AiPD: Autoinhibited Protein Database

O14862

Gene name	AIM2
Protein name	Interferon-inducible protein AIM2
Names	Absent in melanoma 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9447
EC number
Protein Class	INTERFERON-INDUCIBLE PROTEIN AIM2 FAMILY MEMBER (PTHR12200)

Descriptions

Interferon-inducible protein AIM2 have been identified as DNA receptors that induce inflammasome formation. AIM2 contains a C-terminal DNA-binding HIN domain and an N-terminal PYD domain belonging to the death domain superfamily of signaling modules. AIM2 PYD domain inhibits the HIN:DNA interaction. PYD domain binds to the HIN domain from the intramolecular complex, which hinders the DNA binding of HIN domain.

Autoinhibitory domains (AIDs)

Target domain	144-343 (HIN domain)
Relief mechanism	Ligand binding
Assay	Mutagenesis experiment, Structural analysis

AID

1-107 (PYD domain)

Target domain

144-343 (HIN domain)

Relief mechanism

Ligand binding (DNA binding by HIN domain)

Assay

Mutagenesis experiment, Structural analysis

Accessory elements

No accessory elements

References

Jin T et al. (2012) "Structures of the HIN domain:DNA complexes reveal ligand binding and activation mechanisms of the AIM2 inflammasome and IFI16 receptor", Immunity, 36, 561-71

Jin T et al. (2013) "Structure of the absent in melanoma 2 (AIM2) pyrin domain provides insights into the mechanisms of AIM2 autoinhibition and inflammasome assembly", The Journal of biological chemistry, 288, 13225-35

Autoinhibited structure

Activated structure

7 structures for O14862

Entry ID	Method	Resolution	Chain	Position	Source
3RN2	X-ray	255 A	A/B	144-343	PDB
3RN5	X-ray	250 A	A/B/C/D	144-343	PDB
3VD8	X-ray	207 A	A	1-107	PDB
4O7Q	X-ray	182 A	A	1-93	PDB
6MB2	EM	500 A	A/B/C/D/E/F/G/H/I/J/K/L/M/N/O	1-93	PDB
7K3R	EM	320 A	A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P/Q/R/S/T/U	1-117	PDB
AF-O14862-F1	Predicted				AlphaFoldDB

251 variants for O14862

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs74689714 CA1186900 RCV000961310 RCV001374519	344	T>E	Hereditary breast ovarian cancer syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA31314501 rs935115122	3	S>N		No	ClinGen Ensembl
CA1187170 rs778132585	3	S>R		No	ClinGen ExAC gnomAD
rs754660736 CA1187169 COSM675998	5	Y>*	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs150884694 CA1187168	8	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1222150879 CA343053728	8	I>V		No	ClinGen TOPMed
CA343053709 rs765925699	11	L>V		No	ClinGen ExAC gnomAD
rs762422070 CA1187165	12	T>R		No	ClinGen ExAC gnomAD
rs529181365 CA1187164	13	G>V		No	ClinGen 1000Genomes ExAC gnomAD
rs761739654 CA1187162	15	D>G		No	ClinGen ExAC
rs776317433 CA1187161	17	I>F		No	ClinGen ExAC gnomAD
CA1187160 rs768522855	18	T>A		No	ClinGen ExAC TOPMed gnomAD
CA1187158 rs201119668	21	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1187157 rs772343677	24	R>S		No	ClinGen ExAC TOPMed gnomAD
CA343053625 rs1461481073	24	R>T		No	ClinGen gnomAD
CA343053594 rs1210686306	28	F>S		No	ClinGen TOPMed
CA1187155 rs745924959	29	L>F		No	ClinGen ExAC TOPMed gnomAD
rs201923123 CA31314386	29	L>P		No	ClinGen 1000Genomes
CA1187152 COSM675999 rs2276405	32	E>*	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
VAR_022022 rs2276405 CA1187151	32	E>K		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1570946519 CA343053527	33	F>L		No	ClinGen Ensembl
rs1215704089 CA343053522	34	N>D		No	ClinGen gnomAD
CA1187150 rs575843618	34	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs756452296 CA343053499	35	I>S		No	ClinGen ExAC TOPMed gnomAD
CA1187149 rs756452296	35	I>T		No	ClinGen ExAC TOPMed gnomAD
CA1187148 rs755133172	36	A>P		No	ClinGen ExAC gnomAD
rs1227127859 CA343053425	41	H>R		No	ClinGen gnomAD
rs1324365943 CA343053386	44	N>S		No	ClinGen gnomAD
CA1187145 rs758008523	46	I>M		No	ClinGen ExAC gnomAD
rs749902483 CA1187144	48	V>I		No	ClinGen ExAC
CA31314289 rs987873854	49	A>P		No	ClinGen TOPMed
CA1187143 rs761674723	51	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1420111150 CA343053279	52	M>T		No	ClinGen gnomAD
CA1187141 rs753792783	53	I>N		No	ClinGen ExAC gnomAD
rs1474299970 CA343053251	54	Q>*		No	ClinGen gnomAD
rs1388611876 CA343053238	55	N>D		No	ClinGen TOPMed gnomAD
COSM3671459 rs1195747588 CA343053197	57	G>V	prostate [Cosmic]	No	ClinGen cosmic curated gnomAD
rs149324922 COSM3399868 CA1187140	58	A>V	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA343053172 rs1570946381	59	V>G		No	ClinGen Ensembl
CA1187137 rs772438927	63	M>V		No	ClinGen ExAC gnomAD
rs956381749 CA31314261	64	K>T		No	ClinGen TOPMed
CA1187136 rs759738285	65	T>S		No	ClinGen ExAC gnomAD
CA1187135 rs564558495	66	I>T		No	ClinGen 1000Genomes ExAC gnomAD
CA343053079 rs770998267 COSM1688882	67	R>C	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA1187134 rs770998267 COSM3802418	67	R>G	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA1187133 rs749813174	67	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1570946335 CA343053046	69	F>S		No	ClinGen Ensembl
CA343053010 rs1234580466	71	K>N		No	ClinGen gnomAD
CA1187131 rs770214338	73	N>H		No	ClinGen ExAC gnomAD
CA343052987 rs748522247	73	N>S		No	ClinGen ExAC TOPMed gnomAD
CA1187130 rs748522247	73	N>T		No	ClinGen ExAC TOPMed gnomAD
CA343052951 rs1408082778	75	M>I		No	ClinGen gnomAD
CA343052945 rs1185868825	76	L>F		No	ClinGen TOPMed
CA1187126 rs778334486	80	R>C		No	ClinGen ExAC TOPMed gnomAD
CA1187127 rs778334486	80	R>G		No	ClinGen ExAC TOPMed gnomAD
CA343052888 rs1173989623	80	R>H		No	ClinGen TOPMed gnomAD
CA343052895 rs778334486	80	R>S		No	ClinGen ExAC TOPMed gnomAD
rs756760657 CA1187125	81	L>P		No	ClinGen ExAC gnomAD
CA1187124 rs370997800	82	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA31314193 rs370997800	82	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA31314175 rs1003754759	82	Q>R		No	ClinGen Ensembl
rs756059260 CA1187122	84	E>K		No	ClinGen ExAC gnomAD
rs946992814 CA31314118	86	E>K		No	ClinGen Ensembl
rs767268941 CA1187100	88	V>G		No	ClinGen ExAC gnomAD
CA31310275 rs963140976	89	D>N		No	ClinGen TOPMed
rs867213773 CA31310273	90	K>E		No	ClinGen Ensembl
rs780754393 CA1187099	91	Q>L*		No	ClinGen ExAC gnomAD
CA343051934 rs1412108671 COSM897964	94	S>L	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA1187098 rs754774841	94	S>P		No	ClinGen ExAC gnomAD
rs1486013435 CA343051931	95	V>I		No	ClinGen gnomAD
CA1187097 rs751798059	98	P>L		No	ClinGen ExAC gnomAD
CA343051909 rs751798059	98	P>R		No	ClinGen ExAC gnomAD
rs1294740350 CA343051902	99	K>N		No	ClinGen TOPMed
rs766612712 CA1187096	101	L>P		No	ClinGen ExAC gnomAD
CA343051874 rs1469414121	104	A>T		No	ClinGen gnomAD
CA1187093 rs765247998	108	P>L		No	ClinGen ExAC TOPMed gnomAD
CA343051839 rs765247998	108	P>R		No	ClinGen ExAC TOPMed gnomAD
CA1187092 rs762352774	109	A>T		No	ClinGen ExAC gnomAD
rs768968156 CA1187090	110	A>G		No	ClinGen ExAC TOPMed gnomAD
CA343051832 rs1362995041	110	A>P		No	ClinGen gnomAD
rs1362995041 CA343051833	110	A>T		No	ClinGen gnomAD
rs1433088515 CA343051828	111	S>P		No	ClinGen gnomAD
CA1187089 rs200570312	113	A>P		No	ClinGen 1000Genomes ExAC gnomAD
rs775658618 CA1187088	115	R>I		No	ClinGen ExAC gnomAD
CA1187087 rs770622479	117	D>E		No	ClinGen ExAC gnomAD
CA1187085 rs777447448	119	A>E		No	ClinGen ExAC gnomAD
CA31310152 rs541126098	119	A>S		No	ClinGen gnomAD
CA343051777 rs541126098	119	A>T		No	ClinGen gnomAD
CA1187084 rs769408008	121	Q>*		No	ClinGen ExAC gnomAD
CA343051765 rs769408008	121	Q>K		No	ClinGen ExAC gnomAD
rs748140754 COSM1335319 CA343051757	122	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA1187083 rs748140754	122	R>G		No	ClinGen ExAC TOPMed gnomAD
CA1187082 rs781190100	122	R>H		No	ClinGen ExAC TOPMed gnomAD
CA1187081 rs754790018	124	A>G		No	ClinGen ExAC gnomAD
CA1187079 rs149011858	126	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA1187078 rs758640102	126	K>T		No	ClinGen ExAC gnomAD
rs199621187 CA1187076	127	V>F		No	ClinGen 1000Genomes TOPMed
rs199621187 CA343051730	127	V>I		No	ClinGen 1000Genomes TOPMed
CA31310086 rs1029659741	128	S>F		No	ClinGen TOPMed
rs750617312 CA1187075	128	S>T		No	ClinGen ExAC gnomAD
CA343051719 rs1466332210	129	P>L		No	ClinGen gnomAD
CA1187074 rs765337903	130	H>N		No	ClinGen ExAC gnomAD
CA343051704 rs1226494964	131	V>G		No	ClinGen gnomAD
rs764042138 CA1187053	134	E>Q		No	ClinGen ExAC gnomAD
rs1464182115 CA343051219	135	Q>*		No	ClinGen gnomAD
CA31308361 rs946483266	136	K>R		No	ClinGen Ensembl
CA31308354 rs754631449	139	V>A		No	ClinGen Ensembl
rs768035216 CA1187050	140	A>V		No	ClinGen ExAC gnomAD
CA1187049 rs376346476	141	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA1187048 rs773060046	142	Q>R		No	ClinGen ExAC gnomAD
CA1187047 rs764998465	143	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1261232489 CA343051032	147	E>G		No	ClinGen TOPMed
CA343050994 rs1485873818	150	Q>E		No	ClinGen gnomAD
rs988468498 CA343050961	151	K>N		No	ClinGen TOPMed gnomAD
CA1187046 rs149819770	152	R>C		No	ClinGen ESP ExAC gnomAD
CA1187045 rs144121944	152	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA31308311 rs149819770	152	R>S		No	ClinGen ESP ExAC gnomAD
rs201726244 CA31308284	153	C>S		No	ClinGen Ensembl
rs768025672 CA1187044	153	C>Y		No	ClinGen ExAC gnomAD
CA343050923 rs893628986	155	P>S		No	ClinGen gnomAD
CA31308271 rs893628986	155	P>T		No	ClinGen gnomAD
rs1286983136 CA343050913	156	V>I		No	ClinGen gnomAD
CA343050895 rs1235613732	158	V>L		No	ClinGen gnomAD
CA31308257 rs925123947	159	L>P		No	ClinGen TOPMed
CA31308248 rs1052245685	161	A>T		No	ClinGen gnomAD
rs775282472 CA1187042	163	K>Q		No	ClinGen ExAC gnomAD
COSM1666164 CA343050854 rs1161339919	164	P>R	eye [Cosmic]	No	ClinGen cosmic curated TOPMed
rs771911036 CA1187041	166	T>A		No	ClinGen ExAC gnomAD
rs745673444 CA1187040	166	T>K		No	ClinGen ExAC TOPMed gnomAD
rs745673444 CA343050841	166	T>M		No	ClinGen ExAC TOPMed gnomAD
rs866050462 CA31308218	169	T>I		No	ClinGen Ensembl
rs1338223593 CA343050805	171	E>D		No	ClinGen TOPMed
rs1416237281 CA343050803	172	G>S		No	ClinGen TOPMed
CA1187036 rs572476207	173	K>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1185089163 CA343050770	176	M>T		No	ClinGen gnomAD
rs756118457 CA1187035	178	H>R		No	ClinGen ExAC gnomAD
CA343050740 rs1264092730	180	T>R		No	ClinGen gnomAD
rs969176404 CA31308192	182	A>T		No	ClinGen TOPMed gnomAD
rs375608638 CA31308191	182	A>V		No	ClinGen Ensembl
CA1187034 rs768127211	183	T>I		No	ClinGen ExAC TOPMed gnomAD
rs768127211 CA1187033	183	T>K		No	ClinGen ExAC TOPMed gnomAD
CA1187032 rs368263314	184	E>G		No	ClinGen ExAC TOPMed gnomAD
CA1187030 rs35130877	186	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761571921 CA1187029	188	F>L		No	ClinGen ExAC gnomAD
CA1187027 rs763723491	194	N>D		No	ClinGen ExAC TOPMed gnomAD
rs760089097 CA1187026	194	N>S		No	ClinGen ExAC TOPMed gnomAD
CA1187025 rs774921419	195	T>S		No	ClinGen ExAC gnomAD
rs1461921000 CA343050618	199	D>G		No	ClinGen TOPMed gnomAD
CA343050596 rs1557891499	202	I>F		No	ClinGen Ensembl
CA343050577 rs1389882919	205	R>G		No	ClinGen TOPMed gnomAD
rs774155198 CA1187022	205	R>T		No	ClinGen ExAC TOPMed gnomAD
CA343050562 rs1476260977	207	I>F		No	ClinGen gnomAD
rs770609652 CA343050553	208	I>R		No	ClinGen ExAC TOPMed gnomAD
CA1187021 rs770609652	208	I>T		No	ClinGen ExAC TOPMed gnomAD
CA1187019 COSM1335315 rs749567312	214	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1570937988 CA343050492	217	G>D		No	ClinGen Ensembl
rs944682755 CA31308052	221	V>A		No	ClinGen Ensembl
rs148686373 CA343050446	223	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1165683 rs1452745048 CA343050445	224	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1303027808 CA343050434	225	S>L		No	ClinGen TOPMed
CA1187016 rs748193319	226	R>C		No	ClinGen ExAC gnomAD
COSM1987301 rs369765206 CA1187014	226	R>H	urinary_tract [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA1187015 rs369765206	226	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA1187012 rs373307771	227	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA343050405 rs1305038517	230	A>V		No	ClinGen gnomAD
rs376898750 CA1187011	231	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1284568832 CA343050385	233	D>E		No	ClinGen TOPMed
rs1330505100 CA343050378	234	Q>L		No	ClinGen gnomAD
rs1321498233 CA343050357	237	N>S		No	ClinGen gnomAD
rs41264453 CA1187009	239	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs41264453 CA1187010	239	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA343050345 rs1371714096	239	P>S		No	ClinGen TOPMed gnomAD
rs1371714096 CA343050347	239	P>T		No	ClinGen TOPMed gnomAD
CA1187007 rs567231955	243	I>F		No	ClinGen ExAC TOPMed gnomAD
CA343050318 rs1388527874	243	I>M		No	ClinGen gnomAD
rs1251329306 CA343050313	244	R>K		No	ClinGen TOPMed
CA343050301 rs1439204476	246	A>P		No	ClinGen TOPMed
CA343050291 rs1557891368	247	G>V		No	ClinGen Ensembl
rs766964882 CA1187006	249	T>P		No	ClinGen ExAC gnomAD
CA1187005 rs759519268	250	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1197388127 CA343050267	251	K>M		No	ClinGen gnomAD
rs1464229173 CA343050253	253	N>S		No	ClinGen TOPMed
CA1187000 rs371460238	254	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA343050237 rs1282001495	256	Q>E		No	ClinGen gnomAD
CA343050223 rs1052080482	258	Q>*		No	ClinGen TOPMed
CA31307965 rs1052080482	258	Q>E		No	ClinGen TOPMed
CA1186998 rs537140135	259	P>H		No	ClinGen 1000Genomes ExAC gnomAD
rs1343675895 CA343050210	260	L>F		No	ClinGen gnomAD
rs1272527942 CA343050203	261	G>E		No	ClinGen TOPMed gnomAD
rs1444336545 CA343050200	262	T>A		No	ClinGen gnomAD
rs117176165 CA1186997	262	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA343050171 rs1252155602	266	G>D		No	ClinGen TOPMed
rs1407753972 CA343050173	266	G>R		No	ClinGen TOPMed gnomAD
rs1407753972 CA343050174	266	G>S		No	ClinGen TOPMed gnomAD
rs368519239 CA31307922	268	F>L		No	ClinGen gnomAD
rs758880627 CA1186994	270	V>I		No	ClinGen ExAC gnomAD
CA343050126 rs1570937739	271	Q>H		No	ClinGen Ensembl
rs777523605 CA1186972 COSM897958	276	K>N	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs780810220 CA1186971	278	K>T		No	ClinGen ExAC gnomAD
CA1186968 rs751076810	280	I>T		No	ClinGen ExAC TOPMed gnomAD
rs200325850 CA1186969	280	I>V		No	ClinGen ExAC TOPMed gnomAD
CA1186964 rs750340497	282	F>L		No	ClinGen ExAC TOPMed gnomAD
CA31306005 rs750340497	282	F>V		No	ClinGen ExAC TOPMed gnomAD
rs1389481437 CA343049587	282	F>Y		No	ClinGen gnomAD
rs1195192094 CA343049580	283	D>Y		No	ClinGen TOPMed
CA1186963 rs765003556	287	N>T		No	ClinGen ExAC TOPMed gnomAD
rs1557890042 CA343049524	291	M>L		No	ClinGen Ensembl
CA1186961 rs761685221	292	E>G		No	ClinGen ExAC gnomAD
CA343049502 rs1334898766	294	L>P		No	ClinGen gnomAD
CA1186958 rs760937015	295	G>V		No	ClinGen ExAC gnomAD
rs151325808 CA1186956	298	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs376512880 CA343049472	299	E>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs376512880 CA1186955	299	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1302711140 CA343049462	300	D>G		No	ClinGen TOPMed
CA31305949 rs865840722	302	M>I		No	ClinGen Ensembl
CA1186953 rs771344708	302	M>V		No	ClinGen ExAC TOPMed gnomAD
CA1186952 rs749669034	303	K>R		No	ClinGen ExAC gnomAD
CA31305932 rs986453911	304	C>R		No	ClinGen TOPMed gnomAD
rs778047649 VAR_043379 CA1186951	304	C>Y		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs1319703648 CA343049410	305	K>*		No	ClinGen gnomAD
rs954614265 CA31305921	308	D>G		No	ClinGen TOPMed
rs1230912474 CA343049365	309	K>E		No	ClinGen gnomAD
CA1186949 rs145420527 COSM897957	311	R>*	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA343049343 rs145420527	311	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA1186948 rs145779112	311	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs750382048 CA1186946	313	T>P		No	ClinGen ExAC TOPMed gnomAD
rs753715706 CA1186943	317	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA343049274 rs753715706	317	L>R		No	ClinGen ExAC TOPMed gnomAD
rs763931248 CA1186942	320	N>D		No	ClinGen ExAC gnomAD
CA343049234 rs1403033766	321	G>R		No	ClinGen Ensembl
CA31305863 rs60651988	322	E>K		No	ClinGen Ensembl
rs1185253507 CA343049190	325	Q>*		No	ClinGen TOPMed
rs761025420 CA1186939	327	T>A		No	ClinGen ExAC TOPMed gnomAD
CA343049173 rs761025420	327	T>P		No	ClinGen ExAC TOPMed gnomAD
CA1186937 rs759649002	329	G>E		No	ClinGen ExAC gnomAD
CA1186936 COSM346551 rs759649002	329	G>V	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs774240443 CA1186935	330	V>F		No	ClinGen ExAC gnomAD
CA31305820 rs202163702	331	H>R		No	ClinGen 1000Genomes
CA343049096 rs1163330726	333	T>I		No	ClinGen TOPMed
rs200035647 CA1186932	334	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1205585479 CA343049072	335	K>N		No	ClinGen gnomAD
rs1021700678 CA31305796	335	K>Q		No	ClinGen TOPMed
CA343049012 COSM529887 rs1464104598	336	V>F	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA343049015 rs1464104598	336	V>I		No	ClinGen gnomAD
rs1405975827 CA343048970	339	A>V		No	ClinGen TOPMed
rs1425828360 CA343048935	342	K>N		No	ClinGen TOPMed gnomAD
rs762248061 CA1186907	343	T>K		No	ClinGen ExAC
rs770198015 CA1186908 COSM1319844	343	T>P	ovary [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA890004679 rs1347397831	344	T>E		No	ClinGen TOPMed
rs778613444 CA1186899	344	T>L		No	ClinGen ExAC gnomAD
CA1186901 rs74689714	344	T>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD

No associated diseases with O14862

2 regional properties for O14862

Type	Name	Position	InterPro Accession
domain	DAPIN domain	1 - 87	IPR004020
domain	HIN-200/IF120x	138 - 337	IPR004021

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Inflammasome Nucleus	Activated inflammasomes can aggregate in the cytosol as speck-like particles (PubMed:19158675, PubMed:19158676, PubMed:19158679) Activated inflammasomes can also aggregate in the nucleus in response to DNA damage: AIM2 is recruited to double-strand DNA breaks and mediates activation of the AIM2 inflammasome (By similarity)
PANTHER Family	PTHR12200	INTERFERON-INDUCIBLE PROTEIN AIM2 FAMILY MEMBER
PANTHER Subfamily	PTHR12200:SF17	INTERFERON-INDUCIBLE PROTEIN AIM2
PANTHER Protein Class	DNA-binding transcription factor
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
AIM2 inflammasome complex	An inflammasome complex that consists of AIM2, ASC, and caspase-1. AIM2 is a member of the HN-200 protein family that appears to be the sensor of cytosolic double-stranded DNA.
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.
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.

2 GO annotations of molecular function

Name	Definition
double-stranded DNA binding	Binding to double-stranded DNA.
identical protein binding	Binding to an identical protein or proteins.

16 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.
apoptotic process	A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
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 xenobiotic stimulus	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 a stimulus from a xenobiotic, a compound foreign to the organism exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.
immune response	Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat.
inflammatory response	The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.
innate immune response	Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
negative regulation of NF-kappaB transcription factor activity	Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of the transcription factor NF-kappaB.
NLRP3 inflammasome complex assembly	The aggregation, arrangement and bonding together of a set of components to form the NLRP3 inflammasome complex, occurring at the level of an individual cell.
positive regulation of cysteine-type endopeptidase activity	Any process that activates or increases the frequency, rate or extent of cysteine-type endopeptidase activity.
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 interleukin-1 beta production	Any process that activates or increases the frequency, rate, or extent of interleukin-1 beta production.
positive regulation of NF-kappaB transcription factor activity	Any process that activates or increases the frequency, rate or extent of activity of the transcription factor NF-kappaB.
pyroptosis	A caspase-1-dependent cell death subroutine that is associated with the generation of pyrogenic mediators such as IL-1beta and IL-18.
pyroptosome complex assembly	The aggregation, arrangement and bonding together of a set of components to form a pyroptosome complex.
tumor necrosis factor-mediated signaling pathway	The series of molecular signals initiated by tumor necrosis factor binding to its receptor on the surface of a cell, and ending with the regulation of a downstream cellular process, e.g. transcription.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P41218	MNDA	Myeloid cell nuclear differentiation antigen	Homo sapiens (Human)	PR
O35368	Ifi203	Interferon-activable protein 203	Mus musculus (Mouse)	PR
Q91VJ1	Aim2	Interferon-inducible protein AIM2	Mus musculus (Mouse)	SS

10	20	30	40	50	60
MESKYKEILL	LTGLDNITDE	ELDRFKFFLS	DEFNIATGKL	HTANRIQVAT	LMIQNAGAVS
70	80	90	100	110	120
AVMKTIRIFQ	KLNYMLLAKR	LQEEKEKVDK	QYKSVTKPKP	LSQAEMSPAA	SAAIRNDVAK
130	140	150	160	170	180
QRAAPKVSPH	VKPEQKQMVA	QQESIREGFQ	KRCLPVMVLK	AKKPFTFETQ	EGKQEMFHAT
190	200	210	220	230	240
VATEKEFFFV	KVFNTLLKDK	FIPKRIIIIA	RYYRHSGFLE	VNSASRVLDA	ESDQKVNVPL
250	260	270	280	290	300
NIIRKAGETP	KINTLQTQPL	GTIVNGLFVV	QKVTEKKKNI	LFDLSDNTGK	MEVLGVRNED
310	320	330	340
TMKCKEGDKV	RLTFFTLSKN	GEKLQLTSGV	HSTIKVIKAK	KKT