AiPD: Autoinhibited Protein Database

Q9P258

Gene name	RCC2 (KIAA1470, TD60)
Protein name	Protein RCC2
Names	RCC1-like protein TD-60, Telophase disk protein of 60 kDa
Species	Homo sapiens (Human)
KEGG Pathway	hsa:55920
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-121 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-121 (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

2 structures for Q9P258

Entry ID	Method	Resolution	Chain	Position	Source
5GWN	X-ray	131 A	A	89-522	PDB
AF-Q9P258-F1	Predicted				AlphaFoldDB

325 variants for Q9P258

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs864622010 CA348437 RCV000204199	261	C>S	Malignant tumor of prostate [ClinVar]	Yes	Ensembl ClinGen ClinVar dbSNP
rs1287122449 CA338297078	3	R>M		No	ClinGen gnomAD
rs900802401 CA18610512	3	R>S		No	ClinGen TOPMed
rs1206451507 CA338297067	5	K>E		No	ClinGen gnomAD
CA338297065 rs1356433737	5	K>T		No	gnomAD ClinGen
rs769291157 CA642514	6	A>V		No	ExAC gnomAD ClinGen
rs747715671 CA18610509	7	A>G		No	ClinGen ExAC TOPMed gnomAD
CA642513 rs747715671	7	A>V		No	ClinGen ExAC TOPMed gnomAD
CA338297049 rs1293589148	8	A>S		No	ClinGen TOPMed
CA642511 rs768122391	8	A>V		No	ExAC gnomAD ClinGen
rs1402573251 CA338297045	9	A>T		No	gnomAD ClinGen
rs1361272357 CA338297041	9	A>V		No	ClinGen gnomAD
rs757651071 CA18610503	10	A>P		No	ClinGen ExAC TOPMed gnomAD
rs757651071 CA642508	10	A>S		No	ExAC TOPMed gnomAD ClinGen
CA642504 rs749545470	11	W>*		No	ClinGen ExAC gnomAD
CA18610495 rs953268980	11	W>R		No	TOPMed gnomAD ClinGen
CA642503 rs778083341	12	E>*		No	ClinGen ExAC TOPMed
CA18610492 rs778083341	12	E>Q		No	ClinGen ExAC TOPMed
CA642500 rs767775116	13	E>D		No	ExAC TOPMed gnomAD ClinGen
CA642501 rs752935764	13	E>K		No	ClinGen ExAC gnomAD
CA338297014 rs755098190	14	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA642499 rs755098190	14	P>R		No	ExAC TOPMed gnomAD ClinGen
CA338297000 rs1259551281	16	S>L		No	ClinGen gnomAD
rs1014549740 CA18610483	16	S>P		No	TOPMed gnomAD ClinGen
CA18610481 rs983113570	17	G>V		No	ClinGen TOPMed
CA18610479 rs766354325	19	G>C		No	ExAC TOPMed gnomAD ClinGen
CA642497 rs766354325	19	G>R		No	ClinGen ExAC TOPMed gnomAD
CA338296981 rs1308087997	20	T>A		No	ClinGen TOPMed
CA338296975 rs1570218675	21	A>T		No	Ensembl ClinGen
rs762839147 CA642496	21	A>V		No	ExAC TOPMed ClinGen
CA338296968 rs1231642308	22	R>H		No	TOPMed ClinGen
rs1220213586 CA338296971	22	R>S		No	gnomAD ClinGen
rs1355026419 CA338296964	23	A>P		No	TOPMed ClinGen
rs772834484 CA642495	23	A>V		No	ExAC TOPMed gnomAD ClinGen
CA642494 rs765059019	24	G>E		No	ExAC gnomAD ClinGen
CA18610473 rs1027429528	25	P>S		No	ClinGen TOPMed
rs1371101263 CA338296948	26	R>K		No	ClinGen TOPMed
rs895336495 CA18610471	31	P>Q		No	TOPMed gnomAD ClinGen
rs895336495 CA18610469	31	P>R		No	ClinGen TOPMed gnomAD
CA642493 rs761411194	32	A>G		No	ClinGen ExAC TOPMed gnomAD
CA338296909 rs761411194	32	A>V		No	ClinGen ExAC TOPMed gnomAD
CA18610464 rs111967605	33	G>A		No	ClinGen Ensembl
CA642491 rs564876055	33	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA18610461 rs902802344	36	R>S		No	ClinGen TOPMed
CA338296874 rs1246817189	38	R>P		No	ClinGen TOPMed gnomAD
rs1042412966 CA18610458	40	E>Q		No	ClinGen TOPMed
CA338296853 rs1570218478	41	R>L		No	ClinGen Ensembl
CA338296843 rs1340859179	43	S>G		No	TOPMed gnomAD ClinGen
CA338296815 rs1413752084	46	S>I		No	gnomAD ClinGen
CA18610454 rs1049852278	47	G>S		No	ClinGen TOPMed gnomAD
CA338296798 rs1466231494	49	G>D		No	ClinGen gnomAD
CA338296801 rs1190956143	49	G>S		No	TOPMed gnomAD ClinGen
rs1211465208 CA338296780	51	S>R		No	ClinGen gnomAD
rs1340859502 CA338296777	52	G>S		No	Ensembl ClinGen
CA338296751 rs1276951412	55	D>E		No	ClinGen TOPMed gnomAD
CA338296747 rs1318943084	56	G>D		No	ClinGen gnomAD
CA18610442 rs983059913	56	G>R		No	TOPMed gnomAD ClinGen
CA338296748 rs983059913	56	G>S		No	TOPMed gnomAD ClinGen
rs1277641982 CA338296735	58	E>G		No	ClinGen gnomAD
CA18610441 rs951742583	59	L>F		No	TOPMed ClinGen
rs1381231594 CA338296718	61	G>W		No	ClinGen TOPMed gnomAD
rs1443138726 CA338296712	62	A>T		No	TOPMed gnomAD ClinGen
CA642485 rs544910613 COSM4143066	62	A>V	thyroid [Cosmic]	No	1000Genomes ExAC TOPMed gnomAD ClinGen cosmic curated
rs990588396 CA18610438	63	P>S		No	ClinGen TOPMed gnomAD
rs553120484 CA18610436	65	G>R		No	ClinGen Ensembl
rs749681186 CA642484	66	G>C		No	ExAC TOPMed gnomAD ClinGen
rs1454626195 CA338296687	66	G>V		No	ClinGen TOPMed
TCGA novel	68	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338296667 rs1422519509	69	A>G		No	ClinGen TOPMed gnomAD
rs1422519509 CA338296666	69	A>V		No	ClinGen TOPMed gnomAD
rs778043951 CA338296656	71	R>L		No	ExAC gnomAD ClinGen
rs778043951 CA642482	71	R>P		No	ExAC gnomAD ClinGen
CA642480 rs781509466	72	P>L		No	ClinGen ExAC TOPMed gnomAD
CA642479 rs781509466	72	P>Q		No	ExAC TOPMed gnomAD ClinGen
CA642481 rs756500381	72	P>S		No	ClinGen ExAC gnomAD
rs751649619 CA642477	74	T>I		No	ClinGen ExAC TOPMed gnomAD
CA642475 rs147842365	75	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA642474 rs750342705	75	A>V		No	ClinGen ExAC gnomAD
CA338296637 rs1570218034	76	G>S		No	ClinGen Ensembl
CA642472 rs761653669	78	A>T		No	ExAC TOPMed gnomAD ClinGen
rs763666560 CA642470	80	G>C		No	ExAC TOPMed gnomAD ClinGen
CA642468 rs774927610	81	A>S		No	ClinGen ExAC
rs1325558277 CA338296603	81	A>V		No	TOPMed ClinGen
rs1342726057 CA338296600	82	A>D		No	TOPMed ClinGen
rs771584794 CA642467	82	A>P		No	ExAC TOPMed gnomAD ClinGen
CA338296602 rs771584794	82	A>T		No	ClinGen ExAC TOPMed gnomAD
rs200660338 CA642466	83	V>A		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA338296593 rs200660338	83	V>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA338296592 rs1423740058	84	V>I		No	ClinGen gnomAD
TCGA novel	86	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1403523775 CA338296577	86	T>S		No	ClinGen TOPMed
CA338296562 rs1180875651	88	P>L		No	ClinGen gnomAD
CA642464 rs770070035	90	H>D		No	ExAC TOPMed gnomAD ClinGen
rs1176933456 CA338296546	90	H>Q		No	gnomAD ClinGen
CA338296551 rs770070035	90	H>Y		No	ExAC TOPMed gnomAD ClinGen
rs1372730776 CA338296543	91	T>A		No	ClinGen TOPMed
CA338296540 rs748459544	91	T>I		No	ExAC TOPMed gnomAD ClinGen
CA642463 rs748459544	91	T>N		No	ExAC TOPMed gnomAD ClinGen
CA338296544 rs1372730776	91	T>P		No	TOPMed ClinGen
rs781597729 CA338296535	92	K>M		No	ClinGen ExAC gnomAD
rs1220975630 CA338296533	92	K>N		No	TOPMed gnomAD ClinGen
rs781597729 CA642462	92	K>R		No	ExAC gnomAD ClinGen
rs768950488 CA642461	95	V>I		No	ClinGen ExAC TOPMed gnomAD
CA642439 rs375794587	96	K>Q		No	ClinGen ESP ExAC gnomAD
CA338283521 rs1570200545	102	C>G		No	Ensembl ClinGen
rs1286398028 CA338283506	104	G>R		No	gnomAD ClinGen
CA642436 rs757134239	106	L>V		No	ExAC gnomAD ClinGen
TCGA novel	107	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1398309878 CA338283457	111	A>E		No	gnomAD ClinGen
rs967428152 CA18683776	115	D>H		No	ClinGen TOPMed
rs967428152 CA18683778	115	D>N		No	TOPMed ClinGen
CA642434 rs777615433	117	I>V		No	ExAC gnomAD ClinGen
CA338283389 COSM176032 rs1239148028	119	R>Q	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	gnomAD ClinGen cosmic curated NCI-TCGA
CA642432 rs752309391	121	E>G		No	ExAC gnomAD ClinGen
rs200113297 CA18683768	122	V>A		No	ClinGen 1000Genomes
CA338283330 rs1327294727	124	K>E		No	ClinGen TOPMed
TCGA novel	124	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751141523 CA642411	129	Y>H		No	ClinGen ExAC gnomAD
COSM900094 CA18681008 rs866954648	130	R>H	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	Ensembl ClinGen cosmic curated NCI-TCGA
rs1209953726 CA338282402	130	R>S		No	ClinGen gnomAD
rs1043708357 CA18681005	131	N>S		No	ClinGen Ensembl
CA338282366 rs1379491298	133	G>S		No	ClinGen gnomAD
CA338282320 rs1310470456	139	P>T		No	gnomAD ClinGen
TCGA novel	140	H>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs147308075 CA338282292	142	Y>*		No	ESP ExAC TOPMed gnomAD ClinGen
rs1325576382 CA338282281	144	C>S		No	ClinGen gnomAD
rs760975170 CA642406	145	L>Q		No	ExAC gnomAD ClinGen
rs759838672 CA642404	146	A>E		No	ClinGen ExAC TOPMed gnomAD
CA642405 rs775872815	146	A>P		No	ExAC gnomAD ClinGen
CA642403 rs759838672	146	A>V		No	ClinGen ExAC TOPMed gnomAD
CA338282259 rs1570194565	148	V>G		No	Ensembl ClinGen
CA338282263 rs1380667228	148	V>I		No	ClinGen gnomAD
CA642400 rs749301831	149	R>Q		No	ExAC TOPMed gnomAD ClinGen
rs1157896548 CA338282257	149	R>W		No	TOPMed gnomAD ClinGen
rs933825054 CA18680930	150	V>L		No	ClinGen gnomAD
rs933825054 CA338282254	150	V>M		No	ClinGen gnomAD
rs773167997 CA642399	151	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA18680926 rs372518228	151	R>W		No	ClinGen ESP
CA338282230 rs1570194476	154	V>G		No	Ensembl ClinGen
CA642398 rs769671322	154	V>I		No	ExAC gnomAD ClinGen
rs1570194468 TCGA novel CA338282226	155	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
TCGA novel	157	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA642392 rs757985187	161	H>Y		No	ExAC gnomAD ClinGen
CA642391 rs559715796	163	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1330532910 CA338282164	165	I>V		No	gnomAD ClinGen
rs756690967 CA642389	167	T>M		No	ExAC TOPMed gnomAD ClinGen
CA18680852 rs909810391	168	E>D		No	ClinGen Ensembl
rs1361135022 CA338282146	168	E>Q		No	ClinGen gnomAD
TCGA novel	175	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA642362 rs765416456 COSM900093	176	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA18678514 rs368467306	178	E>K		No	ClinGen ESP gnomAD
TCGA novel	181	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338281817 rs1430492616	182	L>V		No	ClinGen TOPMed gnomAD
CA338281789 rs1461019820	184	H>R		No	ClinGen TOPMed gnomAD
CA642361 rs761740023	187	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1392115033 CA338281739	188	K>E		No	ClinGen TOPMed
rs530477434 CA18678507	188	K>N		No	ExAC gnomAD ClinGen
rs760568692 CA642358	192	A>G		No	ClinGen ExAC gnomAD
CA642359 rs760568692	192	A>V		No	ClinGen ExAC gnomAD
rs1381335752 CA338281662	194	R>G		No	gnomAD ClinGen
CA642356 rs771957549	195	L>F		No	ExAC gnomAD ClinGen
rs1160263855 CA338281641	196	I>L		No	ClinGen TOPMed
rs1160263855 CA338281639	196	I>V		No	TOPMed ClinGen
CA18678457 rs182750941	201	H>Q		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA642352 rs137931688	201	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1408678821 CA338281564	202	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs755490156 CA642350	202	E>V		No	ExAC gnomAD ClinGen
CA338281555 rs1182976299	203	V>L		No	gnomAD ClinGen
rs1254818014 CA338281544	204	I>M		No	TOPMed ClinGen
CA642347 rs758750748	208	A>T		No	ExAC gnomAD ClinGen
rs564910907 CA642346	208	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs753811804 CA642343	211	R>Q		No	ClinGen ExAC gnomAD
TCGA novel	213	H>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA642342 rs764207854	213	H>Y		No	ExAC TOPMed gnomAD ClinGen
rs1424270929 CA338281422	215	L>F		No	ClinGen gnomAD
rs982310017 CA18678394	218	T>M		No	ClinGen TOPMed gnomAD
CA642328 rs188918935	220	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA642327 rs375146791	220	T>M		No	ESP ExAC TOPMed gnomAD ClinGen
TCGA novel	223	V>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338280744 rs1409247455	223	V>G		No	ClinGen TOPMed
rs764142789 CA642325	223	V>M		No	ExAC TOPMed gnomAD ClinGen
rs756246447 CA642324	224	F>S		No	ExAC gnomAD ClinGen
rs752691455 CA642323	225	A>V		No	ExAC gnomAD ClinGen
rs1157112911 CA338280618	229	N>D		No	gnomAD ClinGen
rs113904239 CA18678144	234	L>V		No	Ensembl ClinGen
TCGA novel	239	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA642316 rs769308682	242	A>T		No	ClinGen ExAC gnomAD
rs747592075 CA642315	242	A>V		No	ExAC gnomAD ClinGen
CA642313 rs772519042	243	V>D		No	ExAC gnomAD ClinGen
CA338280352 rs776006994	243	V>F		No	ExAC TOPMed gnomAD ClinGen
CA642314 rs776006994	243	V>I		No	ClinGen ExAC TOPMed gnomAD
CA338280353 rs776006994	243	V>L		No	ExAC TOPMed gnomAD ClinGen
CA18678126 rs975004004	244	P>S		No	ClinGen Ensembl
TCGA novel	245	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA642311 rs779181240	247	A>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	247	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA642286 rs749596397	249	I>V		No	ExAC TOPMed gnomAD ClinGen
CA338280207 rs1190649267	252	N>H		No	TOPMed ClinGen
rs778165911 CA338280201	252	N>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	253	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA18676745 rs1022975662	253	G>S		No	TOPMed ClinGen
TCGA novel	255	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770193380 CA642284	255	P>R		No	ExAC gnomAD ClinGen
CA642283 rs748353564	256	I>V		No	ExAC gnomAD ClinGen
rs781493205 CA642282	257	T>I		No	ExAC gnomAD ClinGen
CA642281 rs755073915	259	M>V		No	ExAC gnomAD ClinGen
rs1242309151 CA338280149	260	A>V		No	gnomAD ClinGen
TCGA novel	265	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	267	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338280041 rs1489445152	275	L>V		No	ClinGen TOPMed
CA642277 rs750168150	276	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA642278 rs540184917	276	Y>H		No	ClinGen 1000Genomes ExAC gnomAD
CA642276 rs764994560	278	F>S		No	ExAC gnomAD ClinGen
TCGA novel	281	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs897249858 CA18672842	293	K>R		No	ClinGen TOPMed gnomAD
CA642254 rs778746647	295	I>V		No	ClinGen ExAC gnomAD
CA642252 COSM182050 rs753498688	296	A>T	large_intestine [Cosmic]	No	ExAC gnomAD ClinGen cosmic curated
TCGA novel	297	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs148526460 CA18672807 COSM163974	297	R>W	breast [Cosmic]	No	ESP TOPMed ClinGen cosmic curated
rs1338384291 CA338279725	298	A>S		No	ClinGen Ensembl
CA338279691 rs1449056209	301	I>T		No	gnomAD ClinGen
rs752303798 CA642249	304	D>N		No	ClinGen ExAC TOPMed gnomAD
CA18672756 rs973659696	309	P>A		No	TOPMed gnomAD ClinGen
CA338279598 rs973659696	309	P>S		No	ClinGen TOPMed gnomAD
rs765710887 CA642245	310	R>Q		No	ExAC gnomAD ClinGen
CA642246 rs372979455	310	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1557623780 CA338279580	311	R>*		No	Ensembl ClinGen
rs147324256 CA18672739	311	R>L		No	ESP ClinGen
TCGA novel	311	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1570178970 CA338279567	312	V>G		No	ClinGen Ensembl
TCGA novel	313	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338279548 rs1317428017	314	I>S		No	gnomAD ClinGen
CA642242 rs768875780	316	I>M		No	ClinGen ExAC gnomAD
CA18672729 rs963314467	316	I>T		No	TOPMed gnomAD ClinGen
CA338279528 rs1403979434	316	I>V		No	gnomAD ClinGen
CA18672727 rs1034037689 COSM1336576	319	T>M	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA338279459 rs1197829328	322	G>R		No	ClinGen gnomAD
CA642240 rs775678467	323	Q>E		No	ClinGen ExAC gnomAD
CA338279433 rs1243020438	324	I>V		No	ClinGen gnomAD
TCGA novel	325	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1056155812 CA18672683	328	P>A		No	TOPMed ClinGen
CA18672669 rs939044571	328	P>L		No	TOPMed ClinGen
CA338279366 rs1265161825	329	N>S		No	gnomAD ClinGen
rs778760979 CA642237	330	V>M		No	ExAC gnomAD ClinGen
rs757048358 CA642236	333	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
CA642234 rs777410556	335	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs775990775 CA18672655	336	A>V		No	ClinGen Ensembl
rs1269363822 CA338279272	337	C>S		No	ClinGen gnomAD
CA642231 rs368688395	339	A>T		No	ESP ExAC gnomAD ClinGen
rs1336934181 CA338279231	341	H>R		No	gnomAD ClinGen
rs559390308 CA642199	343	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772968944 CA642195	350	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1481367055 CA338278357	357	G>A		No	ClinGen gnomAD
CA338278333 rs1269433247	361	R>Q		No	gnomAD ClinGen
rs757967054 CA642188	365	A>S		No	ClinGen ExAC TOPMed gnomAD
CA642189 rs757967054	365	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	370	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs149244344 CA18670389	372	V>L		No	ESP TOPMed gnomAD ClinGen
rs1358851709 CA338278216	379	F>L		No	ClinGen TOPMed
rs1267376162 CA338278199	381	F>V		No	gnomAD ClinGen
rs752951593 CA642184	382	P>S		No	ClinGen ExAC gnomAD
rs767844258 CA642183	383	G>E		No	ExAC gnomAD ClinGen
rs759823799 CA642182	384	R>G		No	ExAC gnomAD ClinGen
CA338278177 rs1344886182	384	R>H		No	TOPMed gnomAD ClinGen
CA338278109 rs1470975820	389	I>T		No	gnomAD ClinGen
CA642181 rs751770448	390	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA642180 rs766463900	391	A>G		No	ExAC ClinGen
CA642179 rs549105201	393	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1198576701 CA338278054	393	Y>H		No	gnomAD ClinGen
CA642177 rs765036263	395	C>G		No	ClinGen ExAC TOPMed gnomAD
rs929882086 CA18670301	396	S>F		No	ClinGen TOPMed
CA642173 rs377500060	399	V>I		No	ESP ExAC TOPMed gnomAD ClinGen
rs377500060 CA642174	399	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA18670291 rs778569664	403	G>R		No	ClinGen Ensembl
rs141067273 CA642148	403	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs150340592 CA642147	404	G>S		No	ClinGen ESP ExAC gnomAD
rs1388054895 CA338277573	405	L>M		No	gnomAD ClinGen
rs1184961221 CA338277435	412	N>S		No	ClinGen TOPMed gnomAD
TCGA novel	412	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	423	A>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	423	A>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1250680574 CA338277292	424	V>M		No	ClinGen TOPMed gnomAD
CA338277225 rs755366965	429	G>R		No	ExAC gnomAD ClinGen
CA642144 rs755366965	429	G>S		No	ExAC gnomAD ClinGen
TCGA novel	431	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA642141 rs758590901	433	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs780378675 COSM182047 CA642142	433	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ExAC gnomAD ClinGen cosmic curated NCI-TCGA
rs1314583050 CA338277191	434	S>N		No	ClinGen gnomAD
CA338276985 rs1455152415	442	I>V		No	gnomAD ClinGen
TCGA novel	445	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777976805 CA642117	447	D>N		No	ExAC TOPMed gnomAD ClinGen
rs756158591 CA642116	452	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA18669166 rs995528026	459	F>V		No	Ensembl ClinGen
CA642100 rs749489054	464	Y>N		No	ClinGen ExAC
rs1557619370 CA338275385	467	H>Q		No	Ensembl ClinGen
CA642097 rs370053181	467	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA642096 rs752583266 COSM1185345	469	P>A	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA338275339 rs1386035124	469	P>L		No	ClinGen TOPMed
rs752583266 CA338275356	469	P>T		No	ExAC gnomAD ClinGen
rs1157920111 CA338275335	470	K>E		No	ClinGen TOPMed
CA642095 rs781144883	470	K>R		No	ExAC gnomAD ClinGen
CA18667542 rs375043018	478	V>L		No	ClinGen ESP TOPMed
rs750065624 CA642090	479	K>R		No	ClinGen ExAC
rs1246582807 CA338274933	480	T>I		No	ClinGen TOPMed
rs1000458663 CA18667482	483	G>C		No	TOPMed ClinGen
rs1184474655 CA338274638	487	E>D		No	gnomAD ClinGen
rs758217920 CA642057	490	A>T		No	ExAC TOPMed gnomAD ClinGen
CA18666673 rs139119199	490	A>V		No	ClinGen ESP TOPMed gnomAD
CA338274110 rs1246374592	491	M>V		No	ClinGen TOPMed
TCGA novel	492	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA642055 rs778652847	495	H>Q		No	ClinGen ExAC gnomAD
CA642056 rs745609771	495	H>Y		No	ExAC gnomAD ClinGen
rs755033782 CA18666658	499	I>M		No	ClinGen Ensembl
rs752145310 CA642050	508	K>N		No	ExAC gnomAD ClinGen
CA18666613 rs375978687	509	E>G		No	ESP gnomAD ClinGen
CA642047 rs763532528	511	I>M		No	ExAC gnomAD ClinGen
rs766945295 CA642048	511	I>N		No	ClinGen ExAC
rs750859210 CA642046	513	K>E		No	ClinGen ExAC gnomAD
CA642044 rs762157907	514	L>P		No	ClinGen ExAC TOPMed gnomAD
rs762157907 CA338273068	514	L>Q		No	ExAC TOPMed gnomAD ClinGen
CA642042 rs768789589	518	N>K		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	520	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775426603 CA642041	521	T>N		No	ClinGen ExAC gnomAD
rs775426603 CA642040	521	T>S		No	ExAC gnomAD ClinGen
rs1027203159 CA18666558	522	L>V		No	ClinGen TOPMed gnomAD

No associated diseases with Q9P258

5 regional properties for Q9P258

Type	Name	Position	InterPro Accession
repeat	Regulator of chromosome condensation, RCC1	168 - 220	IPR000408-1
repeat	Regulator of chromosome condensation, RCC1	221 - 272	IPR000408-2
repeat	Regulator of chromosome condensation, RCC1	272 - 351	IPR000408-3
repeat	Regulator of chromosome condensation, RCC1	349 - 402	IPR000408-4
repeat	Regulator of chromosome condensation, RCC1	448 - 502	IPR000408-5

Functions

		Description
EC Number
Subcellular Localization	Nucleus, nucleolus Nucleus Cytoplasm, cytoskeleton Chromosome, centromere Cytoplasm, cytoskeleton, spindle Chromosome Midbody Cell membrane ; Peripheral membrane protein ; Cytoplasmic side	Appears in the nucleus at G2, then concentrates at the inner centromere region of chromosomes during prophase Redistributes to the midzone of the mitotic spindle during anaphase Here, the protein covers the entire equatorial diameter from cortex to cortex (PubMed:12919680, PubMed:1939370, PubMed:7559776, PubMed:9914378) Colocalizes with cytoplasmic microtubules in interphase cells (PubMed:23388455) Colocalizes with RAC1 at the cell membrane (PubMed:25074804)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

8 GO annotations of cellular component

Name	Definition
chromosome, centromeric core domain	The innermost portion of the centromeric region of a chromosome, encompassing the core region of a chromosome centromere and the proteins that bind to it.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
early endosome membrane	The lipid bilayer surrounding an early endosome.
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.
midbody	A thin cytoplasmic bridge formed between daughter cells at the end of cytokinesis. The midbody forms where the contractile ring constricts, and may persist for some time before finally breaking to complete cytokinesis.
mitotic spindle midzone	The area in the center of the anaphase spindle consisting of microtubules, microtubule bundling factors and kinesin motors where the spindle microtubules from opposite poles overlap in an antiparallel manner.
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.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

6 GO annotations of molecular function

Name	Definition
guanyl-nucleotide exchange factor activity	Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions.
microtubule binding	Binding to a microtubule, a filament composed of tubulin monomers.
protein domain specific binding	Binding to a specific domain of a protein.
protein kinase binding	Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.
RNA binding	Binding to an RNA molecule or a portion thereof.
small GTPase binding	Binding to a small monomeric GTPase.

15 GO annotations of biological process

Name	Definition
activation of GTPase activity	Any process that initiates the activity of an inactive GTPase through the replacement of GDP by GTP.
cell cycle	The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division.
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.
chromosome passenger complex localization to kinetochore	A cellular protein complex localization that acts on a chromosome passenger complex; as a result, the complex is transported to, or maintained in, a specific location at the kinetochore. A chromosome passenger complex is a protein complex that contains the BIR-domain-containing protein Survivin, Aurora B kinase, INCENP and Borealin, and coordinates various events based on its location to different structures during the course of mitosis.
establishment of protein localization	The directed movement of a protein to a specific location.
focal adhesion assembly	The aggregation and bonding together of a set of components to form a focal adhesion, a complex of intracellular signaling and structural proteins that provides a structural link between the internal actin cytoskeleton and the ECM, and also function as a locus of signal transduction activity.
integrin-mediated signaling pathway	The series of molecular signals initiated by an extracellular ligand binding to an integrin on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
negative regulation of focal adhesion assembly	Any process that stops, prevents, or reduces the frequency, rate or extent of focal adhesion assembly, the establishment and maturation of focal adhesions.
negative regulation of GTPase activity	Any process that stops or reduces the rate of GTP hydrolysis by a GTPase.
negative regulation of substrate adhesion-dependent cell spreading	Any process that stops, prevents or reduces the frequency, rate or extent of substrate adhesion-dependent cell spreading.
positive regulation of attachment of spindle microtubules to kinetochore	Any process that activates or increases the frequency, rate or extent of the attachment of spindle microtubules to the kinetochore.
positive regulation of G2/M transition of mitotic cell cycle	Any signalling pathway that activates or increases the activity of a cell cycle cyclin-dependent protein kinase to modulate the switch from G2 phase to M phase of the mitotic cell cycle.
regulation of cell migration	Any process that modulates the frequency, rate or extent of cell migration.
regulation of fibroblast migration	Any process that modulates the rate, frequency or extent of fibroblast cell migration. Fibroblast cell migration is accomplished by extension and retraction of a pseudopodium.
regulation of ruffle assembly	Any process that modulates the frequency, rate or extent of ruffle assembly.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8BK67	Rcc2	Protein RCC2	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MPRKKAAAAA	WEEPSSGNGT	ARAGPRKRGG	PAGRKRERPE	RCSSSSGGGS	SGDEDGLELD
70	80	90	100	110	120
GAPGGGKRAA	RPATAGKAGG	AAVVITEPEH	TKERVKLEGS	KCKGQLLIFG	ATNWDLIGRK
130	140	150	160	170	180
EVPKQQAAYR	NLGQNLWGPH	RYGCLAGVRV	RTVVSGSCAA	HSLLITTEGK	LWSWGRNEKG
190	200	210	220	230	240
QLGHGDTKRV	EAPRLIEGLS	HEVIVSAACG	RNHTLALTET	GSVFAFGENK	MGQLGLGNQT
250	260	270	280	290	300
DAVPSPAQIM	YNGQPITKMA	CGAEFSMIMD	CKGNLYSFGC	PEYGQLGHNS	DGKFIARAQR
310	320	330	340	350	360
IEYDCELVPR	RVAIFIEKTK	DGQILPVPNV	VVRDVACGAN	HTLVLDSQKR	VFSWGFGGYG
370	380	390	400	410	420
RLGHAEQKDE	MVPRLVKLFD	FPGRGASQIY	AGYTCSFAVS	EVGGLFFWGA	TNTSRESTMY
430	440	450	460	470	480
PKAVQDLCGW	RIRSLACGKS	SIIVAADEST	ISWGPSPTFG	ELGYGDHKPK	SSTAAQEVKT
490	500	510	520
LDGIFSEQVA	MGYSHSLVIA	RDESETEKEK	IKKLPEYNPR	TL