AiPD: Autoinhibited Protein Database

Q9Y6M1

Gene name	IGF2BP2 (IMP2, VICKZ2)
Protein name	Insulin-like growth factor 2 mRNA-binding protein 2
Names	IGF2 mRNA-binding protein 2, IMP-2, Hepatocellular carcinoma autoantigen p62, IGF-II mRNA-binding protein 2, VICKZ family member 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:10644
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

123-599 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

123-599 (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

5 structures for Q9Y6M1

Entry ID	Method	Resolution	Chain	Position	Source
2CQH	NMR	-	A	2-81	PDB
6ROL	X-ray	210 A	A/B/C/D	426-588	PDB
7Q98	X-ray	250 A	C/F/I/L/O	367-376	PDB
7Q99	X-ray	255 A	C	367-376	PDB
AF-Q9Y6M1-F1	Predicted				AlphaFoldDB

359 variants for Q9Y6M1

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs769240317 CA2742024	2	M>T		No	ClinGen ExAC gnomAD
TCGA novel	3	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs376662015 CA355841762	7	I>L		No	ClinGen ESP TOPMed gnomAD
rs376662015 CA89826475	7	I>V		No	ClinGen ESP TOPMed gnomAD
rs374035154 CA2742020	12	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA2742019 rs779157781	13	A>T		No	ClinGen ExAC gnomAD
CA355841720 rs1263537078	13	A>V		No	ClinGen TOPMed
CA89826474 rs959319153	14	V>I		No	ClinGen Ensembl
rs764179905 CA2742016	16	A>T		No	ClinGen ExAC gnomAD
CA355841697 rs1245367827	17	D>E		No	ClinGen gnomAD
rs1426946764 CA355841703	17	D>N		No	ClinGen gnomAD
CA355841678 rs1261763236	20	R>P		No	ClinGen gnomAD
TCGA novel	21	Q>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	22	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762859757 CA2742012	24	G>R		No	ClinGen ExAC TOPMed gnomAD
CA2742010 rs556174716	26	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1315480448 CA355841609	31	A>T		No	ClinGen gnomAD
rs1451579571 CA355841599	33	Q>K		No	ClinGen gnomAD
rs768290525 CA2742007	34	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1489089381 CA355841565	38	S>C		No	ClinGen TOPMed
CA2742005 rs776122353	40	Y>H		No	ClinGen ExAC gnomAD
rs772304011 CA2742004	43	V>L		No	ClinGen ExAC gnomAD
rs1164636378 CA355841525	44	D>V		No	ClinGen TOPMed gnomAD
rs866056611 CA89826473	45	Y>*		No	ClinGen Ensembl
TCGA novel	47	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2742003 rs746285479	48	Q>H		No	ClinGen ExAC gnomAD
CA355841494 rs1241652925	49	N>H		No	ClinGen gnomAD
rs868866563 CA89826472	53	R>S		No	ClinGen Ensembl
rs757420056 CA2742001	56	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1159382442 CA355841379	60	G>S		No	ClinGen TOPMed
CA355841299 rs1224811172	63	E>K		No	ClinGen gnomAD
CA89826280 rs1039767729	65	H>Q		No	ClinGen TOPMed gnomAD
CA2741983 rs771289634	69	M>I		No	ClinGen ExAC gnomAD
CA355841214 rs1401604321	74	S>L		No	ClinGen gnomAD
CA355841210 rs1215631372	75	V>F		No	ClinGen TOPMed
rs1384655866 CA355841207	75	V>G		No	ClinGen gnomAD
rs748296935 CA2741979	78	K>N		No	ClinGen ExAC TOPMed gnomAD
rs778023327 CA2741981	78	K>R		No	ClinGen ExAC gnomAD
TCGA novel	79	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	81	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775862420 CA2741799	86	I>V		No	ClinGen ExAC TOPMed gnomAD
CA2741798 rs772496480	87	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1325386665 CA355837665	89	I>M		No	ClinGen TOPMed
COSM1670765 rs746080766 COSM1670764 CA2741797	90	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
TCGA novel	92	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355837625 rs1233542172	95	W>C		No	ClinGen gnomAD
rs1482627057 CA355837599	97	V>A		No	ClinGen gnomAD
CA89812204 rs773508549	103	A>V		No	ClinGen gnomAD
CA355706727 rs1447187705	105	Y>F		No	ClinGen TOPMed
CA2741781 rs761243059	110	N>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	113	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355706317 rs1183649557	115	N>S		No	ClinGen TOPMed gnomAD
CA355706299 rs1472730241	116	T>I		No	ClinGen gnomAD
rs774637166 CA2741758	117	D>G		No	ClinGen ExAC gnomAD
CA89612787 rs186582593	119	E>*		No	ClinGen gnomAD
CA2741757 rs766656943	119	E>G		No	ClinGen ExAC TOPMed gnomAD
CA355706253 rs186582593	119	E>K		No	ClinGen gnomAD
TCGA novel	120	T>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2741756 rs199711336	120	T>P		No	ClinGen ExAC gnomAD
CA2741753 rs554754058	121	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1230354917 CA355706188	122	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs745805618 CA2741749	125	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1333193631 CA355706138	126	T>I		No	ClinGen gnomAD
CA89612762 rs6787209	126	T>P		No	ClinGen Ensembl
rs771879946 CA89612754	127	Y>*		No	ClinGen Ensembl
rs757062387 CA2741747	129	T>R		No	ClinGen ExAC gnomAD
CA2741746 rs748950804	131	E>K		No	ClinGen ExAC gnomAD
rs1161961040 CA355706075	132	E>A		No	ClinGen TOPMed gnomAD
CA355706069 rs1457354273	132	E>D		No	ClinGen TOPMed gnomAD
rs1336272691 CA355706037	135	I>R		No	ClinGen TOPMed
rs1189145515 CA355705757	136	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2741734 rs776786236	137	M>T		No	ClinGen ExAC gnomAD
rs563013811 CA2741733	141	S>R		No	ClinGen ExAC TOPMed gnomAD
rs770730727 CA2741730	142	G>E		No	ClinGen ExAC gnomAD
rs148304949 CA2741731	142	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA2741728 rs769270600	146	E>D		No	ClinGen ExAC gnomAD
rs1200073496 CA355705643	146	E>G		No	ClinGen gnomAD
CA89611853 rs373459758	146	E>K		No	ClinGen Ensembl
CA355705619 rs1577979043	148	Y>H		No	ClinGen Ensembl
rs780675243 CA2741726	150	F>L		No	ClinGen ExAC gnomAD
rs1412028910 CA355705578	151	K>M		No	ClinGen gnomAD
CA355705559 rs1412012667	153	S>A		No	ClinGen gnomAD
rs143252812 CA2741723	154	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA355705537 rs1200026118	155	I>V		No	ClinGen TOPMed
rs908449835 CA89611829	156	P>L		No	ClinGen TOPMed gnomAD
CA355705513 rs1179711002	157	D>A		No	ClinGen TOPMed
rs750697447 CA89611815	160	V>L		No	ClinGen ExAC TOPMed gnomAD
rs750697447 CA2741720	160	V>M		No	ClinGen ExAC TOPMed gnomAD
CA355705463 rs765639851	161	S>R		No	ClinGen ExAC gnomAD
rs1168937232 CA355705454	162	S>C		No	ClinGen gnomAD
rs182799562 CA2741717	163	P>L		No	ClinGen ExAC TOPMed gnomAD
rs992126737 CA89611809	164	S>L		No	ClinGen TOPMed gnomAD
TCGA novel	164	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2741715 rs760879801	165	P>T		No	ClinGen ExAC gnomAD
CA2741714 rs199632834	166	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	166	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2741713 rs199632834	166	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA89611797 rs79419600	167	Q>H		No	ClinGen Ensembl
rs75254662 CA89611798	167	Q>R		No	ClinGen Ensembl
rs75458466 CA355705402	168	R>*		No	ClinGen gnomAD
rs75458466 CA89611794	168	R>G		No	ClinGen gnomAD
CA2741712 rs772811876	168	R>P		No	ClinGen ExAC TOPMed gnomAD
CA2741711 rs772811876	168	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs769640488 CA2741710	170	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA2741709 rs149558569	171	R>C		No	ClinGen ESP ExAC gnomAD
CA2741708 rs780871526	171	R>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	174	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746481954 CA2741706	175	S>C		No	ClinGen ExAC TOPMed gnomAD
rs1346235498 CA355705321	176	S>Y		No	ClinGen TOPMed
rs200474932 CA355705314	177	R>L		No	ClinGen 1000Genomes TOPMed gnomAD
rs200474932 COSM730124 CA2741703	177	R>Q	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes TOPMed gnomAD
rs758766707 CA2741704	177	R>W		No	ClinGen ExAC gnomAD
CA355705262 rs370374613	181	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA2741698 rs754085512	182	A>G		No	ClinGen ExAC TOPMed
rs200851805 CA2741699	182	A>T		No	ClinGen ExAC TOPMed gnomAD
rs375984098 CA2741697	183	P>R		No	ClinGen ESP ExAC gnomAD
CA89611764 rs11558676	183	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs905059769 CA89611762	184	G>A		No	ClinGen TOPMed
rs905059769 CA355705237	184	G>E		No	ClinGen TOPMed
rs1254810764 CA355705232	185	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1166905609 CA355705222	186	T>A		No	ClinGen gnomAD
CA2741696 rs756430254	187	S>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs752659015 CA355705204	188	Q>*		No	ClinGen ExAC gnomAD
CA2741695 rs752659015	188	Q>E		No	ClinGen ExAC gnomAD
CA2741694 rs767636644	188	Q>P		No	ClinGen ExAC gnomAD
CA2741693 rs762790441	189	A>S		No	ClinGen ExAC gnomAD
rs773255627 CA2741692	190	R>G		No	ClinGen ExAC gnomAD
rs201028543 CA2741691	191	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs112094969 CA89611749	192	I>V		No	ClinGen Ensembl
rs561951979 CA2741689	194	F>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs561951979 CA89611744	194	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2741686 rs754451208	197	R>Q		No	ClinGen ExAC gnomAD
CA355705009 rs1330577398	202	T>A		No	ClinGen gnomAD
CA355704998 rs1288653166	202	T>I		No	ClinGen gnomAD
CA2741684 rs746341734	204	F>L		No	ClinGen ExAC TOPMed gnomAD
CA89611732 rs1011668348	204	F>Y		No	ClinGen TOPMed
rs1295008280 CA355704976	205	V>L		No	ClinGen TOPMed gnomAD
CA355704929 rs1425677112	208	I>V		No	ClinGen TOPMed gnomAD
CA355704905 rs1296676689	210	G>R		No	ClinGen TOPMed
rs1328453254 CA355704834	214	L>W		No	ClinGen TOPMed
TCGA novel	215	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2741682 rs757872876	216	I>V		No	ClinGen ExAC gnomAD
rs749624654 CA2741681	217	K>M		No	ClinGen ExAC gnomAD
rs1225432112 CA355704785	217	K>N		No	ClinGen TOPMed
CA355704761 rs1560298046	219	I>V		No	ClinGen Ensembl
CA355704724 rs1157354945	220	T>S		No	ClinGen gnomAD
CA89611724 rs891997726	222	Q>H		No	ClinGen TOPMed
CA355704676 rs1414273950	222	Q>R		No	ClinGen gnomAD
CA355704644 rs1335631008	223	T>I		No	ClinGen TOPMed
CA355704603 rs1160188015	225	S>F		No	ClinGen gnomAD
rs778292490 CA2741680	226	R>W		No	ClinGen ExAC TOPMed gnomAD
rs760562120 CA2741649	228	D>G		No	ClinGen ExAC gnomAD
CA2741647 rs767153943	230	H>R		No	ClinGen ExAC gnomAD
CA89611152 rs928198182	235	S>C		No	ClinGen TOPMed
rs889690926 CA89611149	236	G>R		No	ClinGen Ensembl
rs759127888 CA2741646	237	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1375232590 CA355703444	241	P>S		No	ClinGen TOPMed gnomAD
rs769115172 CA89611136	243	T>I		No	ClinGen TOPMed
CA89611138 rs6787592	243	T>P		No	ClinGen Ensembl
rs1172105900 CA355703386	246	A>S		No	ClinGen gnomAD
CA2741645 rs773927638	248	P>L		No	ClinGen ExAC TOPMed gnomAD
rs773927638 CA355703360	248	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1432202480 CA355703364	248	P>S		No	ClinGen gnomAD
rs1458759937 CA355703353	249	E>Q		No	ClinGen TOPMed
CA355703292 rs1165327801	254	A>P		No	ClinGen TOPMed
TCGA novel	255	C>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1210353 rs1050135405 CA89611133	256	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA2741643 rs763538709	261	I>V		No	ClinGen ExAC gnomAD
CA2741642 rs759546946	263	Q>P		No	ClinGen ExAC gnomAD
rs1207085421 CA355703120	266	A>T		No	ClinGen gnomAD
rs748503250 CA2741639	267	D>Y		No	ClinGen ExAC gnomAD
rs768863666 CA355703062	271	L>P		No	ClinGen ExAC gnomAD
CA2741637 rs768863666	271	L>R		No	ClinGen ExAC gnomAD
CA89607275 rs1011628658	273	E>K		No	ClinGen TOPMed gnomAD
CA89607273 rs905337622	276	P>T		No	ClinGen Ensembl
rs766087776 CA2741608	280	L>V		No	ClinGen ExAC gnomAD
CA2741607 rs758144621	283	N>D		No	ClinGen ExAC gnomAD
CA2741606 rs749890846	283	N>S		No	ClinGen ExAC gnomAD
rs1472681115 CA355701696	284	G>V		No	ClinGen gnomAD
CA2741604 rs183414771 CA355701687	285	L>F		No	ClinGen ExAC gnomAD
CA2741603 rs777054214	286	V>A		No	ClinGen ExAC gnomAD
CA355701685 rs1560272323	286	V>I		No	ClinGen Ensembl
CA2741601 rs760989040	292	K>R		No	ClinGen ExAC gnomAD
rs1486193102 CA355701617	293	E>G		No	ClinGen gnomAD
CA355701584 rs1577922692	296	N>K		No	ClinGen Ensembl
CA89607240 rs1025125034	297	L>V		No	ClinGen Ensembl
CA89607238 rs1013739520	300	I>N		No	ClinGen Ensembl
CA89607236 rs750677541	302	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	303	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201952425 CA89607231	307	K>R		No	ClinGen 1000Genomes TOPMed gnomAD
rs201952425 CA355701472	307	K>T		No	ClinGen 1000Genomes TOPMed gnomAD
CA2741599 rs772227624	310	I>M		No	ClinGen ExAC gnomAD
rs775858080 CA2741600	310	I>V		No	ClinGen ExAC gnomAD
rs113792141 CA89607224	311	S>P		No	ClinGen Ensembl
CA355701420 rs1351624304	312	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA355701355 rs1386373142	315	D>N		No	ClinGen gnomAD
CA2741585 rs186201705	318	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1234224984 CA355701324	318	I>T		No	ClinGen gnomAD
rs1281418802 CA355701327	318	I>V		No	ClinGen gnomAD
CA355701318 rs1300405381	319	Y>C		No	ClinGen TOPMed gnomAD
CA355701308 rs1430886170	320	N>K		No	ClinGen gnomAD
rs753420204 CA2741584	321	P>L		No	ClinGen ExAC gnomAD
rs1415765230 CA355701297	322	E>G		No	ClinGen gnomAD
CA355701271 rs1172744121	326	T>A		No	ClinGen gnomAD
CA89607025 rs933107120	328	K>M		No	ClinGen Ensembl
rs1432601970 CA355701247	330	T>A		No	ClinGen gnomAD
rs761186971 CA2741582	335	A>V		No	ClinGen ExAC gnomAD
rs1192703319 CA355701192	338	E>A		No	ClinGen TOPMed
CA355701183 rs1190435441	339	I>M		No	ClinGen TOPMed
CA2741581 rs138243627	339	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1031776329 CA89607018	339	I>V		No	ClinGen TOPMed
rs1372039158 CA355701177	340	E>V		No	ClinGen TOPMed
CA355701135 rs1258693558	346	R>C		No	ClinGen gnomAD
CA2741579 rs759787490	346	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2741578 rs774482150	348	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1277464709 CA355701121	348	A>V		No	ClinGen gnomAD
rs1052497595 CA89607011	350	E>*		No	ClinGen Ensembl
rs936753963 CA89607002	350	E>V		No	ClinGen Ensembl
CA2741577 rs377082698	351	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs145666675 CA2741576	353	M>T		No	ClinGen ESP ExAC gnomAD
rs76689427 CA89606996	357	N>Y		No	ClinGen Ensembl
rs1352108865 CA355701025	360	A>V		No	ClinGen gnomAD
CA355701023 rs374623235	361	N>D		No	ClinGen ESP TOPMed
CA2741556 rs200672412	361	N>S		No	ClinGen ExAC TOPMed gnomAD
CA89605736 rs374623235	361	N>Y		No	ClinGen ESP TOPMed
CA355700997 rs1038693415	365	G>A		No	ClinGen TOPMed gnomAD
CA89605716 rs1038693415	365	G>E		No	ClinGen TOPMed gnomAD
CA2741552 rs745603997	366	L>*		No	ClinGen ExAC gnomAD
CA2741551 rs368787882	369	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs140669105 CA2741550	369	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs200027200 COSM1042257 CA2741548	370	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs965353462 CA89605710	371	L>R		No	ClinGen Ensembl
rs1218809034 CA355700954	372	G>V		No	ClinGen TOPMed
rs112447637 CA89605707	373	I>T		No	ClinGen Ensembl
CA89605709 rs924583420	373	I>V		No	ClinGen Ensembl
CA2741545 rs781632739	376	T>A		No	ClinGen ExAC gnomAD
rs766769853 CA2741542 COSM1254651	380	V>M	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs761945044 CA2741538	385	A>S		No	ClinGen ExAC gnomAD
CA2741539 rs761945044	385	A>T		No	ClinGen ExAC gnomAD
CA355700828 rs1577909716	386	G>E		No	ClinGen Ensembl
CA2741537 rs771848248	388	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2741536 rs771848248	388	R>G		No	ClinGen ExAC TOPMed gnomAD
CA2741535 rs138930530	388	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs138930530 CA89605667	388	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs770820589 CA2741533	389	G>R		No	ClinGen ExAC TOPMed gnomAD
rs748920710 CA2741532	391	P>S		No	ClinGen ExAC TOPMed gnomAD
rs748920710 CA355700790	391	P>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	393	A>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs555200407 CA2741529	393	A>T		No	ClinGen 1000Genomes ExAC TOPMed
CA2741528 rs184520382	394	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA2741527 rs184520382	394	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA355700727 rs1577909439	397	H>P		No	ClinGen Ensembl
CA355700714 rs1455046260	398	P>H		No	ClinGen gnomAD
rs1455046260 CA355700712	398	P>L		No	ClinGen gnomAD
rs192526034 CA2741525 COSM1693912	398	P>S	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1191246679 CA355700699	399	F>L		No	ClinGen gnomAD
rs1577841433 CA355699415	401	T>P		No	ClinGen Ensembl
rs1577841401 CA355699407	402	H>P		No	ClinGen Ensembl
rs747451333 CA2741507	402	H>Y		No	ClinGen ExAC gnomAD
rs780570432 CA2741506	403	S>A		No	ClinGen ExAC gnomAD
rs758852286 CA2741505	403	S>F		No	ClinGen ExAC TOPMed gnomAD
CA2741502 rs757551786	404	G>E		No	ClinGen ExAC gnomAD
CA2741503 rs532135870	404	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1577841271 CA355699391	405	Y>S		No	ClinGen Ensembl
CA355699379 rs1243675547	406	F>L		No	ClinGen gnomAD
CA355699381 rs1373182927	406	F>S		No	ClinGen gnomAD
rs1426197550 CA355699375	407	S>C		No	ClinGen TOPMed gnomAD
rs764062602 CA2741500	407	S>P		No	ClinGen ExAC gnomAD
CA89597474 rs937056931	408	S>R		No	ClinGen gnomAD
rs1225650316 CA355699358	410	Y>F		No	ClinGen TOPMed
CA355699343 rs1197509390	412	H>L		No	ClinGen gnomAD
CA355699345 rs1197509390	412	H>R		No	ClinGen gnomAD
rs145173270 CA2741497	412	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2741496 rs762887896	413	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA2741495 rs772922686	415	F>L		No	ClinGen ExAC TOPMed gnomAD
CA2741494 rs141112109	417	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2741492 rs778041902	419	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	419	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355698916 rs1207050253	424	Y>H		No	ClinGen gnomAD
CA355698814 rs1351869681	429	I>V		No	ClinGen gnomAD
CA355698720 rs1238651931	436	T>A		No	ClinGen TOPMed gnomAD
rs1238651931 CA355698722	436	T>S		No	ClinGen TOPMed gnomAD
CA2741456 rs753600987	441	A>T		No	ClinGen ExAC gnomAD
rs1204284791 CA355698628	444	G>R		No	ClinGen TOPMed
TCGA novel	445	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760359899 CA2741454	446	K>R		No	ClinGen ExAC gnomAD
rs147318025 CA355698576	448	A>S		No	ClinGen 1000Genomes ExAC gnomAD
rs147318025 CA2741453	448	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs767100703 CA2741452	453	L>M		No	ClinGen ExAC gnomAD
rs759073124 CA355698497	454	A>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs759073124 COSM302413 CA2741451	454	A>V	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA2741449 rs367657901	456	F>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA2741447 rs773624114	457	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs776879939 CA2741445	458	G>*		No	ClinGen ExAC TOPMed gnomAD
rs776879939 CA2741444	458	G>R		No	ClinGen ExAC TOPMed gnomAD
rs768897785 CA355698461	461	I>L		No	ClinGen ExAC TOPMed gnomAD
rs1220769490 CA355698458	461	I>T		No	ClinGen gnomAD
rs768897785 CA2741443	461	I>V		No	ClinGen ExAC TOPMed gnomAD
CA2741432 rs751050074	466	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1234685321 CA355698214	468	G>C		No	ClinGen gnomAD
CA2741430 rs763506380	469	P>L		No	ClinGen ExAC gnomAD
CA89593869 rs992643180	471	V>I		No	ClinGen TOPMed
rs1352381507 CA355698169	472	S>T		No	ClinGen TOPMed
CA355698159 rs1329435750	473	E>A		No	ClinGen gnomAD
rs762044576 CA2741427	473	E>K		No	ClinGen ExAC TOPMed gnomAD
rs777002619 CA2741426	475	M>V		No	ClinGen ExAC gnomAD
rs544265799 CA2741425	476	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2741424 rs747297276	477	I>V		No	ClinGen ExAC gnomAD
rs1181678326 CA355698066	480	G>R		No	ClinGen gnomAD
CA2741420 rs777528042	481	P>L		No	ClinGen ExAC TOPMed gnomAD
CA89593818 rs777528042	481	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA355698041 rs1235166941	482	P>A		No	ClinGen gnomAD
CA89593792 rs980594103	484	A>S		No	ClinGen TOPMed
TCGA novel	488	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1174617506 CA355697187	489	Q>K		No	ClinGen TOPMed
rs1419461980 CA355697171	491	R>Q		No	ClinGen TOPMed gnomAD
rs1160344547 CA355697173	491	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA89592442 rs769274279	495	K>R		No	ClinGen Ensembl
CA2741394 rs779535002	504	P>S		No	ClinGen ExAC gnomAD
CA89592425 rs546664849	507	E>V		No	ClinGen 1000Genomes
rs1487178467 CA355697041	509	K>T		No	ClinGen gnomAD
CA2741391 COSM1421454 rs528084524	512	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs754390433 CA2741389	513	H>R		No	ClinGen ExAC gnomAD
rs760985009 CA2741387	520	T>I		No	ClinGen ExAC gnomAD
rs1287604959 CA355696961	522	G>S		No	ClinGen TOPMed
CA2741386 rs753123780	523	R>Q		No	ClinGen ExAC gnomAD
CA89592388 rs377684115	528	G>C		No	ClinGen ESP TOPMed
rs759812324 CA2741384	528	G>D		No	ClinGen ExAC gnomAD
rs755413551 CA2741350	533	N>K		No	ClinGen ExAC gnomAD
CA2741349 rs751902726	534	E>K		No	ClinGen ExAC gnomAD
rs766661988 CA2741348	537	N>K		No	ClinGen ExAC gnomAD
rs1377035380 CA355695768	539	T>S		No	ClinGen gnomAD
rs758708150 CA2741347	539	T>S		No	ClinGen ExAC gnomAD
rs920094859 CA89590998	540	S>N		No	ClinGen Ensembl
CA355695741 rs1430974194	541	A>G		No	ClinGen gnomAD
TCGA novel	542	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2741346 rs750462832	544	I>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	544	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2741345 rs765470779	545	V>M		No	ClinGen ExAC gnomAD
CA355695632 rs1268234298	547	R>H		No	ClinGen TOPMed
CA89590989 rs964225451	548	D>E		No	ClinGen Ensembl
rs1366445376 CA355695620	548	D>N		No	ClinGen gnomAD
CA2741344 rs560563186	550	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1178158411 CA355695547	552	D>N		No	ClinGen gnomAD
rs752689122 CA89590962	555	E>D		No	ClinGen gnomAD
rs759323959 CA2741340	559	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2741326 rs780571233	571	A>V		No	ClinGen ExAC gnomAD
CA355694837 rs1475901677	572	Q>*		No	ClinGen TOPMed
CA2741325 rs758689947 COSM582967	573	R>C	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2741324 rs750722399	573	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
CA355694653 rs1454718708	582	V>A		No	ClinGen TOPMed
CA355694587 rs1488820997	586	E>K		No	ClinGen gnomAD
CA2741322 rs757317521	586	E>V		No	ClinGen ExAC TOPMed gnomAD
rs753885316 CA2741321	589	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA355694527 rs1577774993	589	Y>S		No	ClinGen Ensembl
COSM3945247 CA2741316 rs751346926	594	A>T	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA2741313 rs772894965	597	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs769366559 CA2741312	597	R>H		No	ClinGen ExAC TOPMed gnomAD
CA355694379 rs769366559	597	R>L		No	ClinGen ExAC TOPMed gnomAD

1 associated diseases with Q9Y6M1

[MIM: 608443]: Intellectual developmental disorder, autosomal recessive 3 (MRT3)

A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269|PubMed:16033914}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269|PubMed:16033914}. Note=The disease is caused by variants affecting the gene represented in this entry.

No regional properties for Q9Y6M1

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q9Y6M1

Functions

		Description
EC Number
Subcellular Localization	Nucleus Cytoplasm Cytoplasm, P-body Cytoplasm, Stress granule	Localized in cytoplasmic mRNP granules containing untranslated mRNAs Localizes at the connecting piece and the tail of the spermatozoa In response to cellular stress, such as oxidative stress, recruited to stress granules
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoplasmic stress granule	A dense aggregation in the cytosol composed of proteins and RNAs that appear when the cell is under stress.
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.
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.
P-body	A focus in the cytoplasm where mRNAs may become inactivated by decapping or some other mechanism. Protein and RNA localized to these foci are involved in mRNA degradation, nonsense-mediated mRNA decay (NMD), translational repression, and RNA-mediated gene silencing.

6 GO annotations of molecular function

Name	Definition
mRNA 3'-UTR binding	Binding to a 3' untranslated region of an mRNA molecule.
mRNA 5'-UTR binding	Binding to an mRNA molecule at its 5' untranslated region.
mRNA binding	Binding to messenger RNA (mRNA), an intermediate molecule between DNA and protein. mRNA includes UTR and coding sequences, but does not contain introns.
N6-methyladenosine-containing RNA binding	Binding to an RNA molecule modified by N6-methyladenosine (m6A), a modification present at internal sites of mRNAs and some non-coding RNAs.
RNA binding	Binding to an RNA molecule or a portion thereof.
translation regulator activity	Any molecular function involved in the initiation, activation, perpetuation, repression or termination of polypeptide synthesis at the ribosome.

8 GO annotations of biological process

Name	Definition
anatomical structure morphogenesis	The process in which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form.
CRD-mediated mRNA stabilization	An mRNA stabilization process in which one or more RNA-binding proteins associate with a sequence in the open reading frame called the coding region instability determinant (CRD).
mRNA transport	The directed movement of mRNA, messenger ribonucleic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
negative regulation of translation	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA.
nervous system development	The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state.
regulation of cytokine production	Any process that modulates the frequency, rate, or extent of production of a cytokine.
regulation of gene expression	Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
regulation of RNA metabolic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving RNA.

11 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O42254	IGF2BP1	Insulin-like growth factor 2 mRNA-binding protein 1	Gallus gallus (Chicken)	PR
Q5ZLP8	IGF2BP3	Insulin-like growth factor 2 mRNA-binding protein 3	Gallus gallus (Chicken)	PR
Q9NZI8	IGF2BP1	Insulin-like growth factor 2 mRNA-binding protein 1	Homo sapiens (Human)	PR
O00425	IGF2BP3	Insulin-like growth factor 2 mRNA-binding protein 3	Homo sapiens (Human)	PR
Q96I24	FUBP3	Far upstream element-binding protein 3	Homo sapiens (Human)	PR
Q15365	PCBP1	Poly(rC)-binding protein 1	Homo sapiens (Human)	PR
O88477	Igf2bp1	Insulin-like growth factor 2 mRNA-binding protein 1	Mus musculus (Mouse)	PR
Q9CPN8	Igf2bp3	Insulin-like growth factor 2 mRNA-binding protein 3	Mus musculus (Mouse)	PR
Q5SF07	Igf2bp2	Insulin-like growth factor 2 mRNA-binding protein 2	Mus musculus (Mouse)	PR
Q8CGX0	Igf2bp1	Insulin-like growth factor 2 mRNA-binding protein 1	Rattus norvegicus (Rat)	PR
Q08CK7	igf2bp1	Insulin-like growth factor 2 mRNA-binding protein 1	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MMNKLYIGNL	SPAVTADDLR	QLFGDRKLPL	AGQVLLKSGY	AFVDYPDQNW	AIRAIETLSG
70	80	90	100	110	120
KVELHGKIME	VDYSVSKKLR	SRKIQIRNIP	PHLQWEVLDG	LLAQYGTVEN	VEQVNTDTET
130	140	150	160	170	180
AVVNVTYATR	EEAKIAMEKL	SGHQFENYSF	KISYIPDEEV	SSPSPPQRAQ	RGDHSSREQG
190	200	210	220	230	240
HAPGGTSQAR	QIDFPLRILV	PTQFVGAIIG	KEGLTIKNIT	KQTQSRVDIH	RKENSGAAEK
250	260	270	280	290	300
PVTIHATPEG	TSEACRMILE	IMQKEADETK	LAEEIPLKIL	AHNGLVGRLI	GKEGRNLKKI
310	320	330	340	350	360
EHETGTKITI	SSLQDLSIYN	PERTITVKGT	VEACASAEIE	IMKKLREAFE	NDMLAVNQQA
370	380	390	400	410	420
NLIPGLNLSA	LGIFSTGLSV	LSPPAGPRGA	PPAAPYHPFT	THSGYFSSLY	PHHQFGPFPH
430	440	450	460	470	480
HHSYPEQEIV	NLFIPTQAVG	AIIGKKGAHI	KQLARFAGAS	IKIAPAEGPD	VSERMVIITG
490	500	510	520	530	540
PPEAQFKAQG	RIFGKLKEEN	FFNPKEEVKL	EAHIRVPSST	AGRVIGKGGK	TVNELQNLTS
550	560	570	580	590
AEVIVPRDQT	PDENEEVIVR	IIGHFFASQT	AQRKIREIVQ	QVKQQEQKYP	QGVASQRSK