AiPD: Autoinhibited Protein Database

Q8NC67

Gene name	NETO2 (BTCL2, UNQ1926/PRO4401)
Protein name	Neuropilin and tolloid-like protein 2
Names	Brain-specific transmembrane protein containing 2 CUB and 1 LDL-receptor class A domains protein 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:81831
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

381-476 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

381-476 (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 Q8NC67

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8NC67-F1	Predicted				AlphaFoldDB

379 variants for Q8NC67

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
COSM1178710 rs193920943 CA174644 RCV000149248	511	R>T	Malignant tumor of prostate prostate [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
CA396098871 rs1347577487	5	R>L		No	ClinGen TOPMed
rs1209246227 CA396098865	6	L>R		No	ClinGen TOPMed
CA280576449 rs1048514414	8	S>T		No	ClinGen TOPMed
CA280576446 rs948871505	10	L>F		No	ClinGen TOPMed gnomAD
rs956043233 CA280576444	11	K>N		No	ClinGen TOPMed
CA396098833 rs1470910485	12	V>M		No	ClinGen TOPMed
rs1383217549 CA396098112	13	L>F		No	ClinGen TOPMed gnomAD
rs1278256850 COSM3361770 CA396098016	19	V>A	kidney [Cosmic]	No	ClinGen cosmic curated gnomAD
rs747997280 CA8039703	19	V>I		No	ClinGen ExAC
CA8039702 rs778794648	20	V>M		No	ClinGen ExAC TOPMed gnomAD
CA280571669 rs868624249	24	A>V		No	ClinGen Ensembl
rs766128670 CA8039699	25	V>M		No	ClinGen ExAC TOPMed gnomAD
CA396097874 rs1299351475	26	A>G		No	ClinGen gnomAD
rs1351696667 CA396097894	26	A>S		No	ClinGen gnomAD
rs766229189 CA280571668	27	Q>*		No	ClinGen Ensembl
rs945398960 CA280571667	27	Q>R		No	ClinGen TOPMed
TCGA novel	29	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs948778860 CA280570500	31	D>V		No	ClinGen TOPMed gnomAD
CA396097083 rs1422088911	32	G>R		No	ClinGen gnomAD
CA396097075 rs1413192689	33	Q>K		No	ClinGen gnomAD
rs148307258 CA8039664	35	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	36	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772236903 CA8039663	36	G>V		No	ClinGen ExAC gnomAD
rs1351587608 CA396097006	38	K>E		No	ClinGen gnomAD
CA280570495 rs989255418	38	K>N		No	ClinGen TOPMed gnomAD
CA396096978 rs1486407790	39	H>Q		No	ClinGen gnomAD
rs761799257 CA8039662	41	P>A		No	ClinGen ExAC gnomAD
CA396096925 rs774409141	44	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs774409141 CA8039661	44	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA8039660 rs768487858	45	C>Y		No	ClinGen ExAC gnomAD
CA8039659 rs749167255	46	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1362577601 CA396096850	49	V>I		No	ClinGen gnomAD
rs1308137797 COSM970816 CA396096837	50	R>*	Variant assessed as Somatic; impact. endometrium breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs780023143 CA8039658	50	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs769660317 CA8039657	52	S>C		No	ClinGen ExAC TOPMed gnomAD
rs369674880 CA8039656	53	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs369674880 CA280570439	53	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	55	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396096809 rs780676177	55	G>R		No	ClinGen ExAC gnomAD
rs780676177 CA8039655	55	G>S		No	ClinGen ExAC gnomAD
CA8039654 rs756857144	56	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs925167219 CA280570435	57	F>L		No	ClinGen TOPMed
rs1350436820 CA396096787	58	A>S		No	ClinGen gnomAD
rs751020123 CA8039653	59	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs754296113 CA8039651	61	N>D		No	ClinGen ExAC TOPMed gnomAD
rs754296113 CA8039650	61	N>H		No	ClinGen ExAC TOPMed gnomAD
CA396096770 rs1188175447	61	N>S		No	ClinGen gnomAD
CA396096745 rs1264328579	64	D>E		No	ClinGen TOPMed gnomAD
CA396096742 rs1419875509	65	S>A		No	ClinGen TOPMed
CA396096739 rs1461872282	65	S>L		No	ClinGen TOPMed
CA396096732 rs1432703762	66	Y>*		No	ClinGen TOPMed
rs1386176024 CA396096734	66	Y>C		No	ClinGen TOPMed
CA280570429 rs372257332	67	P>A		No	ClinGen ESP gnomAD
rs1290795428 CA396096718	69	N>D		No	ClinGen TOPMed
rs1395487506 CA396096707	70	K>R		No	ClinGen TOPMed
CA396096691 rs1310692722	72	C>S		No	ClinGen TOPMed
rs767624769 CA8039646	73	I>M		No	ClinGen ExAC gnomAD
rs771871789 CA280570425	73	I>V		No	ClinGen gnomAD
CA396096681 rs1337110760	74	Y>H		No	ClinGen TOPMed
rs1307470056 CA396096380	78	A>V		No	ClinGen gnomAD
CA396096379 rs1567397901	79	A>T		No	ClinGen Ensembl
rs775634589 CA8039622	80	P>T		No	ClinGen ExAC gnomAD
rs147710236 CA8039621	81	R>C		No	ClinGen ESP ExAC gnomAD
rs147090370 CA8039619	81	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8039620 rs147090370	81	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8039618 rs770712047	82	Q>P		No	ClinGen ExAC gnomAD
CA8039616 rs772892447	83	R>S		No	ClinGen ExAC TOPMed gnomAD
CA280569997 rs1039377702	84	I>V		No	ClinGen TOPMed gnomAD
CA8039614 rs747647257	85	E>A		No	ClinGen ExAC TOPMed gnomAD
CA8039615 rs747647257	85	E>G		No	ClinGen ExAC TOPMed gnomAD
rs778341737 CA8039613	87	T>I		No	ClinGen ExAC gnomAD
rs942639123 CA280569984	89	D>H		No	ClinGen TOPMed gnomAD
CA396096248 rs1264752661	91	H>R		No	ClinGen gnomAD
rs1461566551 CA396096249	91	H>Y		No	ClinGen gnomAD
CA8039611 rs746342583	92	Y>H		No	ClinGen ExAC gnomAD
CA396096230 rs1328387002	93	Y>F		No	ClinGen gnomAD
CA8039610 rs781429380	94	I>V		No	ClinGen ExAC TOPMed gnomAD
rs751767431 CA8039608	96	P>T		No	ClinGen ExAC gnomAD
rs758608097 CA8039606	97	S>*		No	ClinGen ExAC gnomAD
CA396096175 rs1339100547	99	E>G		No	ClinGen gnomAD
rs185406218 CA8039604	101	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA8039605 rs752836648 COSM557937	101	R>W	lung Variant assessed as Somatic; 4.641e-05 impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1220496391 CA396096128	103	D>E		No	ClinGen gnomAD
rs80041129 CA396096133	103	D>H	Variant assessed as Somatic; 4.635e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs80041129 CA280569947	103	D>Y		No	ClinGen gnomAD
CA280569940 rs891025248	104	H>N		No	ClinGen TOPMed gnomAD
rs759414615 CA396096087	108	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA396096083 rs1163057446	109	D>N		No	ClinGen Ensembl
TCGA novel	111	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396096058 rs1213057990	112	F>C		No	ClinGen TOPMed
TCGA novel	114	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8039600 rs760517079	115	S>C		No	ClinGen ExAC gnomAD
TCGA novel	116	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs141182866 CA8039599	117	L>V		No	ClinGen ESP ExAC gnomAD
CA280569930 rs756192672	118	I>M		No	ClinGen Ensembl
TCGA novel	118	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396096024 rs1354221528	118	I>V		No	ClinGen TOPMed gnomAD
rs1245423569 CA396096015	119	D>G		No	ClinGen TOPMed gnomAD
rs771729249 CA8039598	119	D>N		No	ClinGen ExAC gnomAD
COSM970815 rs1383778010 CA396096010	120	R>C	Variant assessed as Somatic; 0.0 impact. liver endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs753854136 CA8039597	120	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1383778010 CA396096012	120	R>S		No	ClinGen TOPMed gnomAD
rs971571891 CA396095984	124	V>L		No	ClinGen gnomAD
rs971571891 CA280569917	124	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1248270988 CA396095976	125	K>R		No	ClinGen gnomAD
rs1402933193 CA396095965	126	S>R		No	ClinGen gnomAD
CA8039594 rs746408920	128	P>L		No	ClinGen ExAC gnomAD
TCGA novel	131	R>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771265566 CA8039592	133	T>I		No	ClinGen ExAC gnomAD
CA396095916 rs1448606176	134	G>V		No	ClinGen gnomAD
CA396095907 rs1392837913	136	F>L		No	ClinGen TOPMed
rs1023173880 CA396095899	137	M>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA396095897 rs1195108664	137	M>T		No	ClinGen gnomAD
CA280569911 rs1023173880	137	M>V		No	ClinGen gnomAD
CA396095883 rs1455283187	139	I>V		No	ClinGen TOPMed
CA8039591 rs747385450	140	K>R		No	ClinGen ExAC TOPMed gnomAD
rs374959984 CA8039590	146	E>K		No	ClinGen ESP ExAC gnomAD
CA8039589 rs758698142	147	L>F		No	ClinGen ExAC gnomAD
rs752918396 CA8039588	148	E>Q		No	ClinGen ExAC gnomAD
CA396095802 rs1271107640	150	L>Q		No	ClinGen gnomAD
rs144229750 CA8039587	153	R>*	Variant assessed as Somatic; 4.632e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA396095786 rs570422652	153	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs570422652 CA8039586	153	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA396095780 rs1303095861	154	A>G		No	ClinGen gnomAD
TCGA novel	154	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396095744 rs1305745300	159	I>T		No	ClinGen gnomAD
rs766330234 CA8039584	160	P>A		No	ClinGen ExAC gnomAD
rs766330234 CA396095740	160	P>S		No	ClinGen ExAC gnomAD
rs1373463148 CA396095563	161	D>G		No	ClinGen gnomAD
CA280567039 rs866503006	162	P>S		No	ClinGen Ensembl
CA396095536 rs1445323762	163	D>G		No	ClinGen gnomAD
TCGA novel	163	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751281620 COSM353915 CA8039555	164	F>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA396095483 CA8039554 rs763790812	168	G>R		No	ClinGen ExAC gnomAD
TCGA novel	171	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396095422 rs1596736701	173	P>S		No	ClinGen Ensembl
CA396095410 rs1490236047	174	I>N		No	ClinGen gnomAD
CA396095403 rs1380235746	175	P>A		No	ClinGen TOPMed
CA8039543 rs749427046	176	D>E		No	ClinGen ExAC gnomAD
TCGA novel	178	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1363587046 CA396095319	180	E>K		No	ClinGen TOPMed
CA8039540 rs372851634	182	S>L		No	ClinGen ESP ExAC TOPMed
CA8039537 rs751371263	185	D>E		No	ClinGen ExAC gnomAD
CA280566924 rs750819621	185	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA8039536 rs758100834 CA8039535	188	V>L		No	ClinGen ExAC gnomAD
rs752268896 COSM1168820 CA8039534	189	R>C	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs767911742 CA280566913	189	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs767911742 CA280566916	189	R>L		No	ClinGen TOPMed gnomAD
rs767911742 CA280566912	189	R>P		No	ClinGen TOPMed gnomAD
CA8039533 rs764841990	195	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA396095175 rs1596736450	200	K>N		No	ClinGen Ensembl
rs1486478449 CA396095164	202	G>D		No	ClinGen gnomAD
CA8039532 rs759111930	203	Q>K		No	ClinGen ExAC gnomAD
CA396095158 rs1218673306	203	Q>R		No	ClinGen TOPMed gnomAD
rs1358117928 CA396095149	204	A>V		No	ClinGen gnomAD
CA8039531 rs139362451 COSM1217115	205	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1339696546 CA396095132	207	C>Y		No	ClinGen gnomAD
rs768149540 CA8039530	210	T>I		No	ClinGen ExAC gnomAD
rs774807149 CA280566874	211	I>F		No	ClinGen ExAC TOPMed gnomAD
rs774807149 CA8039528	211	I>V		No	ClinGen ExAC TOPMed gnomAD
CA8039527 rs768849611	213	A>T		No	ClinGen ExAC gnomAD
CA280566869 rs570799159	214	T>A		No	ClinGen 1000Genomes TOPMed
rs749577712 CA8039526	214	T>I		No	ClinGen ExAC gnomAD
CA280566867 rs570799159	214	T>S		No	ClinGen 1000Genomes TOPMed
TCGA novel	217	A>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776639614 CA280566865	218	K>Q		No	ClinGen Ensembl
TCGA novel	219	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	219	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1324166044 CA396094602	228	M>I		No	ClinGen gnomAD
CA396094591 rs1264946337	230	H>Y		No	ClinGen gnomAD
CA396094579 rs1479810791	231	S>L		No	ClinGen gnomAD
CA396094577 rs1334094714	232	N>D		No	ClinGen gnomAD
CA396094575 rs1306505675	232	N>S		No	ClinGen TOPMed gnomAD
TCGA novel	235	K>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1205352849 CA396094550	235	K>R		No	ClinGen TOPMed gnomAD
CA8039495 rs574176187	239	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA396094486 rs1407394629	242	Y>C		No	ClinGen gnomAD
CA396094447 rs1179246182	245	S>N		No	ClinGen gnomAD
CA8039492 rs766042295	249	E>G		No	ClinGen ExAC TOPMed gnomAD
rs750997677 CA8039493	249	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1349249016 CA396094344	252	K>R		No	ClinGen TOPMed
CA280562213 rs1054466561	253	A>T		No	ClinGen Ensembl
CA280562205 rs1030965052	256	C>S		No	ClinGen TOPMed
CA8039490 rs763461793	258	T>S		No	ClinGen ExAC gnomAD
rs1461608305 CA396094238	259	V>A		No	ClinGen gnomAD
rs150939323 CA8039487	261	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200233550 CA8039488	261	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA396094204 rs1360001489	262	D>Y		No	ClinGen TOPMed
rs776812040 CA8039486	263	V>L		No	ClinGen ExAC gnomAD
rs771065020 CA8039485	265	L>F		No	ClinGen ExAC gnomAD
rs1239944668 CA396094146	266	K>E		No	ClinGen gnomAD
CA396094111 rs1356111240	268	G>E		No	ClinGen TOPMed gnomAD
rs760657338 CA8039484	269	I>V		No	ClinGen ExAC gnomAD
CA8039483 rs773283296	273	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA396094032 rs1384013687	274	M>T		No	ClinGen gnomAD
CA396093992 rs1339157415	276	A>V		No	ClinGen gnomAD
CA396093952 rs1380992118	279	G>D		No	ClinGen gnomAD
rs1384956543 CA396093925	281	R>Q		No	ClinGen gnomAD
CA8039482 rs771907258	282	L>V		No	ClinGen ExAC gnomAD
rs1244154845 CA396093908	283	S>G		No	ClinGen TOPMed
CA396093888 rs1454904239	284	R>K		No	ClinGen gnomAD
rs537560419 CA8039481	286	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA8039480 rs570205519	286	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA396093850 rs1444965901	287	M>V		No	ClinGen TOPMed gnomAD
rs768545647 CA8039479	290	T>A		No	ClinGen ExAC gnomAD
CA396093805 rs1239840286	290	T>N		No	ClinGen TOPMed
rs779851539 CA8039477	293	V>L		No	ClinGen ExAC TOPMed gnomAD
CA396093749 rs1205732736	294	E>G		No	ClinGen TOPMed gnomAD
COSM1195636 rs1175988575 CA396093740	295	P>S	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs768643455 CA8039460	298	T>A		No	ClinGen ExAC gnomAD
CA280550529 rs375157665	299	S>N		No	ClinGen ESP TOPMed gnomAD
TCGA novel	299	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1441603718 CA396095008	300	S>N		No	ClinGen TOPMed gnomAD
TCGA novel CA8039459 rs749086082	302	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
CA8039457 rs769338360	305	H>L		No	ClinGen ExAC TOPMed gnomAD
CA8039458 rs769338360	305	H>R		No	ClinGen ExAC TOPMed gnomAD
CA8039456 rs745494460	306	S>N		No	ClinGen ExAC gnomAD
rs749380910 CA280550501	308	M>V		No	ClinGen Ensembl
rs1567378514 CA396094927	311	N>S		No	ClinGen Ensembl
CA396094910 rs1326454581	313	S>F		No	ClinGen gnomAD
TCGA novel	313	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs946353664 CA280550496	319	V>A		No	ClinGen Ensembl
rs780592185 CA8039455	321	N>H		No	ClinGen ExAC gnomAD
TCGA novel	321	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	321	N>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1309103518 CA396094834	324	Y>*		No	ClinGen TOPMed
CA396094839 rs1172601704	324	Y>H		No	ClinGen gnomAD
TCGA novel	325	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1479411040 CA396094829	325	P>L		No	ClinGen gnomAD
CA396094825 rs1351972807	326	W>R		No	ClinGen TOPMed
CA8039453 rs756769234	329	N>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	329	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770405045 CA8039434	334	K>E		No	ClinGen ExAC gnomAD
CA8039433 rs746535346	335	K>E		No	ClinGen ExAC gnomAD
CA8039432 rs777196698	337	A>T		No	ClinGen ExAC gnomAD
CA396094723 rs1367330070	338	G>R		No	ClinGen TOPMed
CA396094703 rs1311004916	341	E>Q		No	ClinGen gnomAD
rs1450133934 CA396094695	342	Q>K		No	ClinGen gnomAD
CA8039431 rs181648155	347	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1450092535 CA396094427	350	I>V		No	ClinGen TOPMed gnomAD
CA8039427 rs750674844	351	I>M		No	ClinGen ExAC TOPMed gnomAD
rs756465710 CA8039428	351	I>T		No	ClinGen ExAC gnomAD
rs780328925 CA8039429	351	I>V		No	ClinGen ExAC gnomAD
CA396094404 rs202158130	352	G>D		No	ClinGen TOPMed gnomAD
CA280548919 rs202158130	352	G>V		No	ClinGen TOPMed gnomAD
rs987850572 CA280548918	353	I>V		No	ClinGen Ensembl
rs1567377375 CA396094357	356	G>V		No	ClinGen Ensembl
rs757500477 CA8039425	358	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA396094320 rs1484515689	359	L>F		No	ClinGen gnomAD
rs1240879995 CA396094316	360	V>I		No	ClinGen gnomAD
CA396094303 rs1174336771	361	L>V		No	ClinGen Ensembl
CA280548881 rs953510162	363	I>V		No	ClinGen Ensembl
TCGA novel	364	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1466666263 CA396094237	366	I>M		No	ClinGen TOPMed
rs1160093951 CA396094246	366	I>V		No	ClinGen gnomAD
rs890831274 CA280548866	368	V>L		No	ClinGen TOPMed
rs751696352 CA8039424	370	V>L		No	ClinGen ExAC gnomAD
CA280548843 rs77286977	371	K>N		No	ClinGen Ensembl
CA8039423 rs146231741	374	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	376	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	377	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8039421 rs143369549	378	M>I		No	ClinGen ESP ExAC gnomAD
CA8039422 rs763007508	378	M>T		No	ClinGen ExAC gnomAD
rs764980937 CA8039420	379	A>S		No	ClinGen ExAC gnomAD
CA8039419 rs759371227	380	C>F		No	ClinGen ExAC TOPMed gnomAD
rs1229879955 CA396094065	381	K>Q		No	ClinGen gnomAD
CA8039417 rs144722995	383	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs149384006 CA8039415	386	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs572763783 CA280548759	388	G>A		No	ClinGen TOPMed gnomAD
rs572763783 COSM1679063 CA280548765	388	G>E	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA8039413 rs749831838	388	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1596695494 CA396093965	389	F>V		No	ClinGen Ensembl
rs1425929571 CA396093945	390	Q>R		No	ClinGen gnomAD
CA8039411 rs770110770	392	V>L		No	ClinGen ExAC TOPMed gnomAD
CA8039410 rs746260973	395	P>T		No	ClinGen ExAC gnomAD
rs1478461935 CA396093854	397	H>L		No	ClinGen gnomAD
CA8039408 rs757588501	400	L>R		No	ClinGen ExAC gnomAD
CA8039409 rs781349560	400	L>V		No	ClinGen ExAC gnomAD
CA280548632 rs866235492	403	L>P		No	ClinGen TOPMed
CA396093775 rs866235492	403	L>R		No	ClinGen TOPMed
rs941150131 CA396093698	411	D>G		No	ClinGen TOPMed gnomAD
rs941150131 CA280548622	411	D>V		No	ClinGen TOPMed gnomAD
CA8039405 rs375689329	412	L>V		No	ClinGen ESP ExAC gnomAD
CA396093673 rs1342362080	415	L>S		No	ClinGen gnomAD
CA396093675 rs1223397287	415	L>V		No	ClinGen TOPMed
rs752644750 CA8039404	416	S>L		No	ClinGen ExAC TOPMed gnomAD
rs377005431 CA8039402	417	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA396093649 rs201096875	419	L>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA280548549 rs894233858	421	N>S		No	ClinGen TOPMed gnomAD
CA396093612 rs1170239609	423	Q>H		No	ClinGen gnomAD
CA8039399 rs772817589	426	R>G		No	ClinGen ExAC TOPMed gnomAD
rs771633004 CA8039397	426	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM300096 rs772817589 CA8039398	426	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA8039395 rs773680548	427	R>C		No	ClinGen ExAC TOPMed gnomAD
rs372424394 CA8039394	427	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA396093590 rs372424394	427	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA396093583 rs1192594338	428	S>C		No	ClinGen gnomAD
rs1596695298 CA396093587	428	S>P		No	ClinGen Ensembl
rs1596695284 CA396093582	429	S>P		No	ClinGen Ensembl
rs1479484382 CA396093571	430	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1596695263 CA396093576	430	T>P		No	ClinGen Ensembl
COSM557940 CA8039392 rs555638989	431	A>T	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA396093568 rs1319831376	431	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1596695252 CA396093564	432	S>P		No	ClinGen Ensembl
CA8039391 rs771401576	433	R>C		No	ClinGen ExAC TOPMed gnomAD
CA396093556 rs1221720263	433	R>H		No	ClinGen gnomAD
TCGA novel	433	R>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396093552 rs1441772962	434	C>G		No	ClinGen TOPMed
rs144054886 CA8039388	437	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs144054886 CA8039387	437	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA280548480 rs200834409	437	D>V		No	ClinGen 1000Genomes
rs778818619 CA8039386	439	H>N		No	ClinGen ExAC gnomAD
CA8039384 rs754963753	442	S>L		No	ClinGen ExAC TOPMed gnomAD
CA396093490 rs1403003994	443	Q>E		No	ClinGen gnomAD
rs1596695170 CA396093477	445	S>T		No	ClinGen Ensembl
CA8039382 rs201675106	446	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8039383 rs753695094	446	S>R		No	ClinGen ExAC TOPMed gnomAD
rs551394619 CA8039381	447	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA8039380 rs750129372	450	S>N		No	ClinGen ExAC gnomAD
CA8039379 rs767167272	452	T>A		No	ClinGen ExAC
CA8039378 rs761308895	452	T>I		No	ClinGen ExAC TOPMed gnomAD
CA8039376 rs763466196	453	N>I		No	ClinGen ExAC gnomAD
rs1437549289 CA396093414	454	L>R		No	ClinGen TOPMed
CA8039375 rs199738684	455	S>R		No	ClinGen 1000Genomes ExAC
VAR_051232 RCV000947700 rs2231983 CA8039374	456	S>T		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8039373 rs771489428	457	M>V		No	ClinGen ExAC gnomAD
rs1253603715 CA396093387	458	E>D		No	ClinGen TOPMed
rs747366006 CA8039372	458	E>K		No	ClinGen ExAC gnomAD
CA396093383 rs1483166529	459	L>R		No	ClinGen TOPMed
CA396093365 rs1256660628	462	R>*		No	ClinGen gnomAD
CA396093366 rs1256660628	462	R>G		No	ClinGen gnomAD
rs755653351 CA8039370	462	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8039369 rs748267147	466	A>V		No	ClinGen ExAC gnomAD
rs147126537 CA8039368	467	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1379609145 CA396093316	469	Q>R		No	ClinGen gnomAD
CA396093312 rs1335205220	470	P>S		No	ClinGen gnomAD
rs752025929 CA280548331	471	M>R		No	ClinGen Ensembl
CA8039364 rs200709167	472	K>T		No	ClinGen 1000Genomes ExAC gnomAD
rs750227029 CA8039363	473	T>P		No	ClinGen ExAC gnomAD
rs767263250 CA8039362	474	F>V		No	ClinGen ExAC gnomAD
rs756961097 CA8039361	475	N>H		No	ClinGen ExAC gnomAD
CA8039360 rs557502757	476	S>G		No	ClinGen ExAC TOPMed gnomAD
CA396093261 rs1309603093	477	T>N		No	ClinGen TOPMed
CA396093253 rs1428494333	478	F>L		No	ClinGen gnomAD
rs201572552 CA280548273	480	K>R		No	ClinGen 1000Genomes
CA8039358 rs762365599	481	S>G		No	ClinGen ExAC gnomAD
rs777336940 CA8039357	481	S>N		No	ClinGen ExAC gnomAD
rs1182828019 CA396093227	482	S>N		No	ClinGen gnomAD
CA396093213 rs1258199113	484	T>A		No	ClinGen gnomAD
CA396093204 rs1410630524	485	F>S		No	ClinGen TOPMed
TCGA novel	489	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1567376939 CA396093174	489	H>R		No	ClinGen Ensembl
CA280548255 rs867213775	491	C>F		No	ClinGen TOPMed gnomAD
rs1285521835 CA396093153	492	P>S		No	ClinGen gnomAD
CA280548233 rs375544263	493	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8039353 rs375544263	493	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8039352 rs748441798	495	A>T		No	ClinGen ExAC gnomAD
TCGA novel	498	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766715523 COSM124725 CA8039350	499	R>Q	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs985248120 CA280548218	501	M>T		No	ClinGen TOPMed
rs749381039 CA396093085	502	E>D		No	ClinGen ExAC TOPMed gnomAD
CA8039348 rs780038912	505	P>A		No	ClinGen ExAC gnomAD
CA396093049 rs1221217562	507	E>D		No	ClinGen TOPMed
rs756079194 CA396093031	510	V>F		No	ClinGen ExAC gnomAD
rs756079194 CA8039347	510	V>I		No	ClinGen ExAC gnomAD
CA396093026 rs1298322629	511	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs756974533 CA8039343	512	G>E		No	ClinGen ExAC gnomAD
rs781018489 CA8039344	512	G>R		No	ClinGen ExAC gnomAD
COSM126827 CA8039341 rs777279280	513	R>*	upper_aerodigestive_tract Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs200237465 COSM970810 CA8039340	513	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA8039339 rs752284765	514	E>D		No	ClinGen ExAC gnomAD
rs764789693 CA8039338	518	Q>*		No	ClinGen ExAC gnomAD
rs1241500296 CA396092980	519	A>T		No	ClinGen TOPMed
CA8039337 rs761313386	520	S>F		No	ClinGen ExAC gnomAD
rs750928755 CA8039336	522	S>P		No	ClinGen ExAC gnomAD
CA8039335 rs767988599	522	S>Y		No	ClinGen ExAC gnomAD
CA8039334 rs762067120	523	I>T		No	ClinGen ExAC gnomAD
CA8039332 rs768761904	525	F>L		No	ClinGen ExAC gnomAD

No associated diseases with Q8NC67

4 regional properties for Q8NC67

Type	Name	Position	InterPro Accession
domain	CUB domain	45 - 159	IPR000859-1
domain	CUB domain	177 - 292	IPR000859-2
repeat	Low-density lipoprotein (LDL) receptor class A repeat	296 - 333	IPR002172
conserved_site	Low-density lipoprotein (LDL) receptor class A, conserved site	309 - 331	IPR023415

Functions

		Description
EC Number
Subcellular Localization	Membrane ; Single-pass type I membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
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.
postsynaptic density	An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components.

1 GO annotations of molecular function

Name	Definition
ionotropic glutamate receptor binding	Binding to an ionotropic glutamate receptor. Ionotropic glutamate receptors bind glutamate and exert an effect through the regulation of ion channels.

1 GO annotations of biological process

Name	Definition
regulation of kainate selective glutamate receptor activity	Any process that modulates the frequency, rate or extent of kainate selective glutamate receptor activity.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9UKZ9	PCOLCE2	Procollagen C-endopeptidase enhancer 2	Homo sapiens (Human)	PR
Q15113	PCOLCE	Procollagen C-endopeptidase enhancer 1	Homo sapiens (Human)	PR
Q8BNJ6	Neto2	Neuropilin and tolloid-like protein 2	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MALERLCSVL	KVLLITVLVV	EGIAVAQKTQ	DGQNIGIKHI	PATQCGIWVR	TSNGGHFASP
70	80	90	100	110	120
NYPDSYPPNK	ECIYILEAAP	RQRIELTFDE	HYYIEPSFEC	RFDHLEVRDG	PFGFSPLIDR
130	140	150	160	170	180
YCGVKSPPLI	RSTGRFMWIK	FSSDEELEGL	GFRAKYSFIP	DPDFTYLGGI	LNPIPDCQFE
190	200	210	220	230	240
LSGADGIVRS	SQVEQEEKTK	PGQAVDCIWT	IKATPKAKIY	LRFLDYQMEH	SNECKRNFVA
250	260	270	280	290	300
VYDGSSSIEN	LKAKFCSTVA	NDVMLKTGIG	VIRMWADEGS	RLSRFRMLFT	SFVEPPCTSS
310	320	330	340	350	360
TFFCHSNMCI	NNSLVCNGVQ	NCAYPWDENH	CKEKKKAGVF	EQITKTHGTI	IGITSGIVLV
370	380	390	400	410	420
LLIISILVQV	KQPRKKVMAC	KTAFNKTGFQ	EVFDPPHYEL	FSLRDKEISA	DLADLSEELD
430	440	450	460	470	480
NYQKMRRSST	ASRCIHDHHC	GSQASSVKQS	RTNLSSMELP	FRNDFAQPQP	MKTFNSTFKK
490	500	510	520
SSYTFKQGHE	CPEQALEDRV	MEEIPCEIYV	RGREDSAQAS	ISIDF