Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	2059
Gene name	EGFR pathway substrate 8, signaling adaptor
Gene symbol	EPS8
Synonyms (NCBI Gene)	DFNB102
Chromosome	12
Chromosome location	12p12.3
Summary	This gene encodes a member of the EPS8 family. This protein contains one PH domain and one SH3 domain. It functions as part of the EGFR pathway, though its exact role has not been determined. Highly similar proteins in other organisms are involved in the

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SNP ID	Visualize variation	Clinical significance	Consequence
rs139258361	A>G	Conflicting-interpretations-of-pathogenicity, not-provided, uncertain-significance	Missense variant, coding sequence variant
rs142733590	G>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs149455769	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs180899529	T>C,G	Pathogenic	Intron variant
rs184886917	T>C,G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs587777691	G>A	Pathogenic	Coding sequence variant, stop gained

319

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miRTarBase ID	miRNA	Experiments	Reference
MIRT024889	hsa-miR-215-5p	Microarray	19074876
MIRT026253	hsa-miR-192-5p	Microarray	19074876
MIRT507381	hsa-miR-543	PAR-CLIP	22012620
MIRT507380	hsa-miR-606	PAR-CLIP	22012620
MIRT507379	hsa-miR-181a-5p	PAR-CLIP	22012620
MIRT507378	hsa-miR-181b-5p	PAR-CLIP	22012620
MIRT507377	hsa-miR-181c-5p	PAR-CLIP	22012620
MIRT507376	hsa-miR-181d-5p	PAR-CLIP	22012620
MIRT507374	hsa-miR-4262	PAR-CLIP	22012620
MIRT507375	hsa-miR-892c-5p	PAR-CLIP	22012620
MIRT507373	hsa-miR-589-3p	PAR-CLIP	22012620
MIRT507381	hsa-miR-543	PAR-CLIP	23446348
MIRT507380	hsa-miR-606	PAR-CLIP	23446348
MIRT507379	hsa-miR-181a-5p	PAR-CLIP	23446348
MIRT507378	hsa-miR-181b-5p	PAR-CLIP	23446348
MIRT507377	hsa-miR-181c-5p	PAR-CLIP	23446348
MIRT507376	hsa-miR-181d-5p	PAR-CLIP	23446348
MIRT507374	hsa-miR-4262	PAR-CLIP	23446348
MIRT507375	hsa-miR-892c-5p	PAR-CLIP	23446348
MIRT507373	hsa-miR-589-3p	PAR-CLIP	23446348
MIRT507372	hsa-miR-552-5p	PAR-CLIP	23446348
MIRT733162	hsa-miR-345-5p	Luciferase reporter assayRNA-seqWestern blotting	32147678
MIRT507381	hsa-miR-543	PAR-CLIP	22012620
MIRT507380	hsa-miR-606	PAR-CLIP	22012620
MIRT507379	hsa-miR-181a-5p	PAR-CLIP	22012620
MIRT507378	hsa-miR-181b-5p	PAR-CLIP	22012620
MIRT507377	hsa-miR-181c-5p	PAR-CLIP	22012620
MIRT507376	hsa-miR-181d-5p	PAR-CLIP	22012620
MIRT507374	hsa-miR-4262	PAR-CLIP	22012620
MIRT507375	hsa-miR-892c-5p	PAR-CLIP	22012620
MIRT507373	hsa-miR-589-3p	PAR-CLIP	22012620
MIRT507381	hsa-miR-543	PAR-CLIP	23446348
MIRT507380	hsa-miR-606	PAR-CLIP	23446348
MIRT507379	hsa-miR-181a-5p	PAR-CLIP	23446348
MIRT507378	hsa-miR-181b-5p	PAR-CLIP	23446348
MIRT507377	hsa-miR-181c-5p	PAR-CLIP	23446348
MIRT507376	hsa-miR-181d-5p	PAR-CLIP	23446348
MIRT507374	hsa-miR-4262	PAR-CLIP	23446348
MIRT507375	hsa-miR-892c-5p	PAR-CLIP	23446348
MIRT507373	hsa-miR-589-3p	PAR-CLIP	23446348
MIRT507372	hsa-miR-552-5p	PAR-CLIP	23446348
MIRT967331	hsa-miR-1253	CLIP-seq
MIRT967332	hsa-miR-1324	CLIP-seq
MIRT967333	hsa-miR-135a	CLIP-seq
MIRT967334	hsa-miR-135b	CLIP-seq
MIRT967335	hsa-miR-137	CLIP-seq
MIRT967336	hsa-miR-200b	CLIP-seq
MIRT967337	hsa-miR-200c	CLIP-seq
MIRT967338	hsa-miR-204	CLIP-seq
MIRT967339	hsa-miR-211	CLIP-seq
MIRT967340	hsa-miR-25	CLIP-seq
MIRT967341	hsa-miR-300	CLIP-seq
MIRT967342	hsa-miR-3120-3p	CLIP-seq
MIRT967343	hsa-miR-3121-5p	CLIP-seq
MIRT967344	hsa-miR-3166	CLIP-seq
MIRT967345	hsa-miR-3180-5p	CLIP-seq
MIRT967346	hsa-miR-32	CLIP-seq
MIRT967347	hsa-miR-345	CLIP-seq
MIRT967348	hsa-miR-3607-5p	CLIP-seq
MIRT967349	hsa-miR-3617	CLIP-seq
MIRT967350	hsa-miR-363	CLIP-seq
MIRT967351	hsa-miR-367	CLIP-seq
MIRT967352	hsa-miR-3678-3p	CLIP-seq
MIRT967353	hsa-miR-381	CLIP-seq
MIRT967354	hsa-miR-3919	CLIP-seq
MIRT967355	hsa-miR-3922-5p	CLIP-seq
MIRT967356	hsa-miR-3938	CLIP-seq
MIRT967357	hsa-miR-3974	CLIP-seq
MIRT967358	hsa-miR-4267	CLIP-seq
MIRT967359	hsa-miR-429	CLIP-seq
MIRT967360	hsa-miR-452	CLIP-seq
MIRT967361	hsa-miR-4666-3p	CLIP-seq
MIRT967362	hsa-miR-4676-3p	CLIP-seq
MIRT967363	hsa-miR-4687-3p	CLIP-seq
MIRT967364	hsa-miR-4718	CLIP-seq
MIRT967365	hsa-miR-4755-5p	CLIP-seq
MIRT967366	hsa-miR-4756-3p	CLIP-seq
MIRT967367	hsa-miR-4771	CLIP-seq
MIRT967368	hsa-miR-496	CLIP-seq
MIRT967369	hsa-miR-499a-5p	CLIP-seq
MIRT967370	hsa-miR-545	CLIP-seq
MIRT967371	hsa-miR-580	CLIP-seq
MIRT967372	hsa-miR-582-5p	CLIP-seq
MIRT967373	hsa-miR-600	CLIP-seq
MIRT967374	hsa-miR-623	CLIP-seq
MIRT967375	hsa-miR-641	CLIP-seq
MIRT967376	hsa-miR-92a	CLIP-seq
MIRT967377	hsa-miR-92b	CLIP-seq
MIRT1986527	hsa-miR-2681	CLIP-seq
MIRT1986528	hsa-miR-4684-3p	CLIP-seq
MIRT1986529	hsa-miR-4738-3p	CLIP-seq
MIRT1986530	hsa-miR-4760-5p	CLIP-seq
MIRT1986531	hsa-miR-490-5p	CLIP-seq
MIRT2221093	hsa-miR-105	CLIP-seq
MIRT2221094	hsa-miR-1298	CLIP-seq
MIRT2221095	hsa-miR-1323	CLIP-seq
MIRT967332	hsa-miR-1324	CLIP-seq
MIRT967335	hsa-miR-137	CLIP-seq
MIRT2221096	hsa-miR-146b-3p	CLIP-seq
MIRT967336	hsa-miR-200b	CLIP-seq
MIRT967337	hsa-miR-200c	CLIP-seq
MIRT967340	hsa-miR-25	CLIP-seq
MIRT2221097	hsa-miR-27a	CLIP-seq
MIRT2221098	hsa-miR-27b	CLIP-seq
MIRT967342	hsa-miR-3120-3p	CLIP-seq
MIRT2221099	hsa-miR-3140-5p	CLIP-seq
MIRT2221100	hsa-miR-3163	CLIP-seq
MIRT967344	hsa-miR-3166	CLIP-seq
MIRT2221101	hsa-miR-3173-5p	CLIP-seq
MIRT967345	hsa-miR-3180-5p	CLIP-seq
MIRT967346	hsa-miR-32	CLIP-seq
MIRT967350	hsa-miR-363	CLIP-seq
MIRT2221102	hsa-miR-3662	CLIP-seq
MIRT967351	hsa-miR-367	CLIP-seq
MIRT2221103	hsa-miR-3671	CLIP-seq
MIRT967352	hsa-miR-3678-3p	CLIP-seq
MIRT967358	hsa-miR-4267	CLIP-seq
MIRT967359	hsa-miR-429	CLIP-seq
MIRT967360	hsa-miR-452	CLIP-seq
MIRT967362	hsa-miR-4676-3p	CLIP-seq
MIRT2221104	hsa-miR-4742-5p	CLIP-seq
MIRT2221105	hsa-miR-4764-3p	CLIP-seq
MIRT967367	hsa-miR-4771	CLIP-seq
MIRT2221106	hsa-miR-4789-3p	CLIP-seq
MIRT967369	hsa-miR-499a-5p	CLIP-seq
MIRT2221107	hsa-miR-513a-5p	CLIP-seq
MIRT2221108	hsa-miR-514	CLIP-seq
MIRT2221109	hsa-miR-514b-3p	CLIP-seq
MIRT967370	hsa-miR-545	CLIP-seq
MIRT2221110	hsa-miR-548o	CLIP-seq
MIRT2221111	hsa-miR-577	CLIP-seq
MIRT967372	hsa-miR-582-5p	CLIP-seq
MIRT2221112	hsa-miR-607	CLIP-seq
MIRT2221113	hsa-miR-642b	CLIP-seq
MIRT2221114	hsa-miR-874	CLIP-seq
MIRT967376	hsa-miR-92a	CLIP-seq
MIRT967377	hsa-miR-92b	CLIP-seq
MIRT2221093	hsa-miR-105	CLIP-seq
MIRT2524809	hsa-miR-10a	CLIP-seq
MIRT2524810	hsa-miR-10b	CLIP-seq
MIRT2524811	hsa-miR-1183	CLIP-seq
MIRT2524812	hsa-miR-124	CLIP-seq
MIRT2524813	hsa-miR-1256	CLIP-seq
MIRT2221094	hsa-miR-1298	CLIP-seq
MIRT2221095	hsa-miR-1323	CLIP-seq
MIRT967333	hsa-miR-135a	CLIP-seq
MIRT967334	hsa-miR-135b	CLIP-seq
MIRT2524814	hsa-miR-181a	CLIP-seq
MIRT2524815	hsa-miR-181b	CLIP-seq
MIRT2524816	hsa-miR-181c	CLIP-seq
MIRT2524817	hsa-miR-181d	CLIP-seq
MIRT967336	hsa-miR-200b	CLIP-seq
MIRT967337	hsa-miR-200c	CLIP-seq
MIRT967338	hsa-miR-204	CLIP-seq
MIRT967339	hsa-miR-211	CLIP-seq
MIRT2524818	hsa-miR-2467-5p	CLIP-seq
MIRT1986527	hsa-miR-2681	CLIP-seq
MIRT2221097	hsa-miR-27a	CLIP-seq
MIRT2221098	hsa-miR-27b	CLIP-seq
MIRT2524819	hsa-miR-299-3p	CLIP-seq
MIRT967343	hsa-miR-3121-5p	CLIP-seq
MIRT2524820	hsa-miR-3143	CLIP-seq
MIRT2524821	hsa-miR-3144-3p	CLIP-seq
MIRT2221100	hsa-miR-3163	CLIP-seq
MIRT967344	hsa-miR-3166	CLIP-seq
MIRT2524822	hsa-miR-3188	CLIP-seq
MIRT2524823	hsa-miR-3190	CLIP-seq
MIRT2524824	hsa-miR-330-3p	CLIP-seq
MIRT2524825	hsa-miR-331-5p	CLIP-seq
MIRT967348	hsa-miR-3607-5p	CLIP-seq
MIRT2524826	hsa-miR-3647-3p	CLIP-seq
MIRT2524827	hsa-miR-3653	CLIP-seq
MIRT2524828	hsa-miR-3658	CLIP-seq
MIRT2221102	hsa-miR-3662	CLIP-seq
MIRT2221103	hsa-miR-3671	CLIP-seq
MIRT967355	hsa-miR-3922-5p	CLIP-seq
MIRT967356	hsa-miR-3938	CLIP-seq
MIRT2524829	hsa-miR-3975	CLIP-seq
MIRT2524830	hsa-miR-4286	CLIP-seq
MIRT967359	hsa-miR-429	CLIP-seq
MIRT2524831	hsa-miR-4292	CLIP-seq
MIRT2524832	hsa-miR-4307	CLIP-seq
MIRT2524833	hsa-miR-4422	CLIP-seq
MIRT2524834	hsa-miR-4450	CLIP-seq
MIRT2524835	hsa-miR-4474-5p	CLIP-seq
MIRT2524836	hsa-miR-4477b	CLIP-seq
MIRT2524837	hsa-miR-4491	CLIP-seq
MIRT2524838	hsa-miR-4496	CLIP-seq
MIRT2524839	hsa-miR-4503	CLIP-seq
MIRT2524840	hsa-miR-4511	CLIP-seq
MIRT2524841	hsa-miR-4642	CLIP-seq
MIRT2524842	hsa-miR-4649-3p	CLIP-seq
MIRT2524843	hsa-miR-4657	CLIP-seq
MIRT2524844	hsa-miR-4678	CLIP-seq
MIRT1986528	hsa-miR-4684-3p	CLIP-seq
MIRT2524845	hsa-miR-4684-5p	CLIP-seq
MIRT967363	hsa-miR-4687-3p	CLIP-seq
MIRT967364	hsa-miR-4718	CLIP-seq
MIRT2524846	hsa-miR-4735-5p	CLIP-seq
MIRT1986529	hsa-miR-4738-3p	CLIP-seq
MIRT2221104	hsa-miR-4742-5p	CLIP-seq
MIRT967365	hsa-miR-4755-5p	CLIP-seq
MIRT2524847	hsa-miR-4758-3p	CLIP-seq
MIRT1986530	hsa-miR-4760-5p	CLIP-seq
MIRT2221105	hsa-miR-4764-3p	CLIP-seq
MIRT2524848	hsa-miR-4768-5p	CLIP-seq
MIRT967367	hsa-miR-4771	CLIP-seq
MIRT2524849	hsa-miR-4775	CLIP-seq
MIRT2221106	hsa-miR-4789-3p	CLIP-seq
MIRT2524850	hsa-miR-4799-5p	CLIP-seq
MIRT2524851	hsa-miR-485-5p	CLIP-seq
MIRT1986531	hsa-miR-490-5p	CLIP-seq
MIRT2524852	hsa-miR-493	CLIP-seq
MIRT2524853	hsa-miR-506	CLIP-seq
MIRT2221107	hsa-miR-513a-5p	CLIP-seq
MIRT2524854	hsa-miR-526b	CLIP-seq
MIRT2524855	hsa-miR-548an	CLIP-seq
MIRT2524856	hsa-miR-548b-3p	CLIP-seq
MIRT2524857	hsa-miR-548g	CLIP-seq
MIRT2221110	hsa-miR-548o	CLIP-seq
MIRT2524858	hsa-miR-548p	CLIP-seq
MIRT2221111	hsa-miR-577	CLIP-seq
MIRT967371	hsa-miR-580	CLIP-seq
MIRT967372	hsa-miR-582-5p	CLIP-seq
MIRT2524859	hsa-miR-590-3p	CLIP-seq
MIRT2221112	hsa-miR-607	CLIP-seq
MIRT967374	hsa-miR-623	CLIP-seq
MIRT2221113	hsa-miR-642b	CLIP-seq
MIRT2524860	hsa-miR-653	CLIP-seq
MIRT2221093	hsa-miR-105	CLIP-seq
MIRT2524809	hsa-miR-10a	CLIP-seq
MIRT2524810	hsa-miR-10b	CLIP-seq
MIRT2524811	hsa-miR-1183	CLIP-seq
MIRT2524812	hsa-miR-124	CLIP-seq
MIRT2221094	hsa-miR-1298	CLIP-seq
MIRT2221095	hsa-miR-1323	CLIP-seq
MIRT967333	hsa-miR-135a	CLIP-seq
MIRT967334	hsa-miR-135b	CLIP-seq
MIRT2524814	hsa-miR-181a	CLIP-seq
MIRT2524815	hsa-miR-181b	CLIP-seq
MIRT2524816	hsa-miR-181c	CLIP-seq
MIRT2524817	hsa-miR-181d	CLIP-seq
MIRT967336	hsa-miR-200b	CLIP-seq
MIRT967337	hsa-miR-200c	CLIP-seq
MIRT2524818	hsa-miR-2467-5p	CLIP-seq
MIRT1986527	hsa-miR-2681	CLIP-seq
MIRT2221097	hsa-miR-27a	CLIP-seq
MIRT2221098	hsa-miR-27b	CLIP-seq
MIRT967343	hsa-miR-3121-5p	CLIP-seq
MIRT2524820	hsa-miR-3143	CLIP-seq
MIRT2524821	hsa-miR-3144-3p	CLIP-seq
MIRT2221100	hsa-miR-3163	CLIP-seq
MIRT967344	hsa-miR-3166	CLIP-seq
MIRT2524822	hsa-miR-3188	CLIP-seq
MIRT2524825	hsa-miR-331-5p	CLIP-seq
MIRT967348	hsa-miR-3607-5p	CLIP-seq
MIRT2680209	hsa-miR-3646	CLIP-seq
MIRT2524826	hsa-miR-3647-3p	CLIP-seq
MIRT2221102	hsa-miR-3662	CLIP-seq
MIRT2221103	hsa-miR-3671	CLIP-seq
MIRT2524829	hsa-miR-3975	CLIP-seq
MIRT2680210	hsa-miR-412	CLIP-seq
MIRT2524830	hsa-miR-4286	CLIP-seq
MIRT967359	hsa-miR-429	CLIP-seq
MIRT2524831	hsa-miR-4292	CLIP-seq
MIRT2524832	hsa-miR-4307	CLIP-seq
MIRT2524834	hsa-miR-4450	CLIP-seq
MIRT2524835	hsa-miR-4474-5p	CLIP-seq
MIRT2524836	hsa-miR-4477b	CLIP-seq
MIRT2524838	hsa-miR-4496	CLIP-seq
MIRT2524839	hsa-miR-4503	CLIP-seq
MIRT2524842	hsa-miR-4649-3p	CLIP-seq
MIRT2524844	hsa-miR-4678	CLIP-seq
MIRT1986528	hsa-miR-4684-3p	CLIP-seq
MIRT2524845	hsa-miR-4684-5p	CLIP-seq
MIRT967363	hsa-miR-4687-3p	CLIP-seq
MIRT967364	hsa-miR-4718	CLIP-seq
MIRT2524846	hsa-miR-4735-5p	CLIP-seq
MIRT1986529	hsa-miR-4738-3p	CLIP-seq
MIRT2221104	hsa-miR-4742-5p	CLIP-seq
MIRT2524847	hsa-miR-4758-3p	CLIP-seq
MIRT1986530	hsa-miR-4760-5p	CLIP-seq
MIRT2221105	hsa-miR-4764-3p	CLIP-seq
MIRT2524848	hsa-miR-4768-5p	CLIP-seq
MIRT967367	hsa-miR-4771	CLIP-seq
MIRT2524849	hsa-miR-4775	CLIP-seq
MIRT2680211	hsa-miR-4777-5p	CLIP-seq
MIRT2221106	hsa-miR-4789-3p	CLIP-seq
MIRT2524850	hsa-miR-4799-5p	CLIP-seq
MIRT2524851	hsa-miR-485-5p	CLIP-seq
MIRT1986531	hsa-miR-490-5p	CLIP-seq
MIRT2524853	hsa-miR-506	CLIP-seq
MIRT2221107	hsa-miR-513a-5p	CLIP-seq
MIRT2524854	hsa-miR-526b	CLIP-seq
MIRT2680212	hsa-miR-548a-5p	CLIP-seq
MIRT2680213	hsa-miR-548ab	CLIP-seq
MIRT2680214	hsa-miR-548ak	CLIP-seq
MIRT2524855	hsa-miR-548an	CLIP-seq
MIRT2680215	hsa-miR-548b-5p	CLIP-seq
MIRT2680216	hsa-miR-548c-5p	CLIP-seq
MIRT2680217	hsa-miR-548d-5p	CLIP-seq
MIRT2524857	hsa-miR-548g	CLIP-seq
MIRT2680218	hsa-miR-548h	CLIP-seq
MIRT2680219	hsa-miR-548i	CLIP-seq
MIRT2680220	hsa-miR-548j	CLIP-seq
MIRT2680221	hsa-miR-548k	CLIP-seq
MIRT2680222	hsa-miR-548l	CLIP-seq
MIRT2221110	hsa-miR-548o	CLIP-seq
MIRT2524858	hsa-miR-548p	CLIP-seq
MIRT2680223	hsa-miR-548w	CLIP-seq
MIRT2680224	hsa-miR-548y	CLIP-seq
MIRT2680225	hsa-miR-559	CLIP-seq
MIRT2221111	hsa-miR-577	CLIP-seq
MIRT967371	hsa-miR-580	CLIP-seq
MIRT967372	hsa-miR-582-5p	CLIP-seq
MIRT2524859	hsa-miR-590-3p	CLIP-seq
MIRT2221112	hsa-miR-607	CLIP-seq
MIRT2221113	hsa-miR-642b	CLIP-seq
MIRT2524860	hsa-miR-653	CLIP-seq

Show/Hide all (59)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IBA
GO:0003779	Function	Actin binding	IEA
GO:0003779	Function	Actin binding	ISS
GO:0005515	Function	Protein binding	IPI	15289329, 16189514, 16688213, 19564905, 21098279, 21988832, 22921828, 23314863, 24076653, 24584464, 24658140, 25416956, 25814554, 31980649, 33961781, 35384245
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005903	Component	Brush border	IEA
GO:0005938	Component	Cell cortex	IEA
GO:0005938	Component	Cell cortex	ISS
GO:0007266	Process	Rho protein signal transduction	IBA
GO:0007266	Process	Rho protein signal transduction	IEA
GO:0008344	Process	Adult locomotory behavior	IEA
GO:0008360	Process	Regulation of cell shape	IEA
GO:0008360	Process	Regulation of cell shape	ISS
GO:0010458	Process	Exit from mitosis	IEA
GO:0010458	Process	Exit from mitosis	ISS
GO:0014069	Component	Postsynaptic density	IEA
GO:0016020	Component	Membrane	IEA
GO:0016601	Process	Rac protein signal transduction	IEA
GO:0016601	Process	Rac protein signal transduction	ISS
GO:0017146	Component	NMDA selective glutamate receptor complex	IEA
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0030426	Component	Growth cone	IEA
GO:0030832	Process	Regulation of actin filament length	IEA
GO:0030832	Process	Regulation of actin filament length	ISS
GO:0031267	Function	Small GTPase binding	IEA
GO:0031267	Function	Small GTPase binding	ISS
GO:0031982	Component	Vesicle	HDA	19190083
GO:0032420	Component	Stereocilium	IEA
GO:0032420	Component	Stereocilium	ISS
GO:0032421	Component	Stereocilium bundle	IEA
GO:0032426	Component	Stereocilium tip	IEA
GO:0032587	Component	Ruffle membrane	IBA
GO:0032587	Component	Ruffle membrane	IEA
GO:0032587	Component	Ruffle membrane	ISS
GO:0035023	Process	Regulation of Rho protein signal transduction	IBA
GO:0035023	Process	Regulation of Rho protein signal transduction	IEA
GO:0036336	Process	Dendritic cell migration	IEA
GO:0036336	Process	Dendritic cell migration	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0045202	Component	Synapse	IEA
GO:0048149	Process	Behavioral response to ethanol	IEA
GO:0051016	Process	Barbed-end actin filament capping	IEA
GO:0051016	Process	Barbed-end actin filament capping	ISS
GO:0051017	Process	Actin filament bundle assembly	IEA
GO:0051017	Process	Actin filament bundle assembly	ISS
GO:0051764	Process	Actin crosslink formation	IEA
GO:0051764	Process	Actin crosslink formation	ISS
GO:0070062	Component	Extracellular exosome	HDA	11487543, 19056867, 23533145
GO:0070358	Process	Actin polymerization-dependent cell motility	IEA
GO:0070358	Process	Actin polymerization-dependent cell motility	ISS
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099072	Process	Regulation of postsynaptic membrane neurotransmitter receptor levels	IEA
GO:1900029	Process	Positive regulation of ruffle assembly	IBA
GO:1900029	Process	Positive regulation of ruffle assembly	IEA
GO:1990830	Process	Cellular response to leukemia inhibitory factor	IEA

MIM	HGNC	e!Ensembl
600206	3420	ENSG00000151491

Q12929

Protein name

Epidermal growth factor receptor kinase substrate 8

Protein function

Signaling adapter that controls various cellular protrusions by regulating actin cytoskeleton dynamics and architecture. Depending on its association with other signal transducers, can regulate different processes. Together with SOS1 and ABI1, f

PDB

2E8M , 7TZK

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08416	PTB	64 → 194	Phosphotyrosine-binding domain	Domain
PF00018	SH3_1	537 → 582	SH3 domain	Domain
PF18016	SAM_3	716 → 778	SAM domain (Sterile alpha motif)	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in all tissues analyzed, including heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Expressed in all epithelial and fibroblastic lines examined and in some, but not all, hematopoietic cells.

Sequence

MNGHISNHPSSFGMYPSQMNGYGSSPTFSQTDREHGSKTSAKALYEQRKNYARDSVSSVS
DISQYRVEHLTTFVLDRKDAMITVDDGIRKLKLLDAKGKVWTQDMILQVDDRAVSLIDLE
SKNELENFPLNTIQHCQAVMHSCSYDSVLALVCKEPTQNKPDLHLFQCDEVKANLISEDI
ESAISDSKGGKQKRRPDALRMISNADPSIPPPPRAPAPAPPGTVTQVDVRSRVAAWSAWA
ADQGDFEKPRQYHEQEETPEMMAARIDRDVQILNHILDDIEFFITKLQKAAEAFSELSKR
KKNKKGKRKGPGEGVLTLRAKPPPPDEFLDCFQKFKHGFNLLAKLKSHIQNPSAADLVHF
LFTPLNMVVQATGGPELASSVLSPLLNKDTIDFLNYTVNGDERQLWMSLGGTWMKARAEW
PKEQFIPPYVPRFRNGWEPPMLNFMGATMEQDLYQLAESVANVAEHQRKQEIKRLSTEHS
SVSEYHPADGYAFSSNIYTRGSHLDQGEAAVAFKPTSNRHIDRNYEPLKTQPKKYAKSKY
DFVARNNSELSVLKDDILEILDDRKQWWKVRNASGDSGFVPNNILDIVRPPESGLGRADP
PYTHTIQKQRMEYGPRPADTPPAPSPPPTPAPVPVPLPPSTPAPVPVSKVPANITRQNSS
SSDSGGSIVRDSQRHKQLPVDRRKSQMEEVQDELIHRLTIGRSAAQKKFHVPRQNVPVIN
ITYDSTPEDVKTWLQSKGFNPVTVNSLGVLNGAQLFSLNKDELRTVCPEGARVYSQITVQ
KAALEDSSGSSELQEIMRRRQEKISAAASDSGVESFDEGSSH

Sequence length

822

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive nonsyndromic hearing loss 102	Pathogenic; Likely pathogenic	rs2135785787, rs587777691, rs1945698201, rs1945336251	RCV001843391 RCV000143841 RCV003990381 RCV001293014	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (20)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 102	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPS8-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing loss, autosomal recessive	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hearing loss, autosomal recessive 106	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (63)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenoma	Adenoma	BEFREE	22876043		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	22876043		★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	28608476, 30858505		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	30233314		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	23685357		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive non-syndromic sensorineural deafness type DFNB	Non-Syndromic Sensorineural Deafness	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16618726, 25333707, 30203615, 31118055		★★★★★ ★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	29462617		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	22876043, 32641864	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	19799886, 22876043, 31497346		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28874189		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	28608476, 32899691, 35848896	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	30597261	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	21118970		★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	27573546		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	27573546		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	18839982		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	18839982	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon Carcinoma	Colon Carcinoma	BEFREE	22876043		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	22876043		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	22876043	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	22876043		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22876043	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)	Deafness	CLINGEN_DG	21236676, 21526224, 24741995, 27117407, 27132230, 27344577		★★★★★ ★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE 102	Deafness	GENOMICS_ENGLAND_DG	8404850		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 102	Deafness	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 102	Deafness	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermodysplasia Verruciformis	Epidermodysplasia verruciformis	Pubtator	35848896	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	22683923, 31819533		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	22683923, 31819533		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	23229386		★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	29107665		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	24106906		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	23685357		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	29357910		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29940761		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	24367505	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	23229386		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	29107665		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16618726, 25333707, 30203615, 31118055		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	31322213		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28874189		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	21118970		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	28608476, 30431134		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20184880, 24106906, 25896663, 30431134, 30941306, 31118055		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	27573546		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	22876043		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	16618726		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	31413179, 31497346		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	29192326		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19008210, 19448673, 22683923, 22876043, 25896663, 29357910, 30203615, 31819533, 7791787		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30738830, 31118055		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	21118970		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	31488087	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	28608476, 30431134		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	30858505		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	20184880, 28608476, 35848896, 36275722	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Profound hearing impairment	Hearing Impairment	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	19008210, 19448673, 22897151		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	19008210		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	30597261, 32641864	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	32147678	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	27573546	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only

EPS8 (EGFR pathway substrate 8, signaling adaptor)