AiPD: Autoinhibited Protein Database

Q68DU8

Gene name	KCTD16 (KIAA1317)
Protein name	BTB/POZ domain-containing protein KCTD16
Names	Potassium channel tetramerization domain-containing protein 16
Species	Homo sapiens (Human)
KEGG Pathway	hsa:57528
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

268-419 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

268-419 (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

8 structures for Q68DU8

Entry ID	Method	Resolution	Chain	Position	Source
5A15	X-ray	276 A	A/B/C/D/E/F/G/H/I/J/K/L/M/N/O	16-133	PDB
6I0Q	X-ray	230 A	A	22-124	PDB
6M8R	X-ray	320 A	A/B/C/D/E/F/G/H/I/J	23-124	PDB
6OCP	X-ray	235 A	A/B/C/D/E/F/G/H/I/J/K/L/M/N/O	22-134	PDB
6OCR	X-ray	228 A	A/B/C/D/E/F/G/H/I/J/K/L/M/N/O	22-134	PDB
6OCT	X-ray	280 A	A/B/C/D/E/F/G/H/I/J	22-134	PDB
6QB7	X-ray	223 A	A/B/C/D/E	126-286	PDB
AF-Q68DU8-F1	Predicted				AlphaFoldDB

325 variants for Q68DU8

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1334523333 CA361872789	3	L>M		No	ClinGen gnomAD
CA361872820 rs1238873225	7	C>S		No	ClinGen gnomAD
CA361872826 rs1266970254	8	S>C		No	ClinGen gnomAD
COSM1662397 CA3487431 rs1554080499	9	R>C	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA3487433 rs373329363	9	R>H	Variant assessed as Somatic; 9.254e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs775143754 CA3487434	11	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA129359024 rs953538401	12	P>S		No	ClinGen TOPMed
rs1408904819 CA361872857	13	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA361872882 rs1183994388	16	G>V		No	ClinGen gnomAD
rs150393390 CA129359025	17	S>C		No	ClinGen ESP TOPMed gnomAD
rs1417244673 CA361872889	18	A>T	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3487436 rs768216066	19	V>I		No	ClinGen ExAC gnomAD
CA3487437 rs768216066	19	V>L		No	ClinGen ExAC gnomAD
rs762054803 CA3487438	21	N>D		No	ClinGen ExAC gnomAD
CA361872927 rs1163132499	24	P>S		No	ClinGen gnomAD
CA3487440 rs750919219	27	V>A		No	ClinGen ExAC gnomAD
rs1462635734 CA361872958	29	L>M		No	ClinGen gnomAD
TCGA novel	30	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3487441 rs763466986	31	V>A		No	ClinGen ExAC TOPMed gnomAD
CA361872971 rs1580786890	31	V>I		No	ClinGen Ensembl
CA361872983 rs751609778	33	G>C		No	ClinGen ExAC gnomAD
CA3487443 rs751609778	33	G>S		No	ClinGen ExAC gnomAD
rs936927619 CA129359026	38	T>I		No	ClinGen TOPMed
rs752566689 CA3487445	39	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs191919061 CA3487446	39	R>H		No	ClinGen 1000Genomes ExAC gnomAD
CA129359027 rs191919061	39	R>L		No	ClinGen 1000Genomes ExAC gnomAD
CA3487447 rs757102463	40	H>L		No	ClinGen ExAC gnomAD
CA361873027 rs1291123280	40	H>Y		No	ClinGen TOPMed gnomAD
CA361873043 rs1204696474	42	T>I		No	ClinGen gnomAD
CA129359028 rs1052898044	44	I>V		No	ClinGen TOPMed gnomAD
CA361873060 rs1275452824	45	S>N		No	ClinGen TOPMed
rs377447372 CA361873071	46	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1204411698 CA361873067	46	I>V		No	ClinGen gnomAD
rs772167812 CA3487450	48	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA361873089 rs1380858908	49	S>C		No	ClinGen TOPMed
CA3487453 rs768254370	51	L>P		No	ClinGen ExAC gnomAD
CA3487454 rs776145288	52	W>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	53	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3487455 rs761586524	54	M>T		No	ClinGen ExAC gnomAD
TCGA novel	55	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361873142 rs1561528711	57	P>Q		No	ClinGen Ensembl
rs1413415737 CA361873141	57	P>S		No	ClinGen gnomAD
rs1456165493 CA361873150	58	K>M		No	ClinGen TOPMed gnomAD
TCGA novel	58	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1456165493 CA361873149	58	K>R		No	ClinGen TOPMed gnomAD
CA361873155 rs1432151208	59	R>K		No	ClinGen TOPMed
rs773575209 CA3487457	60	D>Y		No	ClinGen ExAC gnomAD
rs1364321342 CA361873169	61	T>A		No	ClinGen TOPMed
rs147542983 CA3487458	61	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA129359030 rs900129566	62	A>G		No	ClinGen TOPMed
rs1396700378 CA361873181	63	N>I		No	ClinGen gnomAD
rs752160868 CA3487460	63	N>K		No	ClinGen ExAC gnomAD
rs759524715 CA3487461	64	D>N		No	ClinGen ExAC gnomAD
CA361873197 rs1227376801	66	A>S		No	ClinGen gnomAD
CA3487462 rs546520798	66	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA129359031 rs184223967	69	S>T		No	ClinGen 1000Genomes
rs752797872 CA3487463	70	K>R		No	ClinGen ExAC gnomAD
rs146836865 CA3487464	71	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	71	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	79	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3487466 rs750274721	83	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA129359033 rs199806335	88	Y>C		No	ClinGen Ensembl
CA3487467 rs758308140	91	D>N		No	ClinGen ExAC gnomAD
CA3487470 rs754440298	93	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA3487472 rs747738434	94	V>G		No	ClinGen ExAC gnomAD
rs780756195 CA3487471	94	V>M		No	ClinGen ExAC gnomAD
CA361873399 rs1580787166	95	V>G		No	ClinGen Ensembl
rs375427614 CA129359035	97	P>S		No	ClinGen ESP
rs769455523 CA3487473	98	D>N		No	ClinGen ExAC
rs200456602 CA129359036	99	H>Q		No	ClinGen Ensembl
TCGA novel	101	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1290323715 CA361873466	105	R>S		No	ClinGen gnomAD
CA361873477 rs1359444582	107	K>R		No	ClinGen gnomAD
CA3487475 rs749634452	108	R>M		No	ClinGen ExAC gnomAD
CA3487477 rs139231622	116	P>S		No	ClinGen ESP ExAC gnomAD
rs1317661304 CA361873556	118	L>F		No	ClinGen gnomAD
TCGA novel	122	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3487481 CA3487482 rs760940703	125	D>E		No	ClinGen ExAC TOPMed gnomAD
rs761877984 CA129359037	125	D>G		No	ClinGen TOPMed gnomAD
CA361873595 rs1224202448 COSM1063681	125	D>N	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs1287857996 CA361873613	127	I>S		No	ClinGen Ensembl
CA361873609 rs1255311848	127	I>V		No	ClinGen gnomAD
TCGA novel	128	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361873659 rs1172548580	133	E>D		No	ClinGen gnomAD
rs865986167 CA129359038	133	E>K		No	ClinGen Ensembl
rs758252977 CA3487484	134	F>L		No	ClinGen ExAC gnomAD
TCGA novel	135	C>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361873667 rs1402891254	135	C>S		No	ClinGen gnomAD
CA3487487 rs754953427	138	D>E		No	ClinGen ExAC TOPMed
CA3487486 rs751384415	138	D>G		No	ClinGen ExAC gnomAD
rs751384415 CA129359040	138	D>V		No	ClinGen ExAC gnomAD
CA361873715 rs1326134727	141	D>G		No	ClinGen gnomAD
rs780514964 CA3487488	141	D>N		No	ClinGen ExAC gnomAD
CA361873714 rs1326134727	141	D>V		No	ClinGen gnomAD
CA3487489 rs374426613	142	A>T		No	ClinGen ESP ExAC gnomAD
CA129359041 rs777394482	143	S>F		No	ClinGen ExAC gnomAD
CA3487491 rs777394482	143	S>Y		No	ClinGen ExAC gnomAD
rs1373988724 CA361873739	145	G>E		No	ClinGen gnomAD
rs147117374 CA361873748	146	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs143356794 COSM106831 CA3487493	147	D>N	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
rs1437818021 CA361873762	148	T>I		No	ClinGen TOPMed
CA3487494 rs774793246	149	R>S		No	ClinGen ExAC gnomAD
CA3487495 rs750638083	150	I>M		No	ClinGen ExAC gnomAD
CA129359042 rs763107933	151	C>F		No	ClinGen TOPMed
rs772665965 CA3487496	151	C>W		No	ClinGen ExAC TOPMed gnomAD
rs1161435355 CA361873786	152	P>L		No	ClinGen TOPMed
rs776180589 CA3487497	153	P>A		No	ClinGen ExAC TOPMed gnomAD
CA3487499 rs764325824	153	P>L		No	ClinGen ExAC TOPMed gnomAD
rs776180589 CA361873787	153	P>S		No	ClinGen ExAC TOPMed gnomAD
rs776180589 CA3487498	153	P>T		No	ClinGen ExAC TOPMed gnomAD
rs199689235 CA3487501	154	S>F		No	ClinGen ExAC TOPMed gnomAD
rs776987268 CA3487500	154	S>P		No	ClinGen ExAC TOPMed gnomAD
CA3487502 rs766026967	155	S>C		No	ClinGen ExAC gnomAD
CA361873797 rs766026967	155	S>F		No	ClinGen ExAC gnomAD
TCGA novel	156	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3487503 rs751388398	157	L>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	158	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3487504 rs754826888	158	P>L		No	ClinGen ExAC gnomAD
rs767471123 CA3487505	159	A>V		No	ClinGen ExAC gnomAD
rs1221342747 CA361873823	160	D>G		No	ClinGen TOPMed
CA3487508 rs148158462	160	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148158462 CA361873820	160	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3487509 rs753433220	161	R>C		No	ClinGen ExAC TOPMed gnomAD
CA361873827 rs753433220	161	R>G		No	ClinGen ExAC TOPMed gnomAD
rs756957270 CA3487510	161	R>H		No	ClinGen ExAC gnomAD
CA129359043 rs988316029	163	W>C		No	ClinGen TOPMed gnomAD
TCGA novel	163	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361873846 rs1295411791	164	G>S		No	ClinGen gnomAD
rs746212035 CA3487512	169	G>V		No	ClinGen ExAC gnomAD
COSM420854 rs1220306308 CA361873888	170	Y>C	Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs780692300 CA3487514	172	G>E		No	ClinGen ExAC gnomAD
CA361873901 rs1318920301	172	G>R		No	ClinGen TOPMed
rs1251721402 CA361873913	174	C>Y		No	ClinGen gnomAD
rs747584875 CA3487515	175	T>A		No	ClinGen ExAC gnomAD
rs1419881046 CA361873925	176	L>S		No	ClinGen gnomAD
CA361873933 rs1419307782	177	G>D		No	ClinGen gnomAD
TCGA novel	177	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776862453 CA3487517	181	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1389869918 CA361873964	182	A>T		No	ClinGen TOPMed
CA361873978 rs1468434811	184	A>T		No	ClinGen TOPMed
rs1358589001 CA361873985	185	K>E		No	ClinGen TOPMed
rs1176950513 CA361873995	186	F>S		No	ClinGen TOPMed
CA361874001 rs1422003230	187	R>Q		No	ClinGen TOPMed gnomAD
rs773343153 COSM205500 CA3487520	187	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs947127517 CA129359045	190	P>H		No	ClinGen TOPMed gnomAD
CA361874023 rs1369863343	191	R>W		No	ClinGen gnomAD
rs752567922 CA3487523	195	C>G		No	ClinGen ExAC gnomAD
CA129359046 rs900201583	200	L>V		No	ClinGen TOPMed
rs763548397 CA3487525	200	L>W		No	ClinGen ExAC gnomAD
rs1213163129 CA361874090	201	A>V		No	ClinGen gnomAD
CA3487526 rs753379870	202	K>E		No	ClinGen ExAC gnomAD
CA361874108 COSM312232 rs1213597696	204	V>F	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA361874121 rs1580787654	206	G>R		No	ClinGen Ensembl
CA129359047 rs932967948	207	E>D		No	ClinGen TOPMed
rs1163729468 CA361874156 COSM1696460	211	E>K	skin [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA3487528 rs778606553	212	S>G		No	ClinGen ExAC gnomAD
COSM50540 CA361874198 rs1440175116	217	R>G	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
COSM1130853 CA3487529 rs750101809	217	R>Q	large_intestine skin prostate [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA361874206 rs1242336976	218	A>G		No	ClinGen gnomAD
rs1295983050 CA361874212	219	P>L		No	ClinGen TOPMed
CA3487530 rs544361716	219	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA361874223 rs1435284361	221	R>K		No	ClinGen gnomAD
TCGA novel	225	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	225	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1300282335 CA361874259	226	F>S		No	ClinGen TOPMed
rs1261637490 CA361874300	231	K>N		No	ClinGen Ensembl
CA361874297 rs1319295075	231	K>R		No	ClinGen gnomAD
rs780567617 CA3487531	232	H>N		No	ClinGen ExAC gnomAD
rs1433083367 CA361874307	232	H>Q		No	ClinGen gnomAD
rs747458169 CA3487532	233	L>P		No	ClinGen ExAC gnomAD
CA3487533 rs769305903	234	E>Q		No	ClinGen ExAC gnomAD
CA361874316 rs1348990432	234	E>V		No	ClinGen gnomAD
rs748223261 CA3487535	239	M>T		No	ClinGen ExAC gnomAD
TCGA novel	240	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3487536 rs769825888	242	E>D		No	ClinGen ExAC gnomAD
rs773482773 CA3487537	243	C>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	244	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763092682 CA3487538	244	G>V		No	ClinGen ExAC gnomAD
rs775287854 CA3487540	247	M>L		No	ClinGen ExAC gnomAD
CA3487541 rs775287854	247	M>V		No	ClinGen ExAC gnomAD
CA361874413 rs1369592911	248	V>L		No	ClinGen TOPMed gnomAD
rs1369592911 CA361874411	248	V>M		No	ClinGen TOPMed gnomAD
CA3487542 rs150713689	249	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3487543 rs753768585	251	N>S		No	ClinGen ExAC gnomAD
rs761373442 CA3487544	252	S>L		No	ClinGen ExAC gnomAD
rs1159220853 CA361874437	252	S>T		No	ClinGen gnomAD
rs750023878 COSM1696461 CA3487546	253	S>L	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs752000601 CA3487549	256	A>P		No	ClinGen ExAC TOPMed gnomAD
rs1240309472 CA361874464	257	S>T		No	ClinGen gnomAD
rs139113029 CA3487551	259	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361874488 rs1479349408	260	N>S		No	ClinGen TOPMed
CA361874503 rs1273288923	262	Y>C		No	ClinGen TOPMed
rs748673825 CA3487552	262	Y>H		No	ClinGen ExAC gnomAD
CA3487554 rs371601238	264	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA3487555 rs749481448	265	D>E		No	ClinGen ExAC gnomAD
CA3487556 rs771175116	268	W>S		No	ClinGen ExAC TOPMed gnomAD
rs1243117501 CA361874575	272	T>N		No	ClinGen TOPMed
rs1229848703 CA361874598	275	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1554080635 CA361874612	277	Y>C		No	ClinGen Ensembl
rs768498501 CA3487559	278	R>C		No	ClinGen ExAC TOPMed gnomAD
rs768498501 CA361874616 COSM3674338	278	R>G	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA129389018 rs1013701218	279	E>G		No	ClinGen gnomAD
CA361874659 rs1181269891	281	S>C		No	ClinGen gnomAD
CA3487574 rs779094393	282	R>G		No	ClinGen ExAC gnomAD
rs776301270 CA3487577	289	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1554096896 CA361874721	290	C>S		No	ClinGen Ensembl
TCGA novel	292	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361874747 CA129389019 rs1023797281	293	K>N		No	ClinGen TOPMed
rs1409681582 CA361874759	295	G>D		No	ClinGen gnomAD
rs1369257560 CA361874756	295	G>S		No	ClinGen gnomAD
CA3487579 rs748067897	297	G>A		No	ClinGen ExAC TOPMed gnomAD
CA3487578 rs748067897	297	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1423666960 CA361874770	297	G>S		No	ClinGen TOPMed
rs1355486241 CA361874780	298	D>E		No	ClinGen gnomAD
CA3487580 rs773239066	301	G>R		No	ClinGen ExAC gnomAD
rs1179809465 CA361874802	301	G>V		No	ClinGen TOPMed
CA361874810 rs1320963576	302	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs568179987 CA3487582	304	G>D		No	ClinGen 1000Genomes ExAC gnomAD
rs139920765 CA129389020	304	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
rs774084184 CA3487583	305	T>A		No	ClinGen ExAC gnomAD
rs372522368 CA3487584	305	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs753037349 CA3487586	307	C>F		No	ClinGen ExAC TOPMed gnomAD
rs1580992298 CA361874851	309	D>A		No	ClinGen Ensembl
CA361874866 rs1331305804	311	S>C		No	ClinGen Ensembl
CA3487589 rs146760710	313	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1446429423 CA361874876	313	S>C		No	ClinGen gnomAD
rs146760710 CA3487588	313	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	314	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3487593 rs758569494	316	D>A		No	ClinGen ExAC gnomAD
rs750586344 CA3487592	316	D>N		No	ClinGen ExAC TOPMed gnomAD
CA361874911 rs1164402225	318	Q>R		No	ClinGen TOPMed
rs780997593 CA3487594	319	S>T		No	ClinGen ExAC gnomAD
TCGA novel	321	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769674983 CA3487596	322	S>I		No	ClinGen ExAC gnomAD
CA3487597 rs777554566	323	S>C		No	ClinGen ExAC TOPMed gnomAD
rs777554566 CA361874945	323	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs1437668355 CA361874952	324	P>L		No	ClinGen gnomAD
rs1429864205 CA361874962	326	E>Q		No	ClinGen TOPMed
rs148474129 CA361874972	327	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA3487599 rs148474129	327	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1270931290 CA361874988	330	C>R		No	ClinGen TOPMed
CA3487603 rs775259127	333	V>M		No	ClinGen ExAC TOPMed gnomAD
COSM590398 CA3487604 rs760934349	335	R>C	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs764587697 CA3487605	335	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1413206528 CA361875029	336	Q>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA129389024 COSM1063697 rs868542964	344	R>C	Variant assessed as Somatic; 0.0 impact. endometrium central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA361875080 rs1434066147 COSM292188	344	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1347525310 CA361875090	346	I>V		No	ClinGen TOPMed
CA3487609 rs370037481	347	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs750531391 CA3487610	349	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs867663751 CA129389026	350	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA361875121 rs1386653291	351	V>I		No	ClinGen TOPMed
CA3487612 rs780115075	352	Q>L		No	ClinGen ExAC gnomAD
rs780115075 CA361875130	352	Q>P		No	ClinGen ExAC gnomAD
CA3487613 rs751862752	353	L>V		No	ClinGen ExAC gnomAD
CA3487614 rs755853865	358	E>D		No	ClinGen ExAC TOPMed gnomAD
rs570566784 CA3487615	359	M>I		No	ClinGen 1000Genomes ExAC gnomAD
rs931777861 CA129389027	359	M>T		No	ClinGen Ensembl
rs202165401 CA3487616	360	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA129389028 rs918707256	361	R>G		No	ClinGen TOPMed
rs771025690 CA3487617	361	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA361875188 rs935283310	362	K>E		No	ClinGen TOPMed gnomAD
rs935283310 CA129389029	362	K>Q		No	ClinGen TOPMed gnomAD
rs879003392 CA129389030	363	S>N		No	ClinGen Ensembl
CA361875219 rs1198982796	366	L>V		No	ClinGen TOPMed
CA3487620 rs745350480	367	R>G		No	ClinGen ExAC TOPMed gnomAD
rs775001984 CA3487621	367	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA3487619 rs745350480	367	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs377389682 CA3487622	368	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA361875227 rs1257641176	368	T>S		No	ClinGen TOPMed
TCGA novel	371	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1326368636 CA361875242	371	S>P		No	ClinGen gnomAD
rs777002557 CA3487624	372	G>C		No	ClinGen ExAC gnomAD
TCGA novel	372	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA129389031 rs905285392	373	S>C		No	ClinGen Ensembl
CA3487625 rs762266741	374	R>G		No	ClinGen ExAC gnomAD
rs765700501 CA3487627	375	E>D		No	ClinGen ExAC TOPMed gnomAD
COSM1696462 rs766543181 CA3487629	376	S>L	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA3487628 rs762923781	376	S>T		No	ClinGen ExAC gnomAD
CA361875274 rs1422411702	377	N>H		No	ClinGen gnomAD
rs1309856758 CA361875278	377	N>S		No	ClinGen TOPMed
rs1450218134 CA361875287	378	M>I		No	ClinGen gnomAD
CA361875285 rs1292501647	378	M>T		No	ClinGen TOPMed gnomAD
rs368969663 CA3487631	378	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs113526376 CA129389033	379	S>G		No	ClinGen Ensembl
CA361875293 rs1221561604	379	S>N		No	ClinGen gnomAD
rs763943596 CA3487632	379	S>R		No	ClinGen ExAC gnomAD
CA361875296 rs373514581	380	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1183716303 CA361875298	380	S>N		No	ClinGen gnomAD
rs373514581 CA3487633	380	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1561621640 CA361875301	380	S>R		No	ClinGen Ensembl
CA361875314 rs1266312035	382	K>T		No	ClinGen Ensembl
rs757167871 CA3487636	384	A>P		No	ClinGen ExAC TOPMed gnomAD
rs757167871 CA361875327	384	A>T		No	ClinGen ExAC TOPMed gnomAD
CA361875332 rs1477448880	385	V>I		No	ClinGen TOPMed
rs141010798 CA3487638	389	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs902294491 CA129389034	391	I>N		No	ClinGen TOPMed
CA3487640 rs146541436	391	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361875380 rs371767006	392	E>A		No	ClinGen ESP TOPMed gnomAD
rs371767006 CA361875381	392	E>G		No	ClinGen ESP TOPMed gnomAD
CA129389035 rs867978847	392	E>K		No	ClinGen Ensembl
CA129389036 rs371767006	392	E>V		No	ClinGen ESP TOPMed gnomAD
rs1279682533 CA361875386	393	E>G		No	ClinGen TOPMed
rs746593076 CA3487641	393	E>K		No	ClinGen ExAC TOPMed gnomAD
rs746593076 CA3487642	393	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA129389037 rs201108801	394	E>K		No	ClinGen 1000Genomes
COSM1063698 CA361875409 rs1306297841	396	E>D	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA361875432 rs1199925227	399	I>M		No	ClinGen TOPMed
rs776304481 CA3487643	401	D>E		No	ClinGen ExAC gnomAD
TCGA novel	401	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	402	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1262982716 CA361875462	404	K>E		No	ClinGen TOPMed
rs748487086 CA3487644	404	K>N		No	ClinGen ExAC gnomAD
rs147890155 CA129389038	410	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA gnomAD
CA3487646 rs773702035	410	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1344972297 CA361875531	414	R>K		No	ClinGen gnomAD
rs1249046875 CA361875547	416	H>R		No	ClinGen gnomAD
CA3487648 rs766323381	416	H>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	417	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3487649 rs376520312 COSM736532	417	P>S	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
CA3487650 rs759578290 COSM3702751	422	L>P	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs767834547 CA3487651	424	R>K		No	ClinGen ExAC gnomAD
rs753026633 CA3487652	425	K>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA129389040 rs746442641	426	Y>C		No	ClinGen Ensembl
rs1307455568 CA361875624	427	H>R		No	ClinGen TOPMed

No associated diseases with Q68DU8

2 regional properties for Q68DU8

Type	Name	Position	InterPro Accession
domain	BTB/POZ domain	25 - 130	IPR000210
domain	Potassium channel tetramerisation-type BTB domain	27 - 118	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

5 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.
receptor complex	Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

2 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.
regulation of G protein-coupled receptor signaling pathway	Any process that modulates the frequency, rate or extent of G protein-coupled receptor signaling pathway.

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
Q6ZWB6	KCTD8	BTB/POZ domain-containing protein KCTD8	Homo sapiens (Human)	PR
Q96CX2	KCTD12	BTB/POZ domain-containing protein KCTD12	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
Q6WVG3	Kctd12	BTB/POZ domain-containing protein KCTD12	Mus musculus (Mouse)	PR
Q5DTY9	Kctd16	BTB/POZ domain-containing protein KCTD16	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MALSGNCSRY	YPREQGSAVP	NSFPEVVELN	VGGQVYFTRH	STLISIPHSL	LWKMFSPKRD
70	80	90	100	110	120
TANDLAKDSK	GRFFIDRDGF	LFRYILDYLR	DRQVVLPDHF	PEKGRLKREA	EYFQLPDLVK
130	140	150	160	170	180
LLTPDEIKQS	PDEFCHSDFE	DASQGSDTRI	CPPSSLLPAD	RKWGFITVGY	RGSCTLGREG
190	200	210	220	230	240
QADAKFRRVP	RILVCGRISL	AKEVFGETLN	ESRDPDRAPE	RYTSRFYLKF	KHLERAFDML
250	260	270	280	290	300
SECGFHMVAC	NSSVTASFIN	QYTDDKIWSS	YTEYVFYREP	SRWSPSHCDC	CCKNGKGDKE
310	320	330	340	350	360
GESGTSCNDL	STSSCDSQSE	ASSPQETVIC	GPVTRQTNIQ	TLDRPIKKGP	VQLIQQSEMR
370	380	390	400	410	420
RKSDLLRTLT	SGSRESNMSS	KKKAVKEKLS	IEEELEKCIQ	DFLKIKIPDR	FPERKHPWQS

ELLRKYHL