AiPD: Autoinhibited Protein Database

Q8NBN3

Gene name	TMEM87A
Protein name	Transmembrane protein 87A
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:25963
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

121-235 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

121-235 (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

4 structures for Q8NBN3

Entry ID	Method	Resolution	Chain	Position	Source
8CTJ	EM	474 A	A	1-555	PDB
8HSI	EM	310 A	A	1-555	PDB
8HTT	EM	360 A	B	1-555	PDB
AF-Q8NBN3-F1	Predicted				AlphaFoldDB

401 variants for Q8NBN3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA391970188 rs373908111	2	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA7509677 rs373908111	2	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs751937373 CA7509676	3	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1412621786 CA391970164	3	A>V		No	ClinGen TOPMed
rs1260848467 CA391970141	5	A>T		No	ClinGen gnomAD
CA7509673 rs368638014	7	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1595757878 CA391970034	9	V>G		No	ClinGen Ensembl
rs572735519 CA7509672	9	V>M		No	ClinGen 1000Genomes ExAC TOPMed
rs1303329651 CA391970004	10	L>F		No	ClinGen gnomAD
rs201431407 CA7509671	11	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs897823254 CA269817213	12	V>A		No	ClinGen TOPMed
CA391969935 rs1408670544	13	I>T		No	ClinGen TOPMed
CA7509670 rs776482461	14	L>F		No	ClinGen ExAC TOPMed
rs939404076 CA269817208	15	L>P		No	ClinGen TOPMed
rs1289270287 CA391969834	16	L>P		No	ClinGen gnomAD
CA391969822 rs1436978304	17	L>M		No	ClinGen gnomAD
CA7509665 rs771153563	18	G>E		No	ClinGen ExAC gnomAD
CA391969763 rs1469368182	19	A>V		No	ClinGen gnomAD
rs1430017121 CA391969749	20	H>D		No	ClinGen TOPMed gnomAD
CA391969753 rs1430017121	20	H>N		No	ClinGen TOPMed gnomAD
CA391969716 rs1595757765	20	H>P		No	ClinGen Ensembl
rs1430017121 CA391969742	20	H>Y		No	ClinGen TOPMed gnomAD
rs535472070 CA7509664	21	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs778161696 CA7509663	23	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1025591504 CA269817187	23	P>S		No	ClinGen TOPMed gnomAD
rs375802819 CA269817183	25	S>P		No	ClinGen ESP TOPMed
CA391969449 rs1368312863	28	S>R		No	ClinGen TOPMed
CA391969447 rs1408730560	29	A>T		No	ClinGen TOPMed
rs868439842 CA269817175	29	A>V		No	ClinGen TOPMed
rs1595757708 CA391969414	30	G>R		No	ClinGen Ensembl
CA7509658 rs202174333	31	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA391969371 rs1257203403	32	A>P		No	ClinGen gnomAD
rs961456056 CA269817168	32	A>V		No	ClinGen Ensembl
rs766697929 CA7509657	33	T>I		No	ClinGen ExAC gnomAD
CA7509656 rs374705120	34	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA391969272 rs1459389563	36	A>V		No	ClinGen TOPMed gnomAD
CA7509654 rs144133599	37	A>T		No	ClinGen ESP ExAC gnomAD
rs140400607 CA391969175	38	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1234415664 CA391969160	39	R>G		No	ClinGen TOPMed
rs1282790913 CA391969149	39	R>L		No	ClinGen TOPMed
CA391969144 rs1304714980	40	S>P		No	ClinGen gnomAD
TCGA novel	42	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7509650 rs760569422	44	I>T		No	ClinGen ExAC gnomAD
rs771713450 CA7509648	45	P>L		No	ClinGen ExAC TOPMed gnomAD
rs775527588 CA7509649	45	P>S		No	ClinGen ExAC gnomAD
rs773504077 CA7509646	46	I>L		No	ClinGen ExAC gnomAD
CA7509645 rs770209829	46	I>M		No	ClinGen ExAC TOPMed gnomAD
rs748226584 CA391968963	47	P>L		No	ClinGen ExAC gnomAD
rs748226584 CA7509644	47	P>R		No	ClinGen ExAC gnomAD
rs1566945854 CA391968934	48	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1566945854 CA391968937	48	S>W		No	ClinGen Ensembl
CA7509594 rs752127790	49	G>W		No	ClinGen ExAC TOPMed gnomAD
rs527887382 CA7509592	52	Y>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1277690756 CA391968428	53	F>C		No	ClinGen TOPMed
rs766436272 CA7509590	54	S>T		No	ClinGen ExAC gnomAD
rs1444141250 CA391968284	57	K>M		No	ClinGen gnomAD
TCGA novel	59	L>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391968199 rs1372436184	61	R>G		No	ClinGen TOPMed
CA7509588 rs750301944	62	N>D		No	ClinGen ExAC gnomAD
CA7509587 COSM3719901 COSM3719900 rs764197804	65	I>V	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA269816569 rs572740259	66	F>C		No	ClinGen Ensembl
rs760995369 CA7509586	68	K>N		No	ClinGen ExAC TOPMed gnomAD
CA7509575 rs781017206	70	D>E		No	ClinGen ExAC gnomAD
rs1277379083 CA391967229	73	P>T		No	ClinGen gnomAD
CA391967203 rs1220802423	74	C>W		No	ClinGen gnomAD
CA7509572 rs780138347	78	L>F		No	ClinGen ExAC TOPMed gnomAD
CA7509571 rs758407668	79	N>S		No	ClinGen ExAC gnomAD
rs374342321 COSM3723904 COSM3723903 CA7509570	80	I>V	upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
CA391967052 TCGA novel rs1409891851	82	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
rs765038441 CA7509569	83	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs544107092 CA7509566	87	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1406031622 CA391966921	89	C>F		No	ClinGen gnomAD
rs766775423 CA7509563	91	N>D		No	ClinGen ExAC gnomAD
rs763557675 CA7509562	91	N>S		No	ClinGen ExAC gnomAD
CA7509561 rs369283413	93	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA391966845 rs369283413	93	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs376455422 CA7509560	95	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA391966783 rs1469375669	96	F>L		No	ClinGen TOPMed
rs1489049374 CA391965936	98	A>V		No	ClinGen TOPMed
rs760360537 CA7509537	99	E>K		No	ClinGen ExAC TOPMed gnomAD
CA7509535 rs771548426	100	E>D		No	ClinGen ExAC TOPMed gnomAD
rs775024306 CA7509536	100	E>V		No	ClinGen ExAC gnomAD
rs745373740 CA7509534	101	V>I		No	ClinGen ExAC gnomAD
rs376355471 CA7509533	102	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA391965887 rs1276332156	103	L>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1391078615 CA391965791	107	K>I		No	ClinGen gnomAD
rs1468968041 CA391965774	108	L>F		No	ClinGen TOPMed
rs1468968041 CA391965783	108	L>V		No	ClinGen TOPMed
rs1301230529 CA391965746	109	K>R		No	ClinGen gnomAD
CA7509532 rs770911522	110	E>G		No	ClinGen ExAC gnomAD
CA391965692 rs1223805834	111	K>N		No	ClinGen gnomAD
rs1360258026 CA391965688	112	R>G		No	ClinGen gnomAD
CA7509529 rs755936960	114	L>F		No	ClinGen ExAC TOPMed gnomAD
CA7509528 rs751756667	116	G>R		No	ClinGen ExAC gnomAD
CA7509526 rs112664000	117	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7509525 rs112664000	117	K>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7509523 rs762462224	118	Y>N		No	ClinGen ExAC
rs754424657 CA7509522	119	Q>R		No	ClinGen ExAC
rs761131256 CA7509520	120	T>A		No	ClinGen ExAC gnomAD
CA7509519 rs775138415	120	T>K		No	ClinGen ExAC
CA391965477 rs761131256	120	T>S		No	ClinGen ExAC gnomAD
TCGA novel	121	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391965450 rs1566941469	122	S>T		No	ClinGen Ensembl
CA391965421 rs1202294356	124	L>M		No	ClinGen gnomAD
CA391965325 rs1401511267	130	E>G		No	ClinGen Ensembl
rs1310766141 CA391965269	134	T>S		No	ClinGen gnomAD
TCGA novel	135	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765826966 CA7509498	136	T>I		No	ClinGen ExAC gnomAD
CA391964329 rs765826966	136	T>S		No	ClinGen ExAC gnomAD
CA7509496 COSM1147512 COSM700593 rs773068113	138	S>F	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA7509497 rs762465268	138	S>P		No	ClinGen ExAC gnomAD
CA391964289 rs1252470629	140	D>Y		No	ClinGen gnomAD
CA391964267 rs1340641411	141	F>C		No	ClinGen Ensembl
rs952140258 CA269812024	142	M>T		No	ClinGen TOPMed
rs566181385 CA7509494	144	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs566181385 CA7509495	144	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1210194540 CA391964204	146	P>S		No	ClinGen gnomAD
CA269812009 rs993647986	152	Q>*		No	ClinGen TOPMed
rs1566940115 CA391964156	152	Q>L		No	ClinGen Ensembl
rs1357389492 CA391964147	153	E>D		No	ClinGen gnomAD
CA391964149 rs1436217143	153	E>G		No	ClinGen TOPMed
rs762448864 CA7509473	155	K>T		No	ClinGen ExAC TOPMed gnomAD
CA7509471 rs753659527	162	T>A		No	ClinGen ExAC TOPMed gnomAD
CA7509470 rs753659527	162	T>S		No	ClinGen ExAC TOPMed gnomAD
rs547548383 CA269811877	163	F>V		No	ClinGen TOPMed
CA7509469 rs776649525	164	I>F		No	ClinGen ExAC gnomAD
TCGA novel	164	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768273457 CA7509468	165	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1490477433 CA391963953	166	D>G		No	ClinGen TOPMed
CA269811865 rs113216407	167	K>R		No	ClinGen Ensembl
rs1478898223	168	T>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA7509446 rs145141787	170	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs367797268 CA7509445	171	H>R		No	ClinGen ESP ExAC gnomAD
rs1290142960 CA391987844	172	E>K		No	ClinGen gnomAD
CA269833576 rs373910511	173	P>L		No	ClinGen ESP TOPMed
CA391987809 rs1251581412	174	L>W		No	ClinGen TOPMed
rs769266253 CA7509442	176	T>A		No	ClinGen ExAC TOPMed gnomAD
CA391987687 rs1375410081	181	P>L		No	ClinGen gnomAD
rs747354481 CA7509441	184	F>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	185	I>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1000710894 CA269833546	188	I>F		No	ClinGen TOPMed
CA7509440 rs780440345	188	I>T		No	ClinGen ExAC TOPMed gnomAD
CA7509439 rs758797651	189	G>V		No	ClinGen ExAC gnomAD
CA7509437 rs185442178	190	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7509436 rs756714941	192	S>F		No	ClinGen ExAC gnomAD
rs753442533 CA7509435	193	S>L		No	ClinGen ExAC gnomAD
rs1488321975 CA391987540	194	K>E		No	ClinGen gnomAD
TCGA novel	194	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1488321975 CA391987539	194	K>Q		No	ClinGen gnomAD
CA7509434 rs763913620	195	E>Q		No	ClinGen ExAC gnomAD
rs752711950 CA7509432	197	S>L		No	ClinGen ExAC TOPMed gnomAD
rs369933990 CA7509431	198	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs759419435 CA7509430	201	S>T		No	ClinGen ExAC
rs773240858 CA7509429	202	L>Q		No	ClinGen ExAC gnomAD
rs1299017700 CA391987376	203	S>N		No	ClinGen gnomAD
rs372005757 CA7509428	204	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA391987338 rs1390186246	205	L>V		No	ClinGen TOPMed
rs552153583 CA7509427	206	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs539079536 CA391987299	207	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs539079536 CA7509425	207	T>N		No	ClinGen 1000Genomes ExAC gnomAD
CA269832092 rs1042966289	209	T>I		No	ClinGen TOPMed gnomAD
CA391985871 rs1349632476	212	V>L		No	ClinGen TOPMed
CA391985869 rs1349632476	212	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA391985839 rs1382860862	215	P>A		No	ClinGen gnomAD
rs1376656652 CA391985835	215	P>R		No	ClinGen TOPMed
rs765357180 CA7509405	216	Y>C		No	ClinGen ExAC
rs1364121405 CA391985798	220	T>A		No	ClinGen gnomAD
rs762139435 CA7509404	221	L>F		No	ClinGen ExAC gnomAD
rs776753269 CA7509402	226	L>S		No	ClinGen ExAC TOPMed gnomAD
CA7509401 rs764114659	227	M>K		No	ClinGen ExAC
CA391985589 rs1472752846	231	M>T		No	ClinGen TOPMed
TCGA novel	231	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs112218370 CA269831175	232	V>A		No	ClinGen Ensembl
rs1482669891 CA391985571	232	V>M		No	ClinGen gnomAD
rs754037472 CA391985558 CA7509383	233	M>I		No	ClinGen ExAC TOPMed gnomAD
rs758153434 CA7509384	233	M>L		No	ClinGen ExAC gnomAD
CA7509381 rs760727071	235	I>F		No	ClinGen ExAC gnomAD
CA7509382 rs760727071	235	I>V		No	ClinGen ExAC gnomAD
rs775592432 CA7509380	236	V>I		No	ClinGen ExAC gnomAD
TCGA novel	237	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1295684096 CA391985508	237	Y>H		No	ClinGen gnomAD
CA391985429 rs1566930106	240	F>S		No	ClinGen Ensembl
rs772994910 CA7509374	246	A>G		No	ClinGen ExAC gnomAD
rs749619450 CA7509375	246	A>S		No	ClinGen ExAC TOPMed gnomAD
rs749619450 CA269831159	246	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1595723774 CA391985231	248	S>A		No	ClinGen Ensembl
rs376919652 CA7509373	249	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1156287544 CA391985065	253	R>G		No	ClinGen gnomAD
CA391984994 rs1364304623	254	D>V		No	ClinGen gnomAD
CA7509370 rs768085183	257	R>G		No	ClinGen ExAC gnomAD
CA391984923 rs1294961035	257	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs369339663 CA7509369	259	Q>H		No	ClinGen ESP ExAC TOPMed
CA391984862 rs1265557096 COSM1629551	259	Q>R	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1227481232 CA391984808	261	W>C		No	ClinGen TOPMed
CA391984800 rs1209421561	262	I>V		No	ClinGen gnomAD
CA391984776 rs1469055082	263	G>D		No	ClinGen gnomAD
TCGA novel	263	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1268400643 CA391984699	265	V>A		No	ClinGen TOPMed
rs1329153979 CA391984604	269	G>E		No	ClinGen gnomAD
rs1280583508 CA391984567	270	M>V		No	ClinGen TOPMed gnomAD
CA391984512 rs1566930002	271	L>H		No	ClinGen Ensembl
CA7509367 rs758204779	273	K>E		No	ClinGen ExAC gnomAD
rs1300203697 CA391984445	274	A>T		No	ClinGen TOPMed gnomAD
CA391984371 rs1595723652	276	F>L		No	ClinGen Ensembl
rs149080105 CA269831123	278	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs377564643 CA7509365	278	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA7509364 rs149080105	278	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA391984311 rs1184151007	279	E>Q		No	ClinGen TOPMed gnomAD
TCGA novel	279	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391984160 rs759547423	284	R>L		No	ClinGen ExAC TOPMed gnomAD
CA7509361 rs759547423	284	R>Q	Variant assessed as Somatic; 0.0001388 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs752038087 CA7509360	285	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA7509359 rs766862412	288	E>D		No	ClinGen ExAC gnomAD
TCGA novel	290	V>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7509358 rs763363587	290	V>F		No	ClinGen ExAC gnomAD
CA7509335 rs768246693	291	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA391983554 rs1212058866	292	G>S		No	ClinGen gnomAD
CA7509334 rs148310303	293	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	296	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771640377 CA7509332	296	L>V		No	ClinGen ExAC gnomAD
CA391983465 rs1471731426	297	A>V		No	ClinGen TOPMed
CA7509331 rs774284092	300	L>F		No	ClinGen ExAC gnomAD
rs774284092 CA7509330	300	L>V		No	ClinGen ExAC gnomAD
CA7509329 rs770645635	303	V>G		No	ClinGen ExAC gnomAD
CA7509328 rs749148379 COSM1372913	305	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs781463219 CA391983326	305	R>H		No	ClinGen ExAC TOPMed gnomAD
rs781463219 CA7509327	305	R>L		No	ClinGen ExAC TOPMed gnomAD
rs747081230 CA7509325	306	S>L		No	ClinGen ExAC gnomAD
CA7509326 rs755205703	306	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1307148450 CA391983302	307	L>V		No	ClinGen gnomAD
rs758575589 CA7509323	309	R>P		No	ClinGen ExAC gnomAD
rs750906178 CA7509322	310	T>N		No	ClinGen ExAC gnomAD
CA391983237 rs1595722545	311	L>P		No	ClinGen Ensembl
CA391983249 rs1471817773	311	L>V		No	ClinGen TOPMed gnomAD
rs1163005339 CA391983225	312	V>A		No	ClinGen gnomAD
rs1163005339 CA391983220	312	V>G		No	ClinGen gnomAD
rs202241031 CA7509321	313	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA7509320 rs757696835	314	I>K		No	ClinGen ExAC TOPMed gnomAD
CA391983197 rs757696835	314	I>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	316	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7509318 rs145034313	322	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs779536111 CA391982526	323	K>N		No	ClinGen ExAC gnomAD
rs760201689 CA7509317	323	K>R		No	ClinGen ExAC TOPMed gnomAD
rs764328775 CA7509301	324	P>L		No	ClinGen ExAC gnomAD
rs754394938 CA7509302	324	P>S		No	ClinGen ExAC gnomAD
CA7509303 rs754394938	324	P>T		No	ClinGen ExAC gnomAD
CA391982490 rs1263053146	325	R>C		No	ClinGen TOPMed gnomAD
CA391982489 rs1230205396	325	R>H		No	ClinGen gnomAD
rs759043009 CA7509297	331	H>R		No	ClinGen ExAC gnomAD
rs1316713831 CA391982322	333	V>A		No	ClinGen TOPMed gnomAD
CA7509295 rs766281638	335	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1306128115 CA391982194	336	A>V		No	ClinGen TOPMed gnomAD
rs773230888 CA7509293	339	L>F		No	ClinGen ExAC gnomAD
CA269829297 rs773230888	339	L>I		No	ClinGen ExAC gnomAD
rs1309006498 CA391982127	339	L>R		No	ClinGen TOPMed
CA269829296 rs780501871	340	Y>C		No	ClinGen TOPMed
rs761678354 CA7509291	342	L>S		No	ClinGen ExAC gnomAD
CA269829291 rs965004982	344	S>A		No	ClinGen Ensembl
CA269829292 rs965004982	344	S>P		No	ClinGen Ensembl
TCGA novel	344	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1276707697 CA391981893	346	M>T		No	ClinGen TOPMed
CA391981904 rs1326744010	346	M>V		No	ClinGen gnomAD
rs1441955732 CA391981843	349	V>I		No	ClinGen TOPMed
CA269829288 rs773792441	353	T>I		No	ClinGen Ensembl
rs778139874 CA7509265	356	Q>*		No	ClinGen ExAC gnomAD
CA391980936 rs778139874	356	Q>K		No	ClinGen ExAC gnomAD
CA391980929 rs1485942578	356	Q>R		No	ClinGen gnomAD
rs770373011 CA7509264	357	T>A		No	ClinGen ExAC gnomAD
CA391980897 rs1221842229	358	D>E		No	ClinGen gnomAD
rs748438767 CA7509263	359	L>I		No	ClinGen ExAC gnomAD
CA391980885 rs1250907115	359	L>R		No	ClinGen gnomAD
rs781486220 CA7509262	360	A>S		No	ClinGen ExAC gnomAD
CA269828418 rs1022489643	361	S>F		No	ClinGen TOPMed
rs1240950459 CA391980851	362	L>S		No	ClinGen Ensembl
rs1452363033 CA391980797	366	P>L		No	ClinGen TOPMed
CA269828410 rs1012023042	367	L>S		No	ClinGen Ensembl
CA391980767 rs1291478013	369	F>I		No	ClinGen gnomAD
CA391980752 rs1233262059	370	L>Q		No	ClinGen gnomAD
CA391980735 rs1389960306	371	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1295567892 CA391980746	371	D>N		No	ClinGen gnomAD
rs1298349835 CA391980727	372	T>A		No	ClinGen gnomAD
rs1463101375 CA391980722	372	T>S		No	ClinGen gnomAD
CA391980716 rs1328289624	373	A>P		No	ClinGen TOPMed gnomAD
rs1475528276 CA391980695	374	L>F		No	ClinGen gnomAD
rs1163555310 CA391980700	374	L>S		No	ClinGen gnomAD
rs778449420 CA7509236	378	I>T		No	ClinGen ExAC gnomAD
rs745532866 CA7509237	378	I>V		No	ClinGen ExAC gnomAD
rs1381635760 CA391980230	379	F>L		No	ClinGen gnomAD
rs551059872 CA269827469	380	I>M		No	ClinGen 1000Genomes ExAC TOPMed
TCGA novel	380	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7509234 COSM129787 rs753773055	381	S>R	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA391980014 rs1393523363	388	L>P		No	ClinGen gnomAD
CA269827453 rs1026075938	392	R>W		No	ClinGen Ensembl
CA391979907 rs755969571	393	R>S		No	ClinGen ExAC TOPMed gnomAD
rs994144808 CA269827446	395	I>V		No	ClinGen gnomAD
rs1438932410 CA391979828	397	K>T		No	ClinGen TOPMed
CA7509230 rs373183488	399	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1447002023 CA391979767	400	L>W		No	ClinGen gnomAD
rs1477897384 CA391979731	402	R>Q		No	ClinGen TOPMed
CA269827438 rs1007043015	402	R>W		No	ClinGen Ensembl
CA391979719 rs1219265676	403	H>Y		No	ClinGen gnomAD
rs773337058 CA7509228	407	T>A		No	ClinGen ExAC
rs990723797 CA391979575	407	T>M		No	ClinGen TOPMed gnomAD
rs990723797 CA269827430	407	T>R		No	ClinGen TOPMed gnomAD
CA7509226 rs761892508	409	I>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA391979499 rs1193239337	411	A>S		No	ClinGen gnomAD
rs777106919 CA7509225	412	V>M		No	ClinGen ExAC gnomAD
rs1473950577 CA391978368	414	A>V		No	ClinGen gnomAD
rs1180693640 CA391978310	416	I>T		No	ClinGen gnomAD
rs1230850985 CA391978324	416	I>V		No	ClinGen gnomAD
rs1438027424 CA391978196	419	I>M		No	ClinGen gnomAD
rs964917607 CA269826968	423	T>A		No	ClinGen TOPMed
TCGA novel	424	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7509197 rs748032270	424	M>V		No	ClinGen ExAC TOPMed gnomAD
rs545441715 CA7509196	425	K>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA7509195 rs754787084	428	I>M		No	ClinGen ExAC gnomAD
CA391977755 rs1229847627	430	T>A		No	ClinGen gnomAD
rs779161844 CA7509193	432	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA7509192 rs757516070	433	S>L		No	ClinGen ExAC gnomAD
rs746794420 CA7509176	434	D>G		No	ClinGen ExAC TOPMed gnomAD
CA391977343 rs1166031825	435	W>R		No	ClinGen gnomAD
rs137984068 CA7509174	436	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA7509173 rs749458668	437	E>G		No	ClinGen ExAC gnomAD
CA7509172 rs778029392	440	V>G		No	ClinGen ExAC gnomAD
rs1381806915 CA391977243	440	V>I		No	ClinGen gnomAD
CA391977219 rs1395217609	442	D>N		No	ClinGen gnomAD
rs1595713892 CA391977200	443	A>G		No	ClinGen Ensembl
CA391977182 rs1484853647	444	I>M		No	ClinGen gnomAD
CA7509170 rs377475368	444	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA7509169 rs373502445	446	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA7509168 rs752140251	448	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1595713862 CA391977082	449	F>V		No	ClinGen Ensembl
CA7509165 rs763424097	451	M>K		No	ClinGen ExAC gnomAD
CA391977036 rs1232429424	452	I>F		No	ClinGen gnomAD
rs1347414471 CA391976990	455	V>A		No	ClinGen gnomAD
rs963864445 CA269826407	456	I>N		No	ClinGen TOPMed
rs1259693597 CA391976987	456	I>V		No	ClinGen TOPMed
rs1302153399 CA391976976	457	M>T		No	ClinGen gnomAD
TCGA novel	457	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	459	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391976932 rs1220953704	461	R>*		No	ClinGen gnomAD
CA391976928 rs1218080191	461	R>Q		No	ClinGen TOPMed
rs772984430 CA7509164	466	N>S		No	ClinGen ExAC TOPMed gnomAD
rs113004234 CA269826388	468	R>G		No	ClinGen Ensembl
rs758828616 CA7509148	469	F>L		No	ClinGen ExAC TOPMed gnomAD
CA7509147 rs750857166	470	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1445572936 CA391974450	473	P>S		No	ClinGen gnomAD
rs761321027 CA7509145	474	L>V		No	ClinGen ExAC TOPMed
CA7509144 rs372558623	475	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1566922043 CA391974352	477	E>A		No	ClinGen Ensembl
CA7509143 rs760294431	478	E>K		No	ClinGen ExAC TOPMed gnomAD
rs760294431 CA7509142	478	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1170757755 CA391974283	480	E>K		No	ClinGen gnomAD
CA7509141 rs775404211	481	D>E		No	ClinGen ExAC TOPMed
rs772040018 CA7509140	482	E>A		No	ClinGen ExAC gnomAD
CA7509138 rs774085717	484	K>M		No	ClinGen ExAC TOPMed gnomAD
rs1475385622 CA391974154	485	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA391974096 rs1257167626	487	M>I		No	ClinGen gnomAD
CA7509136 rs748252715	490	E>A		No	ClinGen ExAC TOPMed gnomAD
rs781489635 CA7509135	491	S>G		No	ClinGen ExAC gnomAD
CA7509134 rs768604471	491	S>T		No	ClinGen ExAC TOPMed gnomAD
CA391973807 rs1267673914	495	M>V		No	ClinGen gnomAD
rs936807468 CA269822978	500	T>I		No	ClinGen TOPMed gnomAD
rs936807468 CA391973631	500	T>S		No	ClinGen TOPMed gnomAD
rs1241727865 CA391973562	503	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA391973510 rs1368202535	505	N>D		No	ClinGen gnomAD
rs375405837 CA7509119	505	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs566115355 CA7509118	511	N>S		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	511	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776712157 CA7509117	513	A>T		No	ClinGen ExAC gnomAD
CA391972900 rs1443144023	516	D>Y		No	ClinGen TOPMed
rs773108173 CA391972818	518	L>F		No	ClinGen ExAC TOPMed gnomAD
CA391972822 rs1170917100	518	L>S		No	ClinGen TOPMed
CA391972801 rs1223295928	519	K>R		No	ClinGen TOPMed gnomAD
CA391972773 rs1264424804	520	W>S		No	ClinGen gnomAD
rs1327528460 CA391972751	521	V>I		No	ClinGen TOPMed
CA269822508 rs978190114	522	E>G		No	ClinGen Ensembl
TCGA novel	523	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391972647 rs1484490352	525	V>A		No	ClinGen gnomAD
rs760936541 CA7509097	526	P>L		No	ClinGen ExAC gnomAD
CA7509096 rs775857437	527	S>P		No	ClinGen ExAC gnomAD
rs576075058 CA7509095	529	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7509094 rs201455450	531	D>V		No	ClinGen 1000Genomes ExAC gnomAD
CA7509092 rs771521743	532	V>E		No	ClinGen ExAC gnomAD
rs774691623 CA7509093	532	V>I		No	ClinGen ExAC gnomAD
rs774691623 CA269822479	532	V>L		No	ClinGen ExAC gnomAD
CA391972468 rs1173498938	533	A>V		No	ClinGen gnomAD
rs773607159 CA7509072	536	A>T		No	ClinGen ExAC gnomAD
CA391972295 rs1164192661	541	D>G		No	ClinGen gnomAD
TCGA novel	543	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770324808 CA7509051	544	R>*		No	ClinGen ExAC TOPMed gnomAD
CA391970666 rs1311560827	544	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7509050 rs762142066	546	I>F		No	ClinGen ExAC TOPMed gnomAD
CA7509049 rs776931264	547	T>A		No	ClinGen ExAC gnomAD
rs769038885 CA391970589	548	H>L		No	ClinGen ExAC gnomAD
rs769038885 CA7509048	548	H>R		No	ClinGen ExAC gnomAD
TCGA novel	551	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1448655625 CA391970533	551	R>K		No	ClinGen gnomAD
rs1307684565 CA391970522	551	R>S		No	ClinGen TOPMed
CA391970512 rs1348974374	552	S>C		No	ClinGen TOPMed
rs1230393915 CA391970460	555	E>K		No	ClinGen TOPMed

No associated diseases with Q8NBN3

1 regional properties for Q8NBN3

Type	Name	Position	InterPro Accession
domain	Methyltransferase type 11	53 - 157	IPR013216

Functions

		Description
EC Number
Subcellular Localization	[Isoform 1]: Cell membrane ; Multi-pass membrane protein Golgi apparatus membrane ; Multi-pass membrane protein ;
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
Golgi cisterna membrane	The lipid bilayer surrounding any of the thin, flattened compartments that form the central portion of the Golgi complex.
Golgi membrane	The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
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.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

1 GO annotations of biological process

Name	Definition
retrograde transport, endosome to Golgi	The directed movement of membrane-bounded vesicles from endosomes back to the trans-Golgi network where they are recycled for further rounds of transport.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q96K49	TMEM87B	Transmembrane protein 87B	Homo sapiens (Human)	PR
Q8BKU8	Tmem87b	Transmembrane protein 87B	Mus musculus (Mouse)	PR
Q8BXN9	Tmem87a	Transmembrane protein 87A	Mus musculus (Mouse)	PR
Q28EW0	tmem87a	Transmembrane protein 87A	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR

10	20	30	40	50	60
MAAAAWLQVL	PVILLLLGAH	PSPLSFFSAG	PATVAAADRS	KWHIPIPSGK	NYFSFGKILF
70	80	90	100	110	120
RNTTIFLKFD	GEPCDLSLNI	TWYLKSADCY	NEIYNFKAEE	VELYLEKLKE	KRGLSGKYQT
130	140	150	160	170	180
SSKLFQNCSE	LFKTQTFSGD	FMHRLPLLGE	KQEAKENGTN	LTFIGDKTAM	HEPLQTWQDA
190	200	210	220	230	240
PYIFIVHIGI	SSSKESSKEN	SLSNLFTMTV	EVKGPYEYLT	LEDYPLMIFF	MVMCIVYVLF
250	260	270	280	290	300
GVLWLAWSAC	YWRDLLRIQF	WIGAVIFLGM	LEKAVFYAEF	QNIRYKGESV	QGALILAELL
310	320	330	340	350	360
SAVKRSLART	LVIIVSLGYG	IVKPRLGVTL	HKVVVAGALY	LLFSGMEGVL	RVTGAQTDLA
370	380	390	400	410	420
SLAFIPLAFL	DTALCWWIFI	SLTQTMKLLK	LRRNIVKLSL	YRHFTNTLIL	AVAASIVFII
430	440	450	460	470	480
WTTMKFRIVT	CQSDWRELWV	DDAIWRLLFS	MILFVIMVLW	RPSANNQRFA	FSPLSEEEEE
490	500	510	520	530	540
DEQKEPMLKE	SFEGMKMRST	KQEPNGNSKV	NKAQEDDLKW	VEENVPSSVT	DVALPALLDS
550
DEERMITHFE	RSKME