PDB
8ET1	EM	448 A	A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P/Q/R/S/T/U/V/W/X	1-416	PDB
8ET2	EM	496 A	A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P/Q/R/S/T/U/V/W/X	1-416	PDB
8GTJ	X-ray	270 A	A/C	1-416	PDB
8GTK	X-ray	310 A	A	1-416	PDB
8GTN	EM	317 A	A/AA/B/BA/C/D/E/F/G/H/I/J/K/L/M/N/O/P/Q/R/S/T/V/W/X/Y/Z	1-235	PDB
AF-Q8TAX9-F1	Predicted				AlphaFoldDB

345 variants for Q8TAX9

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA399278429 rs138087355	2	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs138087355 CA8536520	2	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8536519 rs550945873	3	S>G		No	ClinGen 1000Genomes ExAC gnomAD
CA8536516 rs775513658	4	V>A		No	ClinGen ExAC TOPMed gnomAD
CA8536517 rs754568783	4	V>I		No	ClinGen ExAC TOPMed gnomAD
CA399278224 rs1330531631	8	I>T		No	ClinGen gnomAD
rs766087258 CA8536515	8	I>V		No	ClinGen ExAC gnomAD
CA290446293 rs928233567	10	R>G		No	ClinGen Ensembl
rs760505111 CA8536514	11	I>F		No	ClinGen ExAC
rs150365108 CA399278146	12	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs150365108 CA8536513	12	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8536512 rs767456830	13	V>I		No	ClinGen ExAC
rs761686694 CA8536511	14	K>E		No	ClinGen ExAC TOPMed gnomAD
rs908222831 CA290446275	14	K>M		No	ClinGen TOPMed
rs535962170 CA8536509	15	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs535962170 CA8536510	15	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA399277995 rs1320359962	16	M>L		No	ClinGen gnomAD
CA8536508 rs759761986	17	D>H		No	ClinGen ExAC gnomAD
CA8536507 rs373180121	18	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1239663497 CA399277888	18	A>V		No	ClinGen TOPMed gnomAD
CA8536506 rs771112149	19	G>E		No	ClinGen ExAC gnomAD
CA399277873 rs771112149	19	G>V		No	ClinGen ExAC gnomAD
rs376165512 CA290446266	21	D>N		No	ClinGen Ensembl
CA290446264 rs908675662	22	M>V		No	ClinGen Ensembl
CA399277751 rs1194950969	23	I>F		No	ClinGen gnomAD
CA8536504 rs778033673	24	A>V		No	ClinGen ExAC TOPMed gnomAD
rs369141327 CA399277680	25	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA8536502 rs369141327	25	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs369141327 CA290446259	25	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs778329550 CA8536501	26	R>G		No	ClinGen ExAC gnomAD
rs754480485 CA8536500	27	S>G		No	ClinGen ExAC gnomAD
CA8536499 rs146716972	27	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1344566952 CA399277602	27	S>R		No	ClinGen TOPMed gnomAD
CA8536498 rs779733663	28	L>R		No	ClinGen ExAC TOPMed gnomAD
CA8536496 rs750191458	30	D>G		No	ClinGen ExAC gnomAD
CA399277508 rs1436279788	32	D>N		No	ClinGen gnomAD
CA399277459 rs1447062069	33	R>K		No	ClinGen Ensembl
CA399277374 rs1347258625	34	F>C		No	ClinGen gnomAD
CA399277398 rs1347258625	34	F>S		No	ClinGen gnomAD
rs371623073 CA8536494	35	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA8536493 rs368965722	35	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs372700769 CA8536491	37	F>L		No	ClinGen ESP ExAC gnomAD
rs764190637 CA8536492	37	F>V		No	ClinGen ExAC gnomAD
rs560679956 CA8536488	41	G>E		No	ClinGen ExAC gnomAD
CA399277200 rs1476280637	42	E>K		No	ClinGen TOPMed gnomAD
rs1235585212 CA399277167	43	K>E		No	ClinGen gnomAD
CA399277116 rs1442103888	45	T>P		No	ClinGen TOPMed gnomAD
rs760832062 CA8536487	46	F>L		No	ClinGen ExAC gnomAD
rs773570506 CA8536486	47	F>S		No	ClinGen ExAC gnomAD
CA8536485 rs368721570	50	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
COSM978726 COSM978727 CA399277020 rs1164315955	50	R>W	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed
CA399276962 rs1282832605	52	Y>C		No	ClinGen gnomAD
CA8536482 rs769200123	53	T>K		No	ClinGen ExAC gnomAD
CA290446230 rs143372659	53	T>S		No	ClinGen 1000Genomes
CA399276933 rs1318922014	54	T>A		No	ClinGen TOPMed
CA8536480 rs140887150	55	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA399276855 rs1449249354	57	T>A		No	ClinGen TOPMed
rs755740952 COSM1241235 COSM1241234 CA8536479	58	L>P	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs902352248 CA290446199	59	M>T		No	ClinGen Ensembl
rs150941805 CA8536478	60	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1168663295 CA399276729	60	D>G		No	ClinGen gnomAD
CA399276695 rs1411495460	61	I>V		No	ClinGen gnomAD
rs1181086700 CA399276670	63	D>H		No	ClinGen gnomAD
CA8536477 rs780970989	64	T>I		No	ClinGen ExAC gnomAD
rs757110404 CA8536476	65	D>G		No	ClinGen ExAC TOPMed gnomAD
CA290446181 rs757110404	65	D>V		No	ClinGen ExAC TOPMed gnomAD
CA399276486 rs1330769495	66	G>W		No	ClinGen TOPMed
rs1206486645 CA399276386	68	K>E		No	ClinGen TOPMed
rs751454518 CA8536475	68	K>R		No	ClinGen ExAC gnomAD
rs202032801 CA8536474	70	L>*		No	ClinGen 1000Genomes ExAC gnomAD
CA399276314 rs202032801	70	L>S		No	ClinGen 1000Genomes ExAC gnomAD
CA399276286 rs1251260649	71	D>G		No	ClinGen gnomAD
CA399276298 rs1283144165	71	D>H		No	ClinGen TOPMed
CA399276234 rs1309833700	74	D>H		No	ClinGen gnomAD
CA399276182 rs1423035117	76	G>E		No	ClinGen TOPMed gnomAD
rs758445525 CA8536473	76	G>R		No	ClinGen ExAC TOPMed gnomAD
CA399276194 rs758445525	76	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1423035117 CA399276185	76	G>V		No	ClinGen TOPMed gnomAD
CA8536472 rs142509403	78	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1311936830 CA399274425	79	G>D		No	ClinGen gnomAD
CA399274397 rs1160022238	80	Q>P		No	ClinGen gnomAD
CA399274364 rs1420971357	81	K>Q		No	ClinGen gnomAD
CA290443708 rs999589479	88	D>Y		No	ClinGen Ensembl
rs1455118785 CA399274095	89	N>S		No	ClinGen gnomAD
rs377539369 CA8536450	90	V>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA399274034 rs1207252115	91	D>E		No	ClinGen gnomAD
COSM978723 COSM978724 CA8536449 rs140714868	93	T>M	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs762053643 CA8536448	94	G>*		No	ClinGen ExAC gnomAD
rs774647453 CA8536447	94	G>V		No	ClinGen ExAC gnomAD
rs1300041219 CA399273966	95	E>V		No	ClinGen gnomAD
rs1295259562 CA399273929	96	L>F		No	ClinGen gnomAD
rs1373126823 CA399273946	96	L>V		No	ClinGen gnomAD
rs4636939 CA8536446	97	I>M		No	ClinGen ExAC gnomAD
CA8536445 rs763447425	98	V>L		No	ClinGen ExAC TOPMed gnomAD
CA399273851 rs1333484464	101	P>L		No	ClinGen TOPMed
rs549073495 CA290443670	101	P>S		No	ClinGen 1000Genomes
CA8536444 rs775854754	102	K>E		No	ClinGen ExAC gnomAD
rs770387053 CA8536443	103	E>*		No	ClinGen ExAC TOPMed gnomAD
rs1357614367 CA399273801	105	T>A		No	ClinGen gnomAD
rs745344999 CA8536442	106	I>T		No	ClinGen ExAC gnomAD
rs776240501 CA8536441	108	G>V		No	ClinGen ExAC gnomAD
CA399273701 rs1397465612	109	S>R		No	ClinGen gnomAD
rs940632891 CA290443664	111	Q>R		No	ClinGen TOPMed gnomAD
rs1043715325 CA290443663	112	G>S		No	ClinGen gnomAD
CA399273583 rs1598278204	113	F>L		No	ClinGen Ensembl
CA399273573 rs1346832539	114	H>Y		No	ClinGen TOPMed
rs1011936168 COSM186324 CA290443662 COSM186325	117	K>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA399273477 rs1598278194	118	I>L		No	ClinGen Ensembl
CA290443661 rs894389122	119	K>E		No	ClinGen Ensembl
CA8536440 rs770663457	120	I>M		No	ClinGen ExAC TOPMed gnomAD
CA8536439 rs746675335	121	S>L		No	ClinGen ExAC TOPMed gnomAD
rs12450091 CA8536438 VAR_042632	122	E>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs758265182 CA8536437	123	N>S		No	ClinGen ExAC gnomAD
CA399273350 rs1272409907	124	R>P		No	ClinGen TOPMed gnomAD
rs1272409907 CA399273352	124	R>Q		No	ClinGen TOPMed gnomAD
rs751148167 CA8536436	124	R>W		No	ClinGen ExAC TOPMed gnomAD
CA399273345 rs1227647735	125	I>L		No	ClinGen gnomAD
rs778693970 CA8536435	125	I>M		No	ClinGen ExAC gnomAD
rs750429077 CA8536433	126	S>F		No	ClinGen ExAC gnomAD
rs754984071 CA8536434	126	S>P		No	ClinGen ExAC gnomAD
rs1312460872 CA399273304	130	L>Q		No	ClinGen gnomAD
VAR_042633 CA290443629 rs4619433	132	T>A		No	ClinGen UniProt Ensembl dbSNP
CA8536430 rs373509816	133	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA399273256 rs1568104501	133	L>P		No	ClinGen Ensembl
rs1028691526 CA290443615	134	E>K		No	ClinGen TOPMed gnomAD
CA290443611 rs1028691526	134	E>Q		No	ClinGen TOPMed gnomAD
CA399272393 rs1180499398	138	L>V		No	ClinGen gnomAD
CA8536411 rs757321944	140	R>G		No	ClinGen ExAC gnomAD
rs751694616 CA8536410	141	E>*		No	ClinGen ExAC gnomAD
CA399272228 rs1438022023	141	E>G		No	ClinGen TOPMed
rs1438022023 CA399272218	141	E>V		No	ClinGen TOPMed
rs375631060 CA8536408	142	L>I		No	ClinGen ESP ExAC gnomAD
CA8536407 rs373486253	143	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA399272161 rs1337250775	143	P>S		No	ClinGen TOPMed gnomAD
CA8536406 rs765652166	144	F>V		No	ClinGen ExAC TOPMed gnomAD
rs201723403 CA8536405	147	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA290442096 rs147293765	147	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8536404 rs147293765	147	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs147293765 CA8536403	147	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs760241860 CA8536402	149	I>V		No	ClinGen ExAC gnomAD
CA8536401 rs772889867	150	N>K		No	ClinGen ExAC gnomAD
rs771584658 CA8536400	151	T>M		No	ClinGen ExAC TOPMed gnomAD
CA290442076 rs771584658	151	T>R		No	ClinGen ExAC TOPMed gnomAD
COSM186320 rs1386040531 COSM186321 CA399271961	152	R>G	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA399271921 rs1157567850	153	E>D		No	ClinGen gnomAD
rs980454557 CA290442056	156	Y>C		No	ClinGen TOPMed gnomAD
CA399271809 rs1365101409	157	L>V		No	ClinGen gnomAD
CA399271803 rs1196085329	158	V>M		No	ClinGen gnomAD
CA399271759 rs1453771324	159	T>I		No	ClinGen TOPMed gnomAD
rs1253493051 CA399271678	163	E>K		No	ClinGen gnomAD
rs1215365647 CA399271667	163	E>V		No	ClinGen gnomAD
rs1463326353 CA399271644	164	T>M		No	ClinGen gnomAD
CA8536396 rs377712428	169	T>I		No	ClinGen ExAC
CA399271527 rs1568103131	170	L>R		No	ClinGen Ensembl
CA290442039 rs1041876056	172	S>N		No	ClinGen TOPMed
rs779951002 CA399271481	173	D>N		No	ClinGen ExAC TOPMed
CA8536393 rs779951002	173	D>Y		No	ClinGen ExAC TOPMed
COSM1710199 COSM1710198 rs747056027 CA8536391	174	R>Q	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs769769108 CA8536392	174	R>W		No	ClinGen ExAC gnomAD
CA290442002 rs376691359	175	Q>R		No	ClinGen TOPMed gnomAD
rs1343767589 CA399271426	176	Y>H		No	ClinGen TOPMed
CA399271409 rs1318064236	177	K>E		No	ClinGen TOPMed gnomAD
CA8536388 rs748409191	178	F>Y		No	ClinGen ExAC gnomAD
rs779074261 CA8536387	180	S>N		No	ClinGen ExAC TOPMed gnomAD
rs754305898 CA8536384	182	I>V		No	ClinGen ExAC gnomAD
rs766961609 COSM560933 COSM560932 CA8536383	184	Q>*	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs199576631 CA8536382	184	Q>H		No	ClinGen ExAC gnomAD
CA399271286 rs1477074356	184	Q>R		No	ClinGen TOPMed
CA399271276 rs1190628499	185	G>S		No	ClinGen TOPMed
rs375762243 CA8536378	186	H>Q		No	ClinGen ESP ExAC
CA8536379 rs761302785	186	H>Y		No	ClinGen ExAC gnomAD
rs1598276153 CA399271202	188	S>R		No	ClinGen Ensembl
rs763708560 CA8536377	188	S>R		No	ClinGen ExAC gnomAD
rs1568103050 CA399271189	189	Y>C		No	ClinGen Ensembl
CA8536376 rs762711552	192	K>E		No	ClinGen ExAC gnomAD
rs552097998 CA8536375	192	K>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1045886063 CA290441380	196	E>*		No	ClinGen TOPMed
rs770824077 CA8536354	199	I>V		No	ClinGen ExAC gnomAD
CA290441360 rs868868392	200	P>S		No	ClinGen Ensembl
rs1413387496 CA399270302	201	P>L		No	ClinGen TOPMed
rs376008710 CA8536349	202	N>D		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs376008710 CA8536350	202	N>H		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs376008710 CA290441338	202	N>Y		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs375176653 COSM1382904 CA8536347 COSM1382903	203	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs780497843 CA8536348	203	R>W		No	ClinGen ExAC TOPMed gnomAD
rs781705963 CA8536345	207	Y>C		No	ClinGen ExAC gnomAD
CA8536343 rs139970728	208	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs139970728 CA8536342	208	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs989273754 CA290441292	208	R>Q		No	ClinGen TOPMed gnomAD
rs1232821776 CA399270070	209	V>I		No	ClinGen gnomAD
CA399269937 rs1482077902	212	L>P		No	ClinGen TOPMed
CA8536341 rs757982606	212	L>V		No	ClinGen ExAC gnomAD
CA8536340 rs752345174	216	N>S		No	ClinGen ExAC TOPMed gnomAD
CA399269779 rs1271707898	218	E>Q		No	ClinGen gnomAD
rs150838130 CA8536338	219	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150838130 CA8536339	219	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA399269712 rs753616333	220	M>K		No	ClinGen ExAC gnomAD
rs753616333 CA8536337	220	M>T		No	ClinGen ExAC gnomAD
rs200267626 CA290440767	221	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA8536320 rs200267626	221	S>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA399269462 rs532347696	222	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8536319 rs532347696	222	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA399269468 rs1381946733	222	A>V		No	ClinGen TOPMed
rs889483553 CA290440758	227	H>E		No	ClinGen Ensembl
CA8536318 rs183724236	230	G>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1232021838 CA399269232	231	K>L		No	ClinGen TOPMed
rs368925281 CA290440737	232	T>L		No	ClinGen ESP gnomAD
rs747618403 CA8536297	234	S>G		No	ClinGen ExAC gnomAD
CA8536294 rs199540130	236	P>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA8536295 rs772725417	236	P>N		No	ClinGen ExAC TOPMed gnomAD
CA8536293 rs779821473	237	E>A		No	ClinGen ExAC gnomAD
CA290439833 rs933526199	237	E>C		No	ClinGen TOPMed gnomAD
rs1176061924 CA399268520	238	G>V		No	ClinGen TOPMed
rs901921047 CA290439826	240	S>Y		No	ClinGen TOPMed
CA399268461 rs1463022418	241	L>S		No	ClinGen TOPMed
CA399268086 rs1195207922	244	E>N		No	ClinGen TOPMed gnomAD
rs1226527311 CA399268046	247	R>S		No	ClinGen gnomAD
rs768046166 CA8536275	248	N>A		No	ClinGen ExAC TOPMed gnomAD
CA8536274 rs141418331	248	N>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs35104165 COSM33042 CA8536272	250	K>G	lung pancreas large_intestine breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1292864184 CA399267963	252	K>K		No	ClinGen gnomAD
rs1234005279 CA399267941	253	L>S		No	ClinGen gnomAD
rs143613562 CA8536270	256	M>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA399267861 rs1342395220	256	M>G		No	ClinGen gnomAD
rs1228858713 CA399267847	257	E>E		No	ClinGen TOPMed
CA290439292 rs998711143	257	E>R		No	ClinGen TOPMed gnomAD
CA399267740 rs757200396	261	K>L		No	ClinGen ExAC TOPMed gnomAD
CA8536269 rs757200396	261	K>V		No	ClinGen ExAC TOPMed gnomAD
rs1217494189 CA399267704 COSM372422 COSM372423	262	D>G	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1273349082 CA399267674	263	L>I		No	ClinGen TOPMed
rs751544468 CA8536268	264	T>I		No	ClinGen ExAC gnomAD
CA290439272 rs903053745	266	E>R		No	ClinGen gnomAD
CA8536267 rs764152715	267	K>N		No	ClinGen ExAC gnomAD
rs753994352 CA399267589	271	V>*		No	ClinGen ExAC TOPMed gnomAD
rs796742501 CA290439269	271	V>D		No	ClinGen Ensembl
CA8536265 rs753994352	271	V>K		No	ClinGen ExAC TOPMed gnomAD
rs1419657394 CA399267563	273	N>G		No	ClinGen gnomAD
rs760911008 CA8536262	274	S>E		No	ClinGen ExAC gnomAD
rs1467830924 CA399267536	274	S>I		No	ClinGen gnomAD
rs1447479567 CA399267522	275	L>G		No	ClinGen TOPMed
rs199530486 CA8536261	277	K>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA399267473 rs1170067357	280	G>F		No	ClinGen TOPMed
COSM978719 rs774825194 COSM978718 CA8536258	281	K>T	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA399267457 rs1568100973	282	E>E		No	ClinGen Ensembl
CA8536257 rs769253681	284	I>F		No	ClinGen ExAC TOPMed gnomAD
CA8536255 rs141827116	285	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA399267410 rs1326957095	286	Q>E		No	ClinGen gnomAD
CA8536254 rs35266519	288	L>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781065865 CA8536252	290	Q>Q		No	ClinGen ExAC TOPMed gnomAD
CA8536253 rs553860074	290	Q>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs972331517 CA290439204	291	R>*		No	ClinGen TOPMed gnomAD
rs746853116 CA8536250	292	V>H		No	ClinGen ExAC TOPMed gnomAD
CA8536251 rs746853116	292	V>N		No	ClinGen ExAC TOPMed gnomAD
rs370598352 CA8536249	294	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1323120233 CA399267303	296	L>G		No	ClinGen TOPMed
CA399267260 rs1485637276	297	I>I		No	ClinGen gnomAD
CA8536233 rs776402926	302	H>V		No	ClinGen ExAC TOPMed gnomAD
rs866308765 CA290439084	303	M>F		No	ClinGen TOPMed
rs2305479 CA8536231 VAR_042635	304	E>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs777650902 CA8536230	307	D>P		No	ClinGen ExAC gnomAD
rs771846321 CA8536229	308	K>T		No	ClinGen ExAC gnomAD
rs1341977904 CA399267143	308	K>V		No	ClinGen gnomAD
rs1376028866 CA399267112	310	L>A		No	ClinGen gnomAD
VAR_042636 rs2305480 CA8536227	311	L>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8536225 rs750549574	312	S>E		No	ClinGen ExAC gnomAD
CA8536226 rs756174459	312	S>N		No	ClinGen ExAC gnomAD
CA8536224 rs199992780	314	L>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA399267060 rs1241985968	315	F>V		No	ClinGen TOPMed
rs757501648 CA8536221	316	N>V		No	ClinGen ExAC gnomAD
rs1425974424 CA399266985	321	L>I		No	ClinGen TOPMed gnomAD
CA399266986 rs1425974424	321	L>S		No	ClinGen TOPMed gnomAD
CA399266988 rs1425974424	321	L>T		No	ClinGen TOPMed gnomAD
rs966096753 CA290439038	322	V>T		No	ClinGen Ensembl
rs1212912812 CA399266917	326	A>F		No	ClinGen gnomAD
CA399266921 rs1256648133	326	A>S		No	ClinGen TOPMed
rs1256648133 CA399266920	326	A>W		No	ClinGen TOPMed
rs1436577544 CA399266885	329	I>T		No	ClinGen gnomAD
rs200329027 CA8536217	329	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8536215 VAR_042637 rs16965388	330	L>C		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA399266881 rs16965388	330	L>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8536214 rs373291897	330	L>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8536212 rs373291897	330	L>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1521152 COSM1521153 rs373291897 CA8536213	330	L>P	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs772816211 CA8536211	331	D>V		No	ClinGen ExAC gnomAD
CA290439015 rs966675493	335	A>V		No	ClinGen TOPMed gnomAD
rs572572336 CA399266788	336	L>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs572572336 CA8536210	336	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1335080589 CA399266774	337	L>L		No	ClinGen gnomAD
CA399266713 rs1568100639	339	L>G		No	ClinGen Ensembl
CA399266682 rs1466928660	340	S>S		No	ClinGen gnomAD
rs1242316790 CA399265757	346	V>K		No	ClinGen gnomAD
rs1302431862 CA399265686	348	E>K		No	ClinGen gnomAD
rs1428864669 CA399265468	353	G>G		No	ClinGen gnomAD
CA290438671 rs368649550	356	P>G		No	ClinGen Ensembl
rs749236575 CA8536186	357	L>R		No	ClinGen ExAC gnomAD
CA399265317 rs1393744756	358	L>R		No	ClinGen gnomAD
rs202216767 CA8536185	359	K>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1426849244 CA399265226	360	D>I		No	ClinGen gnomAD
CA399265224 rs1184454682	360	D>P		No	ClinGen gnomAD
CA8536182 rs140109376	361	Q>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8536183 rs747114030	361	Q>S		No	ClinGen ExAC gnomAD
CA8536180 rs748499153	365	V>A		No	ClinGen ExAC gnomAD
rs1411188131 CA399265127	365	V>H		No	ClinGen TOPMed
rs773191356 CA8536164	367	E>L		No	ClinGen ExAC gnomAD
rs773191356 CA399264864	367	E>M		No	ClinGen ExAC gnomAD
rs1465396858 CA399264782	369	N>A		No	ClinGen gnomAD
COSM978715 COSM978714 rs748390249 CA8536162	369	N>Y	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA8536161 rs374858339	370	W>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA399264730 rs1348057930	371	D>L		No	ClinGen gnomAD
CA399264728 rs1167678424	371	D>T		No	ClinGen TOPMed
CA8536160 rs769130117	372	E>K		No	ClinGen ExAC gnomAD
rs749720930 CA8536159	373	L>*		No	ClinGen ExAC gnomAD
CA399264668 rs749720930	373	L>K		No	ClinGen ExAC gnomAD
CA290438317 rs759954798	375	S>*		No	ClinGen Ensembl
CA8536157 rs544592816	375	S>*		No	ClinGen 1000Genomes ExAC gnomAD
rs749899022 CA8536156	376	S>E		No	ClinGen ExAC TOPMed gnomAD
CA290438292 rs981684655	381	D>G		No	ClinGen Ensembl
CA399264337 rs1458005166	384	P>G		No	ClinGen gnomAD
rs751205562 CA8536153	385	E>I		No	ClinGen ExAC gnomAD
CA290438285 rs751934630	385	E>L		No	ClinGen ExAC TOPMed gnomAD
CA8536154 rs751934630	385	E>V		No	ClinGen ExAC TOPMed gnomAD
rs1400024867 CA399264283	386	A>H		No	ClinGen TOPMed
rs762711517 CA8536151	387	R>*		No	ClinGen ExAC gnomAD
rs151136250 CA8536152	387	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1337917365 CA399264208	388	I>E		No	ClinGen TOPMed
CA399264172 rs1305432727	390	C>G		No	ClinGen gnomAD
CA8536149 rs765175493	390	C>K		No	ClinGen ExAC gnomAD
rs759408409 CA8536148	391	A>E		No	ClinGen ExAC gnomAD
CA399264163 rs1309964991	391	A>T		No	ClinGen TOPMed gnomAD
rs773280800 CA8536147	392	L>*		No	ClinGen ExAC TOPMed gnomAD
rs1438333404 CA399264121	392	L>L		No	ClinGen TOPMed gnomAD
CA399264125 rs1438333404	392	L>Q		No	ClinGen TOPMed gnomAD
CA8536146 rs772044533	394	V>I		No	ClinGen ExAC gnomAD
CA290438234 rs111722981	394	V>P		No	ClinGen Ensembl
rs762043026 CA8536145	396	V>S		No	ClinGen ExAC
CA399263959 rs1194440617	396	V>V		No	ClinGen TOPMed
rs769042428 CA8536142	398	I>C		No	ClinGen ExAC gnomAD
CA399263895 rs1299164582	399	L>I		No	ClinGen TOPMed gnomAD
rs1191457180 CA399263760	402	L>C		No	ClinGen gnomAD
CA399263713 rs1450091213	403	A>T		No	ClinGen gnomAD
rs746361999 CA8536138	407	T>V		No	ClinGen ExAC gnomAD
CA399263612 rs1162083069	408	S>G		No	ClinGen TOPMed
CA8536136 rs781756645	409	V>K		No	ClinGen ExAC gnomAD
rs944885348 CA290438073	411	S>S		No	ClinGen Ensembl
CA399263544 rs1598272170	412	S>P		No	ClinGen Ensembl

No associated diseases with Q8TAX9

2 regional properties for Q8TAX9

Type	Name	Position	InterPro Accession
domain	Gasdermin, pore forming domain	5 - 232	IPR040460
domain	Gasdermin, PUB domain	249 - 376	IPR041263

Functions

		Description
EC Number
Subcellular Localization	[Gasdermin-B]: Cytoplasm	Vesicular localization in the apical region of gastric chief cells and colonic surface mucous cells, and the basal region of neuroendocrine cells
PANTHER Family	PTHR16399	GASDERMIN
PANTHER Subfamily	PTHR16399:SF20	GASDERMIN-B
PANTHER Protein Class	transporter
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
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.

4 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.
wide pore channel activity	Enables the transport of a solute across a membrane via a large pore, un-gated channel. Examples include gap junctions, which transport substances from one cell to another; and porins which transport substances in and out of bacteria, mitochondria and chloroplasts.

5 GO annotations of biological process

Name	Definition
cytolysis	The rupture of cell membranes and the loss of cytoplasm.
cytotoxic T cell pyroptotic process	Any pyroptotic process in a cytotoxic T cell.
defense response to bacterium	Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism.
granzyme-mediated programmed cell death signaling pathway	The series of molecular signals induced by granzymes which triggers the cell death of a cell. The pathway starts with reception of a granzyme signal, and ends when the execution phase of cell death is triggered. Granzymes are serine proteases that are secreted by cytotoxic T cells and natural killer cells to induce cell death in target cells.
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
Q9BYG8	GSDMC	Gasdermin-C	Homo sapiens (Human)	SS
P57764	GSDMD	Gasdermin-D	Homo sapiens (Human)	EV
Q96QA5	GSDMA	Gasdermin-A	Homo sapiens (Human)	SS
Q9EST1	Gsdma	Gasdermin-A	Mus musculus (Mouse)	SS
Q9D8T2	Gsdmd	Gasdermin-D	Mus musculus (Mouse)	SS
Q3TR54	Gsdmc4	Gasdermin-C4	Mus musculus (Mouse)	SS
Q5Y4Y6	Gsdma3	Gasdermin-A3	Mus musculus (Mouse)	EV
Q99NB5	Gsdmc	Gasdermin-C	Mus musculus (Mouse)	SS
Q32M21	Gsdma2	Gasdermin-A2	Mus musculus (Mouse)	SS
Q8CB12	Gsdmc3	Gasdermin-C3	Mus musculus (Mouse)	SS
Q2KHK6	Gsdmc2	Gasdermin-C2	Mus musculus (Mouse)	SS
P85967	Gsdmc	Gasdermin-C	Rattus norvegicus (Rat)	SS

10	20	30	40	50	60
MFSVFEEITR	IVVKEMDAGG	DMIAVRSLVD	ADRFRCFHLV	GEKRTFFGCR	HYTTGLTLMD
70	80	90	100	110	120
ILDTDGDKWL	DELDSGLQGQ	KAEFQILDNV	DSTGELIVRL	PKEITISGSF	QGFHHQKIKI
130	140	150	160	170	180
SENRISQQYL	ATLENRKLKR	ELPFSFRSIN	TRENLYLVTE	TLETVKEETL	KSDRQYKFWS
190	200	210	220	230	240
QISQGHLSYK	HKGQREVTIP	PNRVLSYRVK	QLVFPNKETM	SAGLDIHFRG	KTKSFPEGKS
250	260	270	280	290	300
LGSEDSRNMK	EKLEDMESVL	KDLTEEKRKD	VLNSLAKCLG	KEDIRQDLEQ	RVSEVLISGE
310	320	330	340	350	360
LHMEDPDKPL	LSSLFNAAGV	LVEARAKAIL	DFLDALLELS	EEQQFVAEAL	EKGTLPLLKD
370	380	390	400	410
QVKSVMEQNW	DELASSPPDM	DYDPEARILC	ALYVVVSILL	ELAEGPTSVS	S