AiPD: Autoinhibited Protein Database

Q96HH4

Gene name	TMEM169
Protein name	Transmembrane protein 169
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:92691
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

18-102 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

18-102 (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 Q96HH4

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q96HH4-F1	Predicted				AlphaFoldDB

260 variants for Q96HH4

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
TCGA novel	2	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2096270 rs754043240	2	E>V		No	ClinGen ExAC gnomAD
rs1046012640 CA65578243	3	E>Q		No	ClinGen TOPMed gnomAD
rs199529919 CA2096272	10	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs751554745 CA2096273	12	Q>H		No	ClinGen ExAC gnomAD
CA350485577 rs1479173721	12	Q>P		No	ClinGen gnomAD
CA350485596 rs1419325415	15	S>I		No	ClinGen gnomAD
CA350485599 rs1448293554	16	P>T		No	ClinGen gnomAD
CA2096274 rs757245228	17	H>N		No	ClinGen ExAC TOPMed gnomAD
rs1472024910 CA350485614	18	Q>*		No	ClinGen TOPMed
rs868489246 CA65578253	19	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1173145003 CA350485622	19	G>S		No	ClinGen gnomAD
CA65578261 rs569168768	20	S>Y		No	ClinGen 1000Genomes
CA2096276 rs745335044	23	K>*		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	24	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2096277 rs140150309	25	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA350485661 rs1487811111	26	A>T		No	ClinGen TOPMed
TCGA novel	27	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs371420919 CA2096279	28	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1216373752 CA350485681	29	L>P		No	ClinGen TOPMed gnomAD
TCGA novel	29	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2096282 rs200022914	30	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs773382475 CA2096285	32	D>N		No	ClinGen ExAC TOPMed gnomAD
CA350485704 rs1474123804	33	G>V		No	ClinGen Ensembl
CA2096287 rs766440903	33	G>W		No	ClinGen ExAC gnomAD
CA65578342 rs908220828	34	E>V		No	ClinGen Ensembl
CA2096288 rs754009279	36	T>A		No	ClinGen ExAC gnomAD
rs1225215784 CA350485720	36	T>K		No	ClinGen TOPMed
CA350485731 rs1474643469	37	M>I		No	ClinGen TOPMed gnomAD
rs1365183776 CA350485728	37	M>R		No	ClinGen TOPMed
CA2096289 rs759772253	38	G>A		No	ClinGen ExAC gnomAD
rs138032584 CA2096292	39	H>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2096293 rs781248619	39	H>P		No	ClinGen ExAC gnomAD
rs138032584 CA2096291	39	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2096294 rs369348749	40	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA350485753 rs1344904702	41	K>I		No	ClinGen gnomAD
TCGA novel	42	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	42	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2096295 rs755615021	43	K>E		No	ClinGen ExAC gnomAD
CA65578365 rs965583576	45	K>*		No	ClinGen TOPMed
rs753181988 CA65578366	46	E>*		No	ClinGen gnomAD
rs1279629345 CA350485788	46	E>G		No	ClinGen gnomAD
rs753181988 CA350485785	46	E>Q		No	ClinGen gnomAD
rs1340742739 CA350485794	47	S>A		No	ClinGen gnomAD
CA2096297 rs146119140	48	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs199942235 CA65578388	48	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs199942235 CA2096298	48	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs146119140 CA350485799	48	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA350485803 rs1487744593	49	P>S		No	ClinGen TOPMed gnomAD
CA350485820 rs1487474472	51	S>F		No	ClinGen gnomAD
rs772617262 CA2096301	52	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1212023750 CA350485838	54	I>T		No	ClinGen gnomAD
rs773623167 CA2096302	55	Y>H		No	ClinGen ExAC gnomAD
CA350485849 rs372176280 COSM1405354	56	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs372176280 CA2096303	56	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA2096304 rs143856543 COSM73010	56	R>H	ovary endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs143856543 COSM1405356 CA2096305	56	R>L	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs535670902 CA2096307	58	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA350485857 rs1163714792	58	D>H		No	ClinGen gnomAD
CA65578418 rs112190947	63	D>G		No	ClinGen Ensembl
rs1310275973 CA350485938	64	E>V		No	ClinGen TOPMed
rs774332295 CA2096309	66	P>A		No	ClinGen ExAC TOPMed gnomAD
rs774332295 CA65578432	66	P>S		No	ClinGen ExAC TOPMed gnomAD
CA2096311 rs374430787	67	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs750336955 CA2096312	68	E>K		No	ClinGen ExAC TOPMed gnomAD
CA2096313 rs756023565	68	E>V		No	ClinGen ExAC TOPMed gnomAD
CA2096314 rs765865523	72	G>R		No	ClinGen ExAC gnomAD
CA2096315 rs753343321	73	D>G		No	ClinGen ExAC gnomAD
CA65578452 rs753343321	73	D>V		No	ClinGen ExAC gnomAD
rs778515573 CA2096317	77	E>K		No	ClinGen ExAC TOPMed gnomAD
CA65578461 rs778515573	77	E>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	78	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2096318 rs747758906	80	G>E		No	ClinGen ExAC TOPMed
CA350486175 rs1366659065 CA350486177	80	G>R		No	ClinGen TOPMed gnomAD
CA350486185 rs747758906	80	G>V		No	ClinGen ExAC TOPMed
CA2096319 rs758766962	82	D>G		No	ClinGen ExAC gnomAD
rs1378613538 CA350486263	86	Y>C		No	ClinGen gnomAD
rs778140486 CA2096320	86	Y>H		No	ClinGen ExAC gnomAD
CA350486290 rs1160426094	88	V>G		No	ClinGen gnomAD
rs1380640721 CA350486332	90	D>E		No	ClinGen gnomAD
CA350486340 rs1433894168	91	D>Y		No	ClinGen gnomAD
rs764660312 CA2096334	92	M>I		No	ClinGen ExAC
rs150891046 CA2096333	92	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs752359617 CA2096335	94	N>T		No	ClinGen ExAC gnomAD
rs1473171273 CA350487330	95	L>M		No	ClinGen TOPMed
CA65584537 rs1010878405	95	L>R		No	ClinGen Ensembl
rs1397435903 CA350487336	96	P>A		No	ClinGen TOPMed gnomAD
CA2096338 rs747365078	98	D>A		No	ClinGen ExAC gnomAD
rs377120029 CA2096339	99	S>G		No	ClinGen ESP ExAC gnomAD
CA350487354 rs1303837540	99	S>N		No	ClinGen gnomAD
CA2096340 rs78272258	99	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2096341 rs374450027	100	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs770002384 COSM289493 CA2096342	100	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs770002384 CA65584565	100	R>L		No	ClinGen ExAC TOPMed gnomAD
CA350487361 rs770002384	100	R>P		No	ClinGen ExAC TOPMed gnomAD
CA2096344 rs147230933	102	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs768922455 CA2096345	103	T>I		No	ClinGen ExAC gnomAD
CA2096346 rs772921859	104	L>S		No	ClinGen ExAC gnomAD
rs1559229892 CA350487395	106	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA350487405 rs1356460850	108	I>V		No	ClinGen TOPMed
CA350487416 rs1316479844	109	T>I		No	ClinGen TOPMed
rs770582989 CA2096348	110	R>*		No	ClinGen ExAC TOPMed gnomAD
CA2096349 rs143173919	110	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	111	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1421031613 CA350487435	113	K>Q		No	ClinGen gnomAD
CA2096350 rs759410948	116	Q>*		No	ClinGen ExAC gnomAD
rs553838763 CA65584601	117	M>V		No	ClinGen 1000Genomes gnomAD
CA350487471 rs1444904053	118	V>M		No	ClinGen TOPMed
rs1328027717 CA350487486	120	I>V		No	ClinGen TOPMed gnomAD
rs1348846438 CA350487497	121	H>L		No	ClinGen gnomAD
CA2096351 rs764782751	122	V>L		No	ClinGen ExAC gnomAD
rs1368689983 CA350487515	124	L>S		No	ClinGen gnomAD
rs762549671 CA2096353	125	T>S		No	ClinGen ExAC gnomAD
CA350487537 rs1342597024	127	K>N		No	ClinGen gnomAD
rs1219529909 CA350487543	128	E>G		No	ClinGen gnomAD
rs373657005 CA2096355	129	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	132	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1249326947 CA350487568	132	L>V		No	ClinGen gnomAD
rs1381223695 CA350487590	135	P>L		No	ClinGen TOPMed
rs372046380 CA2096357	136	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA2096358 rs193007190	137	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2096359 rs756677762	138	S>T		No	ClinGen ExAC
rs780350778 CA2096361	139	S>P		No	ClinGen ExAC gnomAD
rs749357209 CA2096362	140	R>K		No	ClinGen ExAC gnomAD
rs542724514 CA2096363	141	E>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs542724514 CA350487625	141	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	141	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350487622 rs1253942469	141	E>K		No	ClinGen gnomAD
rs779218750 CA2096364 COSM252876	142	T>M	lung ovary large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA2096367 rs201548005	143	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs201548005 CA350487645	143	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA350487650 rs1352331690	144	P>S		No	ClinGen TOPMed
rs1352331690 CA350487652	144	P>T		No	ClinGen TOPMed
TCGA novel	145	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA65584699 rs1050150985	148	M>I		No	ClinGen TOPMed
rs1419683090 CA350487711	148	M>R		No	ClinGen gnomAD
rs769687493 CA2096369	148	M>V		No	ClinGen ExAC gnomAD
rs766422942 CA65584700	149	A>P		No	ClinGen gnomAD
CA350487723 rs766422942	149	A>T		No	ClinGen gnomAD
rs1362888346 CA350487743	150	C>S		No	ClinGen TOPMed gnomAD
CA2096371 rs142551536	151	Q>H		No	ClinGen ESP ExAC gnomAD
CA2096373 rs368185957	154	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA2096374 rs761317188	156	R>C		No	ClinGen ExAC TOPMed gnomAD
CA65584707 COSM442292 rs964253350	156	R>H	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
TCGA novel	158	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2096375 rs544060749	158	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1161582317 CA350487874	159	H>L		No	ClinGen TOPMed
rs1161582317 CA350487872	159	H>P		No	ClinGen TOPMed
rs1431490750 CA350487869	159	H>Y		No	ClinGen gnomAD
rs750816269 CA2096377	160	V>L		No	ClinGen ExAC gnomAD
rs750816269 CA2096378	160	V>M		No	ClinGen ExAC gnomAD
CA2096379 rs780686020	161	V>D		No	ClinGen ExAC gnomAD
TCGA novel	161	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754252413 CA2096380	163	W>R		No	ClinGen ExAC gnomAD
rs755117065 CA2096382	164	T>K		No	ClinGen ExAC TOPMed gnomAD
COSM2717553 CA2096381 rs755117065	164	T>M	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA350487957 rs1559230124	166	I>F		No	ClinGen Ensembl
CA2096386 rs532736507	166	I>M		No	ClinGen 1000Genomes ExAC gnomAD
rs1052957778 CA65584791	171	V>I		No	ClinGen gnomAD
CA350487990 rs1052957778	171	V>L		No	ClinGen gnomAD
rs748230391 CA65584793	173	I>L		No	ClinGen Ensembl
CA2096387 rs769527190	174	L>P		No	ClinGen ExAC
rs1559230159 CA350488017	175	S>C		No	ClinGen Ensembl
rs749109987 CA2096389	177	V>F		No	ClinGen ExAC TOPMed
CA350488031 rs749109987	177	V>L		No	ClinGen ExAC TOPMed
rs768229639 CA2096390	180	F>L		No	ClinGen ExAC gnomAD
CA350488093 rs1420705073	181	Y>C		No	ClinGen TOPMed gnomAD
rs759326769 CA65584839	181	Y>H		No	ClinGen Ensembl
TCGA novel	183	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2096392 rs765234985	183	G>S		No	ClinGen ExAC TOPMed gnomAD
CA350488136 rs767251631	184	T>I		No	ClinGen ExAC TOPMed gnomAD
rs767251631 CA2096393	184	T>S		No	ClinGen ExAC TOPMed gnomAD
rs773761983 CA2096394	187	W>*		No	ClinGen ExAC gnomAD
COSM323875 rs761143727 CA2096395	188	Y>C	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1224134899 CA350488214	189	N>K		No	ClinGen gnomAD
rs1355514408 CA350488207	189	N>S		No	ClinGen gnomAD
CA2096399 rs765422463	193	V>A		No	ClinGen ExAC gnomAD
rs755426467 CA2096398	193	V>M		No	ClinGen ExAC gnomAD
rs752687811 CA2096400	194	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1240574453 CA350488363	195	N>S		No	ClinGen gnomAD
TCGA novel	198	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	201	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350488433 rs1399881583	204	I>T		No	ClinGen TOPMed
CA350488441 rs1172347853	205	S>L		No	ClinGen TOPMed gnomAD
CA65584862 rs372716763	206	Y>C		No	ClinGen ESP TOPMed
CA350488456 rs1553565594	207	C>W		No	ClinGen Ensembl
CA350488470 rs1416355045	209	C>W		No	ClinGen gnomAD
rs75335764 CA2096404	211	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA65584878 rs75335764	211	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA350488486 rs1317172526	212	L>R		No	ClinGen gnomAD
CA2096406 rs749308901	214	Y>D		No	ClinGen ExAC TOPMed gnomAD
CA2096407 rs749308901	214	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs773955265 CA2096408	215	P>Q		No	ClinGen ExAC gnomAD
rs747642228 CA2096409	216	V>L		No	ClinGen ExAC TOPMed gnomAD
rs747642228 CA2096410	216	V>M		No	ClinGen ExAC TOPMed gnomAD
rs368056286 CA2096412	218	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA350488529 rs1316671347	219	M>I		No	ClinGen gnomAD
rs1027343499 CA65584919	219	M>T		No	ClinGen TOPMed gnomAD
CA350488535 rs1236607444	220	A>V		No	ClinGen TOPMed
CA2096413 rs766781898	221	M>T		No	ClinGen ExAC gnomAD
CA350488560 rs1203845063	224	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
COSM4138323 rs760126965 CA2096415	226	G>S	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA2096416 rs765638704	228	Y>C		No	ClinGen ExAC gnomAD
rs1245309423 CA350488580	228	Y>H		No	ClinGen gnomAD
CA2096418 COSM1016213 rs758500355	229	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs764091801 CA2096419	230	A>T		No	ClinGen ExAC gnomAD
CA2096420 rs751790852	233	Q>P		No	ClinGen ExAC
rs779968539 CA2096422	235	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
rs757460784 CA2096421	235	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1410391301 CA350488669	241	W>*		No	ClinGen gnomAD
rs1347843575 CA350488675	242	W>*		No	ClinGen gnomAD
CA2096424 rs142981658	243	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA350488696 rs1043932695	245	A>S		No	ClinGen TOPMed gnomAD
rs1043932695 CA65585028	245	A>T		No	ClinGen TOPMed gnomAD
rs955765066 CA65585034	245	A>V		No	ClinGen Ensembl
rs748059072 CA2096426	246	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs778739110 CA2096425	246	R>W		No	ClinGen ExAC gnomAD
rs1209719884 CA350488707	247	D>E		No	ClinGen gnomAD
rs140200885 CA2096427	247	D>N		No	ClinGen ESP ExAC gnomAD
TCGA novel	248	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1288365799 CA350488709	248	M>L		No	ClinGen gnomAD
rs879622684 CA65585067	249	E>K		No	ClinGen Ensembl
CA350488737 rs1559230462	251	G>D		No	ClinGen Ensembl
COSM1405360 CA2096428 rs777361974	253	C>Y	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA2096430 rs372269583	262	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1412379740 CA350488817	263	E>G		No	ClinGen TOPMed
CA2096431 rs777102335	263	E>Q		No	ClinGen ExAC gnomAD
rs770152087 CA2096433	264	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1407066415 CA350488833	265	C>F		No	ClinGen gnomAD
rs1411523078 CA350488829	265	C>R		No	ClinGen gnomAD
TCGA novel	270	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2096434 rs775976594	271	V>A		No	ClinGen ExAC TOPMed gnomAD
rs763389781 CA2096435	272	E>K		No	ClinGen ExAC gnomAD
rs764212935 CA2096436	273	L>F		No	ClinGen ExAC gnomAD
CA2096439 rs139020062	277	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2096438 rs139020062	277	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201189708 CA2096440	281	S>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1574440537 CA350488968	282	T>P		No	ClinGen Ensembl
CA350488985 rs979488349	283	L>H		No	ClinGen TOPMed gnomAD
rs979488349 CA65585181	283	L>P		No	ClinGen TOPMed gnomAD
CA350488981 rs1281989660	283	L>V		No	ClinGen gnomAD
CA2096441 rs754761398	284	S>C		No	ClinGen ExAC TOPMed gnomAD
rs1247412978 CA350488991	284	S>P		No	ClinGen gnomAD
CA2096442 rs778702868	285	N>D		No	ClinGen ExAC TOPMed gnomAD
CA350489004 rs778702868	285	N>H		No	ClinGen ExAC TOPMed gnomAD
rs752697381 CA2096443	285	N>T		No	ClinGen ExAC TOPMed gnomAD
CA65585191 rs768984281	286	K>N		No	ClinGen Ensembl
rs1262695875 CA350489024	286	K>R		No	ClinGen gnomAD
rs1574440616 CA350489039	287	D>A		No	ClinGen Ensembl
rs1442127999 CA350489046	287	D>E		No	ClinGen gnomAD
rs1375020224 CA350489032	287	D>N		No	ClinGen TOPMed
CA2096444 rs758398610	288	P>L		No	ClinGen ExAC TOPMed gnomAD
rs758398610 CA350489058	288	P>R		No	ClinGen ExAC TOPMed gnomAD
CA350489108 rs1239334398	291	E>D		No	ClinGen gnomAD
CA2096446 rs746493494	293	E>K		No	ClinGen ExAC gnomAD
CA350489140 rs1574440667	294	T>P		No	ClinGen Ensembl
rs375504102 CA2096448	295	S>F		No	ClinGen ESP ExAC TOPMed
rs1417646760 CA350489169	296	T>A		No	ClinGen gnomAD
CA2096449 rs142015527	296	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA2096451 rs775815269	297	V>A		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q96HH4

No regional properties for Q96HH4

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q96HH4

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

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8BG50	Tmem169	Transmembrane protein 169	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MEEPTAVEGQ	VQLPSPHQGS	LRKAVAAALA	LDGESTMGHR	KKKRKESRPE	SIIIYRSDNE
70	80	90	100	110	120
KTDEEPGESE	GGDQPKEEEG	DDFLDYPVDD	DMWNLPLDSR	YVTLTGTITR	GKKKGQMVDI
130	140	150	160	170	180
HVTLTEKELQ	ELTKPKESSR	ETTPEGRMAC	QMGADRGPHV	VLWTLICLPV	VFILSFVVSF
190	200	210	220	230	240
YYGTITWYNI	FLVYNEERTF	WHKISYCPCL	VLFYPVLIMA	MASSLGLYAA	VVQLSWSWEA
250	260	270	280	290
WWQAARDMEK	GFCGWLCSKL	GLEDCSPYSI	VELLESDNIS	STLSNKDPIQ	EVETSTV