AiPD: Autoinhibited Protein Database

Q96CX2

Gene name	KCTD12 (C13orf2, KIAA1778, PFET1)
Protein name	BTB/POZ domain-containing protein KCTD12
Names	Pfetin, Predominantly fetal expressed T1 domain
Species	Homo sapiens (Human)
KEGG Pathway	hsa:115207
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-61 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-61 (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

3 structures for Q96CX2

Entry ID	Method	Resolution	Chain	Position	Source
6M8S	X-ray	371 A	A/B/M/O/P	200-325	PDB
6QZL	X-ray	198 A	A/B/C/D/E	202-325	PDB
AF-Q96CX2-F1	Predicted				AlphaFoldDB

307 variants for Q96CX2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1311045050 CA388360781	2	A>S		No	ClinGen gnomAD
TCGA novel	2	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388360769 rs1339335728	4	A>G		No	ClinGen TOPMed gnomAD
CA252993412 rs982735590	4	A>S		No	ClinGen TOPMed
rs1339335728 CA388360768	4	A>V		No	ClinGen TOPMed gnomAD
CA252993411 rs929853155	5	D>V		No	ClinGen gnomAD
rs752109232 CA388360745	8	R>C		No	ClinGen ExAC TOPMed gnomAD
rs752109232 CA7006938	8	R>G		No	ClinGen ExAC TOPMed gnomAD
CA252993410 rs557357636	9	G>E		No	ClinGen 1000Genomes ExAC gnomAD
CA388360740 rs1470967947	9	G>R		No	ClinGen gnomAD
CA7006937 rs557357636	9	G>V		No	ClinGen 1000Genomes ExAC gnomAD
CA388360725 rs1352946371	11	P>H		No	ClinGen Ensembl
rs1458650161 CA388360728	11	P>S		No	ClinGen TOPMed
CA388360714 rs1209612026	13	G>W		No	ClinGen TOPMed
CA252993409 rs969009474	14	G>D		No	ClinGen Ensembl
CA388360701 rs1199154666	15	G>D		No	ClinGen TOPMed
CA388360697 rs1186642122	16	G>S		No	ClinGen gnomAD
TCGA novel	18	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770707030 CA7006933	18	G>C		No	ClinGen ExAC gnomAD
rs1400930608 CA388360684	18	G>D		No	ClinGen TOPMed
CA388360679 rs1205730151	19	G>D		No	ClinGen gnomAD
CA388360671 rs1289945503	20	S>I		No	ClinGen gnomAD
rs773460579 CA7006930	23	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7006931 rs760502394	23	S>P		No	ClinGen ExAC
CA388360649 rs1433558574	24	S>*		No	ClinGen TOPMed gnomAD
CA388360647 rs1433558574 COSM3704704	24	S>L	liver [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1036229673 CA252993404	25	S>F		No	ClinGen TOPMed gnomAD
CA7006928 rs748429681	25	S>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	28	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388360616 rs1280250572	29	P>L		No	ClinGen TOPMed
CA388360619 rs1162591006	29	P>T		No	ClinGen TOPMed gnomAD
rs1386895725 CA388360607	31	L>F		No	ClinGen gnomAD
rs768791894 CA7006926	31	L>H		No	ClinGen ExAC TOPMed gnomAD
rs768791894 CA388360606	31	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1242564129 CA388360598	32	F>L		No	ClinGen gnomAD
TCGA novel	33	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	33	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs865778397 CA388360590	34	D>N		No	ClinGen gnomAD
rs865778397 CA252993401	34	D>Y		No	ClinGen gnomAD
CA7006924 rs780749378	35	I>V		No	ClinGen ExAC TOPMed gnomAD
CA388360564 rs1566376001	37	E>D		No	ClinGen Ensembl
CA7006923 rs756528447	37	E>K		No	ClinGen ExAC gnomAD
CA388360554 rs1339138468	39	N>S		No	ClinGen gnomAD
rs1487139313 CA388360556	39	N>Y		No	ClinGen TOPMed
CA252993400 rs868757207	41	G>V		No	ClinGen Ensembl
CA388360535 rs1566375985	42	G>A		No	ClinGen Ensembl
rs1433476942 CA388360539	42	G>C		No	ClinGen gnomAD
CA388360512 rs1405201886	45	Y>*		No	ClinGen gnomAD
rs1409224543 CA388360497	48	R>Q		No	ClinGen gnomAD
rs1419944231 CA388360485	50	C>Y		No	ClinGen gnomAD
rs754548131 CA7006916	53	V>M		No	ClinGen ExAC gnomAD
CA7006913 rs760627354	55	V>A		No	ClinGen ExAC gnomAD
CA7006914 rs766351561	55	V>M		No	ClinGen ExAC gnomAD
CA7006912 rs141180437	56	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761880892 CA7006910	57	D>H		No	ClinGen ExAC gnomAD
CA7006909 rs774690661	58	S>P		No	ClinGen ExAC TOPMed gnomAD
CA388360436 rs749431602	59	L>M		No	ClinGen ExAC gnomAD
CA388360412 rs1354935500	62	R>H		No	ClinGen gnomAD
CA388360413 rs1354935500	62	R>P		No	ClinGen gnomAD
CA252993395 rs929811928	63	M>T		No	ClinGen TOPMed gnomAD
CA7006904 rs746382839	64	F>L		No	ClinGen ExAC gnomAD
rs1177064448 CA388360395	65	T>A		No	ClinGen gnomAD
rs781355599 CA7006903	66	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA388360386 rs1431514571	66	Q>R		No	ClinGen gnomAD
rs757700115 CA7006902	67	Q>P		No	ClinGen ExAC
rs747749401 CA7006901	68	Q>P		No	ClinGen ExAC
CA7006898 rs143013358	69	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754459638 CA7006899	69	P>S		No	ClinGen ExAC gnomAD
CA388360362 rs1460373026	70	Q>*		No	ClinGen gnomAD
CA7006896 rs755978133	70	Q>H		No	ClinGen ExAC gnomAD
CA7006897 rs765905220	70	Q>P		No	ClinGen ExAC gnomAD
CA7006892 rs761710814	73	A>V		No	ClinGen ExAC gnomAD
rs770010786 CA252993394	74	R>L		No	ClinGen ExAC TOPMed gnomAD
rs770010786 CA388360339	74	R>P		No	ClinGen ExAC TOPMed gnomAD
rs770010786 CA7006887	74	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7006889 rs377318636	74	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA388360332 rs1470900377	75	D>E		No	ClinGen gnomAD
rs1361003949 CA388360329	76	S>G		No	ClinGen TOPMed gnomAD
rs777263912 CA7006885	76	S>N		No	ClinGen ExAC TOPMed gnomAD
CA388360322 rs1400358516	77	K>E		No	ClinGen gnomAD
rs988990113 CA252993393	77	K>N		No	ClinGen TOPMed
rs771165720 CA7006884	78	G>D		No	ClinGen ExAC gnomAD
CA388360306 rs1443226847	79	R>H		No	ClinGen gnomAD
CA388360289 rs1184793547	82	L>M		No	ClinGen gnomAD
rs748943230 CA7006880	84	R>P		No	ClinGen ExAC TOPMed gnomAD
rs748943230 CA388360274	84	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7006877 rs750320891	86	G>D		No	ClinGen ExAC gnomAD
rs755677211 CA7006879	86	G>R		No	ClinGen ExAC TOPMed gnomAD
CA7006878 rs755677211	86	G>S		No	ClinGen ExAC TOPMed gnomAD
CA388360255 rs73237446	87	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141477426 CA252993391	90	R>H		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs141477426 CA7006875	90	R>L		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs1566375846 CA388360238	90	R>S		No	ClinGen Ensembl
rs1359710356 CA388360234	91	Y>N		No	ClinGen gnomAD
rs1566375834 CA388360227	92	I>V		No	ClinGen Ensembl
CA7006872 rs763213974	97	R>Q		No	ClinGen ExAC gnomAD
rs1207405890 CA388360173	100	Q>K		No	ClinGen TOPMed
CA252993389 rs868628332	102	V>M		No	ClinGen Ensembl
CA388360153 rs1368800185	103	L>P		No	ClinGen gnomAD
CA388360146 rs1483521729	104	P>R		No	ClinGen TOPMed
rs545963879 CA252993388	105	D>G		No	ClinGen 1000Genomes gnomAD
CA388360137 rs1177954854	106	Y>H		No	ClinGen TOPMed
rs1236092325 CA388360120	108	P>S		No	ClinGen TOPMed
CA7006867 rs150038363	110	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388360095 rs1485937261	112	R>G		No	ClinGen gnomAD
rs887401147 CA252993386	114	Q>H		No	ClinGen TOPMed
CA388360076 rs1219841931	115	R>C		No	ClinGen gnomAD
rs1358229642 CA388360073	115	R>L		No	ClinGen gnomAD
CA7006865 rs773499484	118	E>D		No	ClinGen ExAC gnomAD
CA388360050 rs1294839045	119	Y>H		No	ClinGen gnomAD
CA7006862 CA7006863 rs779746764	120	F>L		No	ClinGen ExAC gnomAD
CA388360032 rs1403360552	121	E>D		No	ClinGen gnomAD
CA7006861 rs374062283	121	E>K		No	ClinGen ExAC TOPMed gnomAD
rs374062283 CA252993385	121	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA252993384 rs967519849	123	P>L		No	ClinGen TOPMed
rs967519849 CA388360023	123	P>Q		No	ClinGen TOPMed
rs1304133103 CA388360024	123	P>S		No	ClinGen gnomAD
CA388360021 rs1593866995	124	E>Q		No	ClinGen Ensembl
rs1593866992 CA388360011	125	L>F		No	ClinGen Ensembl
rs745335575 CA7006860	127	R>H		No	ClinGen ExAC gnomAD
CA388359996 rs1593866985	128	R>C		No	ClinGen Ensembl
CA252993383 rs1021913386	128	R>H		No	ClinGen TOPMed
CA388359992 rs1021913386	128	R>L		No	ClinGen TOPMed
rs780598789 CA7006859	129	L>F		No	ClinGen ExAC gnomAD
rs1425184959 CA388359985	130	G>R		No	ClinGen gnomAD
rs751470377 CA7006857	131	A>T		No	ClinGen ExAC gnomAD
CA7006856 rs777700845	132	P>S		No	ClinGen ExAC gnomAD
CA252993382 rs964094721	136	G>S		No	ClinGen gnomAD
rs896348208 CA252993381	137	P>L		No	ClinGen TOPMed gnomAD
TCGA novel	138	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1459079801 CA388359930	139	P>T		No	ClinGen TOPMed
rs1280185605 CA388359922	140	P>R		No	ClinGen gnomAD
rs1245953631 CA388359919	141	P>T		No	ClinGen TOPMed
TCGA novel	142	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750568955 CA7006851	142	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs750568955 CA7006852	142	S>W		No	ClinGen ExAC gnomAD
rs938793138 CA388359907	143	R>L		No	ClinGen TOPMed gnomAD
CA252993378 rs938793138	143	R>P		No	ClinGen TOPMed gnomAD
rs938793138 CA388359908	143	R>Q		No	ClinGen TOPMed gnomAD
rs1297918055 CA388359905	144	R>S		No	ClinGen TOPMed gnomAD
TCGA novel	145	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs557029373 CA388359868	149	E>G		No	ClinGen 1000Genomes ExAC gnomAD
CA7006848 rs557029373	149	E>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1329934965 CA388359861	150	G>D		No	ClinGen TOPMed
CA388359865 rs1243868679	150	G>S		No	ClinGen gnomAD
CA252993375 rs947400098	153	G>S		No	ClinGen TOPMed gnomAD
rs568383030 CA7006844	154	D>E		No	ClinGen 1000Genomes ExAC gnomAD
CA388359841 rs1416894200	154	D>Y		No	ClinGen gnomAD
rs781017967 CA252993374	155	E>K		No	ClinGen Ensembl
rs769449885 CA7006843	158	P>S		No	ClinGen ExAC gnomAD
CA388359805 rs1449686856	160	G>D		No	ClinGen TOPMed
rs1288823373 CA388359808	160	G>S		No	ClinGen TOPMed
CA388359798 rs1219571042	161	Y>C		No	ClinGen TOPMed
rs1202934734 CA388359789	162	S>L		No	ClinGen gnomAD
rs776148938 CA388359783	163	E>D		No	ClinGen ExAC TOPMed gnomAD
rs745512319 CA252993372	163	E>K		No	ClinGen ExAC TOPMed gnomAD
CA7006842 rs745512319	163	E>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	164	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1334150126 CA388359779	164	P>R		No	ClinGen gnomAD
rs867595241 CA252993371	164	P>S		No	ClinGen gnomAD
CA252993369 rs867085532	166	Q>H		No	ClinGen gnomAD
rs1038269499 CA252993370	166	Q>K		No	ClinGen TOPMed
rs866256379 CA388359762	167	Q>*		No	ClinGen gnomAD
rs866256379 CA252993368	167	Q>K		No	ClinGen gnomAD
rs867734936 CA252993366	168	E>D		No	ClinGen Ensembl
rs754769497 CA252993367	168	E>K		No	ClinGen Ensembl
rs1469708159 CA388359741	170	A>D		No	ClinGen gnomAD
CA388359739 rs1469708159	170	A>V		No	ClinGen gnomAD
CA388359733 rs1593866852	171	S>F		No	ClinGen Ensembl
rs777900937 CA7006838	172	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1362789418 CA388359728	172	A>V		No	ClinGen gnomAD
rs1441367949 CA388359724	173	G>E		No	ClinGen gnomAD
rs867222736 CA388359727 CA388359726	173	G>R		No	ClinGen gnomAD
rs867222736 CA252993364	173	G>W		No	ClinGen gnomAD
rs1241006776 CA388359705	176	S>L		No	ClinGen TOPMed gnomAD
rs1182946365 CA388359700	177	P>L		No	ClinGen gnomAD
rs747901027 CA7006836	179	L>M		No	ClinGen ExAC gnomAD
CA388359684 rs1202187102	180	E>G		No	ClinGen TOPMed gnomAD
rs778600147 CA7006835	182	A>S		No	ClinGen ExAC gnomAD
rs778600147 CA252993363	182	A>T		No	ClinGen ExAC gnomAD
CA7006834 rs570697372	183	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1356338387 CA388359662	184	R>C		No	ClinGen gnomAD
rs1356338387 CA388359663	184	R>G		No	ClinGen gnomAD
rs754019513 CA7006833	184	R>L		No	ClinGen ExAC TOPMed gnomAD
CA388359656 rs1384106102	185	S>N		No	ClinGen TOPMed gnomAD
CA388359659 rs1283536540	185	S>R		No	ClinGen TOPMed
rs766467569 CA7006832	186	P>A		No	ClinGen ExAC gnomAD
CA388359647 rs1380093021	186	P>L		No	ClinGen gnomAD
rs1158829645 CA388359643	187	S>Y		No	ClinGen gnomAD
CA388359639 rs1421100930	188	G>R		No	ClinGen TOPMed gnomAD
rs1162631635 CA388359633	189	G>S		No	ClinGen gnomAD
rs1445175102 CA388359629	189	G>V		No	ClinGen gnomAD
TCGA novel	190	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1190923221 CA388359626	190	A>S		No	ClinGen TOPMed gnomAD
CA388359628 rs1190923221	190	A>T		No	ClinGen TOPMed gnomAD
rs977822836 CA252993362	191	A>P		No	ClinGen TOPMed gnomAD
CA252993361 rs977822836	191	A>S		No	ClinGen TOPMed gnomAD
rs750896665 CA7006830	192	G>D		No	ClinGen ExAC gnomAD
rs993844748 CA252993360	192	G>S		No	ClinGen TOPMed gnomAD
rs552777809 CA7006828	193	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs552777809 CA388359611	193	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs552777809 CA388359610	193	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA388359598 rs1183823276	196	T>P		No	ClinGen TOPMed gnomAD
rs1357488826 CA388359587	197	P>L		No	ClinGen TOPMed gnomAD
rs1357488826 CA388359589	197	P>Q		No	ClinGen TOPMed gnomAD
CA388359588 rs1357488826	197	P>R		No	ClinGen TOPMed gnomAD
CA252993359 rs896389358	198	S>T		No	ClinGen TOPMed
CA388359581 rs1361823151	199	Q>K		No	ClinGen TOPMed
CA388359565 rs1325381327	201	L>P		No	ClinGen TOPMed gnomAD
rs770446602 CA7006823	202	D>E		No	ClinGen ExAC TOPMed gnomAD
rs776217189 CA7006824	202	D>G		No	ClinGen ExAC gnomAD
CA7006825 rs759217707	202	D>H		No	ClinGen ExAC TOPMed gnomAD
CA388359556 rs990400634	203	G>C		No	ClinGen gnomAD
CA388359557 rs990400634	203	G>R		No	ClinGen gnomAD
rs990400634 CA252993357	203	G>S		No	ClinGen gnomAD
CA388359547 rs1425132759	204	S>I		No	ClinGen gnomAD
CA7006821 rs772869446	205	R>Q		No	ClinGen ExAC gnomAD
rs746569069 CA388359543	205	R>W		No	ClinGen ExAC TOPMed gnomAD
CA388359540 rs1475018778	206	R>C		No	ClinGen TOPMed gnomAD
CA388359535 rs1372596523	206	R>L		No	ClinGen gnomAD
CA252993355 rs1002061210	207	S>W		No	ClinGen TOPMed gnomAD
rs1593866719 CA388359507	211	T>P		No	ClinGen Ensembl
CA252993354 rs754787768	212	I>M		No	ClinGen ExAC TOPMed gnomAD
rs749520604 CA7006816	213	G>R		No	ClinGen ExAC gnomAD
rs201657264 CA7006814	214	Y>*		No	ClinGen ExAC gnomAD
CA388359482 rs1339236726	215	R>C		No	ClinGen gnomAD
CA388359483 rs1339236726	215	R>S		No	ClinGen gnomAD
rs532883877 CA7006812	216	G>C		No	ClinGen 1000Genomes ExAC gnomAD
rs1405148327 CA388359463	218	Y>C		No	ClinGen gnomAD
rs1405148327 CA388359462	218	Y>F		No	ClinGen gnomAD
CA252993353 rs1025698560	219	T>P		No	ClinGen Ensembl
CA7006811 rs757704702	220	I>M		No	ClinGen ExAC TOPMed gnomAD
CA388359445 rs1566375545	221	G>E		No	ClinGen Ensembl
rs1478876823 CA388359441	222	R>W		No	ClinGen gnomAD
CA7006809 rs764518639	223	D>E		No	ClinGen ExAC TOPMed gnomAD
CA388359427 rs1199009869	224	A>V		No	ClinGen gnomAD
rs1439478122 CA388359411	226	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs776326691 CA388359404	227	D>E		No	ClinGen ExAC gnomAD
CA388359400 rs1202787464	228	A>S		No	ClinGen gnomAD
rs1202787464 CA388359402	228	A>T		No	ClinGen gnomAD
CA7006806 rs765902071	228	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1201053005 CA388359393	229	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs760431879 CA7006805	232	R>*		No	ClinGen ExAC
rs1593866642 CA388359369	233	V>G		No	ClinGen Ensembl
CA388359361 rs1261920089	234	A>V		No	ClinGen gnomAD
rs867900569 CA252993348	235	R>H		No	ClinGen gnomAD
rs867900569 CA388359356	235	R>L		No	ClinGen gnomAD
rs1277556874 CA388359354	236	I>V		No	ClinGen gnomAD
CA252993347 rs752430198	238	V>I		No	ClinGen Ensembl
CA388359332 rs1333338794	239	C>F		No	ClinGen gnomAD
rs749085447 CA7006799	245	A>V		No	ClinGen ExAC gnomAD
CA388359273 rs1416058307	248	V>A		No	ClinGen TOPMed
rs1416058307 CA388359274	248	V>G		No	ClinGen TOPMed
CA388359267 rs1427610928	249	F>S		No	ClinGen TOPMed gnomAD
rs1593866616 CA388359269	249	F>V		No	ClinGen Ensembl
CA388359248 rs1181092749	252	T>A		No	ClinGen gnomAD
CA7006794 rs757397849	252	T>N		No	ClinGen ExAC TOPMed gnomAD
rs778195303 CA7006792	253	L>M		No	ClinGen ExAC gnomAD
rs1444290514 CA388359233	254	N>K		No	ClinGen TOPMed
CA7006791 rs758969990	256	S>I		No	ClinGen ExAC
CA388359200 rs1281775689	259	P>L		No	ClinGen gnomAD
TCGA novel	261	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750154312 CA7006788	262	P>S		No	ClinGen ExAC gnomAD
rs750154312 CA7006787	262	P>T		No	ClinGen ExAC gnomAD
rs767130923 CA388359175	263	P>L		No	ClinGen ExAC gnomAD
rs767130923 CA7006786	263	P>Q		No	ClinGen ExAC gnomAD
rs1593866573 CA388359179	263	P>T		No	ClinGen Ensembl
rs1240087635 CA388359169	264	E>V		No	ClinGen TOPMed
CA252993346 rs1056365517	265	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs910714663 CA252993344	269	R>C		No	ClinGen TOPMed
rs1360946270 CA388359132	270	Y>C		No	ClinGen TOPMed gnomAD
rs1360946270 CA388359131	270	Y>F		No	ClinGen TOPMed gnomAD
rs370778084 CA7006783	274	F>I		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	274	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	280	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7006781 rs775091911	280	A>V		No	ClinGen ExAC gnomAD
CA388359045 rs1253158297	282	D>G		No	ClinGen TOPMed
CA388359048 rs1182934947	282	D>H		No	ClinGen gnomAD
rs769634652 CA7006780	283	K>R		No	ClinGen ExAC gnomAD
CA388359034 rs1239829408	284	L>M		No	ClinGen gnomAD
rs1287900912 CA388359023	286	E>K		No	ClinGen TOPMed gnomAD
CA252993342 rs781436981	289	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1313415783 CA388358985	291	M>K		No	ClinGen gnomAD
rs1229932845 CA388358973	293	A>T		No	ClinGen gnomAD
rs1381476020 CA388358966	294	C>R		No	ClinGen gnomAD
TCGA novel	295	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7006777 rs151278314	297	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7006775 rs777942519	298	G>V		No	ClinGen ExAC gnomAD
rs545985417 CA7006773	299	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA252993341 rs971768684	299	T>S		No	ClinGen TOPMed
rs545985417 CA7006774	299	T>S		No	ClinGen 1000Genomes ExAC gnomAD
rs142368706 CA7006771	301	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs367684793 CA252993340	305	S>G		No	ClinGen ESP TOPMed
CA252993339 rs914749125	306	T>A		No	ClinGen TOPMed gnomAD
CA388358888 rs914749125	306	T>S		No	ClinGen TOPMed gnomAD
CA7006769 rs140689403	309	S>G		No	ClinGen ESP ExAC gnomAD
CA388358847 rs1219774761	311	D>E		No	ClinGen gnomAD
CA7006767 rs750969614	311	D>G		No	ClinGen ExAC TOPMed gnomAD
CA388358843 rs1490137214	312	K>T		No	ClinGen gnomAD
rs763676243 CA7006766	313	I>N		No	ClinGen ExAC gnomAD
rs1284081642 CA388358814	316	S>N		No	ClinGen TOPMed
TCGA novel	317	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388358801 rs1305633362	318	T>A		No	ClinGen gnomAD
rs1293526038 CA388358793	319	E>*		No	ClinGen gnomAD
CA7006764 rs775473765	319	E>D		No	ClinGen ExAC gnomAD
rs1566375386 CA388358779	321	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	325	E>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with Q96CX2

2 regional properties for Q96CX2

Type	Name	Position	InterPro Accession
domain	BTB/POZ domain	34 - 137	IPR000210
domain	Potassium channel tetramerisation-type BTB domain	36 - 125	IPR003131

Functions

		Description
EC Number
Subcellular Localization	Presynaptic cell membrane Postsynaptic cell membrane
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
anchoring junction	A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix.
cell projection	A prolongation or process extending from a cell, e.g. a flagellum or axon.
postsynaptic membrane	A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters cross the synaptic cleft and transmit the signal to the postsynaptic membrane.
presynaptic membrane	A specialized area of membrane of the axon terminal that faces the plasma membrane of the neuron or muscle fiber with which the axon terminal establishes a synaptic junction; many synaptic junctions exhibit structural presynaptic characteristics, such as conical, electron-dense internal protrusions, that distinguish it from the remainder of the axon plasma membrane.

2 GO annotations of molecular function

Name	Definition
identical protein binding	Binding to an identical protein or proteins.
RNA binding	Binding to an RNA molecule or a portion thereof.

1 GO annotations of biological process

Name	Definition
protein homooligomerization	The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of identical component monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer.

10 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q29RJ0	KCTD18	BTB/POZ domain-containing protein KCTD18	Bos taurus (Bovine)	PR
A6H6X4	KCTD4	BTB/POZ domain-containing protein KCTD4	Bos taurus (Bovine)	PR
Q68DU8	KCTD16	BTB/POZ domain-containing protein KCTD16	Homo sapiens (Human)	PR
Q6ZWB6	KCTD8	BTB/POZ domain-containing protein KCTD8	Homo sapiens (Human)	PR
Q8N5I3	KCNRG	Potassium channel regulatory protein	Homo sapiens (Human)	PR
Q9BQ13	KCTD14	BTB/POZ domain-containing protein KCTD14	Homo sapiens (Human)	PR
Q6PI47	KCTD18	BTB/POZ domain-containing protein KCTD18	Homo sapiens (Human)	PR
Q50H33	Kctd8	BTB/POZ domain-containing protein KCTD8	Mus musculus (Mouse)	PR
Q5DTY9	Kctd16	BTB/POZ domain-containing protein KCTD16	Mus musculus (Mouse)	PR
Q6WVG3	Kctd12	BTB/POZ domain-containing protein KCTD12	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MALADSTRGL	PNGGGGGGGS	GSSSSSAEPP	LFPDIVELNV	GGQVYVTRRC	TVVSVPDSLL
70	80	90	100	110	120
WRMFTQQQPQ	ELARDSKGRF	FLDRDGFLFR	YILDYLRDLQ	LVLPDYFPER	SRLQREAEYF
130	140	150	160	170	180
ELPELVRRLG	APQQPGPGPP	PSRRGVHKEG	SLGDELLPLG	YSEPEQQEGA	SAGAPSPTLE
190	200	210	220	230	240
LASRSPSGGA	AGPLLTPSQS	LDGSRRSGYI	TIGYRGSYTI	GRDAQADAKF	RRVARITVCG
250	260	270	280	290	300
KTSLAKEVFG	DTLNESRDPD	RPPERYTSRY	YLKFNFLEQA	FDKLSESGFH	MVACSSTGTC
310	320
AFASSTDQSE	DKIWTSYTEY	VFCRE