AiPD: Autoinhibited Protein Database

P08697

Gene name	SERPINF2 (AAP, PLI)
Protein name	Alpha-2-antiplasmin
Names	Alpha-2-AP, Alpha-2-plasmin inhibitor, Alpha-2-PI, Serpin F2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:5345
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

16-105 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

16-105 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for P08697

Entry ID	Method	Resolution	Chain	Position	Source
AF-P08697-F1	Predicted				AlphaFoldDB

366 variants for P08697

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000000299 rs121965061	176	E>missing	Alpha-2-plasmin inhibitor deficiency [ClinVar]	Yes	ClinVar dbSNP
VAR_013254	176	E>del	APLID; variant Okinawa; probably blocks intracellular transport of alpha-2-plasmin inhibitor [UniProt]	Yes	UniProt
VAR_013255 RCV000000300 rs121965062 CA114104	411	V>M	Alpha-2-plasmin inhibitor deficiency Variant assessed as Somatic; impact. APLID [ClinVar, NCI-TCGA, UniProt]	Yes	Ensembl ClinGen ClinVar UniProt NCI-TCGA dbSNP
rs17852960 CA286810172	2	A>P		No	gnomAD ClinGen
rs17852960 CA286810175	2	A>S		No	gnomAD ClinGen
RCV000252815 CA8274019 rs2070862 RCV001689805 VAR_047951	2	A>V		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8274020 rs766407419	5	W>R		No	ExAC TOPMed gnomAD ClinGen
CA397559509 rs1390108134	6	G>A		No	TOPMed gnomAD ClinGen
CA397559506 rs1390108134	6	G>E		No	ClinGen TOPMed gnomAD
rs1238883141 CA397559516	7	L>F		No	TOPMed ClinGen
rs1232706093 CA397559538	8	L>V		No	ClinGen gnomAD
rs1166161109 CA397559560	9	V>M		No	ClinGen Ensembl
rs754979455 CA8274022	10	L>P		No	ClinGen ExAC gnomAD
CA397559580 rs1200668517	10	L>V		No	ClinGen TOPMed
CA286810196 rs1018100074	11	S>T		No	ClinGen TOPMed
CA8274023 rs767370481	12	W>C		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	14	C>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1224388142 CA397559696	14	C>R		No	ClinGen gnomAD
CA286810223 rs779797130	17	G>V		No	gnomAD ClinGen
CA397559850 rs1194000247	18	P>L		No	gnomAD ClinGen
CA286810225 rs976043138	19	C>G		No	Ensembl ClinGen
rs565475587 CA8274025	20	S>F		No	1000Genomes ExAC gnomAD ClinGen
rs372981803 CA8274029	21	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs752512440 CA8274041	22	F>L		No	ExAC gnomAD ClinGen
CA397560337 rs1297796682	27	A>D		No	gnomAD ClinGen
rs148022156 CA8274044	27	A>T		No	ESP ExAC gnomAD ClinGen
VAR_013252	27	A>V		No	UniProt
rs1360184575 CA397560353	28	M>T		No	gnomAD ClinGen
CA397560383 rs1297387886	29	E>G		No	ClinGen gnomAD
CA286810427 rs371084929	29	E>K		No	ESP TOPMed gnomAD ClinGen
CA8274046 rs757487763	30	P>S		No	ClinGen ExAC TOPMed gnomAD
CA397560470 rs1289591668	32	G>D		No	ClinGen gnomAD
CA397560460 rs1245070545	32	G>S		No	ClinGen gnomAD
rs186870227	33	R>*		No	1000Genomes ExAC TOPMed gnomAD
CA397560491 rs2070863	33	R>G		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs186870227 CA8274048 COSM4129625	33	R>Q	thyroid [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs2070863	33	R>R		No	1000Genomes ESP ExAC TOPMed gnomAD
CA8274047 RCV000242389 VAR_013253 rs2070863	33	R>W		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs758875204 CA8274049	34	Q>H		No	ExAC gnomAD ClinGen
CA397562202 rs1225015490	35	L>V		No	gnomAD ClinGen
CA397562224 rs1307221980	36	T>I		No	ClinGen gnomAD
CA397562223 rs1307221980	36	T>S		No	gnomAD ClinGen
rs185025710 CA397562247	37	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145959786 CA8274080	38	G>R		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA286810733 rs980636917	39	P>L		No	ClinGen gnomAD
CA8274082 rs375847980	40	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA397562544 rs1481646976	45	S>F		No	ClinGen gnomAD
TCGA novel	46	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1428721200 CA397562583	47	L>I		No	gnomAD ClinGen
rs1479551185 CA397562653	48	T>N		No	gnomAD ClinGen
rs937739448 CA397562685	49	L>H		No	TOPMed gnomAD ClinGen
rs937739448 CA286810763	49	L>P		No	TOPMed gnomAD ClinGen
rs937739448 CA397562690	49	L>R		No	TOPMed gnomAD ClinGen
rs368253719 CA8274084	50	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC gnomAD ClinGen NCI-TCGA
CA397562703 rs1402810272	50	L>R		No	ClinGen TOPMed
CA397562718 rs1470188696	51	K>N		No	ClinGen gnomAD
rs1168756348 CA397562744	52	L>W		No	TOPMed ClinGen
rs1444327439 CA397562783	54	N>T		No	ClinGen TOPMed gnomAD
CA8274115 rs746490905	57	P>A		No	ClinGen ExAC gnomAD
CA8274116 rs754584637	57	P>R		No	ExAC gnomAD ClinGen
TCGA novel	59	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8274118 rs780687347	60	Q>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs1567738073 CA397563136	60	Q>R		No	Ensembl ClinGen
CA397563159 rs1381170882	61	T>N		No	TOPMed gnomAD ClinGen
rs143158817 CA8274120	62	A>S		No	ClinGen ESP ExAC gnomAD
CA286811223 rs966138559	63	L>R		No	ClinGen TOPMed
rs1448494269 CA397563215	64	K>R		No	gnomAD ClinGen
CA397563255 rs1172339125	65	S>R		No	ClinGen TOPMed
rs772959548 COSM1709552 CA397563265	66	P>S	skin [Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated
rs772959548 CA8274125 COSM126098	66	P>T	upper_aerodigestive_tract [Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated
COSM1189357 CA397563287 rs1413396222	67	P>L	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA286811252 rs374505145	67	P>S		No	ClinGen ESP
rs1459888831 CA397563289	68	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
rs974424769 CA286811257	69	V>G		No	ClinGen TOPMed gnomAD
CA8274126 rs749156316	70	C>F		No	ExAC gnomAD ClinGen
CA8274127 rs771043021	71	S>N		No	ExAC gnomAD ClinGen
CA286811282 rs375243817	72	R>G		No	ClinGen ESP TOPMed gnomAD
CA397563380 rs1356756485	72	R>T		No	ClinGen gnomAD
CA397563401 rs1409776067	73	D>E		No	gnomAD ClinGen
TCGA novel	73	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	73	D>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397563413 rs1336426210	74	P>L		No	ClinGen gnomAD
rs774700863 CA8274128	74	P>S		No	ExAC gnomAD ClinGen
rs139043729 CA8274129	75	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA397563437 rs1445092230	77	E>Q		No	gnomAD ClinGen
rs989658630 CA397563486	80	H>Q		No	ClinGen TOPMed gnomAD
rs774656627 CA286811320	80	H>R		No	Ensembl ClinGen
rs150049229 CA8274131	81	R>M		No	ClinGen ESP ExAC
rs760124732 CA286811335	81	R>W		No	Ensembl ClinGen
CA397563501 rs1335232241	83	A>G		No	ClinGen gnomAD
CA8274132 rs369532118	84	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA397563504 rs1237035572	84	R>W		No	ClinGen TOPMed gnomAD
rs764742482 CA8274133	85	A>T		No	ClinGen ExAC gnomAD
CA8274134 rs754236693	86	M>I		No	ExAC gnomAD ClinGen
rs1262214812 CA397563526	87	M>I		No	ClinGen TOPMed gnomAD
rs921872677 CA286811375	87	M>V		No	Ensembl ClinGen
rs757700308 CA8274135	88	A>V		No	ClinGen ExAC gnomAD
rs145418861 CA8274137	91	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs891833303 CA286811409	91	A>V		No	ClinGen Ensembl
COSM1381137 CA8274139 rs780632227	92	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs747689438 CA8274140	93	L>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8274141 rs747689438	93	L>V		No	ClinGen ExAC TOPMed gnomAD
CA8274142 rs777745924	95	S>Y		No	ExAC gnomAD ClinGen
rs1215240257 CA397563612	96	L>V		No	ClinGen TOPMed gnomAD
rs36021516 VAR_051956 CA286811455	98	A>G		No	ClinGen UniProt TOPMed dbSNP
rs36021516 CA397563662	98	A>V		No	TOPMed ClinGen
rs778583716 CA397563695	100	T>K		No	ClinGen ExAC TOPMed gnomAD
CA8274145 rs778583716	100	T>M		No	ClinGen ExAC TOPMed gnomAD
rs772451170 CA8274147	102	T>A		No	ClinGen ExAC TOPMed
TCGA novel	112	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753156145 CA8274149	116	A>G		No	ClinGen ExAC TOPMed gnomAD
CA8274148 rs753156145	116	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1351199065 CA397564005	119	H>Y		No	ClinGen gnomAD
CA8274153 rs142502473	121	A>T		No	ESP ExAC TOPMed gnomAD ClinGen
CA8274154 rs750775266	121	A>V		No	ExAC gnomAD ClinGen
rs1312210715 CA397564396	125	Q>*		No	gnomAD ClinGen
rs778767873 CA8274181	125	Q>L		No	ClinGen ExAC TOPMed gnomAD
rs1209936304 CA397564438	126	N>K		No	TOPMed ClinGen
CA397564442 rs1438734884	127	H>Y		No	ClinGen TOPMed
rs750224019 CA8274182	128	T>M		No	ExAC gnomAD ClinGen
TCGA novel	129	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8274184 rs554698763	131	R>T		No	1000Genomes ExAC gnomAD ClinGen
CA397564548 rs1193322697	132	L>V		No	gnomAD ClinGen
rs199709434 CA286812820	135	V>L		No	1000Genomes ESP TOPMed gnomAD ClinGen
rs199709434 CA286812803	135	V>M		No	ClinGen 1000Genomes ESP TOPMed gnomAD
rs747171989 CA8274185	136	L>M		No	ExAC gnomAD ClinGen
COSM704888 rs755275743 CA397564703	137	H>Q	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1387156383 CA397564680	137	H>Y		No	ClinGen gnomAD
CA8274187 RCV000898555 rs186432737	138	A>T		No	1000Genomes ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
rs1362320022 CA397564725	139	G>S		No	ClinGen gnomAD
CA397564865 rs1455566327	144	L>F		No	ClinGen gnomAD
rs147897675 CA8274188	146	H>Q		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA397564915 rs1442680645	146	H>Y		No	TOPMed ClinGen
CA286812865 rs770319910	147	L>M		No	ClinGen ExAC TOPMed gnomAD
CA397565024 rs1597325298	149	S>G		No	Ensembl ClinGen
rs774717009 CA8274193	150	R>C		No	ExAC gnomAD ClinGen
rs561979795 CA8274194	150	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA286812916 rs752809055	152	C>R		No	Ensembl ClinGen
COSM1381138 CA397565140 rs1161769877	152	C>Y	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	gnomAD ClinGen cosmic curated NCI-TCGA
CA397565182 rs1269105866	153	Q>R		No	ClinGen gnomAD
rs1323353987 CA397565208	154	D>E		No	ClinGen TOPMed gnomAD
rs1202312647 CA397565239	155	L>P		No	gnomAD ClinGen
rs1239768823 CA397565240	156	G>S		No	ClinGen gnomAD
rs141696263 CA8274198	158	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA397565312 rs1248535684	158	G>S		No	ClinGen TOPMed gnomAD
rs375887925 CA8274201	159	A>T		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA397565353 rs1469155581	159	A>V		No	ClinGen gnomAD
rs992515917 CA286812941	161	R>*		No	TOPMed gnomAD ClinGen
rs199593577 CA286812964	161	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8274203 rs199593577 COSM975972	161	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA8274204 rs781319157	163	A>S		No	ClinGen ExAC gnomAD
TCGA novel	163	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748253959 CA8274205	164	A>S		No	ExAC gnomAD ClinGen
CA8274206 rs756080441	164	A>V		No	ClinGen ExAC gnomAD
CA397565573 rs1345247514	166	M>I		No	ClinGen TOPMed gnomAD
rs1403173358 CA397567184	175	K>N		No	gnomAD ClinGen
CA397567203 rs1325192848	176	E>G		No	ClinGen gnomAD
CA397567241 rs1350819622	177	D>V		No	gnomAD ClinGen
CA397567254 rs1430525861	178	F>I		No	ClinGen gnomAD
CA397567304 rs1367925557	180	E>K		No	ClinGen gnomAD
CA397567392 rs1314403025	183	E>K		No	gnomAD ClinGen
rs536156123 CA8274235	184	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
RCV000851601 rs1597325785	189	K>missing		No	ClinVar dbSNP
CA397567613 rs774362776	190	P>A		No	ClinGen ExAC TOPMed gnomAD
CA286813269 rs868831118	190	P>L		No	Ensembl ClinGen
rs774362776 CA8274236	190	P>S		No	ExAC TOPMed gnomAD ClinGen
rs767167105 CA397567661	191	V>L		No	ExAC TOPMed gnomAD ClinGen
CA8274238 rs767167105	191	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs752567596 CA8274239	192	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
CA286813305 rs1020280805	194	T>M		No	ClinGen TOPMed gnomAD
CA286813312 rs915821280	196	K>R		No	ClinGen TOPMed
rs1414120376 CA397567906	201	L>Q		No	gnomAD ClinGen
rs1399785722 CA397567928	202	A>T		No	ClinGen gnomAD
rs202070354 CA8274245	208	V>M		No	1000Genomes ExAC ClinGen
CA8274247 rs780242777	211	A>T		No	ExAC ClinGen
CA397568229 rs1450338958	214	G>E		No	gnomAD ClinGen
CA397568246 rs1284884792	215	K>N		No	gnomAD ClinGen
CA397568234 rs1390373722	215	K>Q		No	Ensembl ClinGen
rs201169280 CA8274250	219	F>L		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs1160747551 CA397568311	220	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1362313924 CA397568313	220	L>H		No	TOPMed ClinGen
rs1407816083 CA397568322	222	G>R		No	ClinGen TOPMed
CA286813364 rs978629835	223	L>M		No	Ensembl ClinGen
rs770506258 CA8274252	224	P>S		No	ExAC gnomAD ClinGen
CA397568359 rs909653557	228	V>L		No	ClinGen TOPMed gnomAD
rs909653557 CA286813399	228	V>M		No	ClinGen TOPMed gnomAD
TCGA novel	231	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397568378 rs1469259602	231	L>V		No	gnomAD ClinGen
rs138097660 CA8274258	234	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs753995965 CA8274259	234	A>V		No	ExAC gnomAD ClinGen
rs762039372 CA8274260	236	H>R		No	ExAC gnomAD ClinGen
rs1400636715 CA397568409	236	H>Y		No	gnomAD ClinGen
CA397568419 rs1334847091	237	F>S		No	gnomAD ClinGen
CA397568431 rs1245201062	239	G>S		No	TOPMed ClinGen
rs1414060025 CA397568524	240	F>V		No	ClinGen TOPMed
rs201542762 CA8274298	242	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs763091299 CA8274300	243	N>K		No	ClinGen ExAC TOPMed gnomAD
CA8274301 rs369334287	244	K>R		No	ESP ExAC gnomAD ClinGen
CA397568662 rs1187808056	247	P>A		No	ClinGen TOPMed
CA8274302 rs774324351	247	P>L		No	ExAC gnomAD ClinGen
TCGA novel	248	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397568689 rs1263360994	248	S>R		No	TOPMed gnomAD ClinGen
rs1261500294 CA397568742	251	Q>H		No	gnomAD ClinGen
CA397568737 rs1210768725	251	Q>R		No	ClinGen gnomAD
rs980708060 CA286815162	252	R>K		No	TOPMed gnomAD ClinGen
CA8274307 rs764367577	256	H>Y		No	ExAC gnomAD ClinGen
rs750032003 CA397568871	258	D>E		No	ExAC TOPMed gnomAD ClinGen
COSM164269 CA286815186 rs939393245	259	E>K	breast [Cosmic]	No	Ensembl ClinGen cosmic curated
rs1399980384 CA397568921	260	Q>R		No	ClinGen Ensembl
CA397568937 rs1458621162	261	F>S		No	gnomAD ClinGen
CA8274310 rs779579819	262	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs1432802538 CA397569012	264	P>S		No	ClinGen gnomAD
CA397569040 rs1365263042	265	V>A		No	gnomAD ClinGen
rs138344486 CA8274313	271	R>C		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA8274314 RCV002904678 rs144824741	271	R>H		No	ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
CA397569221 rs144824741	271	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1664101 rs374422816 CA8274315 RCV000996446	272	T>M	kidney [Cosmic]	No	1000Genomes ExAC gnomAD ClinGen cosmic curated ClinVar dbSNP
rs749485641 CA397569294	273	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs371122126 CA8274318	274	P>L		No	ClinGen ESP ExAC gnomAD
CA286815277 rs371122126	274	P>Q		No	ClinGen ESP ExAC gnomAD
CA8274321 rs200192711	276	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8274322 rs776070094	276	R>H		No	ClinGen ExAC TOPMed gnomAD
rs200240371 CA8274323 RCV000996447	284	E>D		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA286815328 rs980080391	284	E>Q		No	TOPMed ClinGen
CA8274325 rs754188967	286	Q>R		No	ClinGen ExAC gnomAD
CA397572159 rs1173934672	287	V>A		No	TOPMed gnomAD ClinGen
rs759202361 CA8274346	289	H>Y		No	ExAC gnomAD ClinGen
rs1466138935 CA397572251	291	P>R		No	ClinGen gnomAD
rs766973035 CA8274347	296	M>T		No	ClinGen ExAC TOPMed gnomAD
rs942259605 CA286820862	300	V>I		No	ClinGen TOPMed
rs756056105 CA8274349	304	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1567743819 CA397572624	305	H>Q		No	Ensembl ClinGen
rs763995304 CA8274350	305	H>Y		No	ExAC gnomAD ClinGen
CA8274353 rs144496567	309	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8274351 rs753658952	309	N>S		No	ExAC gnomAD ClinGen
CA8274354 rs746036358	310	V>E		No	ExAC gnomAD ClinGen
CA397572733 rs1312825788	310	V>M		No	ClinGen gnomAD
rs758726925 CA8274355	312	Q>H		No	ClinGen ExAC gnomAD
CA8274356 rs780252768	313	V>G		No	ExAC gnomAD ClinGen
rs911349544 CA286820890	316	N>I		No	ClinGen Ensembl
CA397572844 rs1233230117	316	N>K		No	ClinGen gnomAD
CA397572881 rs1488072681	318	S>N		No	ClinGen gnomAD
CA286820893 rs768794116	323	H>Y		No	Ensembl ClinGen
rs769196813 CA8274358	325	P>S		No	ClinGen ExAC gnomAD
rs769196813 CA397573014	325	P>T		No	ExAC gnomAD ClinGen
CA286820902 rs889175519	326	L>V		No	ClinGen TOPMed
rs1007812612 CA286820922	330	R>T		No	TOPMed ClinGen
rs1255972495 CA397573140	331	P>S		No	TOPMed gnomAD ClinGen
TCGA novel	332	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748695129 CA8274360	333	K>N		No	ClinGen ExAC TOPMed gnomAD
CA8274361 rs199759976	335	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8274362 rs773591601	335	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA397573213 rs199759976	335	R>W		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs760168956 CA8274366	340	Y>*		No	ExAC gnomAD ClinGen
CA8274365 rs775050809	340	Y>H		No	ClinGen ExAC gnomAD
rs1480237743 CA397573361	342	K>Q		No	TOPMed ClinGen
rs772956292 CA286820942	343	H>Y		No	Ensembl ClinGen
rs375671263 CA8274369 CA8274370	346	D>E		No	ClinGen ESP ExAC gnomAD
rs753656278 CA8274368	346	D>N		No	ClinGen ExAC gnomAD
rs368082276 CA286820951	348	V>M		No	ClinGen ESP TOPMed gnomAD
CA397574161 rs1471573005	355	G>A		No	gnomAD ClinGen
rs761814054 CA8274386	357	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1198784083 CA397574299	361	Q>H		No	TOPMed ClinGen
CA397574305 rs1391405203	362	A>T		No	gnomAD ClinGen
rs1270118911 CA397574350	366	R>C		No	TOPMed ClinGen
CA286821859 rs1035037159	366	R>H		No	ClinGen gnomAD
rs766201531 CA8274390	370	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA397574467 rs1299942198	372	S>R		No	gnomAD ClinGen
TCGA novel	374	V>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8274391 rs751675412	374	V>L		No	ExAC gnomAD ClinGen
CA397574485 rs751675412	374	V>M		No	ExAC gnomAD ClinGen
rs756599301 CA8274395	377	G>A		No	ExAC gnomAD ClinGen
CA8274394 rs141637051	377	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8274397 rs749796006	378	V>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	381	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397574690 rs1433782478	384	L>P		No	TOPMed ClinGen
rs771228095 CA8274398	387	S>G		No	ExAC gnomAD ClinGen
rs201915095 CA286821934	387	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8274403 rs376458796	391	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs773221674 CA397574861	392	E>A		No	ClinGen ExAC TOPMed gnomAD
rs773221674 CA8274405	392	E>G		No	ExAC TOPMed gnomAD ClinGen
CA8274404 rs769851018	392	E>K	Variant assessed as Somatic; 0.0001391 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8274406 rs763001328	393	A>V		No	ClinGen ExAC TOPMed gnomAD
CA8274409 rs759653539	394	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1305891278 CA397574928	395	A>S		No	gnomAD ClinGen
rs752766333 CA8274411	395	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA397574948 rs1274224994	397	T>A		No	gnomAD ClinGen
CA8274413 rs372119519	398	S>N		No	ClinGen ExAC gnomAD
rs757812531 CA8274415	403	R>C		No	ExAC TOPMed gnomAD ClinGen
CA397575025 rs779114899	403	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8274416 rs779114899	403	R>P		No	ExAC TOPMed gnomAD ClinGen
rs1202600405 CA397575039	404	M>I		No	ClinGen gnomAD
rs1477407444 CA397575220	413	R>C		No	ClinGen gnomAD
rs1304021302 CA397575225	413	R>H		No	TOPMed ClinGen
CA8274422 rs769375407	418	F>L		No	ExAC TOPMed gnomAD ClinGen
CA397575507 rs1392401892	423	T>A		No	ClinGen TOPMed
CA286822089 rs755274632	423	T>I		No	ClinGen Ensembl
CA8274426 rs774001411	426	L>P		No	ExAC gnomAD ClinGen
rs1449321342 CA397575597	427	P>L		No	ClinGen TOPMed
CA397575606 rs1329233658	428	L>V		No	gnomAD ClinGen
CA8274428 rs767217820	430	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
CA8274430 rs149997779	432	S>G		No	ESP ExAC ClinGen
CA8274431 rs764118664	432	S>I		No	ClinGen ExAC gnomAD
rs757681136 CA8274433	433	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
CA8274435 rs1057335 VAR_013256 RCV000242862	434	R>K		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA397575745 rs1483953115	436	P>L		No	TOPMed ClinGen
CA286822174 rs202177313	438	P>L		No	Ensembl ClinGen
CA397575756 rs1194868014	438	P>T		No	gnomAD ClinGen
rs370597102 CA8274436	441	P>L		No	ESP ExAC TOPMed gnomAD ClinGen
CA397575810 rs1567745209	441	P>T		No	ClinGen Ensembl
CA286822186 rs1056592393	442	R>Q		No	ClinGen TOPMed gnomAD
rs780579622 CA8274437	442	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1388322329 CA397575865	444	L>R		No	gnomAD ClinGen
rs1363805426 CA397575972	449	D>V		No	ClinGen gnomAD
CA8274441 rs748885179	450	S>F		No	ClinGen ExAC gnomAD
CA8274443 rs143256930	451	P>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA397576009 rs143256930	451	P>R		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs57360598 VAR_061792 CA8274442	451	P>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1306494236 CA397576018	452	G>S		No	TOPMed ClinGen
CA8274445 rs771850782	453	N>I		No	ClinGen ExAC TOPMed gnomAD
rs763797030 CA286822251	453	N>K		No	Ensembl ClinGen
CA397576046 rs771850782	453	N>S		No	ExAC TOPMed gnomAD ClinGen
rs775293903 CA8274446	454	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1167486932 CA397576093	455	D>V		No	ClinGen TOPMed
rs1422199541 CA397576099	456	F>I		No	ClinGen TOPMed
CA8274447 rs141153217	456	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8274448 rs764347515	457	L>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs1261503198 CA397576125	458	Q>K		No	gnomAD ClinGen
rs776681200 CA8274449	458	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs762021412 CA8274450	459	S>R		No	ClinGen ExAC gnomAD
rs1185756157 CA397576151	459	S>T		No	ClinGen gnomAD
rs765236572 CA8274451	460	L>M		No	ExAC TOPMed gnomAD ClinGen
rs371013906 CA8274453	462	G>A		No	ESP ExAC TOPMed gnomAD ClinGen
CA397576207 rs371013906	462	G>D		No	ESP ExAC TOPMed gnomAD ClinGen
CA8274452 rs367964307	462	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs367964307 CA286822256	462	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs371013906 CA8274454	462	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs566749778 CA8274455	463	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs755809297 CA286822281	465	R>C		No	ExAC TOPMed gnomAD ClinGen
rs755809297 CA8274456	465	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8274457 rs375490272	465	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs577213142 CA8274460	466	G>E		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs144890920 CA8274459	466	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs745778434 CA8274461	467	D>E		No	ExAC gnomAD ClinGen
rs1218570260 CA397576348	471	G>S		No	gnomAD ClinGen
rs372733955 CA8274465	472	P>A		No	ESP ExAC gnomAD ClinGen
TCGA novel	472	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1198910763 CA397576380	472	P>L		No	ClinGen TOPMed gnomAD
rs372733955 CA8274464	472	P>S		No	ESP ExAC gnomAD ClinGen
CA8274466 rs752842203	474	L>I		No	ClinGen ExAC TOPMed gnomAD
rs761954931 CA8274467	477	V>A		No	ExAC gnomAD ClinGen
rs1410974642 CA397576498	478	P>L		No	gnomAD ClinGen
rs1421049706 CA397576503	479	P>A		No	ClinGen gnomAD
TCGA novel	480	M>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397576519 rs1471562096	480	M>L		No	ClinGen gnomAD
TCGA novel	480	M>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397576567 rs1161287875	482	E>K		No	ClinGen gnomAD
rs1465150294 CA397576630	484	Y>C		No	TOPMed gnomAD ClinGen
CA8274468 rs769869981	485	P>S		No	ExAC gnomAD ClinGen
rs763488331 CA8274471 CA8274470	486	Q>H		No	ClinGen ExAC gnomAD
rs773199954 CA8274469	486	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1307744386 CA397576690	487	F>C		No	ClinGen TOPMed gnomAD
CA8274472 rs751965615	487	F>L		No	ClinGen ExAC gnomAD
CA397576684 rs1307744386	487	F>Y		No	TOPMed gnomAD ClinGen
CA8274473 rs759910550	488	G>R		No	ExAC TOPMed gnomAD ClinGen
CA8274474 rs556923918	489	S>N		No	1000Genomes ExAC gnomAD ClinGen

1 associated diseases with P08697

[MIM: 262850]: Alpha-2-plasmin inhibitor deficiency (APLID)

An autosomal recessive disorder resulting in severe hemorrhagic diathesis. {ECO:0000269|PubMed:10583218, ECO:0000269|PubMed:2572590}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal recessive disorder resulting in severe hemorrhagic diathesis. {ECO:0000269|PubMed:10583218, ECO:0000269|PubMed:2572590}. Note=The disease is caused by variants affecting the gene represented in this entry.

3 regional properties for P08697

Type	Name	Position	InterPro Accession
conserved_site	Serpin, conserved site	409 - 419	IPR023795
domain	Serpin domain	85 - 436	IPR023796
domain	Alpha2-antiplasmin, serpin domain	75 - 438	IPR033833

Functions

		Description
EC Number
Subcellular Localization	Secreted
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

8 GO annotations of cellular component

Name	Definition
blood microparticle	A phospholipid microvesicle that is derived from any of several cell types, such as platelets, blood cells, endothelial cells, or others, and contains membrane receptors as well as other proteins characteristic of the parental cell. Microparticles are heterogeneous in size, and are characterized as microvesicles free of nucleic acids.
cell surface	The external part of the cell wall and/or plasma membrane.
collagen-containing extracellular matrix	An extracellular matrix consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that provides not only essential physical scaffolding for the cellular constituents but can also initiate crucial biochemical and biomechanical cues required for tissue morphogenesis, differentiation and homeostasis. The components are secreted by cells in the vicinity and form a sheet underlying or overlying cells such as endothelial and epithelial cells.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
extracellular region	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
extracellular space	That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.
fibrinogen complex	A highly soluble, elongated protein complex found in blood plasma and involved in clot formation. It is converted into fibrin monomer by the action of thrombin. In the mouse, fibrinogen is a hexamer, 46 nm long and 9 nm maximal diameter, containing two sets of nonidentical chains (alpha, beta, and gamma) linked together by disulfide bonds.
platelet alpha granule lumen	The volume enclosed by the membrane of the platelet alpha granule.

4 GO annotations of molecular function

Name	Definition
endopeptidase inhibitor activity	Binds to and stops, prevents or reduces the activity of an endopeptidase, any enzyme that hydrolyzes nonterminal peptide bonds in polypeptides.
protease binding	Binding to a protease or a peptidase.
protein homodimerization activity	Binding to an identical protein to form a homodimer.
serine-type endopeptidase inhibitor activity	Binds to and stops, prevents or reduces the activity of serine-type endopeptidases, enzymes that catalyze the hydrolysis of nonterminal peptide bonds in a polypeptide chain; a serine residue (and a histidine residue) are at the active center of the enzyme.

17 GO annotations of biological process

Name	Definition
acute-phase response	An acute inflammatory response that involves non-antibody proteins whose concentrations in the plasma increase in response to infection or injury of homeothermic animals.
blood vessel morphogenesis	The process in which the anatomical structures of blood vessels are generated and organized. The blood vessel is the vasculature carrying blood.
collagen fibril organization	Any process that determines the size and arrangement of collagen fibrils within an extracellular matrix.
fibrinolysis	A process that solubilizes fibrin in the bloodstream of a multicellular organism, chiefly by the proteolytic action of plasmin.
maintenance of blood vessel diameter homeostasis by renin-angiotensin	The process in which the diameter of a blood vessel is changed due to activity of the renin-angiotensin system.
negative regulation of endopeptidase activity	Any process that decreases the frequency, rate or extent of endopeptidase activity, the endohydrolysis of peptide bonds within proteins.
negative regulation of fibrinolysis	Any process that stops, prevents, or reduces the frequency, rate or extent of fibrinolysis, an ongoing process that solubilizes fibrin, resulting in the removal of small blood clots.
negative regulation of plasminogen activation	Any process that decreases the rate, frequency or extent of plasminogen activation. Plasminogen activation is the process in which plasminogen is processed to plasmin.
positive regulation of cell differentiation	Any process that activates or increases the frequency, rate or extent of cell differentiation.
positive regulation of cell-cell adhesion mediated by cadherin	Any process that activates or increases the frequency, rate or extent of cell-cell adhesion mediated by cadherin.
positive regulation of collagen biosynthetic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of collagen, any of a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals.
positive regulation of ERK1 and ERK2 cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade.
positive regulation of JNK cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the JNK cascade.
positive regulation of smooth muscle cell proliferation	Any process that activates or increases the rate or extent of smooth muscle cell proliferation.
positive regulation of stress fiber assembly	Any process that activates or increases the frequency, rate or extent of the assembly of a stress fiber, a bundle of microfilaments and other proteins found in fibroblasts.
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 transforming growth factor beta production	Any process that activates or increases the frequency, rate, or extent of production of transforming growth factor-beta.

35 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9N2I2	SERPINA5	Plasma serine protease inhibitor	Bos taurus (Bovine)	PR
P41361	SERPINC1	Antithrombin-III	Bos taurus (Bovine)	PR
A6QPQ2	SERPINA3-8	Serpin A3-8	Bos taurus (Bovine)	PR
A2I7N1	SERPINA3-5	Serpin A3-5	Bos taurus (Bovine)	PR
Q1JPB0	SERPINB1	Leukocyte elastase inhibitor	Bos taurus (Bovine)	PR
P13909	SERPINE1	Plasminogen activator inhibitor 1	Bos taurus (Bovine)	PR
Q9TTE1	SERPINA3-1	Serpin A3-1	Bos taurus (Bovine)	PR
O73790	SERPINB10	Heterochromatin-associated protein MENT	Gallus gallus (Chicken)	PR
P01008	SERPINC1	Antithrombin-III	Homo sapiens (Human)	PR
Q96P15	SERPINB11	Serpin B11	Homo sapiens (Human)	PR
Q9UK55	SERPINA10	Protein Z-dependent protease inhibitor	Homo sapiens (Human)	PR
P05121	SERPINE1	Plasminogen activator inhibitor 1	Homo sapiens (Human)	PR
P05155	SERPING1	Plasma protease C1 inhibitor	Homo sapiens (Human)	PR
Q86WD7	SERPINA9	Serpin A9	Homo sapiens (Human)	PR
P01011	SERPINA3	Alpha-1-antichymotrypsin	Homo sapiens (Human)	PR
P07093	SERPINE2	Glia-derived nexin	Homo sapiens (Human)	PR
Q5SV42	Serpinb1c	Leukocyte elastase inhibitor C	Mus musculus (Mouse)	PR
Q07235	Serpine2	Glia-derived nexin	Mus musculus (Mouse)	PR
Q8CDC0	Serpinb13	Serpin B13	Mus musculus (Mouse)	PR
P22777	Serpine1	Plasminogen activator inhibitor 1	Mus musculus (Mouse)	PR
Q5I2A0	Serpina3g	Serine protease inhibitor A3G	Mus musculus (Mouse)	PR
Q9JK88	Serpini2	Serpin I2	Mus musculus (Mouse)	PR
P12388	Serpinb2	Plasminogen activator inhibitor 2, macrophage	Mus musculus (Mouse)	PR
P32261	Serpinc1	Antithrombin-III	Mus musculus (Mouse)	PR
Q9D154	Serpinb1a	Leukocyte elastase inhibitor A	Mus musculus (Mouse)	PR
Q8BYY9	Serpina3b	Serine protease inhibitor A3B	Mus musculus (Mouse)	PR
Q80X76	Serpina3f	Serine protease inhibitor A3F	Mus musculus (Mouse)	PR
P29524	Serpinb2	Plasminogen activator inhibitor 2 type A	Rattus norvegicus (Rat)	PR
P05545	Serpina3k	Serine protease inhibitor A3K	Rattus norvegicus (Rat)	PR
P07092	Serpine2	Glia-derived nexin	Rattus norvegicus (Rat)	PR
Q62975	Serpina10	Protein Z-dependent protease inhibitor	Rattus norvegicus (Rat)	PR
Q6P734	Serping1	Plasma protease C1 inhibitor	Rattus norvegicus (Rat)	PR
O48706	At2g26390	Serpin-Z3	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9M1T7	At3g45220	Serpin-Z4	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9ZQR6	At2g14540	Serpin-Z2	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MALLWGLLVL	SWSCLQGPCS	VFSPVSAMEP	LGRQLTSGPN	QEQVSPLTLL	KLGNQEPGGQ
70	80	90	100	110	120
TALKSPPGVC	SRDPTPEQTH	RLARAMMAFT	ADLFSLVAQT	STCPNLILSP	LSVALALSHL
130	140	150	160	170	180
ALGAQNHTLQ	RLQQVLHAGS	GPCLPHLLSR	LCQDLGPGAF	RLAARMYLQK	GFPIKEDFLE
190	200	210	220	230	240
QSEQLFGAKP	VSLTGKQEDD	LANINQWVKE	ATEGKIQEFL	SGLPEDTVLL	LLNAIHFQGF
250	260	270	280	290	300
WRNKFDPSLT	QRDSFHLDEQ	FTVPVEMMQA	RTYPLRWFLL	EQPEIQVAHF	PFKNNMSFVV
310	320	330	340	350	360
LVPTHFEWNV	SQVLANLSWD	TLHPPLVWER	PTKVRLPKLY	LKHQMDLVAT	LSQLGLQELF
370	380	390	400	410	420
QAPDLRGISE	QSLVVSGVQH	QSTLELSEVG	VEAAAATSIA	MSRMSLSSFS	VNRPFLFFIF
430	440	450	460	470	480
EDTTGLPLFV	GSVRNPNPSA	PRELKEQQDS	PGNKDFLQSL	KGFPRGDKLF	GPDLKLVPPM
490
EEDYPQFGSP	K