AiPD: Autoinhibited Protein Database

Q6PI47

Gene name	KCTD18
Protein name	BTB/POZ domain-containing protein KCTD18
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:130535
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

78-151 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

78-151 (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 Q6PI47

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q6PI47-F1	Predicted				AlphaFoldDB

377 variants for Q6PI47

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs762665354 CA2047828	2	E>D		No	ClinGen ExAC gnomAD
CA350255572 rs1180934410	2	E>G		No	ClinGen gnomAD
CA2047829 rs763914151	2	E>Q		No	ClinGen ExAC gnomAD
rs775227512 CA2047827	3	G>D		No	ClinGen ExAC gnomAD
CA2047825 rs759329902	6	A>S		No	ClinGen ExAC TOPMed gnomAD
CA2047824 rs776252387	8	E>*		No	ClinGen ExAC gnomAD
TCGA novel	9	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350255286 rs1286708156	9	E>D		No	ClinGen gnomAD
CA2047823 rs116397561	9	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	12	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748640319 CA2047822	13	V>I		No	ClinGen ExAC TOPMed gnomAD
rs774750730 COSM1014686 CA2047821	15	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2047820 rs768998322	15	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA350255091 rs1401404490	17	N>K		No	ClinGen gnomAD
CA63803075 rs1055237519	18	V>M		No	ClinGen Ensembl
rs931549222 CA63803064	19	G>D		No	ClinGen Ensembl
CA2047818 rs780454205	19	G>S		No	ClinGen ExAC TOPMed gnomAD
CA2047816 rs746126584	20	G>A		No	ClinGen ExAC gnomAD
rs769997113 CA2047817	20	G>S		No	ClinGen ExAC gnomAD
CA350254969 rs746126584	20	G>V		No	ClinGen ExAC gnomAD
CA2047814 rs757315067	21	C>Y		No	ClinGen ExAC gnomAD
TCGA novel	23	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350254874 rs1369749112	24	T>I		No	ClinGen TOPMed gnomAD
CA63803030 rs759994885	25	A>D		No	ClinGen Ensembl
TCGA novel	26	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2047813 rs751451505	26	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA63803014 rs1016053678	27	R>Q		No	ClinGen TOPMed
rs1243082924 CA350254737	27	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs777589338 CA2047812	28	E>G		No	ClinGen ExAC gnomAD
CA350254727 rs1209850091	28	E>Q		No	ClinGen TOPMed gnomAD
CA2047811 rs758422338	29	S>A		No	ClinGen ExAC gnomAD
CA2047810 rs752537799	30	L>S		No	ClinGen ExAC gnomAD
CA350254601 rs1188876683	31	C>G		No	ClinGen gnomAD
rs1242705499 CA350254580	31	C>W		No	ClinGen gnomAD
rs765163919 CA2047809	31	C>Y		No	ClinGen ExAC gnomAD
CA2047808 rs375702850	32	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs375702850 CA2047807	32	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs765871188 COSM1014684 CA2047806	32	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs371424420 CA2047805	34	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA2047804 rs774862802	34	K>T		No	ClinGen ExAC gnomAD
CA2047803 rs769029522	35	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA350254411 rs1405657085	36	S>F		No	ClinGen TOPMed gnomAD
rs1559187254 CA350254372	37	M>I		No	ClinGen Ensembl
TCGA novel	37	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM2156195 CA2047801 rs763515598	39	A>S	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1161033051 CA350254249	40	S>C		No	ClinGen gnomAD
rs148180378 CA350254225	41	M>L		No	ClinGen ESP TOPMed gnomAD
rs148180378 CA2047799	41	M>V		No	ClinGen ESP TOPMed gnomAD
CA2047798 rs775796722	43	S>R		No	ClinGen ExAC TOPMed gnomAD
CA2047797 rs770190157	45	R>C	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs770190157 CA350254146	45	R>G		No	ClinGen ExAC TOPMed gnomAD
rs367891868 CA2047796 COSM282109	45	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA350253993 rs1246636211	50	T>I		No	ClinGen gnomAD
CA2047794 rs770988140	52	E>G		No	ClinGen ExAC gnomAD
rs747050814 CA2047793	53	S>*		No	ClinGen ExAC gnomAD
rs141790775 CA2047792	54	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1298590587 CA350252754	55	A>P		No	ClinGen gnomAD
rs773144398 CA2047775	56	C>S		No	ClinGen ExAC gnomAD
rs1234351190 CA350252653	58	I>T		No	ClinGen gnomAD
CA350252643 rs1221930486	59	D>Y		No	ClinGen Ensembl
rs146496679 CA2047771	60	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs190073399 CA2047770	60	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs146496679 CA2047772	60	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs376966621 CA2047769	61	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA2047768 rs376966621	61	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1371768598 CA350252510	62	G>E		No	ClinGen gnomAD
CA350252505 rs1371768598	62	G>V		No	ClinGen gnomAD
rs569636252 CA2047767	63	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1437318548 CA350252499	63	R>H		No	ClinGen TOPMed gnomAD
rs569636252 CA2047766	63	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2047763 rs532788252	65	F>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1483979417 CA350252283	67	Y>*		No	ClinGen TOPMed gnomAD
CA2047762 rs149993731	67	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA350252335 rs1364809853	67	Y>H		No	ClinGen gnomAD
CA350252064 rs1574808329	72	L>P		No	ClinGen Ensembl
rs1233420263 CA350252026	74	G>R		No	ClinGen gnomAD
rs765722754 CA2047761	75	E>K		No	ClinGen ExAC TOPMed gnomAD
rs760106159 CA2047760	76	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1224351673 CA350251945	77	Q>*		No	ClinGen gnomAD
rs372963779 CA2047758	77	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA350251916 rs1286825805	78	I>S		No	ClinGen TOPMed gnomAD
rs547301026 CA2047757	80	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs779358062 CA63801365	81	D>G		No	ClinGen TOPMed
CA63801363 rs779358062	81	D>V		No	ClinGen TOPMed
CA2047756 rs377067002	85	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA2047755 rs146525246	85	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs146525246 CA63801343	85	R>L		No	ClinGen ESP ExAC gnomAD
rs748251053 CA2047753	86	I>M		No	ClinGen ExAC TOPMed gnomAD
rs774628683 COSM209500 CA2047752	87	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs529108078 CA2047751	89	Q>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2047750 rs749286710	90	E>G		No	ClinGen ExAC gnomAD
rs1185392292 CA350251440	97	I>S		No	ClinGen gnomAD
CA350251408 rs1239272893	99	Y>H		No	ClinGen gnomAD
CA63801299 rs999897686	107	L>*		No	ClinGen TOPMed gnomAD
CA2047745 rs756964588	109	N>S		No	ClinGen ExAC gnomAD
rs1559186341 CA350250950	113	T>S		No	ClinGen Ensembl
rs1227098808 CA350250821	115	S>F		No	ClinGen gnomAD
CA2047742 rs531060357	117	R>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1559186324 CA350250719	118	S>A		No	ClinGen Ensembl
rs766614160 CA2047740	120	I>T		No	ClinGen ExAC TOPMed gnomAD
CA2047741 rs563650713	120	I>V		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	121	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	121	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA63801286 rs368729799	121	E>Q		No	ClinGen ESP TOPMed
CA350250567 rs1559186311	123	K>R		No	ClinGen Ensembl
CA350250509 rs1559186300	124	K>R		No	ClinGen Ensembl
rs1559186306	124	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2047722 rs754234009	125	A>P		No	ClinGen ExAC TOPMed gnomAD
CA350248473 rs754234009	125	A>S		No	ClinGen ExAC TOPMed gnomAD
rs780625712 CA2047721	127	T>R		No	ClinGen ExAC gnomAD
CA2047720 rs756635868	128	D>E		No	ClinGen ExAC gnomAD
CA350248134 rs1205071120	138	N>K		No	ClinGen gnomAD
CA350248143 rs1270150507	138	N>S		No	ClinGen gnomAD
CA350248136 rs1270150507	138	N>T		No	ClinGen gnomAD
rs1482395479 CA350248082	140	P>L		No	ClinGen gnomAD
rs1019672324 CA63794243	140	P>S		No	ClinGen TOPMed
CA63794231 rs576375930	141	T>A		No	ClinGen Ensembl
CA2047719 rs750812098	142	V>G		No	ClinGen ExAC gnomAD
CA63794206 rs561260111	144	V>F		No	ClinGen 1000Genomes
rs1276536813 CA350247978	146	H>R		No	ClinGen gnomAD
rs143338294 CA2047718	147	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1217203647 CA350247942	148	L>R		No	ClinGen gnomAD
rs1443330016 CA350247946	148	L>V		No	ClinGen TOPMed
CA350247903 rs1185852297	150	T>I		No	ClinGen TOPMed
TCGA novel	151	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350247897 rs1574802654	151	S>P		No	ClinGen Ensembl
rs1409118637 CA350247863	153	A>G		No	ClinGen gnomAD
rs896893557 CA63794197	153	A>T		No	ClinGen TOPMed gnomAD
rs762104341 CA2047716	154	S>N		No	ClinGen ExAC
CA2047715 rs751849802	157	S>N		No	ClinGen ExAC gnomAD
CA350247716 rs1574802625	158	R>K		No	ClinGen Ensembl
TCGA novel	158	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1462584900 CA350247688	159	I>S		No	ClinGen gnomAD
rs764036088 CA2047714	159	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1377228952 CA350247662	160	I>F		No	ClinGen gnomAD
CA63794182 rs112515338	161	G>S		No	ClinGen Ensembl
rs1174230490 CA350247602	162	V>A		No	ClinGen TOPMed gnomAD
CA2047712 rs201517493	166	K>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1172196973 CA350247468	167	T>A		No	ClinGen TOPMed
CA63794160 rs1032508406	168	D>G		No	ClinGen TOPMed gnomAD
CA350247393 rs1254636676	170	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs111895518 CA63794125	171	D>A		No	ClinGen Ensembl
rs189727026 CA2047709	172	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1414530673 CA350247336	173	I>S		No	ClinGen gnomAD
rs770735683 CA2047708	173	I>V		No	ClinGen ExAC gnomAD
CA350247310 rs1207580080	175	K>*		No	ClinGen gnomAD
CA350247286 rs1447335061	176	Q>R		No	ClinGen TOPMed
rs771427289 CA2047705	181	I>S		No	ClinGen ExAC gnomAD
CA2047703 rs778352705	185	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1391975043 CA350246995	186	I>T		No	ClinGen gnomAD
CA350247003 COSM1631721 rs1346764624	186	I>V	liver [Cosmic]	No	ClinGen cosmic curated TOPMed
rs765040191 CA2047685	191	A>V		No	ClinGen ExAC TOPMed gnomAD
CA350246546 rs1339856429	192	G>E		No	ClinGen TOPMed gnomAD
TCGA novel	192	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2047682 rs746332129	193	N>K		No	ClinGen ExAC gnomAD
CA2047681 rs781764792	194	N>K		No	ClinGen ExAC TOPMed gnomAD
CA2047680 rs757635513	195	V>I		No	ClinGen ExAC gnomAD
rs1453173188 CA350246361	198	I>V		No	ClinGen TOPMed
CA2047679 rs560977658	200	S>C		No	ClinGen 1000Genomes ExAC gnomAD
CA63792934 rs761845722	201	Y>C		No	ClinGen Ensembl
rs778041918 CA2047678	204	V>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	204	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350246114 rs1574801436	207	L>F		No	ClinGen Ensembl
CA350246121 rs1559183355	207	L>W		No	ClinGen Ensembl
rs1253206079 CA350246106	208	K>E		No	ClinGen gnomAD
rs752889849 CA2047676	211	M>L		No	ClinGen ExAC TOPMed gnomAD
rs765320688 CA2047674	212	D>E		No	ClinGen ExAC gnomAD
rs1333197525 CA350246010	213	A>V		No	ClinGen TOPMed
CA350245961 rs1454476892	215	D>G		No	ClinGen TOPMed
rs897534285 CA63792909	215	D>N		No	ClinGen TOPMed
rs148937801 CA2047673	216	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs766292213 CA2047671	217	W>C		No	ClinGen ExAC TOPMed gnomAD
CA2047672 rs753718907	217	W>R		No	ClinGen ExAC gnomAD
CA350245921 rs1263562263	217	W>S		No	ClinGen gnomAD
CA63792895 rs1009121361	219	G>R		No	ClinGen TOPMed
CA350245839 rs1280918522	221	G>C		No	ClinGen TOPMed
rs1370529536 CA350244366	224	Y>*		No	ClinGen gnomAD
rs761513336 CA2047648	224	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA2047647 rs751163160	225	W>R		No	ClinGen ExAC TOPMed gnomAD
rs769455001 CA2047643	226	R>P		No	ClinGen ExAC TOPMed gnomAD
rs769455001 CA2047644	226	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs202096745 CA2047646	226	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA63789211 rs112932012	227	V>A		No	ClinGen ExAC gnomAD
rs112932012 CA2047641	227	V>G		No	ClinGen ExAC gnomAD
CA2047642 rs761208197	227	V>M		No	ClinGen ExAC TOPMed gnomAD
rs772424911 CA2047640	228	P>A		No	ClinGen ExAC gnomAD
rs772424911 CA350244350	228	P>S		No	ClinGen ExAC gnomAD
rs779402868 CA2047638	229	H>P		No	ClinGen ExAC gnomAD
CA350244343 rs779402868	229	H>R		No	ClinGen ExAC gnomAD
TCGA novel	230	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2047637 rs768832472	231	L>P		No	ClinGen ExAC gnomAD
CA2047635 rs780059272	232	I>T		No	ClinGen ExAC gnomAD
CA2047636 rs749559061	232	I>V		No	ClinGen ExAC TOPMed gnomAD
CA2047634 rs756217145	233	E>Q		No	ClinGen ExAC gnomAD
TCGA novel	233	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350244313 rs1412828915	234	C>G		No	ClinGen TOPMed
rs1003464438 CA63789174	234	C>W		No	ClinGen TOPMed gnomAD
rs1167067376 CA350244307	235	W>R		No	ClinGen TOPMed
CA2047633 rs750303948	237	L>P		No	ClinGen ExAC gnomAD
rs1055931630 CA63789158	239	E>D		No	ClinGen TOPMed gnomAD
CA2047631 rs757274344	239	E>G		No	ClinGen ExAC gnomAD
rs1287019812 CA350244274	240	R>Q		No	ClinGen TOPMed gnomAD
CA2047630 rs377566618	240	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA63789152 rs888680298	241	P>T		No	ClinGen TOPMed
CA63789122 rs765668334	242	L>F		No	ClinGen Ensembl
rs762649444 CA2047628	242	L>S		No	ClinGen ExAC gnomAD
CA2047626 rs752431948	245	S>G		No	ClinGen ExAC TOPMed gnomAD
CA2047624 rs758982580	247	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs776263342 CA2047623 COSM1211686	247	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs772454771 CA2047622	248	H>R		No	ClinGen ExAC gnomAD
rs762424043 CA2047621	249	M>T		No	ClinGen ExAC gnomAD
rs1233505199 CA350244208	251	P>L		No	ClinGen gnomAD
CA2047620 rs146790839	251	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2047618 rs749471099	252	I>V		No	ClinGen ExAC gnomAD
CA2047617 rs780260009	253	R>*		No	ClinGen ExAC TOPMed gnomAD
CA350244198 rs1204645688	253	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2047616 rs769849868	254	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1448907642 CA350244188	255	R>M		No	ClinGen TOPMed
rs374611164 CA2047593 COSM1211685	256	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1387148391 CA350243567 COSM1530043	256	R>Q	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs370973122 CA2047592	258	I>M		No	ClinGen ESP ExAC gnomAD
CA2047591 rs777866408	259	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1450163910 CA350243509	261	N>D		No	ClinGen gnomAD
CA2047589 rs747956684	261	N>S		No	ClinGen ExAC TOPMed gnomAD
rs115629407 CA2047588 COSM287160	263	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA2047584 rs376356569	265	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA2047583 rs376356569	265	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs764570627 CA2047582	266	S>R		No	ClinGen ExAC gnomAD
rs1246121332 CA350243420	266	S>R		No	ClinGen gnomAD
CA2047579 rs765680919	269	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA63786722 rs1002347034	270	K>E		No	ClinGen Ensembl
rs1282465023 CA350243348	272	G>D		No	ClinGen gnomAD
CA2047578 rs569631375	272	G>S		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	274	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1009532746 CA63786698	278	F>L		No	ClinGen TOPMed
rs770858936 CA2047576	280	G>D		No	ClinGen ExAC gnomAD
CA2047573 rs372891645	283	T>S		No	ClinGen ExAC TOPMed gnomAD
rs778520508 CA350243177	286	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs778520508 CA2047571	286	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA350243145 rs1458410284	288	K>I		No	ClinGen TOPMed
rs1197767476 CA350243139	289	V>I		No	ClinGen gnomAD
CA2047569 rs748821162	291	N>I		No	ClinGen ExAC gnomAD
rs370941047 CA2047568	292	S>L		No	ClinGen ExAC TOPMed gnomAD
CA350243086 rs1249182499	293	A>T		No	ClinGen gnomAD
CA350243073 rs1432509274	294	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA350243077 rs1206167975	294	S>P		No	ClinGen gnomAD
CA2047565 rs780719949	296	T>M		No	ClinGen ExAC TOPMed gnomAD
CA2047563 rs149091190	297	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1574793763 CA350243031	298	S>P		No	ClinGen Ensembl
rs200202417 CA2047561	300	A>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1045274395 CA63786583	301	S>G		No	ClinGen TOPMed
rs1371266997 CA350242968	303	I>V		No	ClinGen gnomAD
rs1462662643 CA350242932	305	T>M		No	ClinGen gnomAD
rs975489651 CA63786571	306	S>L		No	ClinGen Ensembl
rs964181885 CA63786565	307	A>G		No	ClinGen TOPMed gnomAD
rs964181885 CA350242912	307	A>V		No	ClinGen TOPMed gnomAD
CA2047556 rs543025211	309	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs761799873 CA2047555	310	T>R		No	ClinGen ExAC gnomAD
rs774347784 CA2047554	311	A>T		No	ClinGen ExAC gnomAD
rs768275163 CA2047553	312	N>D		No	ClinGen ExAC gnomAD
CA350242850 rs1480731007	313	R>P		No	ClinGen TOPMed gnomAD
rs185813104 CA350242853	313	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1574793599 CA350242842	314	F>V		No	ClinGen Ensembl
rs1574793594 CA350242829	315	Q>K		No	ClinGen Ensembl
CA2047551 rs779779147	315	Q>P		No	ClinGen ExAC gnomAD
rs760876279 CA2047550	316	S>G		No	ClinGen ExAC TOPMed gnomAD
rs745567181 CA2047549	317	G>V		No	ClinGen ExAC gnomAD
CA63786518 rs979079956	318	S>G		No	ClinGen Ensembl
CA350242776 rs1263598035	318	S>R		No	ClinGen gnomAD
CA2047548 rs761369148	319	R>C		No	ClinGen ExAC TOPMed gnomAD
rs201870494 CA2047546	319	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed
rs201870494 CA2047547	319	R>L		No	ClinGen 1000Genomes ExAC TOPMed
rs1315104337 CA350242755	320	R>K		No	ClinGen gnomAD
rs147353210 CA2047544	322	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA350242679 rs1476816881	324	Q>*		No	ClinGen TOPMed
rs779463028 CA2047543	325	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2047542 rs754204639	325	R>H		No	ClinGen ExAC gnomAD
rs754204639 CA2047541	325	R>P		No	ClinGen ExAC gnomAD
rs931785255 CA63786473	327	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA2047538 rs760932856	330	R>G		No	ClinGen ExAC gnomAD
CA63786467 COSM3695185 rs199722039	332	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed gnomAD
rs767635791 CA2047536	333	A>T		No	ClinGen ExAC gnomAD
VAR_027355 CA2047535 rs13018579	333	A>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000956026 VAR_027356 CA2047533 rs10203154	336	G>C		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA350242363 rs10203154	336	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2047532 rs762837663	337	T>M		No	ClinGen ExAC gnomAD
CA2047530 rs745459410	339	A>P		No	ClinGen ExAC TOPMed gnomAD
CA2047529 rs745459410	339	A>S		No	ClinGen ExAC TOPMed gnomAD
CA2047528 rs780836873	339	A>V		No	ClinGen ExAC gnomAD
CA350241669 rs1559180062	340	P>R		No	ClinGen Ensembl
rs1262439161 CA350241674	340	P>S		No	ClinGen TOPMed gnomAD
rs1287920054 CA350241621	343	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs150419396 CA2047525	349	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1318023625 CA350241495	350	A>V		No	ClinGen TOPMed gnomAD
CA2047522 rs536670939	352	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs756549001 CA2047521	354	N>D		No	ClinGen ExAC gnomAD
rs1384057814 CA350241396	356	G>D		No	ClinGen gnomAD
CA2047517 rs551272636	358	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs374734919 CA2047516	360	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs775436756 CA2047514	360	P>L		No	ClinGen ExAC gnomAD
CA2047515 rs374734919	360	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1451048649 CA350241307	361	P>R		No	ClinGen Ensembl
rs144995654 CA2047511	362	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2047512 rs371332768	362	A>T		No	ClinGen ESP ExAC gnomAD
rs144995654 CA350241298	362	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs746693054 CA2047509	363	K>N		No	ClinGen ExAC gnomAD
CA2047510 rs770539750	363	K>T		No	ClinGen ExAC gnomAD
rs1224862057 CA350241291	364	V>M		No	ClinGen gnomAD
rs544740071 CA63786322	366	L>F		No	ClinGen gnomAD
CA350241273 rs1302584200	367	S>A		No	ClinGen gnomAD
CA350241270 rs1360377501	367	S>F		No	ClinGen gnomAD
CA350241251 rs1225614167	369	K>Q		No	ClinGen gnomAD
rs1328555545 CA350241240	369	K>R		No	ClinGen gnomAD
CA350241213 rs1559179962	370	K>N		No	ClinGen Ensembl
rs771515200 CA2047507	370	K>R		No	ClinGen ExAC gnomAD
rs749734136 CA2047506	371	P>L		No	ClinGen ExAC gnomAD
rs780718402 CA2047505	373	P>L		No	ClinGen ExAC gnomAD
CA63786300 rs1015165907	374	Q>K		No	ClinGen TOPMed
rs933969594 CA63786298	375	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs746227530 CA2047503	377	I>M		No	ClinGen ExAC gnomAD
rs781718983 CA2047502	378	K>R		No	ClinGen ExAC gnomAD
CA2047501 rs757478965	379	L>P		No	ClinGen ExAC gnomAD
rs1298049415 CA350241141	379	L>V		No	ClinGen TOPMed
CA2047500 rs142159452	380	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149892461 CA2047499	382	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1480047831 CA350241114	383	P>L		No	ClinGen TOPMed gnomAD
rs1272459335 CA350241106	385	C>G		No	ClinGen gnomAD
CA63786245 rs768582753	385	C>Y		No	ClinGen Ensembl
rs200313964 COSM123880 CA2047493	386	A>T	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs565245989 RCV000956631	387	T>missing		No	ClinVar dbSNP
rs760337532 CA2047492	387	T>I		No	ClinGen ExAC TOPMed gnomAD
CA350241096 rs1259072930	387	T>P		No	ClinGen TOPMed gnomAD
rs372353449 CA2047490	388	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs368312102 COSM3695184 CA2047489	388	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs770389790 CA2047487	389	P>S		No	ClinGen ExAC TOPMed gnomAD
rs3795969 CA2047484 VAR_027357	390	C>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA350241072 rs1402989903	391	L>P		No	ClinGen TOPMed
rs1574792957 CA350241063	393	S>P		No	ClinGen Ensembl
CA2047481 rs771228916	393	S>Y		No	ClinGen ExAC gnomAD
rs1427029705 CA350241057	394	P>S		No	ClinGen TOPMed gnomAD
rs752742119 CA2047477	395	T>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	395	T>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754864975 CA350241045	396	A>D		No	ClinGen ExAC gnomAD
rs1179796743 CA350241048	396	A>T		No	ClinGen gnomAD
rs754864975 CA2047475	396	A>V		No	ClinGen ExAC gnomAD
rs372450231 CA2047474	397	T>M		No	ClinGen ExAC gnomAD
rs372450231 CA350241039	397	T>R		No	ClinGen ExAC gnomAD
CA350241032 rs1321850544	398	R>S		No	ClinGen gnomAD
rs766133705 CA2047472	399	Q>*		No	ClinGen ExAC gnomAD
CA350241026 rs1374984407	399	Q>H		No	ClinGen TOPMed
CA350241031 rs766133705	399	Q>K		No	ClinGen ExAC gnomAD
CA350241022 rs1220298562	400	A>T		No	ClinGen gnomAD
rs750287690 CA2047470	401	N>K		No	ClinGen ExAC TOPMed gnomAD
rs760403787 CA2047471	401	N>S		No	ClinGen ExAC gnomAD
CA350240997 rs1309768958	402	S>C		No	ClinGen TOPMed
CA2047469 rs767068694	403	L>V		No	ClinGen ExAC gnomAD
CA2047468 rs761595253	404	K>R		No	ClinGen ExAC gnomAD
CA2047466 rs375338557	405	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs375338557 CA2047467	405	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs927913109 CA63786107	406	L>V		No	ClinGen TOPMed gnomAD
CA2047462 rs201465092	407	P>L		No	ClinGen ExAC
CA2047463 rs771527815	407	P>T		No	ClinGen ExAC gnomAD
CA350240928 rs374689283	408	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA350240935 rs1559179747	408	G>S	Variant assessed as Somatic; 4.646e-05 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA2047458 rs374689283	408	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA350240911 rs1471203664	409	E>D		No	ClinGen gnomAD
rs755058006 CA2047456	411	A>P		No	ClinGen ExAC TOPMed gnomAD
CA2047454 rs779839986	412	R>C		No	ClinGen ExAC TOPMed gnomAD
rs779839986 CA350240883	412	R>G		No	ClinGen ExAC TOPMed gnomAD
CA350240874 rs1425098314	412	R>P		No	ClinGen TOPMed
CA63786062 rs779839986	412	R>S		No	ClinGen ExAC TOPMed gnomAD
VAR_027358 rs10203042 CA2047452 RCV000956025	413	A>V		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1282789783 CA350240835	415	G>A		No	ClinGen gnomAD
CA2047451 rs750150880	417	R>L		No	ClinGen ExAC gnomAD
rs767391260 CA2047450	420	N>K		No	ClinGen ExAC TOPMed
CA2047449 rs761507613	422	K>R		No	ClinGen ExAC TOPMed gnomAD
rs763628451 CA2047447	427	N>R		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q6PI47

2 regional properties for Q6PI47

Type	Name	Position	InterPro Accession
domain	Potassium channel tetramerisation-type BTB domain	14 - 98	IPR003131
domain	BTB/POZ domain-containing protein KCTD18, C-terminal domain	114 - 425	IPR045704

Functions

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

No GO annotations of cellular component

Name	Definition
No GO annotations for cellular component

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

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
A6H6X4	KCTD4	BTB/POZ domain-containing protein KCTD4	Bos taurus (Bovine)	PR
Q29RJ0	KCTD18	BTB/POZ domain-containing protein KCTD18	Bos taurus (Bovine)	PR
Q96CX2	KCTD12	BTB/POZ domain-containing protein KCTD12	Homo sapiens (Human)	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
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
MEGHKAEEEV	LDVLRLNVGG	CIYTARRESL	CRFKDSMLAS	MFSGRFPLKT	DESGACVIDR
70	80	90	100	110	120
DGRLFKYLLD	YLHGEVQIPT	DEQTRIALQE	EADYFGIPYP	YSLSDHLANE	METYSLRSNI
130	140	150	160	170	180
ELKKALTDFC	DSYGLVCNKP	TVWVLHYLNT	SGASCESRII	GVYATKTDGT	DAIEKQLGGR
190	200	210	220	230	240
IHSKGIFKRE	AGNNVQYIWS	YYSVAELKKM	MDAFDAWEGK	GVSYWRVPHE	LIECWTLEER
250	260	270	280	290	300
PLLGSLRHMA	PIRKRRLITF	NEADESVNYK	TGPKPVRFLG	PSTSTQIKVK	NSASVTVSPA
310	320	330	340	350	360
SAIQTSAGAT	ANRFQSGSRR	KAAQRSAPSR	ATALVGTGAP	GHPQASPGAA	SAENGGTHLP
370	380	390	400	410	420
PAKVLLSDKK	PTPQRVIKLK	RTPLCATAPC	LPSPTATRQA	NSLKPLPGEA	ARALGVRTEN

GKNKGN