AiPD: Autoinhibited Protein Database

O00139

Gene name	KIF2A (KIF2, KNS2)
Protein name	Kinesin-like protein KIF2A
Names	Kinesin-2, hK2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:3796
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

41-245 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

41-245 (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 O00139

Entry ID	Method	Resolution	Chain	Position	Source
2GRY	X-ray	235 A	A	153-553	PDB
6BBN	X-ray	351 A	E	153-553	PDB
AF-O00139-F1	Predicted				AlphaFoldDB

272 variants for O00139

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA3278669 rs552269440 RCV003117685 RCV001252808	7	G>R	Microcephaly [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001195996 rs1747612077	28	M>V	Complex cortical dysplasia with other brain malformations 3 [ClinVar]	Yes	ClinVar dbSNP
RCV001333752 rs1747667870	73	E>K	Complex cortical dysplasia with other brain malformations 3 [ClinVar]	Yes	ClinVar dbSNP
TCGA novel rs1580059038 RCV000985176 CA359948670	95	R>*	Complex cortical dysplasia with other brain malformations 3 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar NCI-TCGA Ensembl dbSNP
RCV000921097 rs138408434 RCV000627065 CA3278773	128	S>P	Complex cortical dysplasia with other brain malformations 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000708562 rs1561273261 CA359950403 RCV001377985	313	G>E	Complex cortical dysplasia with other brain malformations 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000055624 rs587777034 VAR_070575 RCV001388402 CA144768	317	S>N	Complex cortical dysplasia with other brain malformations 3 CDCBM3; results in abnormal cellular localization with predominant decoration of microtubules rather than diffuse punctiform cytoplasmic and nuclear distribution as observed for wild-type protein [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1554042050 CA359950452 RCV000501043	320	T>I	Complex cortical dysplasia with other brain malformations 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA144766 VAR_070576 RCV000055623 rs587777033	321	H>D	Complex cortical dysplasia with other brain malformations 3 CDCBM3; results in abnormal cellular localization with predominant decoration of microtubules rather than diffuse punctiform cytoplasmic and nuclear distribution as observed for wild-type protein [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
rs754604635 CA3278991 RCV000624330	498	N>S	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000962124 rs61748225 CA3279109 RCV000603646 RCV002491240	644	A>T	Complex cortical dysplasia with other brain malformations 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3278667 rs765801970	3	T>A		No	ClinGen ExAC TOPMed gnomAD
CA359949999 rs367659703	3	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs367659703 CA3278668	3	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs866170708 CA120075727	4	A>T		No	ClinGen Ensembl
rs1486350001 CA359950016	5	N>D		No	ClinGen gnomAD
CA359950029 rs1196272138	5	N>K		No	ClinGen gnomAD
rs917841116 CA120075728	5	N>S		No	ClinGen TOPMed gnomAD
CA120075729 rs949266059	6	F>S		No	ClinGen Ensembl
rs1208355269 CA359950052	7	G>D		No	ClinGen TOPMed
rs552269440 CA359950050	7	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs972154930 CA359950059	8	K>E		No	ClinGen TOPMed gnomAD
CA359950071 rs1166313686	8	K>N		No	ClinGen gnomAD
CA120075730 rs972154930	8	K>Q		No	ClinGen TOPMed gnomAD
rs1235554378 CA359950073	9	I>L		No	ClinGen TOPMed
rs1235554378 CA359950075	9	I>V		No	ClinGen TOPMed
CA359950090 rs1415260207	10	Q>E		No	ClinGen TOPMed gnomAD
CA3278670 rs571541885	10	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
rs1410948931 CA359950115	11	I>M		No	ClinGen TOPMed
rs752517127 CA3278671	12	G>E		No	ClinGen ExAC TOPMed gnomAD
CA359950168 rs1403034431	16	E>K		No	ClinGen TOPMed
rs1310811982 CA359950235	21	D>N		No	ClinGen gnomAD
CA120075731 rs867808267	22	G>S		No	ClinGen Ensembl
CA359948202 rs1276930329	29	V>I		No	ClinGen TOPMed gnomAD
CA3278688 rs765160141	30	T>I		No	ClinGen ExAC
rs150192070 CA3278690	35	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs925638530 CA120080272	36	N>S		No	ClinGen TOPMed gnomAD
CA3278691 rs546664729	37	E>G		No	ClinGen 1000Genomes ExAC gnomAD
rs751850670 CA3278692	38	S>N		No	ClinGen ExAC gnomAD
rs922141597 CA120080273	39	V>I		No	ClinGen TOPMed gnomAD
TCGA novel	55	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751337612 CA3278715	56	L>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	56	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM738432 CA3278716 rs757038674	58	S>N	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs767638932 COSM1486888 CA3278717	61	S>L	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs138676317 CA120080351	64	P>S		No	ClinGen ESP
rs73102041 RCV000437514 CA3278718 RCV000888099	65	D>E		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs756321886 CA3278719	66	L>F		No	ClinGen ExAC gnomAD
rs780248688 CA3278720	68	P>A		No	ClinGen ExAC gnomAD
rs749857734 CA3278721	69	D>V		No	ClinGen ExAC gnomAD
CA359948513 rs1293218793	72	I>S		No	ClinGen TOPMed gnomAD
CA359948512 rs1293218793	72	I>T		No	ClinGen TOPMed gnomAD
CA3278723 rs779434615	74	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1258484187 COSM1069235 CA359948527	74	P>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
RCV000929817 CA3278724 RCV000440374 rs748463159	76	P>T		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
TCGA novel	80	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs571500254 CA3278726	80	P>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1484573099 CA359948568	81	P>S		No	ClinGen TOPMed gnomAD
CA3278727 rs3194481	83	A>S		No	ClinGen ESP ExAC gnomAD
CA3278728 rs769337181	85	S>A		No	ClinGen ExAC gnomAD
TCGA novel	86	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774962082 CA3278729	88	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1425539658 CA359948608	88	V>I		No	ClinGen gnomAD
rs774278609 CA3278732	92	V>I		No	ClinGen ExAC gnomAD
CA359948672 rs1296969890	95	R>Q		No	ClinGen gnomAD
rs1007319532 CA120080518 COSM193475	96	R>Q	Variant assessed as Somatic; 4.753e-05 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA359948674 rs1398830350	96	R>W		No	ClinGen TOPMed gnomAD
CA120080519 rs185454811	100	S>C		No	ClinGen 1000Genomes gnomAD
rs1037192611 CA120080520	104	D>E		No	ClinGen Ensembl
CA359948732 rs1233155974	105	P>T		No	ClinGen gnomAD
rs1204558128 CA359948751	108	R>K		No	ClinGen TOPMed
rs774215921 CA3278753	112	V>M		No	ClinGen ExAC gnomAD
rs1274890324 CA359948798	113	V>F		No	ClinGen TOPMed
rs1229237874 CA359948807	114	G>A		No	ClinGen TOPMed
rs1220425782 COSM4159926 CA359948822	117	R>C	thyroid [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1260020552 CA359948823	117	R>H		No	ClinGen gnomAD
rs372617073 CA3278769	119	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1467202590 CA359948833	119	R>W		No	ClinGen TOPMed gnomAD
CA359948843 rs1247503072	121	S>G		No	ClinGen TOPMed gnomAD
CA359948842 rs1247503072	121	S>R		No	ClinGen TOPMed gnomAD
rs779695634 CA3278770	122	Q>R		No	ClinGen ExAC
CA3278772 rs768119919	126	Q>P		No	ClinGen ExAC gnomAD
CA120080777 rs902087674	127	S>P		No	ClinGen Ensembl
rs772165829 CA3278775	130	A>T		No	ClinGen ExAC gnomAD
TCGA novel	132	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3278776 rs773217410	134	G>V		No	ClinGen ExAC gnomAD
CA359948944 rs1428261413	135	S>N		No	ClinGen gnomAD
TCGA novel	138	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760558762 COSM1620444 CA3278777	141	P>L	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA120080779 rs886079916	143	Q>P		No	ClinGen Ensembl
CA359948998 rs1340919447	144	A>T		No	ClinGen gnomAD
CA3278778 rs770833204	146	K>E		No	ClinGen ExAC gnomAD
TCGA novel	147	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	149	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359949047 rs1456629507	151	P>T		No	ClinGen TOPMed
rs759771074 CA3278780	152	P>A		No	ClinGen ExAC TOPMed gnomAD
rs759771074 CA359949053	152	P>T		No	ClinGen ExAC TOPMed gnomAD
rs747697385 CA3278792	154	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1219221959 CA359949078	154	R>H		No	ClinGen gnomAD
CA359949113 rs1276997199	159	C>Y		No	ClinGen TOPMed gnomAD
TCGA novel	169	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757923895 CA3278793	171	E>Q		No	ClinGen ExAC gnomAD
CA359949205 rs1238643590	172	K>E		No	ClinGen gnomAD
TCGA novel	174	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	181	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1177534801	184	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1441214697 CA359949304	185	A>G		No	ClinGen gnomAD
rs1380512070 CA359949302	185	A>S		No	ClinGen gnomAD
rs1330714767	187	D>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
RCV000520527 CA3278815 rs777382535	188	V>I		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA3278816 rs746988250	192	N>H		No	ClinGen ExAC gnomAD
TCGA novel	194	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1330803835 CA359949375	194	N>T		No	ClinGen gnomAD
rs1327237342 CA359949381	195	Y>H		No	ClinGen TOPMed
TCGA novel	203	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359949490 rs1561269774	209	D>G		No	ClinGen Ensembl
CA3278820 rs769421818	209	D>N		No	ClinGen ExAC TOPMed gnomAD
CA120080996 rs899137288	210	Y>C		No	ClinGen Ensembl
rs1319399388 CA359949528	215	T>A		No	ClinGen gnomAD
CA359949538 rs1207626479	216	A>V		No	ClinGen gnomAD
rs143966710 CA3278822	218	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1356565525 CA359949589	222	H>Y		No	ClinGen gnomAD
CA3278836 rs781206641	223	R>S		No	ClinGen ExAC gnomAD
rs750318761 CA3278838	231	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	237	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA120081272 rs561322134	238	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs561322134 CA3278860	238	T>S		No	ClinGen 1000Genomes ExAC gnomAD
COSM1212453 rs1580071120 CA359949742	242	D>Y	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
CA3278863 rs748314027	246	I>M		No	ClinGen ExAC gnomAD
CA120081273 rs1002650078	252	D>E		No	ClinGen TOPMed
rs747058644 CA3278866	257	H>R		No	ClinGen ExAC gnomAD
CA3278869 rs759996312	272	Q>E		No	ClinGen ExAC gnomAD
rs1375651707 COSM224281 CA359949986	275	R>C	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
TCGA novel	281	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1311115304 CA359950089	282	D>E		No	ClinGen gnomAD
rs1232353083 CA359950126	285	P>L		No	ClinGen gnomAD
TCGA novel	288	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	289	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3278881 rs764986275	291	R>S		No	ClinGen ExAC gnomAD
TCGA novel	293	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359950318 rs1398039687	301	I>T		No	ClinGen TOPMed
rs867833640 CA120081578	301	I>V		No	ClinGen Ensembl
rs1748391389 RCV001255030	303	E>K		No	ClinVar dbSNP
CA359950340 rs1561273239	304	R>T		No	ClinGen Ensembl
CA3278883 rs758569102	305	G>V		No	ClinGen ExAC gnomAD
CA359950432 rs1580075677	317	S>R		No	ClinGen Ensembl
CA359950454 rs587777033	321	H>Y		No	ClinGen gnomAD
rs752464946 CA3278899	326	D>E		No	ClinGen ExAC gnomAD
rs1221139550 CA359950499	326	D>Y		No	ClinGen gnomAD
rs958348972 CA120081590	331	N>S		No	ClinGen TOPMed gnomAD
CA359950586 rs1229150927	338	I>V		No	ClinGen TOPMed
rs758143705 CA3278900	342	A>T		No	ClinGen ExAC TOPMed gnomAD
rs868477495 CA120081667	344	R>L		No	ClinGen Ensembl
rs1210823198 CA359950646	345	D>E		No	ClinGen gnomAD
CA120081668 rs184854117	349	M>I		No	ClinGen 1000Genomes
rs1480810000 CA359950680	350	L>R		No	ClinGen TOPMed
rs867546096 CA120081669	351	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3278922 rs767803536	351	K>R		No	ClinGen ExAC gnomAD
rs368021683 CA3278923	355	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA359950721 rs1385212736	356	K>R		No	ClinGen gnomAD
CA120081670 rs925748363	359	E>D		No	ClinGen Ensembl
CA359950770 rs1238277530	363	Y>F		No	ClinGen gnomAD
CA359950780 rs1242846187	365	T>A		No	ClinGen TOPMed
TCGA novel	373	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3278936 rs768385599	380	R>K		No	ClinGen ExAC gnomAD
rs767859496 CA3278939	382	T>I		No	ClinGen ExAC gnomAD
TCGA novel	392	Q>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766447107 CA3278942	394	V>I		No	ClinGen ExAC gnomAD
rs754348400 CA3278943	402	R>Q		No	ClinGen ExAC gnomAD
CA120081746 rs111864686	402	R>W		No	ClinGen TOPMed
CA3278944 rs755527027	404	V>A		No	ClinGen ExAC gnomAD
CA3278945 rs779248435	406	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs371821790 CA120081748	409	D>N		No	ClinGen ESP TOPMed
CA359951105 rs1464122593	410	V>I		No	ClinGen gnomAD
rs1411894581 CA359951151	416	I>M		No	ClinGen gnomAD
CA359951163 rs1321929246	418	N>S		No	ClinGen gnomAD
TCGA novel	419	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359951213 rs1242069125	424	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
RCV000521852 rs1554042228 CA359951234	427	S>P		No	ClinGen ClinVar Ensembl dbSNP
CA359951263 rs1283227353	431	H>R		No	ClinGen gnomAD
CA359951280 rs1580079435	434	R>W		No	ClinGen Ensembl
TCGA novel	435	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	439	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359951357 rs1283657709	445	R>K		No	ClinGen gnomAD
rs1561274808 CA359951368	446	K>N		No	ClinGen Ensembl
rs1205655229 CA359951362	446	K>Q		No	ClinGen gnomAD
CA120081782 rs866426724	451	G>D		No	ClinGen Ensembl
TCGA novel	455	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776206212 CA120081783	468	S>F		No	ClinGen Ensembl
CA359951519 rs1459374015	469	S>G		No	ClinGen TOPMed
rs372239097 CA120081785	484	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA120081786 rs112761297	487	A>T		No	ClinGen Ensembl
rs938691382 CA120081928	493	R>K		No	ClinGen Ensembl
rs1053129651 CA120081929	494	A>S		No	ClinGen Ensembl
rs1402946368 CA359951727	497	R>G		No	ClinGen gnomAD
rs201066401 CA3278992	502	T>N		No	ClinGen 1000Genomes ExAC gnomAD
rs267600663 CA120081930	505	R>C		No	ClinGen Ensembl
CA359951792 rs1310318091	506	A>V		No	ClinGen gnomAD
CA359951849 rs1205718714	515	D>N		No	ClinGen gnomAD
TCGA novel	516	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770617593 CA3278997	518	I>T		No	ClinGen ExAC gnomAD
rs781542903 CA3278998	519	G>S		No	ClinGen ExAC TOPMed gnomAD
rs746047504 CA3278999	523	R>C		No	ClinGen ExAC gnomAD
CA359951944 rs1222284110	527	I>F		No	ClinGen gnomAD
rs867247832 CA120082029	535	A>T		No	ClinGen Ensembl
CA359952005 rs1481727417	536	S>F		No	ClinGen gnomAD
CA359821342 rs1233263818	557	P>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1471087520 CA359821349	558	T>A		No	ClinGen gnomAD
CA359821353 rs1189394916	558	T>I		No	ClinGen gnomAD
rs771417898 CA3279055	564	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs139442261 COSM3381282 CA3279056	564	R>H	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA3279057 rs370786223	566	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs778329813 CA119776175	566	I>M		No	ClinGen Ensembl
CA3279059 rs773766669	567	M>I		No	ClinGen ExAC gnomAD
CA3279058 rs750108492	567	M>R		No	ClinGen ExAC gnomAD
rs750108492 CA119776176	567	M>T		No	ClinGen ExAC gnomAD
rs761320629 CA3279061	568	H>P		No	ClinGen ExAC gnomAD
CA3279060 rs761320629	568	H>R		No	ClinGen ExAC gnomAD
CA359821426 rs1444894205	570	P>L		No	ClinGen gnomAD
rs1331898817 CA359821439	572	N>K		No	ClinGen TOPMed
rs1325703693 CA359821451	574	I>F		No	ClinGen TOPMed
CA3279063 rs141548628	574	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA3279064 rs766134070	576	D>E		No	ClinGen ExAC gnomAD
CA119776177 rs61750916	579	T>R		No	ClinGen Ensembl
CA3279065 rs754112220	580	Q>P		No	ClinGen ExAC gnomAD
rs755183498 CA3279066	581	W>*		No	ClinGen ExAC gnomAD
CA359821509 rs1273365993	582	G>A		No	ClinGen gnomAD
CA3279067 rs779121896	585	S>T		No	ClinGen ExAC gnomAD
CA3279068 CA359821548 rs748185496	588	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA3279070 rs778490530	595	L>P		No	ClinGen ExAC gnomAD
rs747484896 CA3279071	598	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	603	V>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752958193 CA3279085	603	V>I		No	ClinGen ExAC gnomAD
CA119776557 rs866488533	605	P>Q		No	ClinGen Ensembl
CA119776559 rs1052613653 COSM161985	612	E>K	NS [Cosmic]	No	ClinGen cosmic curated TOPMed
rs781738321 CA3279090	623	Q>E		No	ClinGen ExAC gnomAD
rs866581006 CA119776560	625	V>L		No	ClinGen Ensembl
CA359821848 rs1320818197	629	R>K		No	ClinGen TOPMed
CA359821864 rs1335167902	631	V>G		No	ClinGen gnomAD
CA3279105 rs763258220	636	I>V		No	ClinGen ExAC gnomAD
CA359821998 rs1195921358	637	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs764372768 CA3279106	637	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs751694383 CA3279108	640	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1340819916 CA359822030	640	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1183163237 CA359822042	641	D>H		No	ClinGen TOPMed gnomAD
rs61748225 CA3279110	644	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA359822132 rs1175132161	648	M>I		No	ClinGen TOPMed gnomAD
rs1335456929 CA359822138	649	T>N		No	ClinGen TOPMed
rs1467277470 CA359822160	651	E>V		No	ClinGen gnomAD
CA359822210 rs1561283120	655	D>N		No	ClinGen Ensembl
CA359822230 rs1296177376	656	V>A		No	ClinGen gnomAD
rs1309040593 CA359822393	666	I>T		No	ClinGen gnomAD
CA119776872 rs982416345	668	E>G		No	ClinGen Ensembl
rs756478314 CA3279112	672	D>E		No	ClinGen ExAC gnomAD
rs1561283155 CA359822509	674	L>F		No	ClinGen Ensembl
CA3279113 rs144092095	675	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3279114 rs370754960	675	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA359822522 rs1212521093	676	E>K		No	ClinGen gnomAD
COSM1069250 rs777345819 CA3279116	678	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs771712968 CA3279115	678	R>W		No	ClinGen ExAC gnomAD
CA359822800 rs1222410390	679	D>G		No	ClinGen gnomAD
rs1314600069 CA359822842	685	R>C		No	ClinGen TOPMed gnomAD
rs865783903 CA359822843	685	R>H		No	ClinGen gnomAD
rs865783903 CA119777362	685	R>L		No	ClinGen gnomAD
CA359822856 rs1260569794	687	A>V		No	ClinGen gnomAD
rs1460358579 CA359822866	689	Q>R		No	ClinGen TOPMed
TCGA novel	694	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359822940 rs1423841609	699	N>D		No	ClinGen gnomAD
CA359822952 rs1351592249	700	P>L		No	ClinGen TOPMed gnomAD
rs1002718601 CA119777364	704	R>C		No	ClinGen TOPMed gnomAD
CA3279143 rs780774764	704	R>H		No	ClinGen ExAC gnomAD
TCGA novel	704	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

1 associated diseases with O00139

[MIM: 615411]: Cortical dysplasia, complex, with other brain malformations 3 (CDCBM3)

A disorder of aberrant neuronal migration and disturbed axonal guidance. Clinical features include early-onset epilepsy, and various malformations of cortical development such as agyria, posterior or frontal pachygyria, subcortical band heterotopia, and thin corpus callosum. {ECO:0000269|PubMed:23603762}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A disorder of aberrant neuronal migration and disturbed axonal guidance. Clinical features include early-onset epilepsy, and various malformations of cortical development such as agyria, posterior or frontal pachygyria, subcortical band heterotopia, and thin corpus callosum. {ECO:0000269|PubMed:23603762}. Note=The disease is caused by variants affecting the gene represented in this entry.

2 regional properties for O00139

Type	Name	Position	InterPro Accession
domain	Kinesin motor domain	221 - 561	IPR001752
conserved_site	Kinesin motor domain, conserved site	451 - 462	IPR019821

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Cytoplasm, cytoskeleton, spindle pole Cytoplasm, cytoskeleton, spindle	Localized to the spindle microtubules and spindle poles from prophase to metaphase Efficient targeting to spindle microtubules and spindle poles requires the kinase activity of PLK1 Recruited to mitotic spindles by interaction with PSRC1
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

13 GO annotations of cellular component

Name	Definition
centriolar subdistal appendage	A protein complex which assembles on the mother centriole during cilium formation, adjacent and proximal to a centriolar distal appendage. In human, it contains ODF2, CNTRL, NIN, CCDC120c and CCDC68.
centriole	A cellular organelle, found close to the nucleus in many eukaryotic cells, consisting of a small cylinder with microtubular walls, 300-500 nm long and 150-250 nm in diameter. It contains nine short, parallel, peripheral microtubular fibrils, each fibril consisting of one complete microtubule fused to two incomplete microtubules. Cells usually have two centrioles, lying at right angles to each other. At division, each pair of centrioles generates another pair and the twin pairs form the pole of the mitotic spindle.
centrosome	A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
kinesin complex	Any complex that includes a dimer of molecules from the kinesin superfamily, a group of related proteins that contain an extended region of predicted alpha-helical coiled coil in the main chain that likely produces dimerization. The native complexes of several kinesin family members have also been shown to contain additional peptides, often designated light chains as all of the noncatalytic subunits that are currently known are smaller than the chain that contains the motor unit. Kinesin complexes generally possess a force-generating enzymatic activity, or motor, which converts the free energy of the gamma phosphate bond of ATP into mechanical work.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
microtubule	Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle.
nuclear body	Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins.
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
spindle	The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart.
spindle pole	Either of the ends of a spindle, where spindle microtubules are organized; usually contains a microtubule organizing center and accessory molecules, spindle microtubules and astral microtubules.

5 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity	Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient.
cytoskeletal motor activity	Generation of force resulting in movement, for example along a microfilament or microtubule, or in torque resulting in membrane scission or rotation of a flagellum. The energy required is obtained either from the hydrolysis of a nucleoside triphosphate or by an electrochemical proton gradient (proton-motive force).
microtubule binding	Binding to a microtubule, a filament composed of tubulin monomers.
microtubule motor activity	A motor activity that generates movement along a microtubule, driven by ATP hydrolysis.

9 GO annotations of biological process

Name	Definition
cell differentiation	The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.
cell division	The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells.
microtubule cytoskeleton organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins.
microtubule depolymerization	The removal of tubulin heterodimers from one or both ends of a microtubule.
microtubule-based movement	A microtubule-based process that results in the movement of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules.
mitotic spindle assembly	Mitotic bipolar spindle assembly begins with spindle microtubule nucleation from the separated spindle pole body, includes spindle elongation during prometaphase, and is complete when all kinetochores are stably attached the spindle, and the spindle assembly checkpoint is satisfied.
mitotic spindle organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the microtubule spindle during a mitotic cell cycle.
nervous system development	The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state.
regulation of cell migration	Any process that modulates the frequency, rate or extent of cell migration.

13 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q2NL05	KIF2A	Kinesin-like protein KIF2A	Bos taurus (Bovine)	PR
P33176	KIF5B	Kinesin-1 heavy chain	Homo sapiens (Human)	EV
O60282	KIF5C	Kinesin heavy chain isoform 5C	Homo sapiens (Human)	EV
Q12840	KIF5A	Kinesin heavy chain isoform 5A	Homo sapiens (Human)	EV
Q2M1P5	KIF7	Kinesin-like protein KIF7	Homo sapiens (Human)	EV
Q86VH2	KIF27	Kinesin-like protein KIF27	Homo sapiens (Human)	SS
Q7Z4S6	KIF21A	Kinesin-like protein KIF21A	Homo sapiens (Human)	EV
O75037	KIF21B	Kinesin-like protein KIF21B	Homo sapiens (Human)	EV
Q9P2E2	KIF17	Kinesin-like protein KIF17	Homo sapiens (Human)	EV
Q9NQT8	KIF13B	Kinesin-like protein KIF13B	Homo sapiens (Human)	EV
Q9H1H9	KIF13A	Kinesin-like protein KIF13A	Homo sapiens (Human)	SS
O43896	KIF1C	Kinesin-like protein KIF1C	Homo sapiens (Human)	SS
Q9WV63	Kif2a	Kinesin-like protein KIF2A	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MATANFGKIQ	IGIYVEIKRS	DGRIHQAMVT	SLNEDNESVT	VEWIENGDTK	GKEIDLESIF
70	80	90	100	110	120
SLNPDLVPDE	EIEPSPETPP	PPASSAKVNK	IVKNRRTVAS	IKNDPPSRDN	RVVGSARARP
130	140	150	160	170	180
SQFPEQSSSA	QQNGSVSDIS	PVQAAKKEFG	PPSRRKSNCV	KEVEKLQEKR	EKRRLQQQEL
190	200	210	220	230	240
REKRAQDVDA	TNPNYEIMCM	IRDFRGSLDY	RPLTTADPID	EHRICVCVRK	RPLNKKETQM
250	260	270	280	290	300
KDLDVITIPS	KDVVMVHEPK	QKVDLTRYLE	NQTFRFDYAF	DDSAPNEMVY	RFTARPLVET
310	320	330	340	350	360
IFERGMATCF	AYGQTGSGKT	HTMGGDFSGK	NQDCSKGIYA	LAARDVFLML	KKPNYKKLEL
370	380	390	400	410	420
QVYATFFEIY	SGKVFDLLNR	KTKLRVLEDG	KQQVQVVGLQ	EREVKCVEDV	LKLIDIGNSC
430	440	450	460	470	480
RTSGQTSANA	HSSRSHAVFQ	IILRRKGKLH	GKFSLIDLAG	NERGADTSSA	DRQTRLEGAE
490	500	510	520	530	540
INKSLLALKE	CIRALGRNKP	HTPFRASKLT	QVLRDSFIGE	NSRTCMIATI	SPGMASCENT
550	560	570	580	590	600
LNTLRYANRV	KELTVDPTAA	GDVRPIMHHP	PNQIDDLETQ	WGVGSSPQRD	DLKLLCEQNE
610	620	630	640	650	660
EEVSPQLFTF	HEAVSQMVEM	EEQVVEDHRA	VFQESIRWLE	DEKALLEMTE	EVDYDVDSYA
670	680	690	700
TQLEAILEQK	IDILTELRDK	VKSFRAALQE	EEQASKQINP	KRPRAL