AiPD: Autoinhibited Protein Database

P27930

Gene name	IL1R2 (IL1RB)
Protein name	Interleukin-1 receptor type 2
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:7850
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-59 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-59 (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

2 structures for P27930

Entry ID	Method	Resolution	Chain	Position	Source
3O4O	X-ray	330 A	C	14-343	PDB
AF-P27930-F1	Predicted				AlphaFoldDB

384 variants for P27930

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA347924144 rs1577699333	2	L>F		No	ClinGen Ensembl
rs190338417 COSM1254750 CA1807631	3	R>C	oesophagus [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA1807632 rs761989298	3	R>H		No	ClinGen ExAC TOPMed gnomAD
CA347924149 rs761989298	3	R>L		No	ClinGen ExAC TOPMed gnomAD
CA347924147 rs190338417	3	R>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1458012863 CA347924152	4	L>*		No	ClinGen gnomAD
rs371324309 CA1807635	5	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA347924168 rs1342172104	6	V>G		No	ClinGen Ensembl
rs148522700 CA1807636	6	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA347924169 rs1379368252	7	L>M		No	ClinGen TOPMed
rs1303727800 CA347924172	7	L>W		No	ClinGen gnomAD
CA347924183 rs147339619	9	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs147339619 CA1807638	9	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1413468820 CA347924195	10	G>V		No	ClinGen gnomAD
rs147243599 CA1807639	11	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA347924207 rs1239271391	13	A>T		No	ClinGen TOPMed gnomAD
rs1330575844 CA347924217	14	F>S		No	ClinGen gnomAD
rs1283149013 CA347924225	15	T>I		No	ClinGen gnomAD
rs752385484 CA1807640	15	T>S		No	ClinGen ExAC gnomAD
rs758109682 CA1807641	17	Q>*		No	ClinGen ExAC gnomAD
rs777194990 CA1807642	18	P>L		No	ClinGen ExAC gnomAD
CA1807643 rs145285945	19	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1004602 rs145285945 CA1807644	19	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA1807646 rs749799156	21	H>P		No	ClinGen ExAC TOPMed gnomAD
CA347924262 rs1378732462	22	T>A		No	ClinGen TOPMed gnomAD
CA1807647 rs769041254	22	T>R		No	ClinGen ExAC TOPMed gnomAD
CA1807649 rs774646490	23	G>R		No	ClinGen ExAC gnomAD
CA1807648 rs774646490	23	G>W		No	ClinGen ExAC gnomAD
rs776644994 CA1807671	24	A>T		No	ClinGen ExAC TOPMed gnomAD
rs759448753 CA1807674	26	R>G		No	ClinGen ExAC TOPMed gnomAD
CA1807675 rs769630697	29	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA347924317 rs1299459804	29	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA347924326 rs1241967918	30	F>L		No	ClinGen gnomAD
CA1807676 rs371567278	31	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA347924330 rs1453370250	31	R>H		No	ClinGen TOPMed gnomAD
CA1807679 rs149708591	33	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs563050165 CA52883169	35	Y>H		No	ClinGen Ensembl
CA1807682 rs543401612	37	R>P		No	ClinGen ExAC gnomAD
rs543401612 CA1807681	37	R>Q		No	ClinGen ExAC gnomAD
rs145537257 CA1807680	37	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1475404272 CA347924372	38	E>*		No	ClinGen gnomAD
rs1475404272 CA347924370	38	E>K		No	ClinGen gnomAD
rs1166637193 CA347924375	38	E>V		No	ClinGen gnomAD
CA347924396 rs1204323202	41	L>P		No	ClinGen TOPMed
CA52883186 rs779320040	45	P>A		No	ClinGen ExAC gnomAD
CA1807684 rs779320040	45	P>S		No	ClinGen ExAC gnomAD
CA1807686 rs772776365	46	V>A		No	ClinGen ExAC TOPMed gnomAD
CA1807688 rs747233440	49	R>S		No	ClinGen ExAC TOPMed gnomAD
rs781271835 CA1807690	50	C>*		No	ClinGen ExAC TOPMed gnomAD
rs771059282 CA1807689	50	C>G		No	ClinGen ExAC gnomAD
CA347924455 rs1358309794 COSM199922	51	P>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA347924454 rs1268374624	51	P>S		No	ClinGen gnomAD
rs201762376 CA1807693	54	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs768426892 CA347924482	55	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA1807694 rs749271077	55	Y>C		No	ClinGen ExAC gnomAD
rs774198156 CA1807696	56	W>C		No	ClinGen ExAC TOPMed gnomAD
CA1807698 rs767099265	58	W>*		No	ClinGen ExAC gnomAD
rs1448741818 CA347924512	59	A>V		No	ClinGen Ensembl
CA347924518 rs1400902808	60	S>F		No	ClinGen TOPMed
RCV000896424 rs28362312 CA1807699 CA347924531	62	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD ClinVar dbSNP
CA1807701 rs374001314	64	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs753245222 CA1807702	64	R>H		No	ClinGen ExAC TOPMed gnomAD
rs753245222 CA347924540 COSM363874	64	R>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA1807703 rs753245222	64	R>P		No	ClinGen ExAC TOPMed gnomAD
CA347924575 rs1385173875	69	W>C		No	ClinGen gnomAD
CA347924580 rs1381454212	70	H>R		No	ClinGen gnomAD
rs1235785421 CA347924578	70	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1414485435 CA347924587	71	K>T		No	ClinGen gnomAD
TCGA novel	72	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347924596 rs751982105	72	N>I		No	ClinGen ExAC gnomAD
CA1807705 rs751982105	72	N>S		No	ClinGen ExAC gnomAD
CA1807707 rs781298497	74	S>A		No	ClinGen ExAC gnomAD
CA347924621 rs1285646881	76	R>T		No	ClinGen TOPMed
CA347924628 rs746138452	77	T>K		No	ClinGen ExAC TOPMed gnomAD
CA1807708 rs746138452	77	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs780163319 CA1807711	79	P>L		No	ClinGen ExAC gnomAD
rs1376942381 CA347924663	83	E>K		No	ClinGen TOPMed
rs1203755411	83	E>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1271431487 CA347924674	84	T>I		No	ClinGen TOPMed
rs145651311 CA1807715	85	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs139061430 CA1807714	85	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1295970737 CA347924681	86	M>L		No	ClinGen TOPMed
CA347924682 rs1295970737	86	M>V		No	ClinGen TOPMed
CA1807716 rs375271905	88	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA1807718 rs760435724	91	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1027653657 CA52883305	91	G>V		No	ClinGen Ensembl
CA1807720 rs776289279	94	W>L		No	ClinGen ExAC gnomAD
rs765986681 CA1807719	94	W>R		No	ClinGen ExAC
CA52883312 rs936550727	98	A>G		No	ClinGen TOPMed
rs1475789248 CA347924768	99	L>F		No	ClinGen TOPMed
rs763492037 CA1807721	99	L>S		No	ClinGen ExAC gnomAD
rs952172355 CA347924773	100	Q>P		No	ClinGen gnomAD
rs952172355 CA52883316	100	Q>R		No	ClinGen gnomAD
rs1577702866 CA347924788	102	D>G		No	ClinGen Ensembl
CA347924796 rs1312235323	103	S>C		No	ClinGen TOPMed gnomAD
rs1312235323 CA347924797	103	S>F		No	ClinGen TOPMed gnomAD
CA347924803 rs1411758772	104	G>D		No	ClinGen gnomAD
rs751909955 CA1807723	106	Y>D		No	ClinGen ExAC gnomAD
rs372743702 CA347924817	107	V>F		No	ClinGen ESP ExAC gnomAD
CA1807725 rs372743702	107	V>I		No	ClinGen ESP ExAC gnomAD
CA52883334 rs943802650	108	C>R		No	ClinGen TOPMed
rs1349008752 CA347924830	109	T>A		No	ClinGen gnomAD
CA52883338 rs910614022	109	T>I		No	ClinGen Ensembl
CA1807755 rs548206510	116	C>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs190112469 CA347925776 CA52886624	119	M>I		No	ClinGen 1000Genomes TOPMed gnomAD
rs746839384 CA1807756	120	S>C		No	ClinGen ExAC TOPMed gnomAD
rs1215486104 CA347925798	121	I>T		No	ClinGen TOPMed gnomAD
CA347925810 rs1031997209	122	E>G		No	ClinGen TOPMed gnomAD
rs1031997209 CA52886648	122	E>V		No	ClinGen TOPMed gnomAD
CA52886656 rs757210661	123	L>P		No	ClinGen TOPMed
CA1807757 rs770663605	123	L>V		No	ClinGen ExAC gnomAD
rs1274497226 CA347925848	125	V>G		No	ClinGen TOPMed gnomAD
TCGA novel	128	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780957914 CA1807758	128	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1212654339 CA347925907	129	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA347925918 rs1250949344	130	D>V		No	ClinGen gnomAD
rs1486742225 CA347925930	131	A>D		No	ClinGen gnomAD
CA347925943 rs1186838336	132	F>S		No	ClinGen gnomAD
CA1807760 rs148689791	134	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1163092595 CA347925990	136	I>T		No	ClinGen gnomAD
CA1807762 rs762159296	137	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1257813904 CA347926007	139	P>A		No	ClinGen TOPMed
rs144052963 CA1807764	139	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1257813904 CA347926008	139	P>S		No	ClinGen TOPMed
rs766781084 CA1807766	140	Q>R		No	ClinGen ExAC gnomAD
rs1355502883 CA347926040	144	L>S		No	ClinGen TOPMed gnomAD
rs965122666 CA52886700	144	L>V		No	ClinGen TOPMed
rs1355502883 CA347926041	144	L>W		No	ClinGen TOPMed gnomAD
rs754047188 CA1807768	145	S>A		No	ClinGen ExAC
CA1807769 rs374741053	146	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA1807770 rs374741053	146	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA347926063 rs1216241720	148	G>A		No	ClinGen gnomAD
rs567036098 CA1807771	148	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA1807772 rs182332579	149	V>I		No	ClinGen 1000Genomes ExAC gnomAD
COSM1210544 CA52886725 rs182332579	149	V>L	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA347926094 rs1189940493	153	P>L		No	ClinGen gnomAD
TCGA novel	154	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1474935742 CA347926106	155	L>P		No	ClinGen gnomAD
rs1185827366 CA347926113	156	S>T		No	ClinGen gnomAD
COSM1481790 rs367683772 CA1807775	160	R>C	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs143112573 CA1807776 COSM175034	160	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA1807777 rs143112573	160	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs923439654 CA52886749	162	K>Q		No	ClinGen TOPMed
CA1807779 rs61735302	163	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	165	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1807781 rs529315850	165	V>M		No	ClinGen ExAC TOPMed gnomAD
rs773748335 CA1807782	168	Q>K		No	ClinGen ExAC gnomAD
rs1281853866 CA347926192	168	Q>R		No	ClinGen gnomAD
rs747575549 CA1807783	169	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA347926198 rs1386614786	169	W>R		No	ClinGen TOPMed
CA347926210 rs1224509461 CA347926211	170	Y>*		No	ClinGen TOPMed gnomAD
CA347926217 rs1306075761	171	K>M		No	ClinGen TOPMed gnomAD
CA1807784 rs371661087	171	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	173	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1210545 CA52889471 rs965350085	175	L>I	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA1807824 rs200398963	177	D>E		No	ClinGen ExAC gnomAD
rs866064318 CA52889475	177	D>N		No	ClinGen Ensembl
TCGA novel	179	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347926290 rs1215407731	180	N>I		No	ClinGen TOPMed
rs778339919 CA1807826	180	N>K		No	ClinGen ExAC gnomAD
rs28385682 VAR_019132 CA1807827 RCV000882907	181	E>K		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1031472565 CA52889498	183	F>S		No	ClinGen Ensembl
TCGA novel	184	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757725278 CA1807828	185	S>N		No	ClinGen ExAC gnomAD
rs1577724073 CA347926326	186	V>M		No	ClinGen Ensembl
CA52889518 rs866208987	187	R>G		No	ClinGen gnomAD
CA347926335 rs1214068538	187	R>M		No	ClinGen gnomAD
rs866208987 CA347926332	187	R>W		No	ClinGen gnomAD
rs781638818 CA1807829	188	G>V		No	ClinGen ExAC gnomAD
rs770178675 CA1807831	189	T>S		No	ClinGen ExAC gnomAD
rs1442890229 CA347926366	192	L>F		No	ClinGen TOPMed
rs780347152 CA1807832	192	L>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	192	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1395106195 CA347926369	193	L>V		No	ClinGen TOPMed
rs201409941 CA1807834 COSM1494496	194	V>I	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs990034677 CA52889556	196	D>E		No	ClinGen gnomAD
CA1807836 rs566165327	196	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA1807837 rs772327590	197	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs916782752 CA52889558	199	L>P		No	ClinGen TOPMed gnomAD
CA1807839 rs760597900	200	E>*		No	ClinGen ExAC TOPMed gnomAD
rs1254102442 CA347926412	200	E>A		No	ClinGen TOPMed
rs760597900 CA347926408	200	E>K		No	ClinGen ExAC TOPMed gnomAD
CA52889562 rs948234717	201	D>N		No	ClinGen Ensembl
rs150822040 CA1807840	202	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA1807841 COSM714954 rs753591681	204	Y>C	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA1807843 rs764905517	206	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs138667044 CA1807844	206	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA1807845 rs138667044	206	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs538224389 CA347926455	207	C>F		No	ClinGen 1000Genomes ExAC
rs1354426500 CA347926453	207	C>R		No	ClinGen gnomAD
rs538224389 CA1807846	207	C>Y		No	ClinGen 1000Genomes ExAC
rs1293774807 CA347926460	208	V>I		No	ClinGen TOPMed
rs1207330165 CA347926479	211	F>S		No	ClinGen TOPMed gnomAD
CA1807847 rs370953333	213	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1285373959 CA347926491	213	H>Y		No	ClinGen gnomAD
rs780406755 CA1807849	214	E>K		No	ClinGen ExAC TOPMed
CA1807851 rs768958607	217	Q>K		No	ClinGen ExAC gnomAD
CA347926528 rs1187980459	218	Y>C		No	ClinGen TOPMed gnomAD
rs1187980459 CA347926527	218	Y>S		No	ClinGen TOPMed gnomAD
rs375907194 CA52889642	219	N>S		No	ClinGen ESP
rs139319473 CA1807852	221	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs139319473 CA1807853	221	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs760605159 CA1807856	222	R>K		No	ClinGen ExAC gnomAD
rs965928934 CA52889687	224	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs111549937 CA1807859	227	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs570040319 COSM379222 CA1807860	227	R>H	lung endometrium Variant assessed as Somatic; 4.628e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs570040319 CA1807861	227	R>L		No	ClinGen ExAC TOPMed gnomAD
CA1807862 rs143212247	229	K>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA347926616 rs1254622606	230	K>R		No	ClinGen gnomAD
rs772911553	233	E>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1454684686 CA347926645	234	E>Q		No	ClinGen gnomAD
rs754295491 CA1807885	235	T>N		No	ClinGen ExAC TOPMed gnomAD
rs754295491 CA1807886	235	T>S		No	ClinGen ExAC TOPMed gnomAD
CA347926658 rs1276636132	236	I>V		No	ClinGen TOPMed
TCGA novel	239	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347926687 rs1168504732	240	I>T		No	ClinGen gnomAD
rs758651036 CA347926697	242	P>L		No	ClinGen ExAC TOPMed gnomAD
rs758651036 CA1807891	242	P>R		No	ClinGen ExAC TOPMed gnomAD
CA1807890 rs369886122	242	P>S		No	ClinGen ESP ExAC gnomAD
CA1807896 rs369134425	243	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA1807895 rs369134425	243	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA1807894 rs369134425	243	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1344059740 CA347926703	244	K>E		No	ClinGen TOPMed
rs1299836017 CA347926711	245	T>A		No	ClinGen TOPMed gnomAD
rs1299836017 CA347926712	245	T>S		No	ClinGen TOPMed gnomAD
CA1807898 rs183091210	246	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs375661356 CA1807897	246	I>V		No	ClinGen ESP ExAC gnomAD
CA1807899 rs749113919	247	S>L		No	ClinGen ExAC gnomAD
CA1807900 rs768536544	248	A>G		No	ClinGen ExAC gnomAD
CA52891895 rs958988768	248	A>T		No	ClinGen Ensembl
CA1807901 rs199970902	249	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA1807928 rs751969491	251	G>V		No	ClinGen ExAC gnomAD
rs1298141595 CA347926768 CA347926767	253	R>S		No	ClinGen gnomAD
rs1340060044 CA347926769	254	L>M		No	ClinGen Ensembl
rs1284464129 CA347926772	254	L>P		No	ClinGen TOPMed
CA347926788 rs1332620149	257	P>A		No	ClinGen TOPMed
rs142547344 CA1807931	257	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA52894087 rs142547344	257	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA1807932 rs756165966	259	K>E		No	ClinGen ExAC gnomAD
TCGA novel	259	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1807933 rs780167021	260	V>A		No	ClinGen ExAC gnomAD
CA347926809 rs780167021	260	V>G		No	ClinGen ExAC gnomAD
CA52894100 rs960151581	260	V>M		No	ClinGen TOPMed gnomAD
rs753708553 CA1807934	262	L>Q		No	ClinGen ExAC gnomAD
TCGA novel	264	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1807936 rs369088604	265	G>R		No	ClinGen ExAC gnomAD
CA52894130 COSM569244 rs369088604	265	G>S	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1487265084 CA347926843	266	T>I		No	ClinGen gnomAD
rs1213185442 CA347926861	269	T>I		No	ClinGen TOPMed gnomAD
rs1258287483 CA347926866	270	T>N		No	ClinGen TOPMed gnomAD
rs1258287483 CA347926867	270	T>S		No	ClinGen TOPMed gnomAD
rs1180365428 CA347926876	271	M>I		No	ClinGen gnomAD
CA1807938 rs771800959	271	M>T		No	ClinGen ExAC gnomAD
rs1472599771 CA347926882	273	W>R		No	ClinGen TOPMed
rs1366432921 CA347926897	274	W>*		No	ClinGen TOPMed
CA52894167 rs992644367	275	T>A		No	ClinGen TOPMed
CA1807939 rs777541472	275	T>M		No	ClinGen ExAC TOPMed
rs770557266 CA1807941	277	N>S		No	ClinGen ExAC TOPMed gnomAD
rs367669711 CA1807942	278	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA347926929 rs1437111732	279	T>I		No	ClinGen gnomAD
CA347926936 rs1230727678	280	H>Q		No	ClinGen Ensembl
rs867840122 CA52894187	280	H>Y		No	ClinGen Ensembl
CA1807945 rs774542178	281	I>M		No	ClinGen ExAC gnomAD
CA1807946 rs370345051	282	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA52894234 rs551509426	283	S>I		No	ClinGen 1000Genomes
TCGA novel	283	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs147914094 CA1807949	283	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA347926957 rs1374993668 COSM1326029	284	A>T	ovary [Cosmic]	No	ClinGen cosmic curated gnomAD
rs56075526 CA347926970	286	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754830691 CA1807952	286	P>L		No	ClinGen ExAC TOPMed gnomAD
rs56075526 CA1807950	286	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs56075526 CA1807951	286	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1236364089 CA347926980	288	G>R		No	ClinGen TOPMed gnomAD
rs1577736233 CA347926984	288	G>V		No	ClinGen Ensembl
rs550245933 CA1807955	289	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs374536258 CA1807957	289	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs550245933 CA1807956	289	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs780802660 CA1807959	290	V>M		No	ClinGen ExAC TOPMed gnomAD
rs745417232 CA1807960	291	T>S		No	ClinGen ExAC gnomAD
CA1807962 rs3218976	292	E>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_019133 CA1807963 rs3218976	292	E>K		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA1807964 rs772421571	293	G>R		No	ClinGen ExAC gnomAD
rs766617649 CA1807967	294	P>S		No	ClinGen ExAC gnomAD
CA1807968 rs776757109 COSM94499	295	R>C	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs759636734 CA1807969 COSM1398480	295	R>H	large_intestine Variant assessed as Somatic; 4.625e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1559430664 CA347927023	296	Q>L		No	ClinGen Ensembl
CA52895782 rs899622582	297	E>*		No	ClinGen TOPMed gnomAD
CA1807994 rs764160421	297	E>G		No	ClinGen ExAC gnomAD
CA347927042 rs899622582	297	E>K		No	ClinGen TOPMed gnomAD
rs1434187355 CA347927051	298	Y>C		No	ClinGen gnomAD
CA52895794 rs998422530	298	Y>H		No	ClinGen Ensembl
rs1272043202 CA347927087	303	E>*		No	ClinGen gnomAD
CA347927092 rs1341247538	303	E>D		No	ClinGen TOPMed gnomAD
rs200467327 CA1807997	305	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA1807998 rs761679495	306	I>F		No	ClinGen ExAC gnomAD
CA347927108 rs761679495	306	I>L		No	ClinGen ExAC gnomAD
rs201032704 CA1807999	306	I>T		No	ClinGen ExAC
rs1289586287 CA347927125	308	V>G		No	ClinGen gnomAD
CA52895818 rs139885028	309	P>L		No	ClinGen ESP TOPMed gnomAD
CA1808000 rs566880360	309	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA347927135 rs1264466024	310	L>W		No	ClinGen gnomAD
rs144482163 CA1808001	311	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779567286 CA1808002	314	P>S		No	ClinGen ExAC gnomAD
CA1808003 rs753377905	316	T>I		No	ClinGen ExAC gnomAD
rs753377905 CA347927174	316	T>K		No	ClinGen ExAC gnomAD
rs1475977824 CA347927171	316	T>P		No	ClinGen gnomAD
CA1808004 rs142489461	317	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs778229564 CA1808005	318	E>G		No	ClinGen ExAC gnomAD
CA347927183 rs1389715108	318	E>Q		No	ClinGen gnomAD
rs1320233870 CA347927190	319	D>H		No	ClinGen gnomAD
rs1220453754 CA347927213	322	M>L		No	ClinGen gnomAD
TCGA novel	323	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347927239 rs1399485114	325	K>*		No	ClinGen gnomAD
rs910662097 CA52895873	325	K>T		No	ClinGen TOPMed gnomAD
rs747569608 CA1808006	326	C>R		No	ClinGen ExAC gnomAD
rs781410987 CA1808008	327	V>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	328	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs975973343 CA52895897	329	H>R		No	ClinGen TOPMed gnomAD
CA1808010 rs151307899	329	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs929117282 CA52895926	332	L>M		No	ClinGen TOPMed
rs1272326460 CA347927284	332	L>R		No	ClinGen TOPMed
rs1215328853 CA347927311	336	T>A		No	ClinGen gnomAD
rs775603167 CA1808011	336	T>I		No	ClinGen ExAC TOPMed gnomAD
CA347927312 rs1215328853	336	T>S		No	ClinGen gnomAD
rs147924293 CA1808013	338	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA1808014 rs139357503	338	R>H		No	ClinGen 1000Genomes ExAC gnomAD
CA1808015 rs139357503	338	R>P		No	ClinGen 1000Genomes ExAC gnomAD
CA347927323 rs1381197473	339	T>P		No	ClinGen TOPMed
CA347927344 rs1294872520	342	K>M		No	ClinGen TOPMed
CA347927355 rs1441195989	343	E>D		No	ClinGen TOPMed
CA347927373 rs1233426399	344	A>D		No	ClinGen gnomAD
rs554382459 CA1808017	344	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1233426399 CA347927371	344	A>V		No	ClinGen gnomAD
CA1808043 rs28362316	346	S>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1808044 rs766020542	347	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1457164149 CA347927425	348	F>L		No	ClinGen TOPMed gnomAD
CA347927479 rs1350530352	352	I>T		No	ClinGen TOPMed
CA347927487 rs1323243956	353	V>L		No	ClinGen TOPMed gnomAD
CA52897595 rs963258616	355	A>V		No	ClinGen Ensembl
rs780634571 CA1808047	356	P>L		No	ClinGen ExAC gnomAD
CA1808046 rs756425037	356	P>S		No	ClinGen ExAC gnomAD
CA347927554 rs1222979121	358	S>*		No	ClinGen gnomAD
CA1808049 rs755265601	360	A>G		No	ClinGen ExAC gnomAD
CA347927588 rs1392214525	361	F>S		No	ClinGen TOPMed
rs1467214937 CA347927601	362	L>V		No	ClinGen gnomAD
rs181563229 CA52897651	363	V>I		No	ClinGen 1000Genomes TOPMed gnomAD
rs145225100 CA52897656	364	L>F		No	ClinGen ESP
rs1559433181 CA347927632	364	L>W		No	ClinGen Ensembl
rs1295648242 CA347927645	365	G>E		No	ClinGen gnomAD
rs748144607 CA1808052	365	G>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	365	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750497461	366	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA1808053 rs772243120	366	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	367	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	367	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773007739 CA1808054	367	I>R		No	ClinGen ExAC gnomAD
CA52897700 rs971344125	370	H>P		No	ClinGen Ensembl
CA1808055 rs747033846	370	H>Y		No	ClinGen ExAC gnomAD
CA1808057 rs776422051	372	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1808056 rs148258277 COSM295388	372	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA347927786 rs1316912445	374	K>I		No	ClinGen gnomAD
rs1308766941 CA347927777	374	K>Q		No	ClinGen TOPMed
CA347927850 rs1227224302	378	G>E		No	ClinGen TOPMed
CA1808060 rs775166725	380	A>T		No	ClinGen ExAC gnomAD
CA1808062 rs763721166	381	D>G		No	ClinGen ExAC TOPMed gnomAD
rs554415532 CA1808061	381	D>H		No	ClinGen 1000Genomes ExAC gnomAD
CA1808063 rs138160797	382	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA347927893 rs138160797	382	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs756650262 CA1808064	382	G>V		No	ClinGen ExAC TOPMed gnomAD
CA1808066 rs754277552	384	T>I		No	ClinGen ExAC gnomAD
CA347927920 rs1293492903	385	V>M		No	ClinGen TOPMed
rs577035983 CA1808067	387	W>*		No	ClinGen 1000Genomes ExAC gnomAD
rs1052308003 CA52897779	388	P>H		No	ClinGen TOPMed gnomAD
CA1808068 rs779254970	388	P>S		No	ClinGen ExAC gnomAD
CA347927967 rs371938220	389	H>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA1808069 rs371938220	389	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA347928009 rs1169462131	392	D>G		No	ClinGen TOPMed
rs866920386 CA52897791	393	F>L		No	ClinGen Ensembl
rs758403030 CA1808070	394	Q>*		No	ClinGen ExAC gnomAD
CA1808071 rs777909822	396	Y>C		No	ClinGen ExAC gnomAD
CA52897800 rs368078017	397	P>H		No	ClinGen ExAC gnomAD
CA1808072 rs368078017	397	P>R		No	ClinGen ExAC gnomAD
CA1808073 rs770872788	398	K>R		No	ClinGen ExAC TOPMed gnomAD
CA347928090 rs1314379655	399	K>R		No	ClinGen TOPMed gnomAD

No associated diseases with P27930

9 regional properties for P27930

Type	Name	Position	InterPro Accession
domain	Immunoglobulin subtype 2	41 - 115	IPR003598-1
domain	Immunoglobulin subtype 2	143 - 214	IPR003598-2
domain	Immunoglobulin subtype	35 - 126	IPR003599-1
domain	Immunoglobulin subtype	137 - 229	IPR003599-2
domain	Immunoglobulin subtype	243 - 342	IPR003599-3
domain	Immunoglobulin-like domain	18 - 124	IPR007110-1
domain	Immunoglobulin-like domain	134 - 223	IPR007110-2
domain	Immunoglobulin-like domain	237 - 349	IPR007110-3
domain	Immunoglobulin	242 - 340	IPR013151

Functions

		Description
EC Number
Subcellular Localization	[Isoform Short]: Secreted ;
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.
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.
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
interleukin-1 binding	Binding to interleukin-1.
interleukin-1 receptor activity	Combining with interleukin-1 to initiate a change in cell activity. Interleukin-1 is produced mainly by activated macrophages and is involved in the inflammatory response.
interleukin-1, type II, blocking receptor activity	Combining with interleukin-1 to initiate a change in cell activity by inhibiting the activity of type I interleukin receptors.

6 GO annotations of biological process

Name	Definition
immune response	Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat.
negative regulation of cytokine production involved in inflammatory response	Any process that stops, prevents or reduces the frequency, rate or extent of cytokine production involved in inflammatory response.
negative regulation of interleukin-1 alpha production	Any process that stops, prevents, or reduces the frequency, rate, or extent of interleukin-1 alpha production.
negative regulation of interleukin-1-mediated signaling pathway	Any process that stops, prevents or reduces the frequency, rate or extent of interleukin-1-mediated signaling pathway.
negative regulation of protein processing	Any process that decreases the rate, frequency or extent of protein maturation by peptide bond cleavage.
protein processing	Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. Protein maturation is the process leading to the attainment of the full functional capacity of a protein.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9NPH3	IL1RAP	Interleukin-1 receptor accessory protein	Homo sapiens (Human)	PR
P14778	IL1R1	Interleukin-1 receptor type 1	Homo sapiens (Human)	PR
P13504	Il1r1	Interleukin-1 receptor type 1	Mus musculus (Mouse)	PR
Q9Z2B1	Il18rap	Interleukin-18 receptor accessory protein	Mus musculus (Mouse)	PR
P14719	Il1rl1	Interleukin-1 receptor-like 1	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MLRLYVLVMG	VSAFTLQPAA	HTGAARSCRF	RGRHYKREFR	LEGEPVALRC	PQVPYWLWAS
70	80	90	100	110	120
VSPRINLTWH	KNDSARTVPG	EEETRMWAQD	GALWLLPALQ	EDSGTYVCTT	RNASYCDKMS
130	140	150	160	170	180
IELRVFENTD	AFLPFISYPQ	ILTLSTSGVL	VCPDLSEFTR	DKTDVKIQWY	KDSLLLDKDN
190	200	210	220	230	240
EKFLSVRGTT	HLLVHDVALE	DAGYYRCVLT	FAHEGQQYNI	TRSIELRIKK	KKEETIPVII
250	260	270	280	290	300
SPLKTISASL	GSRLTIPCKV	FLGTGTPLTT	MLWWTANDTH	IESAYPGGRV	TEGPRQEYSE
310	320	330	340	350	360
NNENYIEVPL	IFDPVTREDL	HMDFKCVVHN	TLSFQTLRTT	VKEASSTFSW	GIVLAPLSLA
370	380	390
FLVLGGIWMH	RRCKHRTGKA	DGLTVLWPHH	QDFQSYPK