AiPD: Autoinhibited Protein Database

Q8IZ81

Gene name	ELMOD2
Protein name	ELMO domain-containing protein 2
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:255520
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

24-181 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

24-181 (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 Q8IZ81

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8IZ81-F1	Predicted				AlphaFoldDB

219 variants for Q8IZ81

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA204090 RCV000190144 rs796052155	225	K>R	Long QT syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs758218725 CA358288179	2	F>L		No	ClinGen ExAC TOPMed gnomAD
CA3086293 rs758218725	2	F>V		No	ClinGen ExAC TOPMed gnomAD
rs541261073 CA3086294	3	I>L		No	ClinGen 1000Genomes ExAC gnomAD
rs559119300 CA3086295	7	E>G		No	ClinGen 1000Genomes ExAC gnomAD
CA106786582 rs902907008	7	E>K		No	ClinGen TOPMed
CA3086297 rs780908581	9	F>C		No	ClinGen ExAC gnomAD
CA3086298 rs201983750	10	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3086299 rs201983750	10	Y>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA358288404 rs1560821678	12	H>N		No	ClinGen Ensembl
CA106786598 rs935760193	15	R>L		No	ClinGen TOPMed
rs778227224 CA3086301	17	W>C		No	ClinGen ExAC gnomAD
rs749689016 CA3086302	18	M>L		No	ClinGen ExAC TOPMed gnomAD
CA3086303 rs771236943	18	M>R		No	ClinGen ExAC gnomAD
rs771236943 CA3086304	18	M>T		No	ClinGen ExAC gnomAD
CA358288519 rs1309424765	20	W>*		No	ClinGen gnomAD
CA3086305 rs760015417	20	W>C		No	ClinGen ExAC gnomAD
rs760829336 CA3086308	21	L>P		No	ClinGen ExAC gnomAD
CA3086306 rs201497167	21	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750143144 CA3086311	23	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA106786674 rs926535766	23	R>Q		No	ClinGen TOPMed
CA358288579 rs1560821768	24	Q>H		No	ClinGen Ensembl
rs762779518 CA3086312	24	Q>L		No	ClinGen ExAC gnomAD
rs1420765784 CA358288585	25	M>L		No	ClinGen TOPMed
rs1250668627 CA358288620	27	G>E		No	ClinGen TOPMed
rs1208706965 CA358288640	28	K>R		No	ClinGen TOPMed
rs1317225948 CA555059149	29	C>*		No	ClinGen TOPMed gnomAD
rs1293492010 CA358288682	30	E>K		No	ClinGen TOPMed
CA358288729 rs1431543794 CA358288728	32	Q>H		No	ClinGen gnomAD
rs537745308 CA3086313	32	Q>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	33	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs150918381 CA3086314	33	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs755034557 CA358288747	34	I>L		No	ClinGen ExAC TOPMed gnomAD
rs780786101 CA3086316	34	I>M		No	ClinGen ExAC
rs755034557 CA3086315	34	I>V		No	ClinGen ExAC TOPMed gnomAD
CA3086318 rs551870214	38	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
rs551870214 CA358288835	38	Y>S		No	ClinGen 1000Genomes ExAC gnomAD
RCV000604864 rs150922490 CA3086320	39	V>G		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3086321 rs771311143	40	G>A		No	ClinGen ExAC gnomAD
rs1307867533 CA358288897	41	A>T		No	ClinGen TOPMed
CA3086323 rs746318253	42	Q>P		No	ClinGen ExAC gnomAD
TCGA novel	44	T>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1302875877	45	H>Q	Variant assessed as Somatic; 4.631e-05 impact. [NCI-TCGA]	No	NCI-TCGA
CA3086324 rs772580541	46	R>K		No	ClinGen ExAC gnomAD
rs1312483145 CA358289013	46	R>W		No	ClinGen gnomAD
CA106786755 rs912576639	47	I>M		No	ClinGen TOPMed
CA358289841 rs1265636679	50	S>F		No	ClinGen gnomAD
rs753522131 CA3086346	50	S>T		No	ClinGen ExAC
rs1578754723 CA358289852	51	L>F		No	ClinGen Ensembl
CA358289873 rs1427726523	53	Y>F		No	ClinGen TOPMed
CA358289889 rs1478318785	54	S>F		No	ClinGen gnomAD
COSM3696458 rs1578754761 CA358289905	55	K>N	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
CA358289899 rs1412250463	55	K>R		No	ClinGen TOPMed gnomAD
CA358289933 rs1188926025	57	K>N		No	ClinGen TOPMed
rs750114988 CA3086367	58	V>I		No	ClinGen ExAC TOPMed gnomAD
CA3086368 rs749146811	59	L>S		No	ClinGen ExAC gnomAD
rs1254715695 CA358293061	60	Q>R		No	ClinGen gnomAD
CA3086369 rs780454563	61	K>R		No	ClinGen ExAC gnomAD
CA358293074 rs1238050081	62	A>T		No	ClinGen gnomAD
rs375756274 CA3086370 COSM1051453	62	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs755446917 CA3086373	66	V>F		No	ClinGen ExAC gnomAD
rs1211269531 CA358293103	67	Q>E		No	ClinGen gnomAD
CA3086374 rs781278295	68	S>G		No	ClinGen ExAC TOPMed gnomAD
CA3086376 rs770021564	71	D>E		No	ClinGen ExAC gnomAD
CA358293164 rs1348839699	75	D>G		No	ClinGen TOPMed
rs778114443 CA3086377	77	I>M		No	ClinGen ExAC gnomAD
rs1410479012 CA358293181	77	I>N		No	ClinGen TOPMed
CA358293177 rs1310156754	77	I>V		No	ClinGen TOPMed
CA3086378 rs768591795	78	M>R		No	ClinGen ExAC gnomAD
rs768591795 CA3086379	78	M>T		No	ClinGen ExAC gnomAD
rs775428097 CA3086380	81	K>N		No	ClinGen ExAC TOPMed gnomAD
rs768498135 CA3086383	83	I>T		No	ClinGen ExAC gnomAD
CA358293232 rs150102347 CA3086384	84	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA106771397 rs933480521	85	P>L		No	ClinGen TOPMed
CA106771401 rs1014007626	86	E>G		No	ClinGen TOPMed
CA358293251 rs1333322624	87	K>N		No	ClinGen TOPMed gnomAD
rs1578763723 CA917319481	88	D>*		No	ClinGen Ensembl
CA3086385 rs138438975	88	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1377684108 CA358293253	88	D>N		No	ClinGen gnomAD
rs1219923095 CA358293265	89	A>V		No	ClinGen TOPMed
rs141263113 CA3086407	91	F>S		No	ClinGen ESP ExAC
rs1308284164 CA358293298	92	K>N		No	ClinGen TOPMed
rs751883088 CA3086408	92	K>R		No	ClinGen ExAC gnomAD
CA3086409 rs567221180	93	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3086410 rs767978161	94	C>R		No	ClinGen ExAC TOPMed gnomAD
CA3086412 rs556846456	94	C>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3086411 rs377541996	94	C>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs764209296 CA3086413	96	K>R		No	ClinGen ExAC gnomAD
CA3086414 rs753986525	97	M>I		No	ClinGen ExAC gnomAD
rs1455366974 CA358293352	100	L>P		No	ClinGen TOPMed
CA3086416 rs577904155	102	I>M		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	107	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3086418 rs746150538	107	Q>P		No	ClinGen ExAC gnomAD
CA358293411 rs1402234388	109	Y>C		No	ClinGen gnomAD
TCGA novel	109	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781109833 CA3086420	109	Y>N		No	ClinGen ExAC gnomAD
rs112201741 CA3086421	112	V>I		No	ClinGen ExAC TOPMed gnomAD
CA3086422 rs769738337	113	E>D		No	ClinGen ExAC gnomAD
rs369960970 CA106772362	115	V>E		No	ClinGen ESP TOPMed gnomAD
rs772893341 CA3086423	115	V>L		No	ClinGen ExAC TOPMed gnomAD
rs770471853 CA3086425	119	P>Q		No	ClinGen ExAC gnomAD
rs1487137636 CA358293485	120	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs538889745 CA3086429	123	D>G		No	ClinGen 1000Genomes ExAC gnomAD
rs189023174 CA3086427	123	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs189023174 CA3086428	123	D>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA358293508 rs1423057826	124	N>H		No	ClinGen gnomAD
rs1185265119 CA358293519	125	L>P		No	ClinGen gnomAD
COSM1051455 CA358293568 rs1365597372	132	M>I	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA3086432 rs754435022	132	M>T		No	ClinGen ExAC gnomAD
CA106772435 rs879943796	132	M>V		No	ClinGen TOPMed
TCGA novel	133	K>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs868787800 CA106772437	133	K>E		No	ClinGen Ensembl
CA358293615 rs1373948653	137	L>F		No	ClinGen gnomAD
CA3086453 rs373389261 COSM205370	141	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA3086454 RCV000217816 rs142450830	143	K>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs371278428 CA3086456	146	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA106773786 rs746819319	147	R>T		No	ClinGen TOPMed gnomAD
CA358293687 rs1236305306	148	I>F		No	ClinGen TOPMed gnomAD
CA358293703 rs1459097191	150	K>R		No	ClinGen gnomAD
CA358293708 rs1177926502	151	Q>*		No	ClinGen gnomAD
CA3086457 rs777606914	151	Q>R		No	ClinGen ExAC gnomAD
rs753774304 CA3086458	152	W>*		No	ClinGen ExAC
CA358293718 rs1453435014	152	W>*		No	ClinGen TOPMed
rs1431710168 CA358293726	153	A>V		No	ClinGen gnomAD
rs1178652268 CA358293769	159	G>V		No	ClinGen gnomAD
CA3086459 rs757195748	161	D>N		No	ClinGen ExAC TOPMed gnomAD
CA106773820 rs757195748	161	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA3086460 rs778234064	169	M>V		No	ClinGen ExAC gnomAD
rs745411173 CA3086461	170	G>D		No	ClinGen ExAC TOPMed gnomAD
rs745411173 CA358293845	170	G>V		No	ClinGen ExAC TOPMed gnomAD
rs771519322 CA3086462	173	G>V		No	ClinGen ExAC gnomAD
TCGA novel	177	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1237623090 CA358293891	177	L>P		No	ClinGen gnomAD
CA3086464 rs143694118	178	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs779496388 CA3086483	179	Y>C		No	ClinGen ExAC gnomAD
rs768437575 CA3086485	182	E>A		No	ClinGen ExAC gnomAD
rs781649998 CA3086486	183	N>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	183	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748555886 CA358293955	185	T>A		No	ClinGen ExAC TOPMed gnomAD
rs748555886 CA3086487	185	T>P		No	ClinGen ExAC TOPMed gnomAD
CA106775162 rs768282187	186	S>G		No	ClinGen Ensembl
rs1475961789 CA358293965	186	S>R		No	ClinGen TOPMed gnomAD
CA3086489 rs144150157	189	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1421541465 CA358294002	192	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1421541465 CA358294003	192	L>V		No	ClinGen TOPMed gnomAD
rs763431469 CA3086490	194	R>H		No	ClinGen ExAC gnomAD
rs763431469 CA358294018	194	R>P		No	ClinGen ExAC gnomAD
rs1405434097 CA358294026	196	N>D		No	ClinGen TOPMed
TCGA novel	200	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA358294067 rs1365790541	201	G>E		No	ClinGen gnomAD
CA358294066 rs1365790541	201	G>V		No	ClinGen gnomAD
rs1183021257 CA358294084	202	Y>C		No	ClinGen TOPMed
TCGA novel	202	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	203	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	203	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA358294099 rs1578771977	204	Y>F		No	ClinGen Ensembl
CA358294120 rs1281420962	207	V>G		No	ClinGen gnomAD
TCGA novel	207	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	210	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA358294138 rs1351747696	210	N>S		No	ClinGen gnomAD
CA358294168 rs1276999033	214	M>I		No	ClinGen gnomAD
rs1258409414 CA358294173	215	A>G		No	ClinGen TOPMed
rs762900314 CA3086516	215	A>S		No	ClinGen ExAC gnomAD
CA358294202 rs1238119957	219	L>P		No	ClinGen gnomAD
CA358294203 rs1238119957	219	L>R		No	ClinGen gnomAD
rs1338740215 CA358294214	221	S>C		No	ClinGen TOPMed
CA3086517 rs148286208	221	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3086518 rs148286208	221	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA358294223 rs1342390247	222	E>G		No	ClinGen TOPMed
CA3086519 rs754515295	227	H>R		No	ClinGen ExAC TOPMed gnomAD
rs892684534 CA106775581	228	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1373558204 CA358294288	232	V>I		No	ClinGen TOPMed gnomAD
CA358294297 rs1470334579	233	P>R		No	ClinGen gnomAD
rs767196649 CA3086520	233	P>S		No	ClinGen ExAC gnomAD
rs1390336163 CA358294302	234	G>D		No	ClinGen TOPMed gnomAD
CA358294309 rs1396428777	235	I>T		No	ClinGen TOPMed
CA3086521 rs141412212	235	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs200049901 CA3086523	236	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA3086522 rs755729412	236	P>S		No	ClinGen ExAC gnomAD
rs749642183 CA3086524	237	T>R		No	ClinGen ExAC gnomAD
CA3086525 rs757655589	238	M>I		No	ClinGen ExAC gnomAD
rs150835853 CA3086526	239	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA358294376 rs1336546467	245	Y>H		No	ClinGen gnomAD
CA358294402 rs1405916823	246	C>F		No	ClinGen TOPMed gnomAD
CA106775612 rs985835981	246	C>G		No	ClinGen TOPMed gnomAD
rs1405916823 CA358294403	246	C>Y		No	ClinGen TOPMed gnomAD
CA3086540 rs752203202	249	V>I		No	ClinGen ExAC TOPMed gnomAD
CA3086542 rs763618295	250	Y>D		No	ClinGen ExAC gnomAD
CA106779220 rs1000256134	250	Y>F		No	ClinGen TOPMed
CA3086543 rs753554163	252	F>S		No	ClinGen ExAC gnomAD
CA3086544 rs375007812	253	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA3086545 rs779256105	254	K>R		No	ClinGen ExAC gnomAD
CA358294469 rs1222913993	256	W>R		No	ClinGen gnomAD
rs367624113 CA3086546	258	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA358294500 rs1301105875	260	E>K		No	ClinGen Ensembl
CA3086547 rs758963209	261	P>R		No	ClinGen ExAC gnomAD
CA3086549 rs747098065	263	S>G		No	ClinGen ExAC TOPMed gnomAD
CA3086550 rs768812088	264	I>F		No	ClinGen ExAC gnomAD
rs1161816033 CA358294532	264	I>S		No	ClinGen gnomAD
CA358294529 rs768812088	264	I>V		No	ClinGen ExAC gnomAD
CA3086551 rs781220620	265	M>I		No	ClinGen ExAC gnomAD
CA106779258 rs950489576	265	M>R		No	ClinGen Ensembl
CA358294542 rs1425577436	266	Y>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1365037126 CA358294561	268	N>S		No	ClinGen TOPMed
CA358294568 rs1297849358	269	L>W		No	ClinGen gnomAD
rs755163165 CA106779270	275	H>R		No	ClinGen Ensembl
rs1243413639 CA358294618	276	E>K		No	ClinGen gnomAD
rs1361014213 CA358294635	278	I>F		No	ClinGen gnomAD
rs748392462 CA3086552	278	I>M		No	ClinGen ExAC gnomAD
CA358294648 rs1481071585	280	G>R		No	ClinGen gnomAD
rs759529814 CA3086555	282	L>F		No	ClinGen ExAC TOPMed gnomAD
CA3086554 rs774352395	282	L>S		No	ClinGen ExAC gnomAD
rs1441821403 CA358294667	283	L>Q		No	ClinGen gnomAD
rs775533332 CA3086557	285	C>Y		No	ClinGen ExAC gnomAD
rs760058394 COSM3702527 CA3086558	286	N>D	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA106779288 rs991313589	287	V>I		No	ClinGen TOPMed
rs1024184797 CA106779290	288	A>T		No	ClinGen TOPMed gnomAD
rs779141259 CA3086561	290	T>N		No	ClinGen ExAC gnomAD
rs139606864 CA3086563	292	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD

No associated diseases with Q8IZ81

1 regional properties for Q8IZ81

Type	Name	Position	InterPro Accession
domain	ELMO domain	113 - 282	IPR006816

Functions

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

1 GO annotations of cellular component

Name	Definition
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
GTPase activator activity	Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP.

3 GO annotations of biological process

Name	Definition
defense response to virus	Reactions triggered in response to the presence of a virus that act to protect the cell or organism.
positive regulation of GTPase activity	Any process that activates or increases the activity of a GTPase.
regulation of defense response to virus	Any process that modulates the frequency, rate or extent of the antiviral response of a cell or organism.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q08DZ3	ELMOD2	ELMO domain-containing protein 2	Bos taurus (Bovine)	PR
Q92556	ELMO1	Engulfment and cell motility protein 1	Homo sapiens (Human)	EV
Q96BJ8	ELMO3	Engulfment and cell motility protein 3	Homo sapiens (Human)	SS
Q96JJ3	ELMO2	Engulfment and cell motility protein 2	Homo sapiens (Human)	SS

10	20	30	40	50	60
MFISLWEFFY	GHFFRFWMKW	LLRQMTGKCE	LQRIFDTYVG	AQRTHRIENS	LTYSKNKVLQ
70	80	90	100	110	120
KATHVVQSEV	DKYVDDIMKE	KNINPEKDAS	FKICMKMCLL	QITGYKQLYL	DVESVRKRPY
130	140	150	160	170	180
DSDNLQHEEL	LMKLWNLLMP	TKKLNARISK	QWAEIGFQGD	DPKTDFRGMG	ILGLINLVYF
190	200	210	220	230	240
SENYTSEAHQ	ILSRSNHPKL	GYSYAIVGIN	LTEMAYSLLK	SEALKFHLYN	LVPGIPTMEH
250	260	270	280	290
FHQFYCYLVY	EFDKFWFEEE	PESIMYFNLY	REKFHEKIKG	LLLDCNVALT	LKV