AiPD: Autoinhibited Protein Database

Q9GZR2

Gene name	REXO4 (PMC2, XPMC2H)
Protein name	RNA exonuclease 4
Names	Exonuclease XPMC2, Prevents mitotic catastrophe 2 protein homolog, hPMC2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:57109
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-51 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-51 (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 Q9GZR2

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9GZR2-F1	Predicted				AlphaFoldDB

396 variants for Q9GZR2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA200876393 rs587698156	4	A>P		No	1000Genomes ExAC gnomAD ClinGen
rs73550830 CA200876389	4	A>V		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs900800336 CA200876387	5	K>R		No	ClinGen TOPMed
rs587741408 CA200876384	7	P>L		No	ClinGen 1000Genomes
rs587659543 CA200876383	8	A>T		No	1000Genomes ClinGen
rs1042084400 CA200876382	9	S>F		No	TOPMed gnomAD ClinGen
rs1564401125 CA375706538	11	R>C		No	ClinGen Ensembl
rs781784519 CA200876365	12	A>D		No	ClinGen ExAC gnomAD
rs372737242 CA200876367	12	A>S		No	ESP ExAC TOPMed gnomAD ClinGen
CA200876378 rs372737242	12	A>T		No	ESP ExAC TOPMed gnomAD ClinGen
rs781784519 CA200876364	12	A>V		No	ClinGen ExAC gnomAD
CA375706532 rs782570302	13	P>A		No	ClinGen ExAC TOPMed gnomAD
CA200876349 rs148117957	13	P>R		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs782570302 CA200876363	13	P>S		No	ExAC TOPMed gnomAD ClinGen
rs782130974 CA200876322	14	S>I		No	ClinGen ExAC TOPMed
rs782130974 CA375706525	14	S>N		No	ClinGen ExAC TOPMed
CA200876319 rs781825193	15	S>N		No	ExAC gnomAD ClinGen
rs1554782034 CA375706509	16	P>L		No	gnomAD ClinGen
rs1554782037 CA375706512	16	P>S		No	gnomAD ClinGen
rs948755512 CA375706498	18	A>G		No	ClinGen TOPMed
rs948755512 CA200876307	18	A>V		No	TOPMed ClinGen
CA200876305 rs782052975	19	K>*		No	ExAC TOPMed gnomAD ClinGen
rs782052975 CA375706496	19	K>E		No	ClinGen ExAC TOPMed gnomAD
rs781941941 CA200876304	20	P>L		No	ClinGen ExAC TOPMed gnomAD
rs782165106 CA200876297	21	G>S		No	ExAC gnomAD ClinGen
CA200876296 rs781805760	22	P>R		No	ClinGen TOPMed gnomAD
CA200876290 rs782400065	24	K>E		No	ExAC gnomAD ClinGen
rs782223452 CA200876287	24	K>T		No	ClinGen ExAC TOPMed gnomAD
CA375706458 rs1554782011	25	T>M		No	gnomAD ClinGen
CA200876281 rs782321758	27	T>S		No	ExAC gnomAD ClinGen
rs782267475 CA200876277	28	R>L		No	ClinGen ExAC gnomAD
rs782267475 CA375706443	28	R>Q		No	ExAC gnomAD ClinGen
rs782685072 CA375706435	29	K>N		No	ClinGen ExAC TOPMed gnomAD
rs782601459 TCGA novel CA200876267	31	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
rs782256464 CA200876268	31	N>S		No	ClinGen ExAC gnomAD
CA200876258 rs782485323	32	K>R		No	ClinGen ExAC TOPMed gnomAD
rs374838582 CA200876245	35	K>E		No	ESP ExAC TOPMed gnomAD ClinGen
CA375706392 rs1588144451	35	K>N		No	ClinGen Ensembl
CA375706390 rs1210758777	36	R>G		No	ClinGen TOPMed
rs1256672011 CA375706388	36	R>K		No	ClinGen TOPMed
CA200876243 rs782538775	36	R>S		No	ExAC TOPMed gnomAD ClinGen
CA375706378 rs1564400855	37	F>L		No	Ensembl ClinGen
rs781904304 CA200876241	37	F>S		No	ExAC gnomAD ClinGen
rs1554781983 CA375706382	37	F>V		No	gnomAD ClinGen
rs991967084 CA200876240	39	K>E		No	Ensembl ClinGen
CA375706354 rs1554781979	40	S>R		No	gnomAD ClinGen
CA375706347 rs1554781977	41	K>N		No	ClinGen gnomAD
rs782132225 CA200876234	42	A>G		No	ClinGen ExAC gnomAD
rs960947357 CA200876238	42	A>S		No	ClinGen gnomAD
rs782132225 CA200876220	42	A>V		No	ExAC gnomAD ClinGen
CA200876213 rs923871515	43	R>Q		No	Ensembl ClinGen
rs781960842 CA200876216	43	R>W		No	ClinGen ExAC gnomAD
rs782060169 CA200876204	45	V>G		No	ExAC gnomAD ClinGen
rs1195502518 CA375706323	46	S>I		No	TOPMed gnomAD ClinGen
CA200876199 rs782013660	46	S>R		No	ClinGen ExAC TOPMed
rs782418056 CA200876196	47	K>R		No	ExAC gnomAD ClinGen
CA200876194 rs967668812	49	P>L		No	ClinGen gnomAD
CA375706296 rs1554781966	50	A>V		No	ClinGen gnomAD
CA200876177 rs919229021	51	S>N		No	ClinGen TOPMed
rs1554781961 CA375706275	53	P>L		No	ClinGen gnomAD
rs1554781962 CA375706280	53	P>S		No	gnomAD ClinGen
rs1554781957 CA375706270	54	G>A		No	gnomAD ClinGen
rs200370383 CA200876170	55	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA375706239 rs1334117502	60	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs782222715 CA200876153	63	P>S		No	ClinGen ExAC gnomAD
CA375706190 rs1402312628	67	S>P		No	TOPMed ClinGen
rs782282532 CA200876147	68	Q>E		No	ExAC gnomAD ClinGen
CA200876146 rs782687368	69	N>K		No	ExAC gnomAD ClinGen
CA375706168 rs1554781944	70	W>*		No	gnomAD ClinGen
CA200876145 rs868543227	71	K>N		No	Ensembl ClinGen
rs782499576 CA375706151	72	A>G		No	ExAC TOPMed gnomAD ClinGen
rs782499576 CA200876142	72	A>V		No	ExAC TOPMed gnomAD ClinGen
rs1345845931 CA375706147	73	L>P		No	TOPMed gnomAD ClinGen
rs1554781929 CA375706149	73	L>V		No	gnomAD ClinGen
rs1218654733 CA375706145	74	Q>*		No	ClinGen TOPMed gnomAD
CA200876135 rs781876881	74	Q>P		No	ExAC gnomAD ClinGen
rs782727445 CA200876131	75	E>Q		No	ClinGen ExAC gnomAD
rs782099859 CA200874641	76	W>*		No	ClinGen ExAC gnomAD
rs782793534 CA200874635	78	L>R		No	ClinGen ExAC
CA200874637 rs781822155	78	L>V		No	ExAC gnomAD ClinGen
CA200874633 rs782109504	79	K>E		No	ExAC gnomAD ClinGen
rs782031584 CA200874617	80	Q>K		No	ExAC ClinGen
CA200874615 rs909960522	81	K>N		No	Ensembl ClinGen
CA375706082 rs782403137	82	S>P		No	ExAC gnomAD ClinGen
CA200874613 rs782403137	82	S>T		No	ClinGen ExAC gnomAD
TCGA novel	82	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1462506368 CA375706064	84	A>V		No	TOPMed ClinGen
CA200874605 rs782516075	86	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1554781256 CA375706057	86	E>K		No	gnomAD ClinGen
CA200874598 rs781915967	88	P>L		No	ExAC gnomAD ClinGen
CA200874590 rs782422263	89	L>F		No	TOPMed gnomAD ClinGen
CA200874586 rs782202519	90	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1300237969 CA375706004	94	M>V		No	ClinGen TOPMed gnomAD
CA375705987 rs1351430926	96	S>C		No	TOPMed ClinGen
rs782632484 CA200874583	100	P>S		No	ClinGen ExAC gnomAD
rs782287244 CA375705936	103	I>M		No	ExAC TOPMed gnomAD ClinGen
rs782439812 CA200874581	103	I>T		No	ClinGen ExAC gnomAD
TCGA novel	105	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782588604 CA200874575	107	K>E		No	ExAC gnomAD ClinGen
rs782443230 CA200874572	107	K>R		No	ExAC gnomAD ClinGen
CA375705886 rs1588139489	110	T>N		No	ClinGen Ensembl
CA200874567 rs141547732	111	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782514055 CA200874563	112	P>S		No	ClinGen ExAC gnomAD
CA200874561 rs781854599	113	Q>*		No	ClinGen ExAC gnomAD
CA200874558 rs782800841	113	Q>L		No	ExAC gnomAD ClinGen
CA375705855 rs1554781217	115	K>N		No	ClinGen gnomAD
rs1554781218 CA375705856	115	K>T		No	gnomAD ClinGen
rs1554781216 CA375705839	118	E>K		No	ClinGen gnomAD
CA375705821 rs1564397718	120	P>A		No	ClinGen Ensembl
CA200874553 rs181933135	120	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA375705816 rs1554781214	121	A>P		No	gnomAD ClinGen
TCGA novel	124	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA200874550 rs782695524	125	Q>R		No	ExAC TOPMed gnomAD ClinGen
CA375705771 rs1249146260	127	A>D		No	ClinGen TOPMed
rs1554781211 CA375705763	128	S>I		No	gnomAD ClinGen
rs782094396 CA200874547	128	S>R		No	ExAC gnomAD ClinGen
rs1554781211 CA375705764	128	S>T		No	gnomAD ClinGen
TCGA novel	130	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs199989812 CA200874546	131	S>F		No	1000Genomes ExAC gnomAD ClinGen
rs1554781207 CA375705747	131	S>P		No	ClinGen gnomAD
CA375705746 rs1554781207	131	S>T		No	ClinGen gnomAD
rs1588139345 CA375705738	132	V>G		No	Ensembl ClinGen
rs782783753 CA200874542	133	P>S		No	ClinGen ExAC gnomAD
CA200874538 rs782166709	134	S>P		No	ExAC gnomAD ClinGen
CA375705711 rs1554781203	136	S>C		No	gnomAD ClinGen
rs587596898 CA200874535	137	K>Q		No	ClinGen 1000Genomes
rs782023241 CA200874531	139	D>A		No	ExAC gnomAD ClinGen
rs1554781200 CA375705679	140	R>K		No	ClinGen gnomAD
rs147008170 CA375705676	140	R>S		No	ESP ExAC gnomAD ClinGen
VAR_023067 CA200874525 COSM4163490 rs6597630	141	R>K	thyroid [Cosmic]	No	ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA200874523 rs781806472	142	A>S		No	ExAC TOPMed gnomAD ClinGen
CA375705667 rs781806472	142	A>T		No	ClinGen ExAC TOPMed gnomAD
rs988432346 CA200874521	142	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
rs374601411 CA200874505	143	P>L		No	ESP ExAC TOPMed gnomAD ClinGen
rs782624296 CA200874508	143	P>S		No	ClinGen ExAC gnomAD
rs370869145 CA200874502	144	V>I		No	ESP ExAC gnomAD ClinGen
CA200874498 rs370869145	144	V>L		No	ClinGen ESP ExAC gnomAD
CA200874495 rs782431550	146	R>C		No	ClinGen ExAC TOPMed gnomAD
CA200874492 rs377306235	146	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA200874485 rs377306235	146	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1032708145 CA200874482	149	A>D		No	TOPMed ClinGen
rs1032708145 CA375705611	149	A>G		No	ClinGen TOPMed
rs782511930 CA200874477	151	G>R		No	ExAC gnomAD ClinGen
rs1554781169 CA375705588	152	T>A		No	gnomAD ClinGen
CA200874475 rs374718488	152	T>I		No	ESP TOPMed gnomAD ClinGen
CA375705586 rs374718488	152	T>K		No	ClinGen ESP TOPMed gnomAD
rs1554781161 CA375705579	153	E>*		No	ClinGen gnomAD
CA375705562 rs1554781159	155	N>D		No	ClinGen gnomAD
rs1226569952 CA375705556	155	N>K		No	ClinGen TOPMed
rs781910782 CA200874464	155	N>S		No	ExAC TOPMed gnomAD ClinGen
rs782792992 CA200874462	158	G>R		No	ExAC gnomAD ClinGen
CA200874452 rs782702752	159	T>N		No	ExAC TOPMed gnomAD ClinGen
CA200874456 rs782702752	159	T>S		No	ExAC TOPMed gnomAD ClinGen
rs1227388830 CA375705511	161	E>G		No	ClinGen TOPMed gnomAD
rs781924959 CA200874449	162	R>K		No	ExAC gnomAD ClinGen
CA375705499 rs1554781151	162	R>S		No	ClinGen gnomAD
rs1554781148 CA375705497	163	T>A		No	ClinGen gnomAD
CA200874446 rs782748541	164	N>H		No	ExAC gnomAD ClinGen
rs587640302 CA200874441	166	D>Y		No	1000Genomes ExAC gnomAD ClinGen
CA200874438 rs371005191	167	I>T		No	ESP ExAC TOPMed gnomAD ClinGen
rs140261963 CA200874435	168	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA200874432 rs782234380	171	R>*		No	ClinGen ExAC gnomAD
rs782234380 CA375705428	171	R>G		No	ClinGen ExAC gnomAD
rs948922930 CA200874429	171	R>Q		No	TOPMed gnomAD ClinGen
rs151201190 CA200874427	172	G>E		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA375705422 rs1554781130	172	G>R		No	ClinGen gnomAD
CA200874425 rs151201190	172	G>V		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA375705400 rs149724403	174	I>M		No	ESP ExAC TOPMed gnomAD ClinGen
rs375819122 CA200874423	174	I>V		No	ESP ExAC TOPMed gnomAD ClinGen
rs782462489 CA200874416 COSM1106421	175	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA375705387 rs1167068707	176	H>Q		No	ClinGen TOPMed
rs200846181 CA200874402	176	H>R		No	ClinGen 1000Genomes
rs1397173836 CA375705371	178	K>R		No	ClinGen TOPMed
CA200874395 rs140757999	179	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA200874398 rs201828143	179	R>W		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs782583620 CA200874379	182	K>E		No	ExAC TOPMed gnomAD ClinGen
CA375705336 rs1432907999	182	K>N		No	ClinGen TOPMed
rs1554781109 CA375705334	183	E>K		No	ClinGen gnomAD
rs1322545687 CA375705305	186	P>S		No	ClinGen TOPMed
rs1434155462 CA375705284	188	P>L		No	TOPMed ClinGen
rs1365799283 CA375705289	188	P>S		No	ClinGen TOPMed
rs1295155781 CA375705266	190	T>I		No	ClinGen TOPMed
rs368837729 CA200874375	191	E>K		No	ESP ExAC TOPMed gnomAD ClinGen
rs115553210 CA200873441	195	W>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA375705214 rs1554780593	195	W>C		No	gnomAD ClinGen
CA200873434 rs782008509	198	D>N		No	ClinGen ExAC TOPMed gnomAD
CA375705184 rs1242931495	199	V>G		No	TOPMed gnomAD ClinGen
rs201137079 CA200873421	199	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1588135487 CA375705180	200	D>A		No	ClinGen Ensembl
rs201663352 CA200873418	202	A>V		No	ClinGen ExAC TOPMed gnomAD
CA200873414 rs782249670	203	D>V		No	ClinGen ExAC TOPMed gnomAD
rs1554780581 CA375705156	204	I>V		No	gnomAD ClinGen
CA375705150 rs1554780579	205	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA375705135 rs1554780577	207	A>P		No	ClinGen gnomAD
CA200873411 rs781805204	208	I>V		No	ClinGen ExAC gnomAD
TCGA novel	209	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs139090649 CA200873410	212	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1588135410 CA375705096	213	A>G		No	ClinGen Ensembl
rs868609425 CA200873405	213	A>T		No	Ensembl ClinGen
CA375705092 rs1588135402	214	K>Q		No	Ensembl ClinGen
CA375705085 rs1360928389	215	I>L		No	TOPMed ClinGen
CA375705075 rs782496820	216	A>G		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	216	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA200873404 COSM204533 rs782496820	216	A>V	large_intestine [Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated
CA200873403 rs146194678	217	R>S		No	ESP TOPMed ClinGen
rs1554780567 CA375705067	218	K>E		No	gnomAD ClinGen
rs781819101 CA200873402	218	K>R		No	ExAC TOPMed gnomAD ClinGen
rs587607632 CA200873401	220	L>F		No	ClinGen 1000Genomes
CA375705052 rs1588135351	220	L>V		No	Ensembl ClinGen
RCV001250900 rs1839299409	222	Q>*		No	ClinVar dbSNP
CA200873399 rs782791524	223	S>G		No	ClinGen ExAC TOPMed gnomAD
CA200873397 rs782112282	224	E>K		No	ExAC gnomAD ClinGen
rs148803403 CA200873387	227	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA200873377 rs144320462	228	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA200873375 rs781976855	230	S>G		No	ExAC gnomAD ClinGen
CA200873373 rs587673111	230	S>N		No	1000Genomes ExAC gnomAD ClinGen
rs1324991142 CA375704979	231	L>F		No	ClinGen TOPMed
TCGA novel	231	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1588135257 CA375704975	232	V>M		No	Ensembl ClinGen
rs781985111 CA200873361	234	E>G		No	ClinGen ExAC TOPMed gnomAD
CA375704950 rs1460291805	235	Q>R		No	TOPMed ClinGen
rs201077059 CA375704933	237	F>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA200873353 rs782280692	238	G>S		No	ExAC TOPMed gnomAD ClinGen
rs149617268 CA200873351	239	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA200873352 rs149617268	239	G>S		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA375704902 rs1554780377	241	T>R		No	ClinGen gnomAD
rs781905704 CA200873099	241	T>S		No	ClinGen ExAC gnomAD
CA200873096 rs374473489	242	R>G		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1554780371 CA375704895	242	R>S		No	ClinGen gnomAD
rs1554780368 CA375704889	243	A>D		No	gnomAD ClinGen
CA375704892 rs1588134536	243	A>T		No	ClinGen Ensembl
CA375704876 rs1196429362	245	A>G		No	TOPMed ClinGen
CA375704855 rs1554780361	248	C>S		No	gnomAD ClinGen
rs199826687 CA200873091	249	E>K		No	1000Genomes ExAC gnomAD ClinGen
CA200873085 rs782745257	252	G>V		No	ExAC gnomAD ClinGen
rs1196604812 CA375704821	253	V>A		No	ClinGen TOPMed gnomAD
rs370225194 CA200873073	253	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782154359 CA200873065	254	G>D		No	ClinGen ExAC gnomAD
CA200873062 rs1017292757	256	K>*		No	TOPMed gnomAD ClinGen
CA375704807 rs1017292757	256	K>E		No	TOPMed gnomAD ClinGen
rs376943789 CA200873059	256	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA375704808 rs1017292757	256	K>Q		No	TOPMed gnomAD ClinGen
CA375704802 rs372977426 CA200873057	257	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA200873056 rs372977426	257	G>W		No	ESP ExAC TOPMed gnomAD ClinGen
rs1554780343 CA375704794	258	E>G		No	ClinGen gnomAD
rs1554780348 CA375704798	258	E>K		No	ClinGen gnomAD
CA200873053 rs782398032	260	S>N		No	ClinGen ExAC TOPMed gnomAD
CA375704779 rs782398032	260	S>T		No	ExAC TOPMed gnomAD ClinGen
CA200873051 rs376245202	261	M>V		No	ClinGen TOPMed
CA200873041 rs782192693	263	A>P		No	ClinGen ExAC TOPMed gnomAD
rs782192693 CA200873043	263	A>T		No	ExAC TOPMed gnomAD ClinGen
rs1228376554 CA375704755	264	R>C		No	TOPMed gnomAD ClinGen
CA200873040 rs782582308	264	R>H		No	ClinGen ExAC TOPMed gnomAD
rs782776107 CA200873032	267	I>F		No	ClinGen ExAC TOPMed gnomAD
CA200873038 rs782776107	267	I>L		No	ClinGen ExAC TOPMed gnomAD
rs782776107 CA200873035	267	I>V		No	ExAC TOPMed gnomAD ClinGen
CA375704733 rs1264925916	268	V>A		No	ClinGen TOPMed
CA200873023 rs781905350	268	V>M		No	ExAC gnomAD ClinGen
CA375704721 rs1202776668	270	Q>*		No	ClinGen TOPMed
rs200413290 CA200873012	275	V>I		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA200873009 rs782750666	276	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs1193374469 CA375704679	276	Y>H		No	ClinGen TOPMed
CA200873004 rs915484404	277	D>V		No	TOPMed gnomAD ClinGen
CA200873000 rs587768877	280	V>I		No	1000Genomes ExAC TOPMed gnomAD ClinGen
VAR_023068 CA200872998 rs2285487	283	T>A		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP
CA200872999 rs2285487	283	T>P		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA200872990 rs201264176	284	E>K		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA200872988 rs782229177	285	P>R		No	ClinGen ExAC gnomAD
TCGA novel	285	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375704620 rs1554780305	285	P>T		No	gnomAD ClinGen
rs782390204 CA200872985	286	V>M		No	ExAC TOPMed gnomAD ClinGen
CA200872982 rs782245135	287	T>M		No	ExAC TOPMed gnomAD ClinGen
rs1225398465 CA375704577	291	T>I		No	TOPMed ClinGen
CA200872977 rs782528793	292	A>V		No	ExAC TOPMed gnomAD ClinGen
rs143153905 CA200872974	294	S>R		No	ESP ExAC TOPMed gnomAD ClinGen
rs782574183 CA200872972	295	G>R		No	ClinGen ExAC gnomAD
rs139021248 CA200872970	297	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA200872971 rs762447422	297	R>W		No	ClinGen ExAC gnomAD
rs782759821 CA200872969	299	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1352552492 CA375704502	303	Q>H		No	ClinGen TOPMed
rs201166399 CA200872481	306	E>D		No	1000Genomes ClinGen
CA375704456 rs1421260354	308	E>K		No	ClinGen TOPMed
CA200872478 rs781959562	309	V>A		No	ClinGen ExAC gnomAD
CA200872472 rs782337616	311	Q>R		No	ClinGen ExAC gnomAD
CA375704424 rs1554780026	313	E>K		No	gnomAD ClinGen
CA375704415 rs1358229175	314	V>M		No	ClinGen TOPMed
CA200872458 rs587595681	317	M>I		No	1000Genomes ClinGen
CA200872455 rs1052747169	319	K>N		No	TOPMed gnomAD ClinGen
rs936604440 CA200872453	320	G>V		No	TOPMed gnomAD ClinGen
rs782407921 CA200872451	321	R>G		No	ExAC TOPMed gnomAD ClinGen
rs782202357 CA200872439	322	I>V		No	ClinGen ExAC gnomAD
CA375704350 rs1554780009	324	V>A		No	ClinGen gnomAD
CA200872434 rs782490309	326	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs140371625 CA200872429	327	A>T		No	ESP ExAC TOPMed gnomAD ClinGen
CA200872426 rs958217886	329	H>R		No	ClinGen TOPMed
rs1310699714 CA375704323	329	H>Y		No	TOPMed ClinGen
rs782653723 CA200872425	330	N>S		No	ExAC gnomAD ClinGen
rs1017550266 CA200872422	331	D>G		No	ClinGen Ensembl
CA375704304 rs1487985530	332	L>V		No	TOPMed gnomAD ClinGen
CA375704294 rs1554780002	333	K>M		No	gnomAD ClinGen
rs1554779499 CA375704260	337	L>V		No	gnomAD ClinGen
CA200871330 rs782245774	338	D>G		No	ClinGen ExAC TOPMed gnomAD
CA375704252 rs782245774	338	D>V		No	ExAC TOPMed gnomAD ClinGen
rs782680327 CA200871326	339	H>D		No	ClinGen ExAC gnomAD
rs782680327 CA375704247	339	H>Y		No	ExAC gnomAD ClinGen
CA200871323 rs782537069	342	K>E		No	ClinGen ExAC gnomAD
rs200105674 CA200871318	342	K>R		No	ClinGen gnomAD
rs1554779492 CA375704214	343	K>N		No	gnomAD ClinGen
rs1554779488 CA375704211	344	I>V		No	gnomAD ClinGen
rs148276465 CA200871314	345	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs186019248 COSM1106417 CA200871316	345	R>W	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA200871310 rs782491738	347	T>I		No	ExAC gnomAD ClinGen
CA200871302 rs371980750	348	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1349291768 CA375704185	348	Q>H		No	TOPMed ClinGen
CA375704188 rs1281776993	348	Q>R		No	TOPMed ClinGen
TCGA novel	349	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782776033 CA200871299	350	Y>C		No	ClinGen ExAC gnomAD
rs781897102 CA200871291	351	K>Q		No	ExAC gnomAD ClinGen
CA375704157 rs1449082549	352	P>L		No	TOPMed ClinGen
rs782720845 CA200871286	353	F>L		No	ClinGen ExAC gnomAD
CA375704142 rs782054261	354	K>N		No	ClinGen ExAC gnomAD
rs28711662 CA200871277	355	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA375704132 rs1554779468	356	Q>K		No	gnomAD ClinGen
CA200871274 rs587659368	358	K>E		No	ClinGen 1000Genomes ExAC gnomAD
rs965391331 CA200870778	360	G>V		No	ClinGen Ensembl
rs781884423 CA200870776	361	R>K		No	ClinGen ExAC gnomAD
rs782051748 CA200870756 CA200870768	361	R>S		No	ClinGen ExAC TOPMed gnomAD
CA200870755 rs781965721	362	P>L		No	ExAC TOPMed gnomAD ClinGen
rs782421870 CA200870744	370	K>E		No	ClinGen ExAC gnomAD
rs370998485 CA200870743	370	K>N		No	ClinGen ESP ExAC gnomAD
CA375704032 rs1554779278	370	K>T		No	Ensembl ClinGen
CA200870741 rs782575079	372	L>P		No	ExAC gnomAD ClinGen
TCGA novel	372	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1554779270 CA375703978	378	Q>R		No	gnomAD ClinGen
rs1342123031 CA375703971	379	A>E		No	TOPMed gnomAD ClinGen
CA375703970 rs1342123031	379	A>G		No	TOPMed gnomAD ClinGen
CA375703969 rs1342123031	379	A>V		No	ClinGen TOPMed gnomAD
rs782661372 CA200870720	380	E>K		No	ExAC gnomAD ClinGen
CA200870699 rs782499353	381	H>R		No	ExAC gnomAD ClinGen
CA200870687 rs868046876	382	C>G		No	TOPMed ClinGen
CA375703951 rs1187204245	382	C>S		No	ClinGen TOPMed gnomAD
rs1187204245 CA375703952	382	C>Y		No	TOPMed gnomAD ClinGen
CA200870685 rs773506690	383	S>L		No	ClinGen Ensembl
TCGA novel	384	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs929644560 CA200870172	385	Q>E		No	ClinGen Ensembl
rs1311362106 CA375703916	386	D>N		No	ClinGen TOPMed
rs1554779024 CA375703900	388	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1357981246 CA375703894	389	A>T		No	TOPMed ClinGen
rs1554779019 CA375703889	389	A>V		No	gnomAD ClinGen
rs782215495 CA200870156	391	M>T		No	ExAC gnomAD ClinGen
CA200870163 rs1049998148	391	M>V		No	ClinGen TOPMed gnomAD
rs781901365 CA200870152 CA375703857	394	Y>*		No	ExAC TOPMed gnomAD ClinGen
CA200870145 rs61729419	395	V>I		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs781838679 CA200870136	396	M>T		No	ClinGen ExAC gnomAD
rs782452078 CA200870139	396	M>V		No	ExAC gnomAD ClinGen
CA200870133 rs782744818	397	V>M		No	ClinGen ExAC gnomAD
rs782141864 CA200870130	398	K>R		No	ExAC gnomAD ClinGen
CA200870127 rs781990078	399	K>E		No	ExAC TOPMed gnomAD ClinGen
rs781990078 CA375703832	399	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1564389609 CA375703825	400	E>K		No	ClinGen Ensembl
rs782815795 CA200870122	401	W>*		No	ExAC TOPMed gnomAD ClinGen
rs1588126870 CA375703815	401	W>G		No	Ensembl ClinGen
rs782815795 CA375703813	401	W>L		No	ExAC TOPMed gnomAD ClinGen
rs1409192100 CA375703807	402	E>*		No	TOPMed ClinGen
rs1409192100 CA375703809	402	E>K		No	ClinGen TOPMed
rs1554778988 CA375703798	403	S>N		No	gnomAD ClinGen
rs1326552681 CA375703789	404	M>R		No	TOPMed ClinGen
CA200870121 rs782155854	404	M>V		No	ExAC gnomAD ClinGen
rs781896901 CA200870120	405	A>V		No	ClinGen TOPMed gnomAD
rs781936181 CA200870119	406	R>*		No	ExAC TOPMed gnomAD ClinGen
rs782300876 CA200870108	406	R>Q		No	ExAC TOPMed gnomAD ClinGen
rs1554778983 CA375703777	407	D>N		No	ClinGen gnomAD
CA200870101 rs782220781	407	D>V		No	ClinGen ExAC TOPMed gnomAD
CA375703770 rs1299032448	408	R>G		No	ClinGen TOPMed gnomAD
rs200117719 CA200870098	409	R>C		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs1213225220 CA375703760	409	R>H		No	TOPMed gnomAD ClinGen
CA375703759 rs1213225220	409	R>L		No	ClinGen TOPMed gnomAD
CA375703734 rs1554778972	414	A>S		No	ClinGen gnomAD
rs782246136 CA375703724	416	D>H		No	ClinGen ExAC gnomAD
rs782246136 CA200870077	416	D>N		No	ClinGen ExAC gnomAD
CA200870073 rs782404626	417	H>P		No	ClinGen ExAC gnomAD
CA375703713 rs782404626	417	H>R		No	ExAC gnomAD ClinGen
CA200870069 rs782178663	418	C>G		No	ClinGen ExAC TOPMed gnomAD
CA375703708 rs1554778957	418	C>Y		No	gnomAD ClinGen
CA375703703 rs1241462571	419	S>R		No	TOPMed ClinGen
CA200870067 rs999746553	420	D>N		No	ClinGen TOPMed
CA375703682 rs781872724	421	D>E		No	ExAC TOPMed gnomAD ClinGen
rs782465318 CA375703687	421	D>H		No	ClinGen ExAC TOPMed gnomAD
rs782465318 CA200870058	421	D>N		No	ClinGen ExAC TOPMed gnomAD
rs782558613 CA200870029	422	A>S		No	ExAC gnomAD ClinGen
CA200870042 rs782558613	422	A>T		No	ExAC gnomAD ClinGen
rs1016686462 CA200870018	422	A>V		No	ClinGen TOPMed gnomAD
CA375703677 rs1554778932	423	A>K		No	gnomAD ClinGen
rs1554778932 CA375703678	423	A>Q		No	ClinGen gnomAD
rs1554778931 CA375703674	423	A>W		No	ClinGen gnomAD
CA200870013 rs141346614	423	A>Y		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen

No associated diseases with Q9GZR2

1 regional properties for Q9GZR2

Type	Name	Position	InterPro Accession
domain	Small GTP-binding protein domain	51 - 212	IPR005225

Functions

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

4 GO annotations of cellular component

Name	Definition
nuclear speck	A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy.
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.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

6 GO annotations of molecular function

Name	Definition
3'-5' exonuclease activity	Catalysis of the hydrolysis of ester linkages within nucleic acids by removing nucleotide residues from the 3' end.
double-stranded DNA binding	Binding to double-stranded DNA.
endonuclease activity	Catalysis of the hydrolysis of ester linkages within nucleic acids by creating internal breaks.
exonuclease activity	Catalysis of the hydrolysis of ester linkages within nucleic acids by removing nucleotide residues from the 3' or 5' end.
RNA binding	Binding to an RNA molecule or a portion thereof.
single-stranded DNA binding	Binding to single-stranded DNA.

5 GO annotations of biological process

Name	Definition
DNA catabolic process, endonucleolytic	The chemical reactions and pathways resulting in the breakdown of DNA, involving the hydrolysis of internal 3',5'-phosphodiester bonds in one or two strands of deoxyribonucleotides.
DNA catabolic process, exonucleolytic	The chemical reactions and pathways resulting in the breakdown of DNA, involving the hydrolysis of terminal 3',5'-phosphodiester bonds in one or two strands of deoxyribonucleotides.
DNA repair	The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway.
regulation of DNA-templated transcription	Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.
rRNA processing	Any process involved in the conversion of a primary ribosomal RNA (rRNA) transcript into one or more mature rRNA molecules.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MGKAKVPASK	RAPSSPVAKP	GPVKTLTRKK	NKKKKRFWKS	KAREVSKKPA	SGPGAVVRPP
70	80	90	100	110	120
KAPEDFSQNW	KALQEWLLKQ	KSQAPEKPLV	ISQMGSKKKP	KIIQQNKKET	SPQVKGEEMP
130	140	150	160	170	180
AGKDQEASRG	SVPSGSKMDR	RAPVPRTKAS	GTEHNKKGTK	ERTNGDIVPE	RGDIEHKKRK
190	200	210	220	230	240
AKEAAPAPPT	EEDIWFDDVD	PADIEAAIGP	EAAKIARKQL	GQSEGSVSLS	LVKEQAFGGL
250	260	270	280	290	300
TRALALDCEM	VGVGPKGEES	MAARVSIVNQ	YGKCVYDKYV	KPTEPVTDYR	TAVSGIRPEN
310	320	330	340	350	360
LKQGEELEVV	QKEVAEMLKG	RILVGHALHN	DLKVLFLDHP	KKKIRDTQKY	KPFKSQVKSG
370	380	390	400	410	420
RPSLRLLSEK	ILGLQVQQAE	HCSIQDAQAA	MRLYVMVKKE	WESMARDRRP	LLTAPDHCSD

DA