AiPD: Autoinhibited Protein Database

P10911

Gene name	MCF2 (DBL)
Protein name	Proto-oncogene DBL
Names	Proto-oncogene MCF-2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:4168
EC number
Protein Class	RHO GUANINE EXCHANGE FACTOR-RELATED (PTHR22826)

Descriptions

MCF2 protein is the prototype member of a large family of guanine nucleotide exchange factors (GEFs) that modulates the Rho family of GTPases. Removal of the N-terminal region results in a significant increase of MCF2 activity. Specifically, the autoinhibitory region binds to the PH domain, and limits the access of Rho GTPases to the catalytic DH domain and masks the intracellular targeting function of the PH domain.

Autoinhibitory domains (AIDs)

Target domain	687-811 (PH domain)
Relief mechanism	Cleavage
Assay	Deletion assay

AID

286-348 (Autoinhibitory region)

Target domain

687-811 (PH domain)

Relief mechanism

Cleavage (Truncation of an N-terminal autoinhibitory region)

Assay

Deletion assay

Accessory elements

No accessory elements

References

Bi F et al. (2001) "Autoinhibition mechanism of proto-Dbl", Molecular and cellular biology, 21, 1463-74

Autoinhibited structure

Activated structure

1 structures for P10911

Entry ID	Method	Resolution	Chain	Position	Source
AF-P10911-F1	Predicted				AlphaFoldDB

439 variants for P10911

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs970576103 CA414457481	6	P>S		No	ClinGen TOPMed
CA336153409 rs970576103	6	P>T		No	ClinGen TOPMed
rs865955898 CA336153388	7	R>Q		No	ClinGen TOPMed gnomAD
CA10530512 COSM3232485 rs186682047 COSM3232484	7	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs776194667 CA10530511	8	R>S		No	ClinGen ExAC TOPMed gnomAD
rs202152826 CA336153378	12	R>T		No	ClinGen TOPMed gnomAD
rs144414622 CA10530510	17	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA10530492 rs759460638	18	A>S		No	ClinGen ExAC gnomAD
CA10530491 rs776491633	19	S>C		No	ClinGen ExAC gnomAD
rs776491633 CA414456221	19	S>F		No	ClinGen ExAC gnomAD
CA10530490 rs766032824	21	P>L		No	ClinGen ExAC gnomAD
rs535630790 CA336146819	21	P>S		No	ClinGen Ensembl
rs1369889294 CA414456192	22	G>E		No	ClinGen TOPMed gnomAD
rs1391367829 CA414456099	29	V>A		No	ClinGen TOPMed
CA10530488 rs772701528	29	V>I		No	ClinGen ExAC gnomAD
rs747639067 CA10530486	31	R>C		No	ClinGen ExAC gnomAD
rs774898961 COSM1214697 COSM1214698 COSM1214696 CA10530485	31	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA414456083 rs747639067	31	R>S		No	ClinGen ExAC gnomAD
CA414456048 rs1206337400	34	S>N		No	ClinGen gnomAD
CA414455993 rs1264193841	38	R>Q		No	ClinGen gnomAD
rs999142574 CA336146792	39	T>M		No	ClinGen TOPMed
rs943400125 CA336146767	40	F>I		No	ClinGen Ensembl
CA10530482 rs780478403	43	I>V		No	ClinGen ExAC gnomAD
rs757834068 CA10530479	49	Q>P		No	ClinGen 1000Genomes ExAC gnomAD
CA10530478 rs757834068	49	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
CA10530476 rs765331285	55	K>N		No	ClinGen ExAC TOPMed gnomAD
CA10530463 rs759094493	58	V>A		No	ClinGen 1000Genomes ExAC gnomAD
CA414455639 rs1397671645	61	L>V		No	ClinGen TOPMed gnomAD
CA10530462 rs781620912	62	S>G		No	ClinGen ExAC gnomAD
rs757547723 CA10530461	65	S>R		No	ClinGen ExAC gnomAD
rs747172019 CA10530460	66	D>Y		No	ClinGen ExAC gnomAD
rs1159424636 CA414455554	68	L>M		No	ClinGen gnomAD
CA10530458 rs758370103	69	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1046250870 CA336146217	73	D>G		No	ClinGen Ensembl
CA414455414 rs1167384871	79	E>*		No	ClinGen gnomAD
CA414455373 rs1256075718	82	G>D		No	ClinGen gnomAD
CA10530456 rs766208697	85	Q>*		No	ClinGen ExAC gnomAD
CA414455335 rs1248776099	85	Q>H		No	ClinGen gnomAD
CA10530455 rs755999086	85	Q>L		No	ClinGen ExAC gnomAD
rs750217116 CA414455310	89	S>G		No	ClinGen ExAC gnomAD
rs750217116 CA10530454	89	S>R		No	ClinGen ExAC gnomAD
rs767236771 CA10530453	91	W>R		No	ClinGen ExAC gnomAD
rs761464858 CA10530452	93	I>V		No	ClinGen ExAC gnomAD
CA414455228 rs1445438033	98	I>M		No	ClinGen gnomAD
CA414455230 rs1188030223	98	I>T		No	ClinGen gnomAD
rs771375013 CA10530444	98	I>V		No	ClinGen ExAC TOPMed gnomAD
rs747268084 CA10530442	100	N>K		No	ClinGen ExAC gnomAD
CA10530441 rs187282275	102	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA336145396 rs868437250	102	A>V		No	ClinGen Ensembl
rs1290823820 CA414455200	103	L>I		No	ClinGen gnomAD
CA10530440 rs772243393	104	T>R		No	ClinGen ExAC gnomAD
CA336145382 rs1006055089	105	V>A		No	ClinGen Ensembl
rs375671445 CA10530438	108	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370549035 CA10530437	120	A>V		No	ClinGen ESP ExAC gnomAD
CA414455068 rs1324242479	122	T>S		No	ClinGen gnomAD
CA414455063 rs1349628638	123	E>K		No	ClinGen TOPMed
rs370549401 CA10530436	123	E>V		No	ClinGen ExAC TOPMed gnomAD
rs1387043421 CA414455056	124	L>V		No	ClinGen gnomAD
CA336145346 rs949488175	126	D>G		No	ClinGen TOPMed gnomAD
rs757003647 CA10530434	127	D>N		No	ClinGen ExAC gnomAD
rs1167962309 CA414455028	128	I>S		No	ClinGen gnomAD
rs751248801 CA10530433	128	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1226618698 CA414455025	129	P>A		No	ClinGen TOPMed
CA10530431 rs762581221	131	I>T		No	ClinGen ExAC
rs763628715 CA10530432	131	I>V		No	ClinGen ExAC gnomAD
CA10530430 rs752144041	136	A>T		No	ClinGen ExAC gnomAD
CA414454967 rs1267860187	138	R>C		No	ClinGen TOPMed gnomAD
CA336145308 COSM3713790 COSM3713789 rs1026226998 COSM3713791	138	R>H	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
CA336145302 rs752492766	141	R>S		No	ClinGen Ensembl
rs760143746 CA10530428	143	H>L		No	ClinGen ExAC gnomAD
CA414454926 rs1308221562	144	L>P		No	ClinGen TOPMed
CA10530427 rs777238965	146	K>R		No	ClinGen ExAC gnomAD
rs1465683897 CA414454372	147	N>K		No	ClinGen TOPMed gnomAD
CA10530417 rs201688287	148	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1184699155 CA414454326	152	V>L		No	ClinGen gnomAD
rs1484502257 CA414454307	153	T>I		No	ClinGen gnomAD
rs767855478 CA336143474	154	K>E		No	ClinGen 1000Genomes
rs781071959 CA10530416	155	E>D		No	ClinGen ExAC gnomAD
rs759829962 CA10530415	158	I>N		No	ClinGen 1000Genomes ExAC gnomAD
COSM1116042 CA10530413 COSM1116041 COSM1598958 rs777548806	159	L>M	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1178632645 CA414454215	162	N>D		No	ClinGen TOPMed
CA10530412 rs769392560	162	N>K		No	ClinGen ExAC gnomAD
COSM204847 COSM1145594 COSM204848 rs921045098 CA336143447	163	L>M	lung large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
CA414454187 rs1405128452	164	E>A		No	ClinGen TOPMed
rs764686079 CA10530410	166	P>A		No	ClinGen ExAC gnomAD
rs1418042480 CA414454160	166	P>L		No	ClinGen TOPMed
CA414454159 rs1229910113	167	D>N		No	ClinGen gnomAD
CA414454137 rs1203401664	168	T>I		No	ClinGen gnomAD
CA10530408 rs747763392	169	E>D		No	ClinGen ExAC TOPMed gnomAD
rs766980072 CA10530407	170	G>V		No	ClinGen ExAC gnomAD
rs761192668 CA10530406	171	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1334840666 CA414454092	172	V>L		No	ClinGen gnomAD
rs974235619 CA336143401	175	R>G		No	ClinGen Ensembl
rs199785790 CA10530405	177	E>G		No	ClinGen 1000Genomes ExAC gnomAD
CA336143376 rs377492032	180	R>G		No	ClinGen ExAC gnomAD
CA10530403 rs761966957	180	R>Q		No	ClinGen ExAC gnomAD
CA10530404 rs377492032	180	R>W		No	ClinGen ExAC gnomAD
CA10530402 rs201636854	184	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA414453898 rs1157802112	185	D>N		No	ClinGen gnomAD
CA414453894 rs1157802112	185	D>Y		No	ClinGen gnomAD
CA10530401 rs147593593	186	W>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA10530400 rs749344161	187	Q>K		No	ClinGen ExAC gnomAD
CA414453855 rs1188239400	187	Q>R		No	ClinGen gnomAD
COSM1151494 rs776605373 COSM755154 CA10530399	188	T>A	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA414453802 rs1305410977	190	N>S		No	ClinGen gnomAD
rs1398731059 CA414453715	192	L>F		No	ClinGen gnomAD
rs1603292516 CA414453683	195	Q>*		No	ClinGen Ensembl
CA10530388 rs149874770	196	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs753397872 CA10530387	199	M>T		No	ClinGen ExAC gnomAD
CA10530386 rs765923197	202	A>T		No	ClinGen ExAC
CA336143163 rs904939180	210	H>R		No	ClinGen TOPMed
CA414453366 rs1603292503	212	L>I		No	ClinGen Ensembl
rs1443976487 CA414453331	214	M>L		No	ClinGen gnomAD
CA414453313 rs1450577486	215	E>K		No	ClinGen TOPMed
CA414453268 rs1336591106	217	Y>C		No	ClinGen TOPMed
rs1382808239 CA414453231	219	Q>R		No	ClinGen TOPMed gnomAD
CA10530384 rs750897234	220	L>P		No	ClinGen ExAC gnomAD
rs1241153718 CA414453124	225	Q>R		No	ClinGen gnomAD
CA10530383 rs767800503	228	Q>K		No	ClinGen ExAC gnomAD
CA336139849 rs867446791	233	E>G		No	ClinGen Ensembl
CA414451322 rs1429812404	233	E>K		No	ClinGen gnomAD
rs1418231081 CA414451300	234	V>I		No	ClinGen TOPMed gnomAD
CA414451248 rs1194729187	236	F>L		No	ClinGen TOPMed
CA336139809 rs935888287	239	N>D		No	ClinGen Ensembl
rs925881773 CA336139807	239	N>K		No	ClinGen Ensembl
rs369857538 CA10530366	243	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA414451053 rs1476866190	244	L>P		No	ClinGen TOPMed
rs750930370 CA10530365	248	T>R		No	ClinGen ExAC
CA10530364 rs781705774	252	A>V		No	ClinGen ExAC gnomAD
rs751944962 CA10530362	254	V>E		No	ClinGen ExAC gnomAD
CA10530363 rs757617952	254	V>I		No	ClinGen ExAC gnomAD
rs764374301 CA10530361	255	K>E		No	ClinGen ExAC TOPMed gnomAD
CA414450797 rs12387194	256	Q>E		No	ClinGen TOPMed gnomAD
rs12387194 CA336139754	256	Q>K		No	ClinGen TOPMed gnomAD
rs1050496905 CA336139749	257	K>Q		No	ClinGen TOPMed
COSM4156611 COSM4156613 CA414450757 rs1206569513 COSM4156612	258	I>K	thyroid [Cosmic]	No	ClinGen cosmic curated gnomAD
CA414450759 rs1206569513	258	I>R		No	ClinGen gnomAD
rs752866719 CA10530359	261	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1312363110 CA414450713	262	E>*		No	ClinGen Ensembl
rs765331695 CA10530358	263	N>D		No	ClinGen ExAC gnomAD
CA10530357 rs759639000	264	L>F		No	ClinGen ExAC TOPMed gnomAD
CA414450053 rs1569360561	275	A>S		No	ClinGen Ensembl
CA414450009 rs1221968708	281	H>R		No	ClinGen gnomAD
rs1603287807 CA414449981	285	L>F		No	ClinGen Ensembl
rs1391851455 CA414449944	290	H>L		No	ClinGen gnomAD
CA414449924 rs1372545840	293	L>H		No	ClinGen gnomAD
CA414449912 rs1603287787	295	L>V		No	ClinGen Ensembl
rs1308827831 CA414449879	299	R>K		No	ClinGen gnomAD
CA336138710 rs866156847	299	R>S		No	ClinGen Ensembl
COSM321619 rs769900769 COSM321618 CA10530337	304	R>C	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs769900769 CA414449847	304	R>G		No	ClinGen ExAC TOPMed gnomAD
CA10530336 COSM1556411 COSM1556410 COSM1556412 rs774395454	304	R>H	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA10530335 rs774395454	304	R>P		No	ClinGen ExAC gnomAD
rs768615312 CA10530334	305	Y>H		No	ClinGen ExAC gnomAD
rs1276173180 CA414449826	308	D>N		No	ClinGen TOPMed
rs1189050232 CA414449813	309	I>T		No	ClinGen TOPMed
CA10530333 RCV000884276 rs61752695	313	E>K		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs868710048 CA336138668 COSM1466005 COSM1466004 COSM1466006	315	K>E	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
COSM3843751 CA10530332 rs747955460 COSM3843752 COSM3843750	318	R>W	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1160315126 CA414449749	319	I>V		No	ClinGen gnomAD
CA336138654 rs776352896	321	L>F		No	ClinGen 1000Genomes TOPMed
CA10530331 rs769480780	327	M>I		No	ClinGen ExAC TOPMed gnomAD
rs745443095 CA10530330	329	K>T		No	ClinGen ExAC
CA414449669 rs1406420520	330	L>F		No	ClinGen gnomAD
CA414449657 rs780766479	332	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs780766479 CA10530329	332	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA414449656 rs1242653454	332	Q>R		No	ClinGen gnomAD
rs895735158 CA336138634	333	Q>K		No	ClinGen TOPMed
rs1275224551 CA414449623	335	R>C		No	ClinGen TOPMed
rs200810024 CA10530309	335	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA414449621 rs200810024	335	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA10530308 rs764882071	343	C>Y		No	ClinGen ExAC gnomAD
CA414449550 rs1381342673	345	L>P		No	ClinGen gnomAD
rs759252694 CA10530307	346	A>S		No	ClinGen ExAC gnomAD
rs1469770026 CA414449516	350	I>T		No	ClinGen TOPMed
CA10530305 rs755254972	351	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1569359508 CA414449508	351	D>G		No	ClinGen Ensembl
rs1425786540 CA414449510	351	D>Y		No	ClinGen gnomAD
rs1034172291 CA336138068	357	E>Q		No	ClinGen TOPMed
CA10530302 rs772574390	358	D>G		No	ClinGen ExAC gnomAD
CA10530303 rs142028750	358	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs371783595 CA10530301	359	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA10530300 rs779360080	361	K>R		No	ClinGen ExAC gnomAD
rs975544350 CA336138025	362	A>D		No	ClinGen Ensembl
CA336138040 rs986842358	362	A>T		No	ClinGen Ensembl
rs1426990364 CA414449398	367	E>G		No	ClinGen gnomAD
rs41304534 RCV000882436 CA10530299	367	E>K		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA414449356 rs1603287149	372	M>I		No	ClinGen Ensembl
CA414449354 rs1259340519	373	A>T		No	ClinGen gnomAD
CA10530297 rs780121137	374	L>Q		No	ClinGen ExAC TOPMed gnomAD
rs1290939510 CA414449331	375	P>L		No	ClinGen gnomAD
CA336138013 rs866079188	375	P>S		No	ClinGen Ensembl
rs1220228633 CA414449325	376	F>L		No	ClinGen gnomAD
CA10530296 rs756317631	381	P>H		No	ClinGen ExAC TOPMed gnomAD
rs1340823541 CA414449234	381	P>S		No	ClinGen gnomAD
rs750522202 CA10530295	383	T>A		No	ClinGen ExAC TOPMed gnomAD
CA10530294 rs767635811	384	L>R		No	ClinGen ExAC
rs539581227 CA336137976	385	Q>K		No	ClinGen gnomAD
CA414449162 rs1335008736	386	Y>C		No	ClinGen TOPMed gnomAD
CA10530293 rs758421078	387	E>A		No	ClinGen ExAC TOPMed gnomAD
CA414449109 rs1301732868	389	D>A		No	ClinGen gnomAD
CA336137971 rs1028419432	389	D>Y		No	ClinGen gnomAD
rs201095817 CA10530292	390	V>E		No	ClinGen 1000Genomes ExAC gnomAD
rs765110121 CA10530291	391	I>V		No	ClinGen ExAC gnomAD
CA10530290 rs759220167	392	L>V		No	ClinGen ExAC gnomAD
rs776393207 CA10530289	395	E>G		No	ClinGen ExAC gnomAD
CA414448865 rs1389737757	398	V>I		No	ClinGen gnomAD
rs371051614 CA10530271	400	M>V		No	ClinGen ESP ExAC
CA10530269 rs760344891	403	I>M		No	ClinGen ExAC TOPMed gnomAD
CA10530270 rs780636666	403	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA414448738 rs750040567	404	Q>H		No	ClinGen ExAC gnomAD
CA414448758 rs1469512231	404	Q>K		No	ClinGen gnomAD
rs1056884414 CA414448701	407	L>F		No	ClinGen TOPMed gnomAD
CA414448696 rs1471084238	407	L>H		No	ClinGen TOPMed gnomAD
CA336137500 rs1056884414	407	L>I		No	ClinGen TOPMed gnomAD
rs1217259898 CA414448686	408	E>*		No	ClinGen TOPMed
rs368001722 COSM1466003 COSM1116020 COSM1116019 CA10530266	411	R>Q	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
CA10530264 rs769035405	413	I>M		No	ClinGen ExAC gnomAD
rs146348305 CA10530265	413	I>V		No	ClinGen ESP ExAC gnomAD
rs763447201 CA10530263	417	Q>R		No	ClinGen ExAC gnomAD
rs1179039969 CA414448540	418	Q>H		No	ClinGen gnomAD
rs780816942 CA10530261	425	A>T		No	ClinGen ExAC gnomAD
rs781532135 CA10530259	431	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1481191202 CA414448454	431	P>S		No	ClinGen gnomAD
rs747046686 CA10530257	432	I>M		No	ClinGen ExAC TOPMed gnomAD
rs771182957 CA10530258	432	I>V		No	ClinGen ExAC TOPMed gnomAD
CA336137435 rs921254077	435	V>M		No	ClinGen Ensembl
CA414448422 rs1271051631	436	V>E		No	ClinGen TOPMed
rs975436462 CA336137426	436	V>I		No	ClinGen Ensembl
CA10530256 rs777843125	438	T>I		No	ClinGen ExAC gnomAD
CA414448412 rs1452118821	438	T>P		No	ClinGen gnomAD
COSM1466001 CA10530255 rs754885951 COSM1466000 COSM1466002	443	V>A	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1198480825 CA414448373	444	T>A		No	ClinGen TOPMed
CA336137404 rs968102804	445	S>T		No	ClinGen Ensembl
CA336137389 rs915344335	448	P>S		No	ClinGen Ensembl
CA336137375 rs868781538	451	S>L		No	ClinGen Ensembl
rs1569355916 CA414445160	460	R>T		No	ClinGen Ensembl
CA10530239 rs773189304	467	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1225634875 CA414444535	473	D>H		No	ClinGen gnomAD
rs112499176 CA336134050	474	C>Y		No	ClinGen Ensembl
rs777148876 CA10530224	476	E>D		No	ClinGen ExAC gnomAD
CA10530225 rs760043795	476	E>K		No	ClinGen ExAC gnomAD
CA414444279 rs1328838851	487	D>G		No	ClinGen gnomAD
rs1001608201 CA336133998	488	N>D		No	ClinGen Ensembl
CA10530219 rs748249666	491	S>R		No	ClinGen ExAC TOPMed gnomAD
CA10530218 COSM3713785 rs775477554 COSM3713787 COSM3713786	494	V>A	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA10530217 rs769723767	495	L>*		No	ClinGen ExAC gnomAD
rs774431447 CA414442952	497	N>K		No	ClinGen ExAC TOPMed gnomAD
CA414442944 rs1378494364	498	H>Y		No	ClinGen TOPMed gnomAD
COSM1257443 CA10530200 rs759504777 COSM1257442 COSM1257444	499	V>I	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs759504777 CA10530199	499	V>L		No	ClinGen ExAC gnomAD
CA10530197 rs770682928	501	N>K		No	ClinGen ExAC TOPMed gnomAD
rs142164930 CA10530196	503	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs371702775 CA336132537	507	E>G		No	ClinGen ESP TOPMed gnomAD
CA10530193 rs747753946	512	R>G		No	ClinGen ExAC gnomAD
rs1216354437 CA414442613	512	R>L		No	ClinGen gnomAD
rs1216354437 COSM1715650 COSM1715651 COSM1715649 CA414442630	512	R>Q	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs778596819 CA10530192	515	Y>C		No	ClinGen ExAC gnomAD
rs1339783605 CA414442546	516	T>A		No	ClinGen TOPMed
rs1229107672 CA414442513	517	V>A		No	ClinGen TOPMed
rs754443137 CA10530190	518	L>F		No	ClinGen ExAC gnomAD
rs1313893732 CA414442494	518	L>S		No	ClinGen TOPMed gnomAD
rs747841911 CA10530174	520	G>C		No	ClinGen ExAC TOPMed gnomAD
rs1338972582 CA414442298	521	Y>C		No	ClinGen TOPMed gnomAD
rs1338972582 CA414442301	521	Y>S		No	ClinGen TOPMed gnomAD
rs908085189 CA336132019	523	A>V		No	ClinGen TOPMed
CA10530172 rs768337505	525	M>I		No	ClinGen ExAC gnomAD
rs748799255 CA10530171	526	D>G		No	ClinGen ExAC gnomAD
rs1451077750 CA414442086	530	M>T		No	ClinGen TOPMed
rs1336663086 CA414442074	531	F>L		No	ClinGen TOPMed
CA414442038 rs1405735051	532	D>H		No	ClinGen TOPMed gnomAD
CA414442041 rs1405735051	532	D>N		No	ClinGen TOPMed gnomAD
rs779360843 CA10530170	534	M>I		No	ClinGen ExAC gnomAD
CA336131999 rs1038292007	544	I>S		No	ClinGen Ensembl
CA414441667 rs1373851013	550	A>G		No	ClinGen gnomAD
rs756653985 CA10530169	551	E>K		No	ClinGen ExAC gnomAD
rs138848436 CA10530168	555	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs751831561 CA10530165	558	D>A		No	ClinGen ExAC gnomAD
rs1490499414 CA414441442	558	D>N		No	ClinGen TOPMed gnomAD
COSM3964769 rs746430483 COSM3964771 COSM3964770 CA10530149	561	L>F	lung [Cosmic]	No	ClinGen cosmic curated ExAC
rs1031276028 CA336131829	562	S>I		No	ClinGen TOPMed
rs757678257 CA10530147	566	N>D		No	ClinGen ExAC gnomAD
CA414440958 rs1343052306	569	H>R		No	ClinGen TOPMed
CA10530146 rs61751333	569	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs758632363 CA10530144	571	P>S		No	ClinGen ExAC gnomAD
rs765398158 CA10530142	581	R>K		No	ClinGen ExAC gnomAD
rs758285535 CA336130707	583	D>Y		No	ClinGen 1000Genomes gnomAD
CA414440442 rs950464765	584	D>E		No	ClinGen TOPMed gnomAD
CA414440294 rs1352052939	589	A>T		No	ClinGen gnomAD
rs149562038 RCV000914501 RCV000418878 CA10530127	594	N>D		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs758658484 CA10530126	595	K>R		No	ClinGen ExAC gnomAD
rs755151575 CA10530123	601	I>M		No	ClinGen ExAC gnomAD
rs753865095 CA10530122	602	W>*		No	ClinGen ExAC gnomAD
rs911042155 CA414439899	604	K>N		No	ClinGen TOPMed gnomAD
CA414439793 COSM1556423 rs202133857 COSM1556422 COSM1556424	609	A>S	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA10530120 rs202133857	609	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA414439703 rs1569350727	612	Q>R		No	ClinGen Ensembl
rs1297475353 CA414438206	618	L>S		No	ClinGen gnomAD
rs994424884 CA336129284	623	R>T		No	ClinGen TOPMed gnomAD
rs770250622 CA10530107	634	R>*		No	ClinGen 1000Genomes ExAC gnomAD
rs370241205 CA414437753	634	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs370241205 CA10530106	634	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA414437566 rs1411176542	641	L>F		No	ClinGen gnomAD
CA10530093 rs760165023	644	E>K		No	ClinGen ExAC gnomAD
CA336129013 rs914633270	650	K>T		No	ClinGen TOPMed
CA336129009 rs866227247	654	G>E		No	ClinGen Ensembl
CA414436299 rs1415080473	654	G>R		No	ClinGen TOPMed
CA10530090 rs762262000	655	S>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1399946815 CA414436246	656	A>S		No	ClinGen gnomAD
CA414436064 rs1556020010	662	L>F		No	ClinGen Ensembl
CA10530087 rs749558275	663	D>N		No	ClinGen ExAC TOPMed gnomAD
CA414435965 rs1234709874	665	M>I		No	ClinGen gnomAD
CA10530086 rs780405824	665	M>L		No	ClinGen ExAC gnomAD
rs745942329 CA10530084	667	D>H		No	ClinGen ExAC gnomAD
CA414435809 rs1328580247	671	S>L		No	ClinGen TOPMed
rs374626307 CA10530083	671	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA10530081 rs748069949	672	V>I		No	ClinGen ExAC gnomAD
rs970199606 CA336128939	675	S>A		No	ClinGen Ensembl
rs1603277753 CA414435607	678	Q>H		No	ClinGen Ensembl
rs1603277752 CA414435558	681	I>V		No	ClinGen Ensembl
rs866464492 CA336128925	685	I>T		No	ClinGen TOPMed gnomAD
CA10530072 rs774887122	688	L>V		No	ClinGen ExAC gnomAD
CA414435287 rs1240220699	689	N>K		No	ClinGen TOPMed gnomAD
rs1297958360 CA414435279	690	E>D		No	ClinGen TOPMed
rs764418861 CA10530071	694	M>V		No	ClinGen ExAC gnomAD
CA414435247 rs1306586169	695	I>L		No	ClinGen gnomAD
rs763401630 CA10530070	698	G>S		No	ClinGen ExAC TOPMed gnomAD
CA10530069 rs775923087	699	G>E		No	ClinGen ExAC gnomAD
rs1446383269 CA414435204	701	S>N		No	ClinGen TOPMed gnomAD
rs376642680 CA10530067	702	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs376642680 CA336128674	702	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA10530066 rs776597928	704	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1378590343 CA414435178	705	G>R		No	ClinGen gnomAD
CA10530064 rs748076950	706	H>R		No	ClinGen ExAC TOPMed gnomAD
rs142205898 CA10530063 RCV000973005	709	G>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1181062164 CA414435111	710	A>D		No	ClinGen gnomAD
rs1243749919 CA414435094	711	T>I		No	ClinGen gnomAD
CA10530061 rs1217294235	715	D>Y		No	ClinGen gnomAD
rs1173639753 CA414434986	718	R>T		No	ClinGen TOPMed
rs1002814250 CA336128634	719	F>L		No	ClinGen Ensembl
rs1053431026 CA336128640	719	F>Y		No	ClinGen Ensembl
CA10530060 rs369191263	720	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA414434948 rs749084963	721	P>S		No	ClinGen ExAC gnomAD
CA10530059 rs749084963	721	P>T		No	ClinGen ExAC gnomAD
CA414434898 rs1432735450	725	H>R		No	ClinGen TOPMed
CA414434859 rs1311655803	728	L>V		No	ClinGen gnomAD
CA336128610 rs866761512	730	E>K		No	ClinGen Ensembl
rs1399956033 CA414434704	738	R>S		No	ClinGen TOPMed gnomAD
CA336128590 rs777439449	739	R>C		No	ClinGen 1000Genomes TOPMed
CA10530054 rs766972582	739	R>H		No	ClinGen ExAC gnomAD
CA10530053 rs756765137	740	V>F		No	ClinGen ExAC gnomAD
rs1402613865 CA414434660	745	G>D		No	ClinGen gnomAD
CA414434658 rs1402613865	745	G>V		No	ClinGen gnomAD
rs1458535320 CA414434644	747	D>G		No	ClinGen TOPMed gnomAD
CA414434646 rs1458535320	747	D>V		No	ClinGen TOPMed gnomAD
rs1163004653 CA414434620	750	P>L		No	ClinGen TOPMed gnomAD
CA10530050 rs377589857	753	S>N		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs776012638 CA10530049	753	S>R		No	ClinGen ExAC gnomAD
CA10530048 rs148399555	756	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1040589967 CA336160500	763	V>I		No	ClinGen Ensembl
CA336160470 rs944979914	765	I>N		No	ClinGen Ensembl
CA414452579 rs1226807032	766	T>A		No	ClinGen TOPMed
rs779852964 CA10530037	767	E>D		No	ClinGen ExAC gnomAD
CA10530036 rs769543356	773	N>S		No	ClinGen ExAC gnomAD
rs745552961 CA10530035	774	R>C		No	ClinGen ExAC gnomAD
rs780887382 CA414452469	774	R>H		No	ClinGen ExAC TOPMed gnomAD
CA10530034 rs780887382	774	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1266092133 CA414452386	780	Y>C		No	ClinGen gnomAD
rs868555611 CA336160404	782	E>K		No	ClinGen Ensembl
CA414452352 rs1200615989	783	K>E		No	ClinGen TOPMed
COSM3379426 CA414452338 COSM3379428 COSM3379427 rs1256674393	784	E>K	pancreas [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1189039682 CA414452323	785	E>K		No	ClinGen gnomAD
CA10530032 rs751087825	786	V>F		No	ClinGen ExAC gnomAD
RCV000958375 CA10530031 rs73634052	788	I>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs758997676 CA10530030	789	V>I		No	ClinGen ExAC
CA414452251 rs1204916106	790	Q>R		No	ClinGen TOPMed
CA414452135 rs1242394033	793	N>D		No	ClinGen gnomAD
rs1354566858 CA414452103	795	D>V		No	ClinGen gnomAD
rs1323779247 CA414452068	798	M>L		No	ClinGen gnomAD
CA10530004 rs766601874	799	T>K		No	ClinGen ExAC gnomAD
CA10530005 rs766601874	799	T>M		No	ClinGen ExAC gnomAD
rs766887825 CA336159516	805	R>G		No	ClinGen TOPMed
CA414451947 rs1478521760	807	I>V		No	ClinGen TOPMed
CA414451888 rs1335940506	811	Q>H		No	ClinGen gnomAD
rs763530540 CA336159510	811	Q>P		No	ClinGen Ensembl
rs1026638513 CA336159509	815	L>M		No	ClinGen TOPMed gnomAD
rs978892103 CA336159128	819	K>T		No	ClinGen Ensembl
CA10529989 rs755530975	820	R>G		No	ClinGen ExAC TOPMed gnomAD
CA414451704 rs1569340755	822	Q>*		No	ClinGen Ensembl
rs1415498157 CA414451661	825	Q>K		No	ClinGen gnomAD
CA414451622 rs1340669814	828	E>G		No	ClinGen TOPMed
rs372568428 CA10529987	829	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1636810 CA10529985 COSM1636808 COSM1636809 rs750698640	829	R>Q	bone [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs372568428 CA10529986	829	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1331215 CA414451581 COSM1331214 rs1569340694 COSM1331213	831	K>N	ovary [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1196411211 CA414451577	832	F>L		No	ClinGen gnomAD
rs757407610 CA10529983	834	I>T		No	ClinGen ExAC gnomAD
rs1263182697 CA414451540	835	S>T		No	ClinGen gnomAD
rs913411449 CA336159089	835	S>Y		No	ClinGen TOPMed gnomAD
CA414451526 rs1219088159	836	L>H		No	ClinGen TOPMed
rs1453448554 CA414451509	837	Q>H		No	ClinGen gnomAD
rs1259926027 CA414451493	839	N>H		No	ClinGen TOPMed
rs983192815 CA336158374	843	Q>E		No	ClinGen Ensembl
CA414451365 rs1260313843	844	Q>*		No	ClinGen gnomAD
CA336158373 rs1022341496	845	G>R		No	ClinGen TOPMed
rs1369324713 CA414451342	846	A>T		No	ClinGen TOPMed
rs1470158373 CA414451310	848	I>L		No	ClinGen gnomAD
rs1470158373 CA414451306	848	I>L		No	ClinGen gnomAD
rs780410319 CA10529969	849	S>N		No	ClinGen ExAC gnomAD
rs1257315735 CA414451266	851	E>K		No	ClinGen gnomAD
rs1369037378 CA414451208	854	E>Q		No	ClinGen gnomAD
CA414451185 rs1352157688	855	L>W		No	ClinGen TOPMed
rs201181200 CA10529966	858	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs757497661 CA10529965	859	S>N		No	ClinGen ExAC TOPMed gnomAD
CA414450970 rs764275180	869	A>E		No	ClinGen ExAC TOPMed gnomAD
rs1400064870 CA414450979	869	A>T		No	ClinGen gnomAD
rs764275180 CA10529963	869	A>V		No	ClinGen ExAC TOPMed gnomAD
CA414450932 rs1416664683	872	Q>E		No	ClinGen gnomAD
rs758386691 CA10529960	877	T>A		No	ClinGen ExAC TOPMed gnomAD
CA414450535 rs1159425373	880	T>S		No	ClinGen gnomAD
CA414450477 rs1449087111	889	S>P		No	ClinGen TOPMed
rs1359741267 CA414450454	892	P>L		No	ClinGen gnomAD
CA10529943 rs747305680	892	P>T		No	ClinGen ExAC
CA10529942 rs777519579	893	A>V		No	ClinGen ExAC TOPMed gnomAD
rs922944323 CA336157758	897	S>N		No	ClinGen Ensembl
CA414450404 rs1346277561	899	Y>C		No	ClinGen TOPMed
CA336157752 rs371299468	902	P>S		No	ClinGen ESP TOPMed
rs756152094 CA10529938	905	D>G		No	ClinGen ExAC gnomAD
rs1364924958 CA414450358	906	E>K		No	ClinGen TOPMed
CA414450343 rs1209373836	907	N>K		No	ClinGen TOPMed gnomAD
CA10529937 rs750354382	909	E>G		No	ClinGen ExAC TOPMed gnomAD
CA336157728 rs373744816	910	E>*		No	ClinGen ESP TOPMed
COSM1115974 COSM1115973 CA336157724 rs764011158	913	P>S	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes
CA414450292 rs1240331741	915	M>V		No	ClinGen gnomAD
rs150638729 CA10529920	916	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1115971 COSM1115970 CA10529919 rs758379764 COSM1598974	919	S>L	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs781266966 CA10529918	922	A>G		No	ClinGen ExAC TOPMed gnomAD
rs374233217 CA10529915	925	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs148114792 CA10529916	925	Y>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD

1 associated diseases with P10911

Without disease ID

4 regional properties for P10911

Type	Name	Position	InterPro Accession
domain	Dbl homology (DH) domain	495 - 675	IPR000219
conserved_site	Guanine-nucleotide dissociation stimulator, CDC24, conserved site	624 - 649	IPR001331
domain	Pleckstrin homology domain	687 - 811	IPR001849
repeat	Spectrin/alpha-actinin	221 - 416	IPR018159

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm ;
PANTHER Family	PTHR22826	RHO GUANINE EXCHANGE FACTOR-RELATED
PANTHER Subfamily	PTHR22826:SF146	PROTO-ONCOGENE DBL
PANTHER Protein Class	guanyl-nucleotide exchange factor G-protein modulator
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoskeleton	A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.

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.

5 GO annotations of biological process

Name	Definition
cellular response to leukemia inhibitory factor	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a leukemia inhibitory factor stimulus.
dendrite development	The process whose specific outcome is the progression of the dendrite over time, from its formation to the mature structure.
intracellular signal transduction	The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.
negative regulation of axonogenesis	Any process that stops, prevents, or reduces the frequency, rate or extent of axonogenesis.
regulation of small GTPase mediated signal transduction	Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction.

12 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q86YR7	MCF2L2	Probable guanine nucleotide exchange factor MCF2L2	Homo sapiens (Human)	SS
O75962	TRIO	Triple functional domain protein	Homo sapiens (Human)	EV
O60229	KALRN	Kalirin	Homo sapiens (Human)	SS
Q86VW2	ARHGEF25	Rho guanine nucleotide exchange factor 25	Homo sapiens (Human)	EV
O15068	MCF2L	Guanine nucleotide exchange factor DBS	Homo sapiens (Human)	SS
Q0KL02	Trio	Triple functional domain protein	Mus musculus (Mouse)	SS
Q64096	Mcf2l	Guanine nucleotide exchange factor DBS	Mus musculus (Mouse)	SS
A2CG49	Kalrn	Kalirin	Mus musculus (Mouse)	SS
F1M0Z1	Trio	Triple functional domain protein	Rattus norvegicus (Rat)	SS
Q63406	Mcf2l	Guanine nucleotide exchange factor DBS	Rattus norvegicus (Rat)	SS
P97924	Kalrn	Kalirin	Rattus norvegicus (Rat)	SS
Q1LUA6	trio	Triple functional domain protein	Danio rerio (Zebrafish) (Brachydanio rerio)	SS

10	20	30	40	50	60
MAEANPRRGK	MRFRRNAASF	PGNLHLVLVL	RPTSFLQRTF	TDIGFWFSQE	DFMLKLPVVM
70	80	90	100	110	120
LSSVSDLLTY	IDDKQLTPEL	GGTLQYCHSE	WIIFRNAIEN	FALTVKEMAQ	MLQSFGTELA
130	140	150	160	170	180
ETELPDDIPS	IEEILAIRAE	RYHLLKNDIT	AVTKEGKILL	TNLEVPDTEG	AVSSRLECHR
190	200	210	220	230	240
QISGDWQTIN	KLLTQVHDME	TAFDGFWEKH	QLKMEQYLQL	WKFEQDFQQL	VTEVEFLLNQ
250	260	270	280	290	300
QAELADVTGT	IAQVKQKIKK	LENLDENSQE	LLSKAQFVIL	HGHKLAANHH	YALDLICQRC
310	320	330	340	350	360
NELRYLSDIL	VNEIKAKRIQ	LSRTFKMHKL	LQQARQCCDE	GECLLANQEI	DKFQSKEDAQ
370	380	390	400	410	420
KALQDIENFL	EMALPFINYE	PETLQYEFDV	ILSPELKVQM	KTIQLKLENI	RSIFENQQAG
430	440	450	460	470	480
FRNLADKHVR	PIQFVVPTPE	NLVTSGTPFF	SSKQGKKTWR	QNQSNLKIEV	VPDCQEKRSS
490	500	510	520	530	540
GPSSSLDNGN	SLDVLKNHVL	NELIQTERVY	VRELYTVLLG	YRAEMDNPEM	FDLMPPLLRN
550	560	570	580	590	600
KKDILFGNMA	EIYEFHNDIF	LSSLENCAHA	PERVGPCFLE	RKDDFQMYAK	YCQNKPRSET
610	620	630	640	650	660
IWRKYSECAF	FQECQRKLKH	RLRLDSYLLK	PVQRITKYQL	LLKELLKYSK	DCEGSALLKK
670	680	690	700	710	720
ALDAMLDLLK	SVNDSMHQIA	INGYIGNLNE	LGKMIMQGGF	SVWIGHKKGA	TKMKDLARFK
730	740	750	760	770	780
PMQRHLFLYE	KAIVFCKRRV	ESGEGSDRYP	SYSFKHCWKM	DEVGITEYVK	GDNRKFEIWY
790	800	810	820	830	840
GEKEEVYIVQ	ASNVDVKMTW	LKEIRNILLK	QQELLTVKKR	KQQDQLTERD	KFQISLQQND
850	860	870	880	890	900
EKQQGAFIST	EETELEHTST	VVEVCEAIAS	VQAEANTVWT	EASQSAEISE	EPAEWSSNYF
910	920
YPTYDENEEE	NRPLMRPVSE	MALLY