AiPD: Autoinhibited Protein Database

Q8IZJ4

Gene name	RGL4 (RGR)
Protein name	Ral-GDS-related protein
Names	hRGR, Ral guanine nucleotide dissociation stimulator-like 4, RalGDS-like 4
Species	Homo sapiens (Human)
KEGG Pathway	hsa:266747
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

86-235 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

86-235 (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 Q8IZJ4

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8IZJ4-F1	Predicted				AlphaFoldDB

260 variants for Q8IZJ4

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
TCGA novel	21	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs738786 VAR_016244	24	Q>R		No	UniProt dbSNP
rs763009412	25	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	27	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
VAR_051905 rs17003394	37	R>C		No	UniProt dbSNP
rs775973654	37	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	43	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	61	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	69	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776764823	72	E>K	Variant assessed as Somatic; 0.0002772 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	72	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs146983963	87	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	92	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs371757094	120	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	136	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	147	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1411795644	165	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750034976	173	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	175	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs17003397 VAR_051906	216	T>M		No	UniProt dbSNP
TCGA novel	225	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10144136 rs777341486	233	E>G		No	ClinGen ExAC TOPMed gnomAD
rs371461321 CA10144135	233	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA410906349 rs1471259118	235	F>S		No	ClinGen gnomAD
CA322553385 rs768352382	236	K>N		No	ClinGen Ensembl
rs148740911 CA322553383	236	K>R		No	ClinGen ESP
rs1047546859 CA322553387	237	K>E		No	ClinGen TOPMed
CA10144138 rs144626367	238	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA410906381 rs1232888636	238	V>L		No	ClinGen TOPMed
CA410906380 rs1232888636	238	V>M		No	ClinGen TOPMed
CA410906395 rs1601285698	240	L>F		No	ClinGen Ensembl
rs2070446 CA410906410	241	H>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs2070446 CA10144139 VAR_016245	241	H>Y		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA10144141 rs145276888	242	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1303900180 CA410906438	243	C>R		No	ClinGen TOPMed
CA410906461 rs557916817	245	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10144142 rs557916817	245	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1298802159 CA410906489	247	I>T		No	ClinGen TOPMed
rs1050289031 CA322553399	250	Q>*		No	ClinGen Ensembl
CA10144143 rs151005299	251	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs763866561 CA10144144	252	H>R		No	ClinGen ExAC gnomAD
rs1261908814 CA410906557	253	L>V		No	ClinGen gnomAD
rs201706084 CA10144146	255	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773352023 CA10144145	255	G>W		No	ClinGen ExAC gnomAD
CA10144148 rs772361400	257	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1481669996 CA410906646	261	P>R		No	ClinGen gnomAD
CA10144150 rs765622771	261	P>S		No	ClinGen ExAC TOPMed gnomAD
rs752939282 CA10144151	264	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA10144152 rs140846458	264	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	265	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1468267143 CA410906697	265	A>V		No	ClinGen gnomAD
CA10144155 rs370296019	268	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA322553419 rs1010502337	269	H>Y		No	ClinGen gnomAD
rs1347178686 CA410906805	272	R>G		No	ClinGen gnomAD
CA10144156 rs150140416	272	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA410907888 rs1215792636	274	T>I		No	ClinGen gnomAD
rs745535545 CA10144157	274	T>P		No	ClinGen ExAC gnomAD
rs769528725 CA10144158	276	C>R		No	ClinGen ExAC gnomAD
CA322553432 rs980320356	276	C>W		No	ClinGen Ensembl
CA10144159 rs775355671	279	T>N		No	ClinGen ExAC TOPMed gnomAD
rs1569119024 CA410907991	279	T>S		No	ClinGen Ensembl
CA10144160 rs748974266	281	C>*		No	ClinGen ExAC gnomAD
rs927500473 CA322553439	282	L>P		No	ClinGen TOPMed gnomAD
CA10144163 rs761718727	283	G>E		No	ClinGen ExAC TOPMed gnomAD
rs373688687 CA10144162	283	G>R		No	ClinGen ExAC TOPMed gnomAD
CA410908127 rs1420320859	284	D>N		No	ClinGen gnomAD
CA10144165 CA410908214 rs766471580 CA410908215	287	M>I		No	ClinGen ExAC gnomAD
rs759760487 CA10144167	289	A>S		No	ClinGen ExAC gnomAD
CA10144168 rs759760487	289	A>T		No	ClinGen ExAC gnomAD
rs145535096 CA10144169	290	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA410908280 rs1302368339	290	R>W		No	ClinGen TOPMed gnomAD
CA410908363 rs1432810869	292	R>S		No	ClinGen gnomAD
rs1360640881 CA410908389	293	A>G		No	ClinGen gnomAD
CA10144170 rs763293490	293	A>T		No	ClinGen ExAC gnomAD
CA410908403 rs1212356906	294	R>K		No	ClinGen gnomAD
rs764487860 COSM1032592 CA10144171	295	V>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1359774189 CA410908458	296	V>A		No	ClinGen gnomAD
rs17003398 CA10144172 VAR_051907	297	E>K		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs780877935 CA10144174	299	W>*		No	ClinGen ExAC gnomAD
rs868215966 CA322553462	299	W>*		No	ClinGen Ensembl
rs1450323196 CA410908500	299	W>R		No	ClinGen gnomAD
rs374800672 CA10144175	300	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA10144177 rs779627185	302	V>A		No	ClinGen ExAC gnomAD
rs367775238 CA10144179	303	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA322553474 rs940772129	304	R>T		No	ClinGen Ensembl
CA410908671 rs1455603628	305	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs369844839 CA10144198	308	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1254093400 CA410908760	310	N>K		No	ClinGen TOPMed
rs1451357357 CA410908810	314	S>*		No	ClinGen TOPMed gnomAD
CA410908815 rs1451357357	314	S>L		No	ClinGen TOPMed gnomAD
CA410908828 rs1337205509	315	V>E		No	ClinGen gnomAD
CA10144201 rs746917335	316	H>N		No	ClinGen ExAC gnomAD
CA10144202 rs769811435	316	H>P		No	ClinGen ExAC TOPMed gnomAD
rs371995176 CA410908843	316	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA10144205 rs375297006	317	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA10144204 rs763114232	317	V>I		No	ClinGen ExAC TOPMed gnomAD
rs774865464 CA10144206	318	I>V		No	ClinGen ExAC gnomAD
CA10144208 rs767986131	319	V>I		No	ClinGen ExAC TOPMed gnomAD
CA10144209 rs374820141	321	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs373425762 CA10144211	323	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA410908962 rs1178484942	324	S>N		No	ClinGen gnomAD
rs1429987826 CA410908966	324	S>R		No	ClinGen gnomAD
rs753326021 CA10144212	326	P>L		No	ClinGen ExAC gnomAD
CA10144213 rs754601723	327	I>T		No	ClinGen ExAC TOPMed gnomAD
CA10144215 rs752343520	328	G>D		No	ClinGen ExAC TOPMed gnomAD
rs764928076 CA10144214	328	G>R		No	ClinGen ExAC TOPMed gnomAD
rs758231843 CA10144216	329	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA10144218 rs373286449	331	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs377210132 CA10144219	332	K>N		No	ClinGen ESP ExAC gnomAD
CA410909086 rs1408452499	332	K>T		No	ClinGen gnomAD
rs187887632 CA10144220	333	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10144222 rs768602381	334	W>*		No	ClinGen ExAC TOPMed gnomAD
CA410909119 rs768602381	334	W>S		No	ClinGen ExAC TOPMed gnomAD
rs1569119401 CA410909143	335	A>P		No	ClinGen Ensembl
TCGA novel	335	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1341653137 CA410909164	336	G>E		No	ClinGen gnomAD
CA322553654 rs973485204	337	V>A		No	ClinGen Ensembl
CA410909192 rs1227315427	338	S>A		No	ClinGen TOPMed
rs1196617599 CA410909203	338	S>F		No	ClinGen gnomAD
CA410909220 rs1481949072	339	S>I		No	ClinGen gnomAD
rs1481949072 CA410909217	339	S>N		No	ClinGen gnomAD
rs774777823 CA10144223	339	S>R		No	ClinGen ExAC gnomAD
rs774939589 CA10144250	340	K>N		No	ClinGen ExAC gnomAD
rs1363244711 CA410909384	340	K>R		No	ClinGen gnomAD
CA322553804 rs2070449 VAR_016246	342	M>R		No	ClinGen UniProt Ensembl dbSNP
CA410909461 rs762598916	343	K>*		No	ClinGen ExAC TOPMed gnomAD
rs762598916 CA10144251	343	K>E		No	ClinGen ExAC TOPMed gnomAD
rs148165991 CA10144252	344	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751153831 CA10144253	345	L>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	347	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10144254 rs761731558	350	K>R		No	ClinGen ExAC gnomAD
CA10144255 rs767183049	351	K>T		No	ClinGen ExAC gnomAD
CA410909686 rs1462330500	353	T>A		No	ClinGen gnomAD
rs141967976 CA10144256	353	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA410909743 rs1265576836	355	V>A		No	ClinGen gnomAD
rs201370264 CA322553815	357	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs201370264 CA10144258	357	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA10144259 VAR_051908 rs8137247	358	D>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs147310904 CA10144260	360	L>R		No	ClinGen 1000Genomes ExAC gnomAD
CA10144261 rs374309596	362	K>E		No	ClinGen ESP ExAC gnomAD
CA10144262 rs374309596	362	K>Q		No	ClinGen ESP ExAC gnomAD
rs527600048 CA10144329	363	A>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
COSM1415142 CA410910957 rs1411239362	363	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA410910968 rs915224187	364	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA322556785 rs915224187	364	G>V		No	ClinGen TOPMed gnomAD
CA10144331 rs769625983	365	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA10144333 rs762921252	366	F>L		No	ClinGen ExAC TOPMed gnomAD
rs560840365 CA322556795	368	V>A		No	ClinGen Ensembl
CA322556792 rs942612487	368	V>M		No	ClinGen gnomAD
CA410911041 rs1350473449	370	T>I		No	ClinGen gnomAD
CA410911053 rs147460979	371	Q>L		No	ClinGen ESP TOPMed gnomAD
rs147460979 CA322556800	371	Q>P		No	ClinGen ESP TOPMed gnomAD
rs773233566 CA10144337	373	R>T		No	ClinGen ExAC gnomAD
rs760903101 CA10144338	374	N>I		No	ClinGen ExAC gnomAD
CA410911144 rs1569120501	375	P>L		No	ClinGen Ensembl
rs139907115 CA10144339	376	Q>*		No	ClinGen ESP ExAC gnomAD
rs775439936 CA10144341	376	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA10144340 rs371597391	376	Q>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1445527033 CA410911166	377	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA410911177 rs1245037413	377	R>S		No	ClinGen TOPMed
VAR_016247 CA10144342 rs1007298	378	V>A		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA410911185 rs1007298	378	V>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753167992 CA10144344	380	M>K		No	ClinGen ExAC TOPMed gnomAD
rs753167992 CA410911239	380	M>R		No	ClinGen ExAC TOPMed gnomAD
rs753167992 CA322556811	380	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1005229231 CA322556813	383	R>Q		No	ClinGen TOPMed gnomAD
CA10144345 rs764399514 COSM1264089	383	R>W	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1569120545 CA410911320	385	Q>*		No	ClinGen Ensembl
CA322556817 rs375293031	385	Q>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
CA10144347 rs777429110	386	K>N		No	ClinGen ExAC gnomAD
TCGA novel	387	K>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA410911401 rs1408563314	387	K>R		No	ClinGen gnomAD
rs1353464213 CA410911621	389	V>M		No	ClinGen TOPMed
rs1292722439 CA410911641	390	V>A		No	ClinGen TOPMed
TCGA novel	391	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1245887174 CA410911664	391	P>L		No	ClinGen TOPMed gnomAD
CA322556992 rs370689809	392	F>L		No	ClinGen TOPMed
rs771025822 CA10144377	393	L>M		No	ClinGen ExAC gnomAD
COSM1264090 rs776735946 CA10144379	393	L>P	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs776735946 CA10144378	393	L>Q		No	ClinGen ExAC gnomAD
CA410911735 rs1369486307	394	G>E		No	ClinGen gnomAD
CA10144380 rs200800977	395	D>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775558668 CA10144381	396	F>V		No	ClinGen ExAC gnomAD
TCGA novel	397	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763475310 CA10144382	399	E>A		No	ClinGen ExAC TOPMed gnomAD
rs763475310 CA322557001	399	E>G		No	ClinGen ExAC TOPMed gnomAD
rs764518087 CA410911933	401	Q>*		No	ClinGen ExAC gnomAD
rs764518087 CA10144383	401	Q>E		No	ClinGen ExAC gnomAD
rs571180380 CA10144384	402	R>K		No	ClinGen 1000Genomes ExAC gnomAD
CA410911970 rs1313161907	402	R>S		No	ClinGen gnomAD
CA410911998 rs1601290876	404	D>G		No	ClinGen Ensembl
rs117585592 CA10144386	405	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA410912059 rs755568274	407	I>N		No	ClinGen ExAC TOPMed gnomAD
CA10144388 rs755568274	407	I>T		No	ClinGen ExAC TOPMed gnomAD
CA10144389 rs148688645	408	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142172745 CA322557015	409	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs999993670 CA322557012	409	D>N		No	ClinGen TOPMed
CA410912129 rs1257328493	410	D>N		No	ClinGen gnomAD
rs778634435 CA10144392	412	D>A		No	ClinGen ExAC gnomAD
rs748119291 CA10144393	412	D>E		No	ClinGen ExAC gnomAD
CA410912309 rs1409826480	413	G>D		No	ClinGen gnomAD
CA10144412 rs151183975	413	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs151183975 CA10144413	413	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs375983802 CA10144415	415	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs375983802 CA10144414	415	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA10144416 rs779944507	417	K>E		No	ClinGen ExAC gnomAD
rs1422614324 CA410912397	417	K>N		No	ClinGen TOPMed
CA10144417 rs749552271	417	K>R		No	ClinGen ExAC gnomAD
rs768931910 CA410912415	418	R>S		No	ClinGen ExAC gnomAD
CA410912421 rs866037811	419	S>G		No	ClinGen gnomAD
CA322557166 rs866037811	419	S>R		No	ClinGen gnomAD
rs1342117698 CA410913581	421	E>D		No	ClinGen TOPMed
CA10144442 rs577657567	423	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs577657567 CA10144443	423	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM444765 rs769259679 CA10144444	423	R>Q	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs775168849 CA10144445	425	L>V		No	ClinGen ExAC TOPMed
rs1381914639 CA410913737	428	M>L		No	ClinGen gnomAD
CA10144448 rs773950515	429	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA10144449 rs543451821	431	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA10144450 rs767619609	433	V>L		No	ClinGen ExAC
CA10144451 rs750379263	435	A>G		No	ClinGen ExAC gnomAD
CA410913887 rs750379263	435	A>V		No	ClinGen ExAC gnomAD
CA410913896 rs1164810830	436	M>T		No	ClinGen TOPMed
CA10144452 rs755159596	436	M>V		No	ClinGen ExAC TOPMed gnomAD
CA10144453 rs557255955	437	N>D		No	ClinGen 1000Genomes ExAC gnomAD
CA10144457 rs573817618	441	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs758487030 CA10144456	441	R>W		No	ClinGen ExAC TOPMed gnomAD
CA10144458 rs140300821	442	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs757616665 CA10144459	443	L>F		No	ClinGen ExAC gnomAD
CA322557290 rs1035945500	444	E>K		No	ClinGen TOPMed gnomAD
rs145312479 CA410914187	446	F>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145312479 CA10144460	446	F>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA410914175 rs1247441315	446	F>V		No	ClinGen TOPMed
CA410914232 rs1335836165	448	T>N		No	ClinGen TOPMed gnomAD
rs1188289040 CA410914279	449	Y>C		No	ClinGen gnomAD
CA410914341 rs1601292405	451	T>I		No	ClinGen Ensembl
CA410914363 rs1255903737	452	R>S		No	ClinGen TOPMed
CA410914358 rs1449299840	452	R>T		No	ClinGen gnomAD
CA410914383 rs1284108738	453	M>T		No	ClinGen gnomAD
rs774937432 CA10144463	455	Q>*		No	ClinGen ExAC gnomAD
rs774937432 CA410914417	455	Q>K		No	ClinGen ExAC gnomAD
rs146449530 CA10144464	457	S>G		No	ClinGen 1000Genomes ESP TOPMed gnomAD
TCGA novel	457	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1051139481 CA322557299	458	D>G		No	ClinGen Ensembl
rs1601292464 CA410914613	460	E>G		No	ClinGen Ensembl
rs768134410 CA10144468	461	S>T		No	ClinGen ExAC gnomAD
rs745794134 CA10144534	463	K>E		No	ClinGen ExAC gnomAD
CA10144535 rs200791089	463	K>T		No	ClinGen 1000Genomes ExAC gnomAD
CA322557472 rs980551671	466	C>*		No	ClinGen TOPMed gnomAD
rs775392031 CA10144537	466	C>R		No	ClinGen ExAC TOPMed
CA410916509 rs1295975246	466	C>Y		No	ClinGen gnomAD
CA322557475 rs202149033	467	Q>H		No	ClinGen Ensembl
TCGA novel	467	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10144538 rs748293215	469	E>G		No	ClinGen ExAC gnomAD
rs1386967833 CA410916565	469	E>K		No	ClinGen gnomAD
rs77578064 CA10144540	470	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10144543 rs371791871	471	E>K		No	ClinGen ESP ExAC TOPMed
CA10144544 rs76265942	472	N>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765842553 CA10144545	473	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1436647613 CA410916673	474	P>Q		No	ClinGen TOPMed

No associated diseases with Q8IZJ4

1 regional properties for Q8IZJ4

Type	Name	Position	InterPro Accession
domain	Ras guanine-nucleotide exchange factors catalytic domain	215 - 472	IPR001895

Functions

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

2 GO annotations of cellular component

Name	Definition
cytoplasmic vesicle	A vesicle found in the cytoplasm of a cell.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

1 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.

2 GO annotations of biological process

Name	Definition
positive regulation of GTPase activity	Any process that activates or increases the activity of a GTPase.
Ras protein signal transduction	The series of molecular signals within the cell that are mediated by a member of the Ras superfamily of proteins switching to a GTP-bound active state.

16 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q07890	SOS2	Son of sevenless homolog 2	Homo sapiens (Human)	SS
Q07889	SOS1	Son of sevenless homolog 1	Homo sapiens (Human)	EV
Q13905	RAPGEF1	Rap guanine nucleotide exchange factor 1	Homo sapiens (Human)	PR
O95398	RAPGEF3	Rap guanine nucleotide exchange factor 3	Homo sapiens (Human)	EV
Q8WZA2	RAPGEF4	Rap guanine nucleotide exchange factor 4	Homo sapiens (Human)	SS
Q8N431	RASGEF1C	Ras-GEF domain-containing family member 1C	Homo sapiens (Human)	PR
Q8N9B8	RASGEF1A	Ras-GEF domain-containing family member 1A	Homo sapiens (Human)	PR
Q12967	RALGDS	Ral guanine nucleotide dissociation stimulator	Homo sapiens (Human)	PR
O95267	RASGRP1	RAS guanyl-releasing protein 1	Homo sapiens (Human)	EV
Q8TDF6	RASGRP4	RAS guanyl-releasing protein 4	Homo sapiens (Human)	SS
Q7LDG7	RASGRP2	RAS guanyl-releasing protein 2	Homo sapiens (Human)	EV SS
Q8IV61	RASGRP3	Ras guanyl-releasing protein 3	Homo sapiens (Human)	SS
Q86X27	RALGPS2	Ras-specific guanine nucleotide-releasing factor RalGPS2	Homo sapiens (Human)	PR
Q5JS13	RALGPS1	Ras-specific guanine nucleotide-releasing factor RalGPS1	Homo sapiens (Human)	PR
Q03385	Ralgds	Ral guanine nucleotide dissociation stimulator	Mus musculus (Mouse)	PR
Q03386	Ralgds	Ral guanine nucleotide dissociation stimulator	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MRKLLTNLPA	AAVLSAQVYS	AVLQGLWEEN	VCGTPGRTRV	CTALLYGQVC	PFQDSTDGLR
70	80	90	100	110	120
TITSILFNWP	PENTSVYYQP	PQRSSFRIKL	AFRNLSWPGL	GLEDHQEIVL	GQLVLPEPNE
130	140	150	160	170	180
AKPDDPAPRP	GQHALTMPAL	EPAPPLLADL	GPALEPESPA	ALGPPGYLHS	APGPAPAPGE
190	200	210	220	230	240
GPPPGTVLEP	QSAPESSCPC	RGSVKNQPSE	ELPDMTTFPP	RLLAEQLTLM	DAELFKKVVL
250	260	270	280	290	300
HECLGCIWGQ	GHLKGNEHMA	PTVRATIAHF	NRLTNCITTS	CLGDHSMRAR	DRARVVEHWI
310	320	330	340	350	360
KVARECLSLN	NFSSVHVIVS	ALCSNPIGQL	HKTWAGVSSK	SMKELKELCK	KDTAVKRDLL
370	380	390	400	410	420
IKAGSFKVAT	QERNPQRVQM	RLRRQKKGVV	PFLGDFLTEL	QRLDSAIPDD	LDGNTNKRSK
430	440	450	460	470
EVRVLQEMQL	LQVAAMNYRL	RPLEKFVTYF	TRMEQLSDKE	SYKLSCQLEP	ENP