AiPD: Autoinhibited Protein Database

Q5SRN2

Gene name	TSBP1
Protein name	Testis-expressed basic protein 1
Names	Uncharacterized protein C6orf10
Species	Homo sapiens (Human)
KEGG Pathway	hsa:10665
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

290-363 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

290-363 (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 Q5SRN2

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q5SRN2-F1	Predicted				AlphaFoldDB

394 variants for Q5SRN2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA363563657 rs1403692618	2	T>A		No	ClinGen gnomAD
rs1390877652 CA363563606	8	L>V		No	TOPMed gnomAD ClinGen
CA3741142 rs752298332	10	V>I		No	ExAC gnomAD ClinGen
CA3741140 rs754487713	16	G>R		No	ExAC gnomAD ClinGen
rs138738240 CA136948430	17	L>F		No	ESP TOPMed gnomAD ClinGen
rs138738240 CA363563556	17	L>I		No	ESP TOPMed gnomAD ClinGen
rs1232644917 CA363563550	18	A>P		No	gnomAD ClinGen
CA363563522 rs1179980126	22	I>T		No	ClinGen gnomAD
CA363563488 rs1290712546	26	R>*		No	gnomAD ClinGen
CA363563484 rs1396642677	26	R>K		No	ClinGen TOPMed gnomAD
rs753364801 CA3741139	27	W>R		No	ExAC TOPMed gnomAD ClinGen
rs1206065124 CA363563470	27	W>S		No	TOPMed ClinGen
rs146039767 CA3741138	28	A>V		No	ESP ExAC gnomAD ClinGen
rs149451141 CA3741136	29	R>*		No	ESP ExAC TOPMed gnomAD ClinGen
CA3741135 rs767931000	29	R>P		No	ExAC gnomAD ClinGen
rs767931000 CA363563443	29	R>Q		No	ClinGen ExAC gnomAD
rs3129941	30	C>C		No	1000Genomes ESP ExAC TOPMed gnomAD
rs774671654	30	C>H		No	ExAC gnomAD
rs3129941 CA3741134 VAR_022875	30	C>R		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP
rs3129941 CA363563440	30	C>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs774671654 CA3741133	30	C>Y		No	ClinGen ExAC gnomAD
rs1171022331 CA363563391	33	S>T		No	TOPMed gnomAD ClinGen
rs1356277810 CA363563277	35	M>I		No	ClinGen TOPMed
CA136948029 rs759374091	36	Y>C		No	gnomAD ClinGen
CA3741119 VAR_022876 rs9268384	36	Y>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs759374091	36	Y>R		No	gnomAD
rs9268384	36	Y>Y		No	1000Genomes ESP ExAC TOPMed gnomAD
CA363563255 rs1282310847	37	I>N		No	gnomAD ClinGen
CA363563235 rs1341879452	39	R>G		No	gnomAD ClinGen
CA3741117 rs762306607	39	R>T		No	ExAC gnomAD ClinGen
rs140156094 CA3741116	41	S>N		No	1000Genomes ESP ExAC gnomAD ClinGen
rs1562203744 CA363563150	44	Q>H		No	Ensembl ClinGen
CA363562688 rs1445127873	45	S>N		No	gnomAD ClinGen
rs763106124 CA3741092	47	R>K		No	ExAC gnomAD ClinGen
rs1441103733 CA363562613	51	Y>C		No	ClinGen TOPMed
CA3741091 rs752927580	53	D>N		No	ExAC TOPMed gnomAD ClinGen
CA3741090 rs765348990	54	G>C		No	ExAC TOPMed gnomAD ClinGen
CA363562559 rs1472708545	55	R>T		No	TOPMed ClinGen
rs776303760 CA3741056	58	R>*		No	ExAC TOPMed gnomAD ClinGen
rs758177993 CA3741055	58	R>Q		No	ClinGen ExAC gnomAD
CA363562229 rs1417195601	59	H>R		No	TOPMed ClinGen
CA363562051 rs1562197328	67	T>S		No	Ensembl ClinGen
CA3741047 rs9268368 VAR_022877	69	Y>C		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1211513247 CA363562025	69	Y>H		No	TOPMed ClinGen
rs1211513247	69	Y>R		No	TOPMed
rs9268368	69	Y>Y		No	1000Genomes ESP ExAC TOPMed gnomAD
CA3741046 rs147081172	72	R>*		No	ESP ExAC TOPMed gnomAD ClinGen
CA3741043 rs369437685	72	R>L		No	ESP ExAC TOPMed gnomAD ClinGen
CA3741044 rs369437685	72	R>Q		No	ESP ExAC TOPMed gnomAD ClinGen
CA363560430 rs1475018242	75	S>P		No	gnomAD ClinGen
rs1185139354 CA363560408	78	D>Y		No	gnomAD ClinGen
rs1262190853 CA363560393	80	T>A		No	ClinGen gnomAD
rs1414015476 CA363560376	81	P>A		No	ClinGen TOPMed
CA363560371 rs1562173286	82	S>T		No	Ensembl ClinGen
CA3740983 rs771174289	83	T>A		No	ClinGen ExAC gnomAD
CA3740982 rs747157454	84	N>S		No	ClinGen ExAC gnomAD
CA3740981 rs777935726	85	S>C		No	ClinGen ExAC TOPMed gnomAD
rs141768642 CA3740980	86	L>V		No	ESP ExAC gnomAD ClinGen
rs914087248 CA136942241	88	S>F		No	Ensembl ClinGen
CA363560310 rs1375405862	90	A>S		No	gnomAD ClinGen
CA3740953 rs79044345	100	L>F		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs780971301 CA136942240	101	I>L		No	ExAC TOPMed gnomAD ClinGen
rs780971301 CA3740952	101	I>V		No	ExAC TOPMed gnomAD ClinGen
rs756915643 CA3740951	102	L>V		No	ExAC TOPMed gnomAD ClinGen
rs757952280 CA3740948	103	L>P		No	ExAC gnomAD ClinGen
rs1241488438 CA363560218	105	M>L		No	gnomAD ClinGen
CA363560195 rs1204526210	107	F>L		No	gnomAD ClinGen
CA363560177 rs1344455388	110	A>P		No	gnomAD ClinGen
CA363560162 rs1217346299	112	S>F		No	TOPMed ClinGen
rs752238789 CA3740946	113	R>*		No	ExAC TOPMed gnomAD ClinGen
rs765734658 CA3740945	113	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA363560148 rs1296602303	115	S>N		No	gnomAD ClinGen
rs1377968287 CA363560151	115	S>R		No	TOPMed ClinGen
rs564417647 CA136942239	116	I>T		No	TOPMed gnomAD ClinGen
rs146912123 CA3740943	117	G>R		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1048252860 CA136941381	118	S>N		No	TOPMed ClinGen
rs1244991898 CA363559926	119	I>T		No	TOPMed ClinGen
rs188574958 CA3740923	119	I>V		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1209091461 CA363559912	121	C>Y		No	gnomAD ClinGen
rs766959375 CA3740922	122	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1239280644 CA363559901	123	Q>*		No	TOPMed gnomAD ClinGen
rs750800180 CA3740920	127	E>D		No	ClinGen ExAC TOPMed
VAR_022878 CA3740919 rs1033500	128	P>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1033500	128	P>P		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1236398477 CA363559837	131	R>G		No	ClinGen gnomAD
rs748893370 CA3740888	134	G>R		No	ExAC ClinGen
rs779638374 CA3740886	135	A>T		No	ExAC gnomAD ClinGen
rs761721297 CA3740873	138	Q>H		No	ClinGen ExAC gnomAD
rs1317376956 CA363559777	138	Q>P		No	TOPMed ClinGen
rs1206527033 CA363559757	141	A>D		No	ClinGen TOPMed gnomAD
rs774009812 CA3740872	141	A>T		No	ExAC gnomAD ClinGen
CA363559755 rs1206527033	141	A>V		No	ClinGen TOPMed gnomAD
rs1336273975 CA363559742	143	I>M		No	TOPMed ClinGen
CA3740870 COSM1443613 rs748890821	144	P>S	large_intestine [Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated
CA3740853 rs139993810	145	G>R		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1362301927 CA363559699	147	T>A		No	ClinGen gnomAD
rs1291513233 CA363559695	147	T>I		No	gnomAD ClinGen
rs775321783 CA3740852	149	P>S		No	ExAC TOPMed gnomAD ClinGen
CA3740851 VAR_022879 rs1265754	150	I>F		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP
rs1265754 CA363559673	150	I>V		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs764061479 CA3740827	151	K>R		No	ExAC TOPMed gnomAD ClinGen
rs1452917849 CA363559632	153	S>C		No	TOPMed ClinGen
CA363559627 rs1467010906	154	Q>*		No	gnomAD ClinGen
rs1044536902 CA136941101	157	I>V		No	Ensembl ClinGen
CA363559568 rs1423366827	159	Q>*		No	ClinGen gnomAD
CA3740815 rs748575098	160	T>S		No	ExAC gnomAD ClinGen
rs1405802827 CA363559552	161	P>A		No	TOPMed ClinGen
VAR_033068 rs1003878 CA3740814	161	P>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP
rs1003878	161	P>P		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1405802827	161	P>V		No	TOPMed
rs768877042 CA3740813	163	P>H		No	ExAC TOPMed gnomAD ClinGen
rs768877042 CA136940791	163	P>L		No	ExAC TOPMed gnomAD ClinGen
rs1225317099 CA363559526	164	I>T		No	TOPMed ClinGen
rs1428116599 CA363559520	165	V>I		No	gnomAD ClinGen
CA363559178 rs1333219067	166	Q>*		No	gnomAD ClinGen
rs1324556384 CA363559177	166	Q>P		No	ClinGen gnomAD
rs149522773 CA136940657 COSM109844	168	P>S	skin [Cosmic]	No	gnomAD ClinGen cosmic curated
rs139932111 CA3740788	169	G>R		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1161634251 CA363559119	169	G>V		No	gnomAD ClinGen
rs1583066965 CA363559096	170	S>F		No	ClinGen Ensembl
rs1583066965	170	S>L		No	Ensembl
CA3740787 VAR_022880 rs9405090	170	S>P		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP
rs9405090	170	S>S		No	1000Genomes ESP ExAC TOPMed gnomAD
CA363559107 rs9405090	170	S>T		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA3740786 rs749631578	171	N>D		No	ClinGen ExAC TOPMed gnomAD
rs557854858 CA3740785	171	N>S		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs770043830 CA3740784	172	A>T		No	ExAC gnomAD ClinGen
CA363565101 rs1562105984	173	G>D		No	Ensembl ClinGen
CA136937831 rs965279673	174	P>Q		No	ClinGen TOPMed gnomAD
CA363565062 rs755741458	175	P>L		No	ExAC TOPMed gnomAD ClinGen
CA3740753 rs755741458	175	P>R		No	ExAC TOPMed gnomAD ClinGen
rs924497973 CA136937827	176	S>A		No	TOPMed gnomAD ClinGen
CA363565024 rs1412140327	177	A>V		No	TOPMed ClinGen
rs1422728029 CA363565005	178	P>L		No	TOPMed ClinGen
rs564091360 CA3740752	179	R>C		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs564091360 CA363564997	179	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3740750 rs780789721	179	R>H		No	ExAC ClinGen
rs751054695 CA3740748 COSM3830208	180	G>S	breast [Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated
rs73396905 CA3740701	181	P>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA363564875 rs1412109883	181	P>T		No	ClinGen gnomAD
CA363564852 rs1167574955	183	M>L		No	gnomAD ClinGen
CA363564853 rs1167574955	183	M>V		No	gnomAD ClinGen
rs1460602647 CA363564840	184	A>V		No	gnomAD ClinGen
CA363564838 rs1465921582	185	P>A		No	TOPMed ClinGen
rs747600840 CA3740699	186	I>M		No	ExAC gnomAD ClinGen
CA3740700 rs757978081	186	I>T		No	ExAC gnomAD ClinGen
CA136937745 rs187830648 COSM309755	186	I>V	lung [Cosmic]	No	1000Genomes ClinGen cosmic curated
rs529833318	189	S>L		No	1000Genomes ExAC TOPMed gnomAD
rs1374910308	190	Q>*		No	TOPMed
rs1312174438	190	Q>P		No	gnomAD
rs1027615379	191	R>I		No	TOPMed
CA3740689 rs774289694	192	T>P		No	ExAC gnomAD ClinGen
rs776442574 CA3740686	193	A>P		No	ExAC gnomAD ClinGen
CA3740687 rs776442574	193	A>T		No	ExAC gnomAD ClinGen
rs748788567 CA3740659	195	I>M		No	ExAC gnomAD ClinGen
CA363563780 rs1562062972	199	H>Q		No	ClinGen Ensembl
CA3740636 rs771249058	201	M>R		No	ClinGen ExAC gnomAD
rs1448385026 CA363563772	201	M>V		No	TOPMed ClinGen
CA3740635 rs747385443	202	D>G		No	ExAC TOPMed gnomAD ClinGen
rs751397449 CA3740625	210	T>S		No	ExAC gnomAD ClinGen
rs112790956 CA3740624	211	P>R		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs775162160 CA3740622	212	V>E		No	ExAC gnomAD ClinGen
CA3740623 rs762637395	212	V>M		No	ExAC gnomAD ClinGen
rs768920715 CA3740591	213	V>A		No	ExAC gnomAD ClinGen
CA136929884 rs1052827975	214	I>V		No	Ensembl ClinGen
rs749334137 CA3740590	216	T>A		No	ExAC gnomAD ClinGen
rs1295692131 CA363563451	217	G>D		No	gnomAD ClinGen
CA3740589 rs558302720	219	M>K		No	1000Genomes ExAC ClinGen
rs746904027 CA3740587	221	E>K		No	ExAC gnomAD ClinGen
rs1393486842 CA363563361	224	A>T		No	TOPMed gnomAD ClinGen
rs560505 CA3740583 VAR_022881	227	S>P		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs560505	227	S>S		No	1000Genomes ESP ExAC TOPMed gnomAD
CA3740584 rs560505	227	S>T		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1376497878 CA363563332	228	C>S		No	ClinGen TOPMed
CA3740581 rs138704487	229	S>F		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs918064003 CA136929839 CA363563295	232	Q>H		No	TOPMed gnomAD ClinGen
rs145900218 CA3740580	232	Q>R		No	ESP ExAC TOPMed gnomAD ClinGen
CA363563205 rs1415579396	239	T>I		No	ClinGen gnomAD
CA363563197 rs1322835992	240	A>P		No	TOPMed ClinGen
rs1386015436 CA363563180	241	R>S		No	ClinGen TOPMed
CA3740577 rs143188052	241	R>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs750981966 CA3740576	244	N>K		No	ExAC TOPMed gnomAD ClinGen
rs768002126 CA3740575	246	R>*		No	ExAC TOPMed gnomAD ClinGen
rs139286311 CA136929809	246	R>L		No	ESP ExAC gnomAD ClinGen
rs139286311 CA3740574	246	R>Q		No	ESP ExAC gnomAD ClinGen
rs774713461 CA3740573	247	E>*		No	ExAC TOPMed gnomAD ClinGen
rs763188201 CA363563052	256	D>G		No	ExAC gnomAD ClinGen
rs763188201 CA3740571	256	D>V		No	ClinGen ExAC gnomAD
CA363563047 rs1336684420	257	I>N		No	gnomAD ClinGen
rs775464273 CA3740570	257	I>V		No	ClinGen ExAC TOPMed gnomAD
CA363563037 rs1306587555	258	I>M		No	TOPMed gnomAD ClinGen
CA363563036 rs1487950555	259	F>L		No	TOPMed ClinGen
rs770035027 CA3740569	260	T>M		No	ExAC TOPMed gnomAD ClinGen
rs1435470073 CA363563014	262	S>P		No	TOPMed ClinGen
rs745928315 CA3740568	263	V>A		No	ExAC gnomAD ClinGen
CA136929806 rs938397621	265	S>Y		No	Ensembl ClinGen
CA3740567 rs4947338 VAR_056793	266	L>W		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP
rs1388553888 CA363562972	268	S>L		No	ClinGen TOPMed gnomAD
CA136929799 rs889429962	270	H>Y		No	TOPMed ClinGen
CA363562957 rs1457583406	271	I>V		No	TOPMed ClinGen
rs1454152588 CA363562936	273	E>D		No	gnomAD ClinGen
CA3740564 rs34498363 VAR_056794	274	P>S		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP
CA3740565 rs34498363	274	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA363562928 rs1455255631	275	E>A		No	ClinGen gnomAD
rs1179244101 CA363562931	275	E>K		No	ClinGen gnomAD
rs1562045072 CA363562915	277	E>Q		No	Ensembl ClinGen
CA363562890 rs1392656364	280	G>V		No	ClinGen TOPMed
rs947275416 CA136929796	282	D>H		No	TOPMed ClinGen
rs1192515863 CA363562860	285	K>E		No	gnomAD ClinGen
rs1348480542 CA363562834	288	I>L		No	TOPMed ClinGen
CA363562831 rs1562044971	288	I>T		No	ClinGen Ensembl
CA136929791 rs1016218176	289	G>R		No	Ensembl ClinGen
CA3740562 rs753563883	291	E>D		No	ExAC gnomAD ClinGen
CA3740560 rs779555362	294	V>E		No	ClinGen ExAC TOPMed gnomAD
rs1351864829 CA363562780	296	S>G		No	TOPMed gnomAD ClinGen
CA3740558 rs749934218	296	S>R		No	ClinGen ExAC gnomAD
rs755683262 CA3740559	296	S>T		No	ExAC gnomAD ClinGen
CA363562765 rs1225351124	298	A>S		No	gnomAD ClinGen
rs866939556 CA136929777	303	R>G		No	Ensembl ClinGen
rs928491415 CA136929773	305	E>G		No	TOPMed gnomAD ClinGen
CA136929774 rs934519480	305	E>K		No	ClinGen TOPMed gnomAD
CA363562706 rs1489686955	307	Q>*		No	TOPMed ClinGen
CA363562691 rs1440315678	308	L>R		No	gnomAD ClinGen
rs762252379 CA3740556	311	S>I		No	ExAC gnomAD ClinGen
CA363562630 rs1320237199	312	E>D		No	gnomAD ClinGen
rs151122056 CA3740555	313	M>I		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs564447553 CA3740554	314	S>R		No	1000Genomes ExAC gnomAD ClinGen
rs775838297 CA3740552	315	I>T		No	ClinGen ExAC TOPMed gnomAD
CA3740553 rs3749966 VAR_022882	315	I>V		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP
CA3740550 rs530604728	319	Q>H		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs148937489 CA3740551	319	Q>R		No	ESP ExAC gnomAD ClinGen
rs1562044639 CA363562518	320	G>A		No	Ensembl ClinGen
rs747984647 CA3740549	321	A>S		No	ClinGen ExAC gnomAD
rs868769441 CA136929761	323	I>V		No	ClinGen Ensembl
CA3740547 rs772155625	325	K>R		No	ExAC gnomAD ClinGen
rs748076073 CA363562461	327	V>L		No	ClinGen ExAC TOPMed gnomAD
CA3740546 rs748076073	327	V>M		No	ExAC TOPMed gnomAD ClinGen
CA3740545 rs774120324	330	V>I		No	ExAC gnomAD ClinGen
CA363562436 rs774120324	330	V>L		No	ClinGen ExAC gnomAD
CA136929742 rs780930636	331	P>R		No	Ensembl ClinGen
rs749027279 CA3740543	332	R>K		No	ClinGen ExAC TOPMed gnomAD
rs563184862 CA3740542	333	G>R		No	ClinGen 1000Genomes ExAC
CA363562364 rs755699475	334	Q>H		No	ClinGen ExAC gnomAD
rs745399589 CA3740540	335	E>K		No	ClinGen ExAC gnomAD
rs757738275 CA3740538	336	S>A		No	ExAC ClinGen
CA3740536 rs764486432	337	Q>*		No	ClinGen ExAC gnomAD
CA136929710 rs866361411	339	K>E		No	Ensembl ClinGen
rs371233809 CA3740533	339	K>N		No	ESP ExAC TOPMed gnomAD ClinGen
CA3740535 rs758863964	339	K>R		No	ClinGen ExAC gnomAD
rs1325831011 CA363562258	341	S>R		No	ClinGen gnomAD
rs997615836 CA363562252	342	E>K		No	ClinGen TOPMed
CA136929707 rs997615836	342	E>Q		No	TOPMed ClinGen
rs892577560 CA3740531	343	S>*		No	TOPMed ClinGen
rs1377854117 CA363562220	344	G>D		No	TOPMed ClinGen
rs376834294 CA3740530	344	G>R		No	ESP ExAC TOPMed gnomAD ClinGen
rs867579325 CA136929696 COSM1718260	346	P>S	NS [Cosmic]	No	ClinGen cosmic curated Ensembl
rs776878975 CA3740529	349	Q>*		No	ExAC gnomAD ClinGen
CA3740528 rs766604573	350	E>*		No	ClinGen ExAC TOPMed gnomAD
rs1412333557 CA363562129	351	A>P		No	gnomAD ClinGen
rs1412333557 CA363562131	351	A>T		No	gnomAD ClinGen
rs768324713 CA136929681	354	T>K		No	TOPMed ClinGen
rs768324713 CA363562086 COSM272065	354	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1168050005 CA363562083	355	K>E		No	ClinGen gnomAD
CA3740526 rs774401145	355	K>N		No	ClinGen ExAC gnomAD
CA363562044 rs1423597711	357	G>E		No	gnomAD ClinGen
rs866952150 CA136929672	358	L>S		No	Ensembl ClinGen
rs373631463 CA136929671	366	A>V		No	ESP TOPMed ClinGen
rs961566088 CA136929660	367	Q>*		No	TOPMed ClinGen
rs1020223737 CA136929657	371	S>N		No	TOPMed ClinGen
rs574400346 CA3740524	373	M>T		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA3740525 rs369976372	373	M>V		No	ESP ExAC TOPMed gnomAD ClinGen
rs377471914 CA3740523	374	G>D		No	ClinGen ESP ExAC gnomAD
CA136929654 rs889543234	376	P>L		No	ClinGen TOPMed
rs769459897 CA3740522	378	R>G		No	ExAC gnomAD ClinGen
rs1215279441 CA363561858	378	R>I		No	TOPMed gnomAD ClinGen
CA136929653 rs878930594	380	E>D		No	Ensembl ClinGen
CA136929650 rs948268069	383	V>A		No	TOPMed ClinGen
CA3740520 rs745483322	384	K>E		No	ExAC gnomAD ClinGen
rs756842414 CA3740518	386	S>C		No	ExAC gnomAD ClinGen
rs61995678 CA3740517	387	Q>E		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs778347240 CA3740516	390	V>D		No	ExAC gnomAD ClinGen
rs868112596 CA136929637	391	S>P		No	ClinGen Ensembl
CA136929629 rs758772509	393	G>A		No	ExAC gnomAD ClinGen
CA3740515 rs758772509	393	G>E		No	ExAC gnomAD ClinGen
CA3740514 rs753132868	395	E>G		No	ExAC TOPMed gnomAD ClinGen
rs879187439 CA136929607	399	K>T		No	ClinGen Ensembl
rs7775397 CA3740512 VAR_022883	400	K>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3740511 rs754158669	400	K>R		No	ClinGen ExAC gnomAD
CA363561708 rs766493361	401	R>K		No	ExAC TOPMed gnomAD ClinGen
CA3740510 rs766493361	401	R>T		No	ExAC TOPMed gnomAD ClinGen
CA3740508 rs576799487	403	S>*		No	ClinGen 1000Genomes ExAC gnomAD
CA136929583 rs576799487	403	S>L		No	1000Genomes ExAC gnomAD ClinGen
rs1457377507 CA363561688	404	V>A		No	gnomAD ClinGen
CA363561659 rs1215628089	409	Q>*		No	gnomAD ClinGen
rs1215628089 CA363561661	409	Q>E		No	ClinGen gnomAD
CA363561625 rs1335453271	414	E>K		No	ClinGen gnomAD
rs1401049742 CA363561612	415	K>R		No	gnomAD ClinGen
rs1292573913 CA363561599	417	E>*		No	gnomAD ClinGen
rs200035199 CA3740507	417	E>A		No	ExAC TOPMed gnomAD ClinGen
rs769619992 CA3740504	420	V>G		No	ClinGen ExAC gnomAD
CA3740505 rs775296133	420	V>L		No	ExAC gnomAD ClinGen
CA136929566 rs971825814	422	K>E		No	Ensembl ClinGen
CA136929565 rs999216193	423	G>R		No	ClinGen TOPMed
CA363561554 rs1230995763	424	Q>R		No	ClinGen TOPMed
rs868105967 CA136929564	426	G>C		No	Ensembl ClinGen
CA363561537 rs1327416397	426	G>V		No	gnomAD ClinGen
rs1312117631 CA363561524	428	V>G		No	TOPMed ClinGen
CA3740502 rs139915493	428	V>I		No	ESP ExAC TOPMed gnomAD ClinGen
rs776324872 COSM1312054 CA3740501	430	K>N	urinary_tract [Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated
CA3740500 rs114543649	431	T>S		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1562043126 CA363561491	433	A>E		No	Ensembl ClinGen
rs16870005 VAR_056795 CA3740499	433	A>T		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP
CA3740496 rs779538183	435	V>A		No	ExAC TOPMed gnomAD ClinGen
CA3740495 rs779538183	435	V>E		No	ExAC TOPMed gnomAD ClinGen
CA3740497 rs772663914	435	V>M		No	ExAC TOPMed gnomAD ClinGen
rs866169577 CA136929525	436	P>S		No	Ensembl ClinGen
CA3740493 rs754246920	441	V>A		No	ExAC TOPMed gnomAD ClinGen
CA363561439 rs754246920	441	V>G		No	ExAC TOPMed gnomAD ClinGen
rs756235128 CA3740491	445	K>R		No	ClinGen ExAC TOPMed gnomAD
CA363561403 rs1412675033	446	S>N		No	ClinGen TOPMed
rs1046764401 CA136929520	448	A>G		No	Ensembl ClinGen
rs907166056 CA363561389	448	A>P		No	TOPMed ClinGen
rs907166056 CA136929521	448	A>T		No	TOPMed ClinGen
rs150802480 CA3740489	449	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1239156360 CA363561379	450	V>I		No	ClinGen gnomAD
CA3740486 rs752680576	454	P>L		No	ExAC TOPMed gnomAD ClinGen
rs1456213628 CA363561354	454	P>S		No	ClinGen TOPMed
rs141143249 CA3740485	457	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs972989785 CA136929515	459	K>E		No	TOPMed ClinGen
rs1562042829 CA363561311	460	N>K		No	Ensembl ClinGen
rs759329369 CA3740484	461	T>I		No	ExAC gnomAD ClinGen
rs140326264 CA3740483 CA363561298	462	E>D		No	ESP ExAC TOPMed gnomAD ClinGen
CA3740481 rs373310192	463	V>L		No	ESP ExAC TOPMed gnomAD ClinGen
CA3740482 rs373310192	463	V>M		No	ESP ExAC TOPMed gnomAD ClinGen
CA363561285 rs1282493533	465	V>I		No	ClinGen gnomAD
rs1378742819 CA363561277	466	P>S		No	gnomAD ClinGen
CA363561257 rs1303995938	469	L>Q		No	TOPMed ClinGen
CA363561241 rs1175717782	471	S>F		No	gnomAD ClinGen
rs747644089 CA3740476	474	K>N		No	ExAC gnomAD ClinGen
rs779627968 CA3740475	477	E>D		No	ExAC gnomAD ClinGen
rs769222147 CA3740474	478	S>P		No	ClinGen ExAC gnomAD
CA136929465 rs7751028	479	G>A		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA3740473 rs7751028	479	G>D		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
VAR_056796 rs7751028 CA3740472	479	G>V		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP
CA3740471 rs138014883	481	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA363561179 rs138014883	481	L>R		No	ESP ExAC TOPMed gnomAD ClinGen
CA363561146 rs1234488834	486	A>T		No	gnomAD ClinGen
CA363561142 rs1562042504	487	Q>K		No	Ensembl ClinGen
CA136929460 rs557589472	489	K>E		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA3740469 rs557589472	489	K>Q		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA363561116 rs1298642611	490	K>R		No	ClinGen gnomAD
rs1582945354 CA363561103	492	S>G		No	Ensembl ClinGen
CA363561094 rs1364759723	493	F>V		No	ClinGen gnomAD
rs1299310385 CA363561083	494	E>V		No	gnomAD ClinGen
CA3740467 rs757387436	495	D>G		No	ExAC TOPMed gnomAD ClinGen
CA3740466 rs751635624	498	N>S		No	ClinGen ExAC TOPMed gnomAD
CA3740465 rs765172230	500	D>H		No	ClinGen ExAC TOPMed gnomAD
CA3740464 rs759418877	502	E>K		No	ExAC gnomAD ClinGen
CA363561012 rs1562042297	504	E>K		No	Ensembl ClinGen
CA363561006 rs1471979998	505	R>G		No	TOPMed ClinGen
CA3740462 rs753697939	505	R>K		No	ExAC TOPMed gnomAD ClinGen
CA363561004 rs753697939	505	R>T		No	ExAC TOPMed gnomAD ClinGen
rs766126891 CA3740461	506	D>G		No	ExAC gnomAD ClinGen
rs968026247 CA136929427	510	D>Y		No	Ensembl ClinGen
rs1259270429 CA363560961	511	P>Q		No	gnomAD ClinGen
rs554507825 CA3740460	512	N>K		No	1000Genomes ExAC gnomAD ClinGen
rs754285769 CA136929416	512	N>T		No	Ensembl ClinGen
CA3740459 COSM1077855 rs772793505	515	E>K	endometrium [Cosmic]	No	ExAC gnomAD ClinGen cosmic curated
rs767272086 CA3740458	517	G>D		No	ExAC gnomAD ClinGen
CA363560920 rs1400903047	517	G>R		No	ClinGen TOPMed
CA3740456 rs773943810	520	N>T		No	ExAC gnomAD ClinGen
rs769311941 CA3740455	522	K>Q		No	ExAC TOPMed gnomAD ClinGen
rs1396963330 CA363560870	524	D>G		No	ClinGen gnomAD
CA363560856 rs1346728648	526	G>*		No	gnomAD ClinGen
CA363560854 rs1401832482	526	G>A		No	gnomAD ClinGen
CA136929358 rs1023557423	527	K>E		No	Ensembl ClinGen
rs1301289558 CA363560837	529	K>E		No	gnomAD ClinGen
CA363560811 rs1434701006	532	G>E		No	TOPMed ClinGen
rs1463607612 CA363560815	532	G>R		No	gnomAD ClinGen
CA3740454 rs749776185	534	R>G		No	ExAC TOPMed gnomAD ClinGen
rs1355126642 CA363560799	534	R>T		No	gnomAD ClinGen
rs776036093 CA3740453	538	I>N		No	ExAC TOPMed gnomAD ClinGen
rs568787106 CA3740452	539	N>S		No	ClinGen 1000Genomes ExAC gnomAD
COSM173314 CA3740451 rs746232383	546	S>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA3740449 rs149618593	548	R>K		No	ESP ExAC TOPMed gnomAD ClinGen
COSM271010 rs941718641 CA136929305	549	A>V	large_intestine [Cosmic]	No	TOPMed ClinGen cosmic curated
rs1223410397 CA363560670	550	K>E		No	TOPMed ClinGen
CA363560603 rs1316660257	557	Y>*		No	TOPMed gnomAD ClinGen
CA363560609 rs1562041646	557	Y>N		No	Ensembl ClinGen
CA363560594 rs907133107	558	N>K		No	TOPMed gnomAD ClinGen
rs1179451950 CA363560579	560	K>I		No	TOPMed ClinGen
rs546948582 CA363560554	563	E>A		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs546948582 CA3740446	563	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1045550568 CA136929283	563	E>K		No	ClinGen TOPMed

No associated diseases with Q5SRN2

No regional properties for Q5SRN2

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q5SRN2

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

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.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

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
MTVLEITLAV	ILTLLGLAIL	AILLTRWARC	KQSEMYISRY	SSEQSARLLD	YEDGRGSRHA
70	80	90	100	110	120
YSTQSDTSYD	NRERSKRDYT	PSTNSLVSMA	SKFSLGQTEL	ILLLMCFILA	LSRSSIGSIK
130	140	150	160	170	180
CLQTTEEPPS	RTAGAMMQFT	APIPGATGPI	KLSQKTIVQT	PGPIVQYPGS	NAGPPSAPRG
190	200	210	220	230	240
PPMAPIIISQ	RTARIPQVHT	MDSSGKITLT	PVVILTGYMD	EELAKKSCSK	IQILKCGGTA
250	260	270	280	290	300
RSQNSREENK	EALKNDIIFT	NSVESLKSAH	IKEPEREGKG	TDLEKDKIGM	EVKVDSDAGI
310	320	330	340	350	360
PKRQETQLKI	SEMSIPQGQG	AQIKKSVSDV	PRGQESQVKK	SESGVPKGQE	AQVTKSGLVV
370	380	390	400	410	420
LKGQEAQVEK	SEMGVPRRQE	SQVKKSQSGV	SKGQEAQVKK	RESVVLKGQE	AQVEKSELKV
430	440	450	460	470	480
PKGQEGQVEK	TEADVPKEQE	VQEKKSEAGV	LKGPESQVKN	TEVSVPETLE	SQVKKSESGV
490	500	510	520	530	540
LKGQEAQEKK	ESFEDKGNND	KEKERDAEKD	PNKKEKGDKN	TKGDKGKDKV	KGKRESEING
550	560
EKSKGSKRAK	ANTGRKYNKK	VEE