AiPD: Autoinhibited Protein Database

Q8N614

Gene name	TMEM156
Protein name	Transmembrane protein 156
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:80008
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

137-206 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

137-206 (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 Q8N614

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8N614-F1	Predicted				AlphaFoldDB

256 variants for Q8N614

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA356622793 rs1236064407	2	T>I		No	ClinGen TOPMed gnomAD
CA356622795 rs1236064407	2	T>K		No	ClinGen TOPMed gnomAD
CA2890946 rs754039166	4	T>I		No	ClinGen ExAC TOPMed gnomAD
rs766554584 CA2890945	5	A>S		No	ClinGen ExAC TOPMed gnomAD
CA2890944 rs760790182	5	A>V		No	ClinGen ExAC gnomAD
CA2890942 rs768010165	6	L>I		No	ClinGen ExAC TOPMed gnomAD
rs1039584198 CA95645685	8	K>E		No	ClinGen Ensembl
TCGA novel	10	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762242624 CA2890940	10	F>L		No	ClinGen ExAC TOPMed gnomAD
CA356622690 rs1375324637	10	F>S		No	ClinGen gnomAD
rs200082421 CA95645655	12	A>T		No	ClinGen Ensembl
rs774854003 CA2890939	12	A>V		No	ClinGen ExAC TOPMed gnomAD
CA356622671 rs1577600193	13	I>M		No	ClinGen Ensembl
rs1297068789 CA356622673	13	I>T		No	ClinGen gnomAD
rs138571390 CA2890937	15	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	19	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2890936 rs377695100	21	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1353707004 CA356622620	21	L>S		No	ClinGen TOPMed
CA2890935 rs769380937	22	P>L		No	ClinGen ExAC gnomAD
CA2890933 rs776345356	23	E>G		No	ClinGen ExAC gnomAD
rs937612766 CA95645639	25	F>C		No	ClinGen TOPMed gnomAD
rs867945193 CA95645638	26	K>E		No	ClinGen Ensembl
rs1187598743 CA356622581	27	T>A		No	ClinGen gnomAD
CA2890930 rs61732938	28	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2890931 rs61732938	28	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs367661191 CA2890932	28	P>S		No	ClinGen ExAC gnomAD
CA2890928 rs141095630	30	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA356622564 rs141095630	30	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA356625842 rs1215767045	32	T>I		No	ClinGen TOPMed gnomAD
rs746042240 CA2890907	33	L>*		No	ClinGen ExAC gnomAD
rs1478786481 CA356625841	33	L>M		No	ClinGen TOPMed
rs1478786481 CA356625840	33	L>V		No	ClinGen TOPMed
CA2890905 rs757296048	34	E>A		No	ClinGen ExAC TOPMed gnomAD
CA356625819 rs1275236510	36	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA356625792 rs1172660541	40	V>A		No	ClinGen TOPMed gnomAD
CA356625791 rs1172660541	40	V>G		No	ClinGen TOPMed gnomAD
rs1577548045 CA356625796	40	V>M		No	ClinGen Ensembl
rs753250432 CA2890901	42	L>V		No	ClinGen ExAC gnomAD
rs765460152 CA2890900	43	Q>*		No	ClinGen ExAC gnomAD
rs35576563 VAR_031756 CA2890898	48	Y>C		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs146524602 CA2890899	48	Y>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs35576563 CA356625739	48	Y>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766165411 CA2890897	50	L>I		No	ClinGen ExAC gnomAD
rs1193802065 CA356625721	51	S>Y		No	ClinGen gnomAD
rs1385147367 CA356625709	53	L>S		No	ClinGen TOPMed
CA95666059 rs1050199196	57	F>S		No	ClinGen Ensembl
rs1423211136 CA356625663	60	F>L		No	ClinGen TOPMed
rs1325953318 CA356625649	62	Q>*		No	ClinGen TOPMed
rs980595760 CA95666056	62	Q>H		No	ClinGen TOPMed gnomAD
rs761600988 CA2890892	64	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1560371665 CA356625633	65	R>G		No	ClinGen Ensembl
rs1302052140 CA356625601	67	T>I		No	ClinGen gnomAD
CA95666048 rs548229487	69	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA2890889 rs375624388	71	M>I		No	ClinGen ESP ExAC gnomAD
rs1287890266 CA356625552	71	M>L		No	ClinGen TOPMed
rs768297722 CA2890890	71	M>T		No	ClinGen ExAC TOPMed gnomAD
CA2890888 rs781371439	72	R>K		No	ClinGen ExAC TOPMed gnomAD
rs771199957 CA2890887	74	F>L		No	ClinGen ExAC TOPMed gnomAD
CA356625456 rs747086721	77	P>H		No	ClinGen ExAC TOPMed gnomAD
rs747086721 CA2890886	77	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA95666026 rs868849745	77	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA2890884 rs777646490	79	N>S		No	ClinGen ExAC TOPMed gnomAD
CA356625425 rs1174268367	80	F>L		No	ClinGen gnomAD
rs13118782 CA2890883 COSM2149627	81	R>C	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA95666007 rs13118782	81	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA2890882 rs753092587	81	R>H		No	ClinGen ExAC TOPMed gnomAD
rs13118782 CA356625412	81	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2890880 rs369187393	84	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs554293623 CA2890881	84	T>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1440785281 CA356625353	86	T>A		No	ClinGen gnomAD
CA356625312 rs1183976079	88	Q>*		No	ClinGen gnomAD
CA2890879 rs754316294	89	D>A		No	ClinGen ExAC TOPMed gnomAD
rs754316294 COSM1429590 CA356625297	89	D>G	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1189294775 CA356625294	90	I>L		No	ClinGen TOPMed
rs1279003373 CA356625291	90	I>S		No	ClinGen gnomAD
CA356625269 rs1472106524	92	G>D		No	ClinGen TOPMed
rs1242545906 CA356625272	92	G>R		No	ClinGen TOPMed
CA356625243 rs1347785317	94	F>I		No	ClinGen gnomAD
CA2890875 rs140426497	99	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA356625149 rs1413172395	100	C>R		No	ClinGen gnomAD
CA356625127 rs1354995014	101	L>F		No	ClinGen gnomAD
rs761420473 CA356625123	102	V>I		No	ClinGen ExAC gnomAD
CA2890873 rs761420473	102	V>L		No	ClinGen ExAC gnomAD
rs1157992308 CA356625101	103	C>Y		No	ClinGen TOPMed
rs376203312 CA2890872	104	E>D		No	ClinGen ESP ExAC gnomAD
rs1363379012 CA356625085	104	E>G		No	ClinGen gnomAD
rs1441695645 CA356625071	105	S>F		No	ClinGen TOPMed gnomAD
CA2890871 VAR_051430 rs11542133	105	S>P		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA356625078 rs11542133	105	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762721927 CA2890870	106	K>R		No	ClinGen ExAC TOPMed gnomAD
rs775330615 CA2890869	107	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA356625039 rs1285849827	108	N>S		No	ClinGen TOPMed
rs747174700 CA2890867	109	M>T		No	ClinGen ExAC gnomAD
rs769579421 CA2890868	109	M>V		No	ClinGen ExAC gnomAD
rs1256312963 CA356625008	110	D>G		No	ClinGen gnomAD
CA356624987 rs778075341	112	I>L		No	ClinGen ExAC TOPMed gnomAD
CA2890866 COSM3946333 rs778075341	112	I>V	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA95665935 rs984189811	115	E>*		No	ClinGen gnomAD
CA95665930 rs1028708434	117	T>I		No	ClinGen TOPMed gnomAD
rs538166515 CA2890864	118	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA356624757 rs1351942190	118	S>T		No	ClinGen gnomAD
rs182803649 CA95662907	120	V>A		No	ClinGen 1000Genomes
rs755612759 CA2890862	120	V>F		No	ClinGen ExAC TOPMed gnomAD
rs755612759 CA356624744	120	V>I		No	ClinGen ExAC TOPMed gnomAD
CA95662901 rs78067408	123	R>S		No	ClinGen Ensembl
CA95662896 rs368427375	125	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA
CA2890846 rs748175302	126	S>L		No	ClinGen ExAC gnomAD
CA2890845 rs774510027	127	M>T		No	ClinGen ExAC TOPMed gnomAD
CA356624649 rs1228188880	127	M>V		No	ClinGen gnomAD
CA356624613 rs1560368462	130	K>E		No	ClinGen Ensembl
CA2890844 rs768872774	130	K>T		No	ClinGen ExAC TOPMed gnomAD
CA95662866 rs149276693 COSM109041	133	D>N	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA2890843 rs367723964	135	H>N		No	ClinGen ESP ExAC gnomAD
rs375386331 CA2890842	135	H>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs375386331 CA2890841	135	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA2890840 rs147295252	136	S>*		No	ClinGen ESP ExAC gnomAD
rs780696543 CA2890839	138	C>R		No	ClinGen ExAC gnomAD
CA2890838 rs757000184	138	C>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	139	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2890837 rs763535997	140	H>N		No	ClinGen ExAC gnomAD
CA2890836 rs763535997	140	H>Y		No	ClinGen ExAC gnomAD
rs757925302 CA2890835	141	F>L		No	ClinGen ExAC gnomAD
rs531321351 CA2890832	143	F>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs531321351 CA2890833	143	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA95662793 rs779236073	144	S>N		No	ClinGen TOPMed gnomAD
rs1425628406 CA356624426	144	S>R		No	ClinGen TOPMed
CA2890831 rs776543290	145	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1254028670 CA356624415	145	V>I		No	ClinGen gnomAD
rs1272608729 CA356624400	146	A>D		No	ClinGen gnomAD
CA356624403 rs1436318971	146	A>P		No	ClinGen gnomAD
rs766096137 CA2890830	149	V>I		No	ClinGen ExAC TOPMed gnomAD
CA95662740 rs986193973	152	L>F		No	ClinGen TOPMed gnomAD
rs1560368305 CA356624322	153	E>Q		No	ClinGen Ensembl
rs1438298447 CA356624293 CA356624291	154	E>D		No	ClinGen TOPMed gnomAD
rs1315034107 CA356624303	154	E>K		No	ClinGen TOPMed
TCGA novel	157	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356624235 rs1239783305	158	T>I		No	ClinGen TOPMed
CA356624230 rs1429927830	159	C>R		No	ClinGen gnomAD
rs953468732 CA95662737	160	H>L		No	ClinGen TOPMed
rs1242666329 CA356624195	161	L>P		No	ClinGen TOPMed
rs1380942549 CA356624170	163	N>I		No	ClinGen gnomAD
rs1384693758 CA356624167	163	N>K		No	ClinGen TOPMed gnomAD
CA95662736 rs111613846	164	H>R		No	ClinGen gnomAD
CA356624118 rs1396183452	167	R>I		No	ClinGen gnomAD
CA2890826 CA2890825 rs372364737	168	S>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1378820270 CA356624104	169	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1232610210 CA356624095	170	I>T		No	ClinGen gnomAD
CA2890824 rs776120993	171	M>T		No	ClinGen ExAC gnomAD
rs770391228 CA2890823	172	E>K		No	ClinGen ExAC gnomAD
rs191093925 CA2890822	173	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	174	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2890821 rs781552948	175	P>A		No	ClinGen ExAC gnomAD
rs757575077 CA2890820	176	S>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	177	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	178	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA95662674 rs112975029	178	E>G		No	ClinGen Ensembl
CA2890819 rs746613174	180	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1577539037 CA356623906	183	Y>C		No	ClinGen Ensembl
rs1173014856 CA356623873	185	C>Y		No	ClinGen gnomAD
rs1351931871 CA356623861	186	R>T		No	ClinGen gnomAD
rs1310592954 CA356623853	187	I>N		No	ClinGen gnomAD
rs35765498 CA2890814	188	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1477666440 CA356623846	188	M>T		No	ClinGen TOPMed gnomAD
rs1284796844 CA356623840	189	E>*		No	ClinGen TOPMed
CA2890813 rs753737568	190	Y>*		No	ClinGen ExAC gnomAD
CA356623830 rs1178890973	190	Y>C		No	ClinGen gnomAD
CA2890812 rs374846893	191	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA356623823 rs374846893	191	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs140187810 CA2890810	192	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2890809 rs764462459	194	C>Y		No	ClinGen ExAC
CA356623794 rs763111686	195	I>M		No	ClinGen ExAC gnomAD
CA356623799 rs1255631969	195	I>V		No	ClinGen gnomAD
CA2890806 rs775779853	196	H>P		No	ClinGen ExAC TOPMed gnomAD
rs1212154469 CA356623774	198	S>F	Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA356623766 rs1315049901	200	H>N		No	ClinGen gnomAD
CA356623749 rs1577538811	202	E>G		No	ClinGen Ensembl
CA2890803 rs777023829	205	I>V		No	ClinGen ExAC gnomAD
CA356623696 rs1360614130	207	N>K		No	ClinGen gnomAD
CA356623698 rs1212266641	207	N>S		No	ClinGen gnomAD
CA95658901 rs757111297	208	I>T		No	ClinGen Ensembl
rs1392744075 CA356623673	211	S>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA356623666 rs2276887	212	M>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2890787 rs143325693	212	M>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_031757 CA2890786 rs2276887	212	M>T		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs765312285 CA2890785	213	K>T		No	ClinGen ExAC gnomAD
CA356623642 rs1360612072	215	T>I		No	ClinGen TOPMed
rs546879464 CA2890784	216	W>L		No	ClinGen 1000Genomes ExAC gnomAD
CA2890782 rs771388235	218	I>S		No	ClinGen ExAC gnomAD
CA2890783 rs771388235	218	I>T		No	ClinGen ExAC gnomAD
CA356623624 rs1390807841	218	I>V		No	ClinGen gnomAD
TCGA novel	220	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356623601 rs1451252751	222	L>V		No	ClinGen gnomAD
CA95658834 rs137856529	223	V>I		No	ClinGen ESP TOPMed gnomAD
rs761011586 CA2890781	225	I>K		No	ClinGen ExAC TOPMed gnomAD
rs1380979787 CA356623582	225	I>V		No	ClinGen TOPMed
rs1266874884 CA356623575	226	F>L		No	ClinGen gnomAD
CA2890780 rs773630320	227	L>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	228	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1306426204 CA356623555	229	I>V		No	ClinGen gnomAD
CA2890779 rs772442192	230	L>F		No	ClinGen ExAC gnomAD
CA356623540 rs747753222	231	T>N		No	ClinGen ExAC gnomAD
CA2890778 rs747753222	231	T>S		No	ClinGen ExAC gnomAD
CA2890776 rs370274406	233	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA2890775 rs572792495 COSM1055178	233	R>H	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA356623530 COSM733522 rs370274406	233	R>S	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs780027904 CA2890774	235	I>T		No	ClinGen ExAC gnomAD
CA356623512 rs1347256624	236	L>V		No	ClinGen TOPMed
rs1296687584 CA356623496	238	G>V		No	ClinGen gnomAD
rs745805769 CA2890772	239	Q>H		No	ClinGen ExAC gnomAD
CA2890773 rs756189252	239	Q>R		No	ClinGen ExAC gnomAD
rs1170554232 CA356623484	240	R>T		No	ClinGen gnomAD
rs1208893453 CA356623476	241	R>I		No	ClinGen TOPMed
CA2890771 rs746577642	242	V>L		No	ClinGen ExAC gnomAD
CA95658781 rs1021199962	247	S>G		No	ClinGen TOPMed
CA356622933 rs1475441948	248	H>L		No	ClinGen TOPMed
CA356622934 rs1475441948	248	H>R		No	ClinGen TOPMed
rs918795203 CA95656859	248	H>Y		No	ClinGen Ensembl
rs570592983 CA2890744	249	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	249	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2890743 rs756219475 CA356622918	250	D>E		No	ClinGen ExAC TOPMed gnomAD
rs550624395 CA2890742	252	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA356622906 rs1577524125	252	P>L		No	ClinGen Ensembl
CA95656802 rs550624395	252	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2890741 rs768065261	253	T>I		No	ClinGen ExAC TOPMed gnomAD
CA356622893 rs150724285	255	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA2890740 rs150724285	255	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs376735458 CA2890739	259	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA356622851 rs1354905836	260	S>T		No	ClinGen gnomAD
rs141184335 CA2890738	261	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA2890737 rs775228693	262	S>*		No	ClinGen ExAC TOPMed gnomAD
CA2890736 rs775228693	262	S>L		No	ClinGen ExAC TOPMed gnomAD
CA2890735 rs750972915	265	L>R		No	ClinGen ExAC TOPMed gnomAD
rs745411479 CA2890734	266	R>K		No	ClinGen ExAC gnomAD
rs1456532456 CA356622778	267	A>E		No	ClinGen TOPMed gnomAD
rs1456532456 CA356622777	267	A>V		No	ClinGen TOPMed gnomAD
rs1160937165 CA356622750	270	V>E		No	ClinGen TOPMed gnomAD
CA2890733 rs200553593	270	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA356622742 rs1182373498	271	Q>*		No	ClinGen TOPMed
CA2890731 rs144751214	271	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA2890730 rs75988651	272	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA356622536 rs1560352122	277	T>I		No	ClinGen Ensembl
rs138037909 CA2890709	278	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs781192828 CA2890706	279	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA2890705 rs757380948	279	Q>H		No	ClinGen ExAC gnomAD
rs781192828 CA356622530	279	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs751968481 CA2890704	283	L>F		No	ClinGen ExAC TOPMed gnomAD
CA2890703 rs374997164	284	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA356622498 rs1406674087	284	D>N		No	ClinGen gnomAD
rs758668289 CA2890702	286	V>L		No	ClinGen ExAC gnomAD
rs753169589 CA2890701	287	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs753169589 CA356622477	287	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1392533841 CA356622465	289	V>M		No	ClinGen gnomAD
CA2890699 rs369180900	290	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs765754969 CA2890697	293	I>V		No	ClinGen ExAC gnomAD
CA2890696 rs760275934	295	E>D		No	ClinGen ExAC TOPMed gnomAD
CA356622414 rs140693293	297	L>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD

No associated diseases with Q8N614

3 regional properties for Q8N614

Type	Name	Position	InterPro Accession
domain	Transmembrane protein TMEM132, N-terminal	50 - 167	IPR031435
domain	Transmembrane protein TMEM132, C-terminal	821 - 902	IPR031436
domain	Transmembrane protein family 132, middle domain	407 - 749	IPR031437

Functions

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

1 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.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MTKTALLKLF	VAIVITFILI	LPEYFKTPKE	RTLELSCLEV	CLQSNFTYSL	SSLNFSFVTF
70	80	90	100	110	120
LQPVRETQII	MRIFLNPSNF	RNFTRTCQDI	TGEFKMCSSC	LVCESKGNMD	FISQEQTSKV
130	140	150	160	170	180
LIRRGSMEVK	ANDFHSPCQH	FNFSVAPLVD	HLEEYNTTCH	LKNHTGRSTI	MEDEPSKEKS
190	200	210	220	230	240
INYTCRIMEY	PNDCIHISLH	LEMDIKNITC	SMKITWYILV	LLVFIFLIIL	TIRKILEGQR
250	260	270	280	290
RVQKWQSHRD	KPTSVLLRGS	DSEKLRALNV	QVLSAETTQR	LPLDQVQEVL	PPIPEL