AiPD: Autoinhibited Protein Database

Q9BXT2

Gene name	CACNG6
Protein name	Voltage-dependent calcium channel gamma-6 subunit
Names	Neuronal voltage-gated calcium channel gamma-6 subunit
Species	Homo sapiens (Human)
KEGG Pathway	hsa:59285
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-58 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-58 (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 Q9BXT2

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9BXT2-F1	Predicted				AlphaFoldDB

248 variants for Q9BXT2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA9641282 rs747728201	2	M>T		No	ClinGen ExAC gnomAD
CA407421667 rs1180425373	3	W>G		No	ClinGen TOPMed
CA9641283 rs771562119	3	W>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	3	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9641284 rs771562119	3	W>S		No	ClinGen ExAC TOPMed gnomAD
CA407421672 rs1418137187	4	S>P		No	ClinGen gnomAD
CA407421697 rs1568809492	7	F>Y		No	ClinGen Ensembl
rs759591468 CA9641288	9	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA9641287 rs776676191	9	Q>R		No	ClinGen ExAC gnomAD
rs1464722443 CA407421719	10	E>D		No	ClinGen gnomAD
rs1177207677 CA407421713	10	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1265538561 CA407421735	12	N>K		No	ClinGen TOPMed
CA407421738 rs1434492187	13	R>Q		No	ClinGen gnomAD
rs765284445 CA9641291	13	R>W		No	ClinGen ExAC gnomAD
rs775391041 CA9641293	14	R>W		No	ClinGen ExAC TOPMed gnomAD
rs904562967 CA310074647	15	R>L		No	ClinGen TOPMed
CA407421748 rs904562967	15	R>P		No	ClinGen TOPMed
TCGA novel	16	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs567490160 CA310074656	16	G>R		No	ClinGen 1000Genomes
rs763098225 CA9641295	17	A>T		No	ClinGen ExAC gnomAD
CA407421759 rs1310285013	18	A>T		No	ClinGen gnomAD
TCGA novel	18	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA407421771 rs1381311270	20	R>G		No	ClinGen gnomAD
COSM1283905 rs1437887891 CA407421773	20	R>Q	autonomic_ganglia Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs975999615 CA310074660	21	R>W		No	ClinGen TOPMed
rs534917640 CA9641299	22	R>L	Variant assessed as Somatic; 0.0002636 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA9641298 rs751864902	22	R>W		No	ClinGen ExAC gnomAD
CA407421785 rs1254383125	23	A>P		No	ClinGen TOPMed gnomAD
CA407421783 rs1254383125	23	A>T		No	ClinGen TOPMed gnomAD
CA310074665 rs756574726	24	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs750808856 CA9641301	24	H>R		No	ClinGen ExAC
CA9641303 CA9641304 rs780619316	25	G>R		No	ClinGen ExAC TOPMed gnomAD
rs571070238 CA310074681	26	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
rs1324469035 CA407421827	30	G>W		No	ClinGen gnomAD
CA407421831 rs1600050818	31	L>M		No	ClinGen Ensembl
rs1202803677 CA407421841	32	T>M		No	ClinGen gnomAD
CA9641306 rs377123441	33	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1456951506 CA407421847	34	E>K		No	ClinGen gnomAD
CA407421857 rs1157004921	35	R>C		No	ClinGen gnomAD
rs1157004921 CA407421855	35	R>S		No	ClinGen gnomAD
CA310074690 rs1036759489	36	E>D		No	ClinGen TOPMed gnomAD
rs1292870872 CA407421868	37	G>R		No	ClinGen gnomAD
rs1274648976 CA407421881	38	K>N		No	ClinGen TOPMed
CA407421903 rs1466236183	42	A>T		No	ClinGen TOPMed gnomAD
CA9641307 rs746712453	42	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA407421920 rs1288550635	45	L>P		No	ClinGen gnomAD
rs1274494247 CA407421930	47	A>V		No	ClinGen gnomAD
rs1300073085 CA407421938	48	V>G		No	ClinGen TOPMed
CA407421935 rs1334992717	48	V>M		No	ClinGen TOPMed gnomAD
rs1420256309 CA407421952	51	T>A		No	ClinGen TOPMed
rs1374712691 CA407421955	51	T>R		No	ClinGen TOPMed
CA9641309 rs776514934	54	V>L		No	ClinGen ExAC gnomAD
rs776514934 CA407421968	54	V>M		No	ClinGen ExAC gnomAD
rs970294628 CA310074739	57	V>A		No	ClinGen TOPMed gnomAD
TCGA novel	57	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1179287231 CA407422000	59	T>I		No	ClinGen gnomAD
CA407422011 rs1253047443	61	F>V		No	ClinGen gnomAD
CA310074744 rs984405608	62	W>*		No	ClinGen TOPMed gnomAD
CA407422024 rs984405608	62	W>C		No	ClinGen TOPMed gnomAD
rs1472378497 CA407422018	62	W>R		No	ClinGen gnomAD
rs745685098 CA9641310	65	L>P		No	ClinGen ExAC
CA310074765 rs963016013	67	T>I		No	ClinGen gnomAD
CA407422061 rs1348088785	68	Y>C		No	ClinGen TOPMed gnomAD
CA407422081 rs1349709376	71	N>D		No	ClinGen gnomAD
CA407422089 rs1256925959	72	G>D		No	ClinGen TOPMed
CA310074766 rs971738195	72	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA407422102 rs1310006128	74	A>S		No	ClinGen gnomAD
CA407422100 rs1310006128	74	A>T		No	ClinGen gnomAD
CA407422105 rs1280189517	74	A>V		No	ClinGen TOPMed
rs905402727 CA310074772	75	V>L		No	ClinGen TOPMed gnomAD
rs905402727 CA407422106	75	V>M		No	ClinGen TOPMed gnomAD
CA407422114 rs1275790837	76	C>Y		No	ClinGen TOPMed gnomAD
TCGA novel	77	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1482934316 CA407422119	77	E>K		No	ClinGen gnomAD
CA407422127 rs1203211487	78	A>T		No	ClinGen gnomAD
rs933088105 CA310074788	79	A>D		No	ClinGen Ensembl
CA310074792 rs372908944	80	H>Y		No	ClinGen ESP TOPMed gnomAD
rs1326306974 CA407422153	82	G>V		No	ClinGen TOPMed gnomAD
rs1169218943 CA407422167	84	W>*		No	ClinGen gnomAD
CA310074835 rs1052032776	85	K>*		No	ClinGen gnomAD
CA407422170 rs1052032776	85	K>E		No	ClinGen gnomAD
rs1052032776 CA310074829	85	K>Q		No	ClinGen gnomAD
rs1600051315 CA407422186	87	C>F		No	ClinGen Ensembl
TCGA novel	87	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9641314 rs375730739	88	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1281908574 CA407422199	89	K>M		No	ClinGen gnomAD
CA407422195 rs1446897796	89	K>Q		No	ClinGen gnomAD
CA310074862 rs1042979812	90	R>L		No	ClinGen TOPMed gnomAD
CA407422206 rs1042979812	90	R>P		No	ClinGen TOPMed gnomAD
CA407422205 rs1042979812	90	R>Q		No	ClinGen TOPMed gnomAD
CA407422204 rs1363538160	90	R>W		No	ClinGen gnomAD
CA407422218 rs1444598359	92	W>*		No	ClinGen TOPMed
rs761974235 CA9641316	94	A>G		No	ClinGen ExAC TOPMed gnomAD
CA407422233 rs761974235 COSM221864	94	A>V	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1341832801 CA407422238	95	D>G		No	ClinGen gnomAD
rs1198345312 CA407422236	95	D>Y		No	ClinGen TOPMed
CA310074892 rs1020387029	98	V>A		No	ClinGen TOPMed
CA407422254 rs1600051429	98	V>M		No	ClinGen Ensembl
rs967029106 CA310074893	102	T>I		No	ClinGen TOPMed
rs1281222791 CA407422293	103	C>W		No	ClinGen gnomAD
rs1600051480 CA407422305	105	P>R		No	ClinGen Ensembl
rs1443198325 CA407422303 COSM1199394	105	P>S	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
TCGA novel	106	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA407422309 rs1235805731	106	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA310074895 rs998781294	106	A>V		No	ClinGen gnomAD
rs1568810143 CA407422315	107	E>A		No	ClinGen Ensembl
rs1053131701 CA310074902	108	L>P		No	ClinGen Ensembl
CA407422325 rs1189072721	109	P>S		No	ClinGen gnomAD
rs1334868409 CA407422366	113	N>D		No	ClinGen TOPMed
CA407422391 rs1159450845	116	Y>C		No	ClinGen TOPMed gnomAD
CA9641334 rs772227869	118	K>N		No	ClinGen ExAC TOPMed gnomAD
CA407422416 rs1281697505 COSM170920	119	F>L	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA407422436 rs773485518	122	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9641335 rs773485518	122	T>R		No	ClinGen ExAC TOPMed gnomAD
rs1324105128 CA407422440	123	G>E		No	ClinGen TOPMed
CA407422443 rs1267579555	124	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs111762316 CA310079087	126	A>E		No	ClinGen TOPMed
COSM2157068 CA9641337 rs78495589	127	R>C	central_nervous_system [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs113933127 CA9641339	127	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs78495589 CA9641338	127	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA407422494 rs1450779483 COSM1000948	131	R>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs765689814 CA9641340	133	T>A		No	ClinGen ExAC TOPMed gnomAD
rs751043752 CA9641342	134	K>E		No	ClinGen ExAC TOPMed gnomAD
rs756840959 CA9641343	135	K>N		No	ClinGen ExAC gnomAD
rs1278714201 CA407422686	137	V>L		No	ClinGen TOPMed
CA407422709 rs1430827048	139	L>R		No	ClinGen gnomAD
CA310080102 rs1008631687	140	A>V		No	ClinGen Ensembl
CA407422724 rs149636959	142	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA9641364 rs149636959 COSM1612759	142	A>V	liver [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
TCGA novel	143	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9641366 rs562607079	146	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1242438641 CA407422757	148	G>C		No	ClinGen gnomAD
rs748127619 CA9641368	148	G>D		No	ClinGen ExAC gnomAD
CA310080160 rs1000047377	149	L>P		No	ClinGen Ensembl
CA9641369 rs758453533	150	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1484017391 CA407422780	152	M>R		No	ClinGen gnomAD
CA9641370 rs777776975	153	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1392597613 CA407422824	156	C>*		No	ClinGen gnomAD
rs1440209352 CA407422818	156	C>S		No	ClinGen gnomAD
rs771115010 CA9641372	157	L>F		No	ClinGen ExAC gnomAD
rs776728706 CA9641373	158	C>R		No	ClinGen ExAC gnomAD
CA407422834 rs202066966	158	C>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9641374 rs202066966	158	C>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs770346942 CA9641375	159	I>V		No	ClinGen ExAC gnomAD
rs1475086965 CA407422869	162	V>M		No	ClinGen TOPMed
rs61737876 CA407422879	163	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA9641376 rs61737876	163	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	168	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA407422990 rs141391745	172	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA9641378 rs141391745	172	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA9641379 rs764730263	172	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9641381 rs772783786	175	A>D		No	ClinGen ExAC gnomAD
CA310080221 rs867455460	175	A>T		No	ClinGen Ensembl
rs147457475 CA9641384	176	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM301862 rs147457475 CA9641383	176	V>I	Variant assessed as Somatic; 0.0 impact. central_nervous_system endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1342208430 CA407423037	177	C>S		No	ClinGen gnomAD
rs754774879 CA9641385	177	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA407424941 rs1221613153	184	L>V		No	ClinGen gnomAD
rs1223020993 CA407424957	186	L>F		No	ClinGen TOPMed gnomAD
CA9641413 rs780438713	187	V>A		No	ClinGen ExAC gnomAD
rs1265224129 CA407424960	187	V>L		No	ClinGen gnomAD
CA310086905 rs899129997	188	S>T		No	ClinGen Ensembl
CA9641414 rs749657710	189	L>R		No	ClinGen ExAC gnomAD
CA407424971 rs1252850018	189	L>V		No	ClinGen gnomAD
rs769213773 CA9641415	190	E>Q		No	ClinGen ExAC gnomAD
rs139947484 CA9641418	193	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA310086920 rs139947484	193	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1308221230 CA407425016	196	V>E		No	ClinGen TOPMed gnomAD
rs1431426229 CA407425013	196	V>L		No	ClinGen gnomAD
CA407425020 rs775961001	197	R>K		No	ClinGen ExAC TOPMed gnomAD
CA9641420 rs775961001	197	R>T		No	ClinGen ExAC TOPMed gnomAD
rs374782267 CA9641421 COSM1000949	198	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA9641422 rs769376031	198	A>V		No	ClinGen ExAC TOPMed gnomAD
CA407425037 rs1357690026	200	L>R		No	ClinGen gnomAD
CA407425034 rs1314992037	200	L>V		No	ClinGen gnomAD
CA407425050 rs1482841848	202	R>I		No	ClinGen gnomAD
rs775178620 CA9641424	202	R>S		No	ClinGen ExAC gnomAD
TCGA novel	202	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763833590 CA9641426	204	S>T		No	ClinGen ExAC TOPMed gnomAD
CA310086957 rs751492357	205	P>L		No	ClinGen ExAC TOPMed gnomAD
rs751492357 CA9641427	205	P>R		No	ClinGen ExAC TOPMed gnomAD
CA407425113 rs761605328	207	P>S		No	ClinGen ExAC gnomAD
rs761605328 CA9641428	207	P>T		No	ClinGen ExAC gnomAD
CA9641430 rs767495494	208	P>L		No	ClinGen ExAC gnomAD
CA407425126 rs1303401046	208	P>S		No	ClinGen TOPMed
rs369729281 CA9641431	209	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs369729281 CA9641432	209	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs745648688	209	P>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA407425137 rs1177798062	209	P>S		No	ClinGen TOPMed gnomAD
CA310086975 rs576293186	210	A>T		No	ClinGen Ensembl
CA407425153 rs1334167657	210	A>V		No	ClinGen gnomAD
rs201389291 CA9641435	212	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA407425179 rs1339141094	212	R>L		No	ClinGen TOPMed gnomAD
CA407425177 rs1339141094	212	R>P		No	ClinGen TOPMed gnomAD
rs201389291 CA407425170	212	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1256633844 CA407425205	214	T>S		No	ClinGen TOPMed
CA310087012 rs936337599 CA407425219	215	Y>*		No	ClinGen TOPMed gnomAD
rs369577894 CA9641437	215	Y>C		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs369577894 CA310087002	215	Y>S		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs758762265 CA9641438	216	E>K		No	ClinGen ExAC gnomAD
rs145464848 CA9641439	217	Y>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	217	Y>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA407425270 rs988571477	218	S>F		No	ClinGen TOPMed
CA310087018 rs913639979	218	S>P		No	ClinGen Ensembl
CA310087038 rs988571477	218	S>Y		No	ClinGen TOPMed
TCGA novel	220	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA407425352 rs199614002	223	C>*		No	ClinGen ExAC TOPMed gnomAD
CA407425339 rs1242844088	223	C>S		No	ClinGen TOPMed
CA407425354 rs199614002	223	C>W		No	ClinGen ExAC TOPMed gnomAD
CA9641442 rs775091115	224	G>R		No	ClinGen ExAC TOPMed gnomAD
CA9641443 rs775091115	224	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA310087064 rs200480751	225	V>A		No	ClinGen 1000Genomes TOPMed gnomAD
rs949111352 CA310087056	225	V>M		No	ClinGen Ensembl
TCGA novel rs773976957 CA9641446	226	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC TOPMed gnomAD NCI-TCGA
rs761682241 CA9641447	227	A>S		No	ClinGen ExAC TOPMed gnomAD
CA407425384 rs761682241	227	A>T		No	ClinGen ExAC TOPMed gnomAD
CA9641449 rs773351063	228	G>C		No	ClinGen ExAC gnomAD
rs1462726750 CA407425423	230	I>T		No	ClinGen gnomAD
CA9641451 rs766617187	231	L>P		No	ClinGen ExAC gnomAD
TCGA novel	232	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9641453 rs755120014	234	G>R		No	ClinGen ExAC TOPMed gnomAD
CA310087073 rs376472409	235	A>T		No	ClinGen gnomAD
rs1209217743 CA407425482	236	G>R		No	ClinGen gnomAD
CA407425499 rs1283507653	237	C>Y		No	ClinGen gnomAD
CA9641454 rs765496615	240	L>Q		No	ClinGen ExAC gnomAD
CA9641455 rs752943229	241	L>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	242	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA407425623 rs778136049	243	L>P		No	ClinGen ExAC TOPMed gnomAD
CA9641457 rs778136049	243	L>R		No	ClinGen ExAC TOPMed gnomAD
rs1208348484 CA407425633	244	P>A		No	ClinGen TOPMed
CA310087090 rs866833754	244	P>L		No	ClinGen Ensembl
CA407425670 rs755597457	245	S>C		No	ClinGen ExAC gnomAD
CA9641459 rs755597457	245	S>Y		No	ClinGen ExAC gnomAD
CA9641460 rs61738518	247	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1325932310 CA407425725	248	W>G		No	ClinGen gnomAD
CA9641462 rs768136238	250	S>F		No	ClinGen ExAC gnomAD
rs12980121 VAR_061540 CA9641463	252	C>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM1526191 CA9641464 rs747892500	254	K>R	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA9641465 rs148905506	255	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1351452611 CA407425850	255	R>W		No	ClinGen TOPMed
CA9641467 rs760644366 CA407425865	256	G>R		No	ClinGen ExAC gnomAD
CA407425891 rs1490128018	257	H>R		No	ClinGen gnomAD
TCGA novel	257	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9641469 rs776788761	258	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1219732417 CA407425903	258	R>W	Variant assessed as Somatic; 7.343e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA9641470 rs200238789	259	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9641471 rs200238789	259	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370862252 COSM1582427 CA9641472	260	T>N	stomach [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD

No associated diseases with Q9BXT2

3 regional properties for Q9BXT2

Type	Name	Position	InterPro Accession
conserved_site	Terpene synthase, conserved site	611 - 625	IPR002365
domain	Squalene cyclase, C-terminal	421 - 758	IPR032696
domain	Squalene cyclase, N-terminal	107 - 386	IPR032697

Functions

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

3 GO annotations of cellular component

Name	Definition
L-type voltage-gated calcium channel complex	A type of voltage-dependent calcium channel responsible for excitation-contraction coupling of skeletal, smooth, and cardiac muscle. 'L' stands for 'long-lasting' referring to the length of activation.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
voltage-gated calcium channel complex	A protein complex that forms a transmembrane channel through which calcium ions may pass in response to changes in membrane potential.

2 GO annotations of molecular function

Name	Definition
calcium channel regulator activity	Modulates the activity of a calcium channel.
voltage-gated calcium channel activity	Enables the transmembrane transfer of a calcium ion by a voltage-gated channel. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded.

2 GO annotations of biological process

Name	Definition
calcium ion transport	The directed movement of calcium (Ca) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
regulation of calcium ion transmembrane transport via high voltage-gated calcium channel	Any process that modulates the frequency, rate or extent of generation of calcium ion transmembrane transport via high voltage-gated calcium channel.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8VHW3	Cacng6	Voltage-dependent calcium channel gamma-6 subunit	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MMWSNFFLQE	ENRRRGAAGR	RRAHGQGRSG	LTPEREGKVK	LALLLAAVGA	TLAVLSVGTE
70	80	90	100	110	120
FWVELNTYKA	NGSAVCEAAH	LGLWKACTKR	LWQADVPVDR	DTCGPAELPG	EANCTYFKFF
130	140	150	160	170	180
TTGENARIFQ	RTTKKEVNLA	AAVIAVLGLA	VMALGCLCII	MVLSKGAEFL	LRVGAVCFGL
190	200	210	220	230	240
SGLLLLVSLE	VFRHSVRALL	QRVSPEPPPA	PRLTYEYSWS	LGCGVGAGLI	LLLGAGCFLL
250
LTLPSWPWGS	LCPKRGHRAT