AiPD: Autoinhibited Protein Database

Q8NFH8

Gene name	REPS2 (POB1)
Protein name	RalBP1-associated Eps domain-containing protein 2
Names	Partner of RalBP1, RalBP1-interacting protein 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9185
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-61 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-61 (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

2 structures for Q8NFH8

Entry ID	Method	Resolution	Chain	Position	Source
1IQ3	NMR	-	A	265-367	PDB
AF-Q8NFH8-F1	Predicted				AlphaFoldDB

347 variants for Q8NFH8

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1447468458 CA412468003	3	A>S		No	ClinGen Ensembl
rs1164465523 CA412468015	4	A>V		No	ClinGen gnomAD
CA412468025 rs1216847303	6	A>V		No	ClinGen TOPMed
CA412468032 rs1228048393	7	A>G		No	ClinGen TOPMed
rs1382752694 CA412468052	11	A>T		No	ClinGen gnomAD
CA412468073 rs1479270992	14	A>P		No	ClinGen gnomAD
rs867415979 CA327246545	14	A>V		No	ClinGen TOPMed gnomAD
CA412468079 rs1476578655	15	A>T		No	ClinGen TOPMed
CA412468088 rs1422283193	16	A>V		No	ClinGen TOPMed
CA412468095 rs1352286725	18	G>S		No	ClinGen gnomAD
CA412468111 rs1489075497	20	G>V		No	ClinGen TOPMed
rs1602466605 CA412468118	21	C>F		No	ClinGen Ensembl
CA412468126 rs1406329571	22	G>D		No	ClinGen TOPMed gnomAD
TCGA novel	22	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412468124 rs1406329571	22	G>V		No	ClinGen TOPMed gnomAD
CA412468134 rs1452502778	24	G>R		No	ClinGen TOPMed
rs965829080 CA327246547	25	P>A		No	ClinGen gnomAD
rs965829080 CA412468139	25	P>S		No	ClinGen gnomAD
CA412468175 rs1213288642	31	S>I		No	ClinGen TOPMed
rs1602466814 CA412468192	33	G>V		No	ClinGen Ensembl
CA412468215 rs1278905139	36	Q>H		No	ClinGen TOPMed
rs942128328 CA327246549	37	C>Y		No	ClinGen TOPMed gnomAD
CA412468237 rs1602466900	39	S>F		No	ClinGen Ensembl
CA412468276 rs1343909611	44	R>H		No	ClinGen TOPMed
rs1037801465 CA327246550	45	C>Y		No	ClinGen TOPMed gnomAD
CA412468379 rs1350221301	50	G>C		No	ClinGen TOPMed
CA10358003 rs774709796	50	G>V		No	ClinGen ExAC gnomAD
CA412468434 rs1325522527	52	G>S		No	ClinGen TOPMed
CA412468478 rs1170776719	54	G>A		No	ClinGen TOPMed
CA412468477 rs1170776719	54	G>E		No	ClinGen TOPMed
CA327246552 rs996210768	54	G>W		No	ClinGen TOPMed gnomAD
rs1478492885 CA412468498	56	G>R		No	ClinGen TOPMed
rs746393076 CA10358004	56	G>V		No	ClinGen ExAC
CA412468524 rs1171942920	58	P>S		No	ClinGen TOPMed gnomAD
CA412468520 rs1171942920	58	P>T		No	ClinGen TOPMed gnomAD
CA412468582 rs747915100	60	A>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
RCV000892724 CA10358005 rs747915100	60	A>V		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
TCGA novel	64	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	67	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA327246553 rs891072078	67	T>R		No	ClinGen TOPMed gnomAD
CA412468695 rs1569080372	68	A>T		No	ClinGen Ensembl
rs1233076416 CA412468761	72	A>P		No	ClinGen gnomAD
CA10358007 rs374993556	72	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA412468775 rs955781177	73	G>D		No	ClinGen TOPMed gnomAD
RCV000900860 CA10358008 rs763632604	73	G>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA327246555 rs955781177	73	G>V		No	ClinGen TOPMed gnomAD
rs868431162 CA327246556	76	A>S		No	ClinGen Ensembl
CA412468835 rs1456609853	77	D>E		No	ClinGen gnomAD
rs1251266479 CA412468982	85	P>S		No	ClinGen gnomAD
CA412468999 rs1198035813	86	A>V		No	ClinGen TOPMed gnomAD
rs867348415 CA327246557	87	E>*		No	ClinGen Ensembl
CA412469015 rs1174993029	88	T>A		No	ClinGen TOPMed
rs1470944344 CA412469026	88	T>R		No	ClinGen gnomAD
CA412469052 rs1414665337	91	Q>R		No	ClinGen TOPMed
CA412469581 rs1429638511	93	T>A		No	ClinGen gnomAD
TCGA novel	94	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749585889 CA10358019	98	A>V		No	ClinGen ExAC gnomAD
CA412469714 rs1160514145	100	R>Q		No	ClinGen TOPMed
rs779056454 CA10358021	100	R>W		No	ClinGen ExAC TOPMed gnomAD
rs746338199 CA10358022	101	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1426550935 CA412469770	104	F>I		No	ClinGen gnomAD
rs1172019906 CA412469798	106	P>S		No	ClinGen gnomAD
CA10358023 rs367700027	107	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs776188978 CA10358024	110	Y>F		No	ClinGen ExAC gnomAD
CA412469869 rs747345708	111	I>L		No	ClinGen ExAC TOPMed gnomAD
CA10358025 rs747345708	111	I>V		No	ClinGen ExAC TOPMed gnomAD
CA10358026 rs769129312	112	A>V		No	ClinGen ExAC gnomAD
rs1244950395 CA412469891	113	L>V		No	ClinGen TOPMed
CA10358027 rs372877131	118	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1446281720 CA412469976	119	A>G		No	ClinGen TOPMed
rs761537324 CA10358028	120	Q>*		No	ClinGen ExAC gnomAD
CA412470043 rs1360267866	123	L>F		No	ClinGen gnomAD
COSM1490741 rs764582140 CA10358029	124	P>L	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA327253079 COSM3708539 rs766504499	126	R>Q	liver [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs772735900 CA10358030 COSM3694483	126	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs762823928 CA10358031	127	I>L		No	ClinGen ExAC gnomAD
CA10358032 rs766277549	127	I>M		No	ClinGen ExAC TOPMed gnomAD
CA412470163 rs1323415416	129	S>N		No	ClinGen gnomAD
CA412473834 rs1360194080	135	P>A		No	ClinGen gnomAD
CA327254285 rs949060639	138	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs747712679 CA10358045	138	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1282290613 CA412473940	139	F>C		No	ClinGen TOPMed gnomAD
CA327254286 rs1021820701	140	M>V		No	ClinGen TOPMed
rs1315049717 CA412474002	141	M>I		No	ClinGen gnomAD
rs1242430613 CA412474053	143	K>*		No	ClinGen gnomAD
CA10358046 rs769505121	143	K>R		No	ClinGen ExAC gnomAD
rs973365223 CA327254287	145	D>N		No	ClinGen TOPMed gnomAD
CA412474160 rs1444916725	147	E>D		No	ClinGen gnomAD
rs1244623439 CA412474158	147	E>V		No	ClinGen gnomAD
CA412474180 rs1197091922	149	R>*		No	ClinGen TOPMed
CA412474186 rs1157451358	149	R>L		No	ClinGen gnomAD
rs1157451358 CA412474183	149	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10358047 rs772897180	151	G>R		No	ClinGen ExAC TOPMed gnomAD
CA10358048 rs151145828	153	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1358905992 CA412474265	155	E>K		No	ClinGen gnomAD
rs1339157602 CA412474302	157	H>R		No	ClinGen gnomAD
CA10358049 rs770490382	158	G>R		No	ClinGen ExAC gnomAD
TCGA novel	162	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10358050 rs774218727	163	I>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	164	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10358051 rs759524589	165	Y>D		No	ClinGen ExAC gnomAD
CA327254288 rs554662352	168	T>A		No	ClinGen Ensembl
rs1300724035 CA412474505	169	E>G		No	ClinGen TOPMed
rs1441772783 CA412474519	170	K>R		No	ClinGen TOPMed
CA412474526 rs1569131484	171	N>I		No	ClinGen Ensembl
CA327254289 rs999125327	172	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs777305301 CA10358054	177	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10358055 rs765526027	178	D>N		No	ClinGen ExAC TOPMed
CA412474646 rs1569131544	179	E>K		No	ClinGen Ensembl
CA412474966 rs1221683505	187	S>P		No	ClinGen gnomAD
CA10358066 rs770365507	189	T>M		No	ClinGen ExAC TOPMed gnomAD
CA10358067 rs368938823	192	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1439244605 CA412475012	194	A>G		No	ClinGen gnomAD
rs1270472525 CA412475009	194	A>T		No	ClinGen gnomAD
rs1204569364 CA412475015	195	S>P		No	ClinGen TOPMed gnomAD
TCGA novel	196	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1331535315 CA412475038	197	P>L		No	ClinGen TOPMed
CA10358069 rs373958763	200	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA10358071 rs760513276	202	H>Y		No	ClinGen ExAC gnomAD
rs764037772 CA10358072	204	Q>E		No	ClinGen ExAC gnomAD
CA412475184 rs1475311161	205	R>G		No	ClinGen gnomAD
CA10358073 COSM1714678 rs750613903	207	P>S	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA412475342 rs1421891788	212	Y>C		No	ClinGen gnomAD
rs137988102 CA10358076	216	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs371199285 CA10358078	217	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA10358077 rs371199285	217	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs756417338 CA10358080	219	A>T		No	ClinGen ExAC gnomAD
rs748902282 CA10358082	220	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1569133471 CA412475550	220	E>K		No	ClinGen Ensembl
TCGA novel	220	E>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412475616 rs1569133483	222	M>R		No	ClinGen Ensembl
TCGA novel	224	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769227492 CA327254994	227	Y>H		No	ClinGen Ensembl
CA10358093 rs774474016	232	P>S		No	ClinGen ExAC TOPMed gnomAD
CA412476539 rs774474016	232	P>T		No	ClinGen ExAC TOPMed gnomAD
rs759651283 CA10358094	233	L>P		No	ClinGen ExAC gnomAD
CA412476553 rs1250391153	233	L>V		No	ClinGen TOPMed
CA10358095 rs144810333	234	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1356584902 CA412476635	236	P>S		No	ClinGen gnomAD
CA10358099 rs370804178	237	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA412476674 rs1350587238	238	G>R		No	ClinGen gnomAD
rs1326155698 CA412476706	239	S>Y		No	ClinGen TOPMed
rs149335477 CA10358101	241	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs202032167 CA10358102	243	G>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1569136178 CA412476775	243	G>S		No	ClinGen Ensembl
rs202032167 CA10358103	243	G>V		No	ClinGen 1000Genomes ExAC gnomAD
rs762837888 CA10358104	244	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA10358105 rs762837888	244	P>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA10358106 rs768733696	245	G>E		No	ClinGen ExAC TOPMed gnomAD
rs200730182 CA10358107	248	P>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769775460 CA10358109	250	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM1118577 rs375166043 CA10358108	250	R>W	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs144651962 CA327254995	255	L>F		No	ClinGen ESP gnomAD
CA412477545 rs1156744466	256	I>T		No	ClinGen TOPMed gnomAD
rs775458245 CA10358113	257	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA10358111 rs759686330	257	R>W		No	ClinGen ExAC gnomAD
rs754571609 CA10358123	261	V>A		No	ClinGen ExAC TOPMed
CA412471135 rs1204554888	262	E>D		No	ClinGen gnomAD
TCGA novel	264	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781266991 CA10358124	265	L>Q		No	ClinGen ExAC gnomAD
rs748112433 CA10358125	267	D>E		No	ClinGen ExAC gnomAD
CA327256330 rs775328495	269	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA
CA412471187 rs1472902560	270	S>G		No	ClinGen gnomAD
rs1223982682 CA412471189	270	S>N		No	ClinGen Ensembl
rs946842798 CA327256331	271	Y>H		No	ClinGen TOPMed
rs1175443276 CA412471206	272	P>L		No	ClinGen gnomAD
CA10358127 rs777462597	273	D>G		No	ClinGen ExAC gnomAD
rs1470719194 CA412471226	275	P>R		No	ClinGen TOPMed gnomAD
rs746056126 CA10358128	278	I>L		No	ClinGen ExAC TOPMed gnomAD
CA412471247 rs1312854822	278	I>T		No	ClinGen TOPMed
rs1435708952 CA412471251	279	T>A		No	ClinGen TOPMed
rs1404723357 CA412471286	283	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1404723357 CA412471287	283	R>G		No	ClinGen TOPMed
CA10358129 rs772163094	283	R>H		No	ClinGen ExAC TOPMed gnomAD
rs367803010 CA10358130	284	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs760741615 CA10358131	286	Y>C		No	ClinGen ExAC gnomAD
CA10358132 rs199512015	288	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs777063869 CA10358133	289	Q>R		No	ClinGen ExAC gnomAD
rs762310001 CA10358134	291	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1234182228 CA412471382	292	S>T		No	ClinGen gnomAD
rs765596585 CA412471431	297	P>S		No	ClinGen ExAC gnomAD
rs765596585 CA10358135	297	P>T		No	ClinGen ExAC gnomAD
rs750774947 CA10358136	298	S>G		No	ClinGen ExAC TOPMed gnomAD
CA412471455 rs1255303109	299	S>F		No	ClinGen TOPMed
rs1414062377 CA412471468	300	F>L		No	ClinGen gnomAD
rs763948295 CA10358137	300	F>S		No	ClinGen 1000Genomes ExAC gnomAD
rs780243787 CA10358149	303	G>A		No	ClinGen ExAC gnomAD
TCGA novel	304	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	304	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	307	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	310	F>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412472280 rs1602828975	311	T>P		No	ClinGen Ensembl
VAR_069419	321	S>C		No	UniProt
rs150456847 CA327257235	328	D>N		No	ClinGen Ensembl
TCGA novel	333	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs148091903 CA10358166	334	A>T		No	ClinGen ESP ExAC gnomAD
CA327257236 rs915169988	338	P>S		No	ClinGen gnomAD
TCGA novel	340	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412473253 rs1386619708	343	A>V		No	ClinGen gnomAD
rs773576359 CA10358173	347	I>T		No	ClinGen ExAC gnomAD
TCGA novel	347	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412473365 rs1400878250	349	A>V		No	ClinGen TOPMed
CA10358174 rs749811885	350	R>G		No	ClinGen ExAC gnomAD
CA327257237 rs771385168	350	R>P		No	ClinGen ExAC gnomAD
rs771385168 CA10358175	350	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA10358179 rs775280138	355	P>A		No	ClinGen ExAC gnomAD
TCGA novel	357	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA327257238 rs766202358	359	G>S		No	ClinGen 1000Genomes gnomAD
rs763676250 CA10358181	368	Y>C		No	ClinGen ExAC gnomAD
CA10358182 rs753653787	371	A>E		No	ClinGen ExAC gnomAD
TCGA novel	372	A>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	379	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA327257703 rs964795583	379	D>Y		No	ClinGen Ensembl
CA412475138 rs1442694588	380	C>R		No	ClinGen gnomAD
CA412475165 rs1443418758	382	L>I		No	ClinGen TOPMed
CA10358198 rs763470403	385	S>F		No	ClinGen ExAC
CA10358200 rs770109996	389	S>P		No	ClinGen 1000Genomes ExAC gnomAD
CA10358201 rs147267823	391	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA327257704 rs193101679	391	P>S		No	ClinGen 1000Genomes
CA412475328 rs1407093017	392	A>E		No	ClinGen TOPMed
TCGA novel	393	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1174726459 CA412475379	394	Q>R		No	ClinGen gnomAD
CA412475396 rs1426094673	395	Q>R		No	ClinGen gnomAD
CA10358204 rs766171643	396	P>L		No	ClinGen ExAC gnomAD
rs768325785 CA10358205	397	R>C		No	ClinGen ExAC TOPMed gnomAD
rs768325785 CA327257705	397	R>G		No	ClinGen ExAC TOPMed gnomAD
CA412475419 rs1356369143	397	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10358207 rs144817649	401	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs374515858 CA10358206	401	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10358208 rs753927831	402	M>I		No	ClinGen ExAC gnomAD
rs949698830 CA327257707	402	M>L		No	ClinGen TOPMed gnomAD
CA412476096 rs1408539711	404	K>M		No	ClinGen gnomAD
rs1227088341 CA412476113	405	T>I		No	ClinGen TOPMed
rs1325211874 CA412476108	405	T>S		No	ClinGen gnomAD
CA10358221 rs766042969	406	S>P		No	ClinGen ExAC gnomAD
TCGA novel	409	D>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751349371 CA10358222	410	M>I		No	ClinGen ExAC TOPMed gnomAD
CA412476159 rs1429539956	410	M>T		No	ClinGen gnomAD
rs956535345 CA327258117	410	M>V		No	ClinGen Ensembl
CA327258118 rs975916785	411	A>T		No	ClinGen Ensembl
rs764375554 CA10358224	414	P>L		No	ClinGen ExAC gnomAD
CA412476224 rs1228453862	414	P>S		No	ClinGen gnomAD
CA327258119 rs868556060	417	N>D		No	ClinGen Ensembl
CA10358225 rs184329917	418	Q>L		No	ClinGen 1000Genomes ExAC gnomAD
CA412476334 rs1212169121	421	T>N		No	ClinGen gnomAD
rs1290956348 CA412476347	422	S>N		No	ClinGen gnomAD
TCGA novel	424	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs920597803 CA327258120	425	K>I		No	ClinGen TOPMed
rs1191241515 CA412476399	426	Q>R		No	ClinGen gnomAD
CA10358232 rs747367284	427	A>G		No	ClinGen ExAC gnomAD
rs1364449893 CA412476533	429	K>I		No	ClinGen TOPMed
rs768968219 CA10358233	430	S>I		No	ClinGen ExAC TOPMed gnomAD
rs1350655122 CA412476556	431	T>A		No	ClinGen gnomAD
CA10358234 rs147520826	432	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA412476589 rs1270498483	433	N>S		No	ClinGen TOPMed gnomAD
TCGA novel	439	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10358237 rs370932242	440	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs762501829 CA10358238	441	S>T		No	ClinGen ExAC TOPMed gnomAD
CA412476750 rs1259569079	442	E>V		No	ClinGen TOPMed gnomAD
CA412476756 rs1188389681	443	D>N		No	ClinGen gnomAD
CA10358239 rs770873626	445	A>P		No	ClinGen ExAC gnomAD
CA10358251 rs755307277	451	N>S		No	ClinGen ExAC gnomAD
CA412477548 rs1161665169	455	A>T		No	ClinGen TOPMed
rs1444157231 CA412477590	457	P>S		No	ClinGen TOPMed
TCGA novel	461	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1250763627 CA412478079	462	Y>S		No	ClinGen gnomAD
CA10358267 rs192919194	464	S>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1479077200 CA412478119	465	T>I		No	ClinGen TOPMed
CA412478135 rs1483364958	467	I>V		No	ClinGen gnomAD
CA327258675 rs762654960	469	E>G		No	ClinGen Ensembl
rs767819222 TCGA novel CA10358270	471	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC gnomAD
COSM1756480 rs756540323 CA10358272	475	E>K	Variant assessed as Somatic; 6.29e-05 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
TCGA novel	476	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA327258676 rs965584788	478	P>R		No	ClinGen TOPMed
CA412478277 rs1602941080	479	T>P		No	ClinGen Ensembl
CA412478294 rs1371945154	480	P>L		No	ClinGen gnomAD
rs748910933 CA10358274	483	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1424648727 CA412478340	485	Q>E		No	ClinGen gnomAD
rs1370185338 CA412478433	492	S>A		No	ClinGen gnomAD
CA327258678 rs998838013	497	N>S		No	ClinGen Ensembl
CA327258679 rs1028620576	502	P>A		No	ClinGen gnomAD
rs1222022155 CA412481164	513	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA412481187 rs1603028389	517	A>T		No	ClinGen Ensembl
CA412481190 rs1210213063	517	A>V		No	ClinGen gnomAD
CA412481208 rs1482655681	520	P>R		No	ClinGen gnomAD
rs1371744533 CA412481222	522	P>L		No	ClinGen TOPMed
rs771695235 CA10358309	531	S>L		No	ClinGen ExAC TOPMed gnomAD
rs888117495 CA327263646	531	S>T		No	ClinGen Ensembl
CA10358311 rs764790483	532	E>K		No	ClinGen ExAC TOPMed gnomAD
rs148828323 CA10358313	534	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA327263647 rs903181288	537	P>S		No	ClinGen TOPMed
CA10358314 rs779714711	539	L>R		No	ClinGen ExAC gnomAD
CA412479255 rs1398880958	539	L>V		No	ClinGen TOPMed
CA10358317 rs754985513	549	S>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	549	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	550	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA327263649 rs970567076	553	K>E		No	ClinGen gnomAD
rs781237104 CA10358318	554	K>R		No	ClinGen ExAC
TCGA novel	555	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767344940 CA412479715	557	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1431615840 CA412479748	559	S>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	561	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10358338 rs755798856	562	P>S		No	ClinGen ExAC gnomAD
rs746046022 CA10358340	567	R>C		No	ClinGen ExAC
rs1433808251 CA412479891	567	R>H		No	ClinGen gnomAD
rs1433808251 CA412479896	567	R>L		No	ClinGen gnomAD
rs758601315 CA10358341	574	N>T		No	ClinGen ExAC gnomAD
TCGA novel	576	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412480069 rs1367930317	577	T>A		No	ClinGen gnomAD
CA10358343 rs747090540	578	E>G		No	ClinGen ExAC gnomAD
CA10358345 rs142529645	582	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs868000265 CA327263771	583	S>Y		No	ClinGen Ensembl
CA412480221 rs1289562701	584	T>A		No	ClinGen TOPMed gnomAD
rs1477772678 CA412480274	588	G>R		No	ClinGen TOPMed
rs1424926476 CA412480297	589	P>L		No	ClinGen gnomAD
rs368740050 CA10358346	590	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA327263772 rs12847967	591	S>Y		No	ClinGen Ensembl
rs770010053 CA10358347	592	A>V		No	ClinGen ExAC TOPMed gnomAD
CA327263773 rs146448075	595	M>T		No	ClinGen ESP
rs763459114 CA10358349	596	K>E		No	ClinGen ExAC gnomAD
rs766097724 CA10358350	597	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1451183067 CA412480473	599	P>S		No	ClinGen gnomAD
CA412480483 rs1168458636	600	T>I		No	ClinGen gnomAD
CA10358366 rs749663785	606	S>F		No	ClinGen ExAC TOPMed gnomAD
CA10358367 rs771438274	608	Q>H		No	ClinGen ExAC gnomAD
rs1434956221 CA412480706	608	Q>R		No	ClinGen TOPMed
rs1269421809 CA412480730	611	A>V		No	ClinGen TOPMed
rs1450833779 CA412480740	613	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10358369 rs759264801	617	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA412480772 rs1226749879	618	K>Q		No	ClinGen gnomAD
TCGA novel	619	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10358373 rs760146484	628	R>L		No	ClinGen ExAC gnomAD
rs760146484 CA10358372	628	R>P		No	ClinGen ExAC gnomAD
COSM1223540 rs1199941626 CA412480840	628	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1440559561 CA412480858	631	S>N		No	ClinGen gnomAD
rs1275110834 CA412480889	635	Q>R		No	ClinGen TOPMed
rs373014837 CA10358374	636	Q>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1345339022 CA412480906	638	K>Q		No	ClinGen TOPMed
TCGA novel	638	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA327264622 rs756546783	639	E>*		No	ClinGen Ensembl
rs1375381976 CA412481333	648	E>D		No	ClinGen gnomAD
rs936932856 CA327264623	650	Q>H		No	ClinGen gnomAD
CA412481364 rs1569203709	653	Q>K		No	ClinGen Ensembl
COSM1118602 rs750209945 CA10358394	655	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs187790449 CA10358395	655	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10358397 rs754563907	656	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1386376759 CA640779719	661	L>L		No	ClinGen gnomAD

No associated diseases with Q8NFH8

4 regional properties for Q8NFH8

Type	Name	Position	InterPro Accession
domain	EH domain	34 - 135	IPR000261-1
domain	EH domain	275 - 370	IPR000261-2
domain	EF-hand domain	315 - 350	IPR002048
binding_site	EF-Hand 1, calcium-binding site	328 - 340	IPR018247

Functions

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

1 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.

1 GO annotations of molecular function

Name	Definition
calcium ion binding	Binding to a calcium ion (Ca2+).

4 GO annotations of biological process

Name	Definition
endocytosis	A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle.
endosomal transport	The directed movement of substances mediated by an endosome, a membrane-bounded organelle that carries materials enclosed in the lumen or located in the endosomal membrane.
epidermal growth factor receptor signaling pathway	The series of molecular signals initiated by binding of a ligand to the tyrosine kinase receptor EGFR (ERBB1) on the surface of a cell. The pathway ends with regulation of a downstream cellular process, e.g. transcription.
protein-containing complex assembly	The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9NZM3	ITSN2	Intersectin-2	Homo sapiens (Human)	SS
Q15811	ITSN1	Intersectin-1	Homo sapiens (Human)	EV SS
Q80XA6	Reps2	RalBP1-associated Eps domain-containing protein 2	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MEAAAAAAAA	AAAAAAAGGG	CGSGPPPLLL	SEGEQQCYSE	LFARCAGAAG	GGPGSGPPEA
70	80	90	100	110	120
ARVAPGTATA	AAGPVADLFR	ASQLPAETLH	QITELCGAKR	VGYFGPTQFY	IALKLIAAAQ
130	140	150	160	170	180
SGLPVRIESI	KCELPLPRFM	MSKNDGEIRF	GNPAELHGTK	VQIPYLTTEK	NSFKRMDDED
190	200	210	220	230	240
KQQETQSPTM	SPLASPPSSP	PHYQRVPLSH	GYSKLRSSAE	QMHPAPYEAR	QPLVQPEGSS
250	260	270	280	290	300
SGGPGTKPLR	HQASLIRSFS	VERELQDNSS	YPDEPWRITE	EQREYYVNQF	RSLQPDPSSF
310	320	330	340	350	360
ISGSVAKNFF	TKSKLSIPEL	SYIWELSDAD	CDGALTLPEF	CAAFHLIVAR	KNGYPLPEGL
370	380	390	400	410	420
PPTLQPEYLQ	AAFPKPKWDC	QLFDSYSESL	PANQQPRDLN	RMEKTSVKDM	ADLPVPNQDV
430	440	450	460	470	480
TSDDKQALKS	TINEALPKDV	SEDPATPKDS	NSLKARPRSR	SYSSTSIEEA	MKRGEDPPTP
490	500	510	520	530	540
PPRPQKTHSR	ASSLDLNKVF	QPSVPATKSG	LLPPPPALPP	RPCPSQSEQV	SEAELLPQLS
550	560	570	580	590	600
RAPSQAAESS	PAKKDVLYSQ	PPSKPIRRKF	RPENQATENQ	EPSTAASGPA	SAATMKPHPT
610	620	630	640	650
VQKQSSKQKK	AIQTAIRKNK	EANAVLARLN	SELQQQLKEV	HQERIALENQ	LEQLRPVTVL