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	64787
Gene name	EPS8 signaling adaptor L2
Gene symbol	EPS8L2
Synonyms (NCBI Gene)	DFNB106EPS8R2
Chromosome	11
Chromosome location	11p15.5
Summary	This gene encodes a member of the EPS8 gene family. The encoded protein, like other members of the family, is thought to link growth factor stimulation to actin organization, generating functional redundancy in the pathways that regulate actin cytoskeleta

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1554952193	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554952443	C>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (68)

miRTarBase ID	miRNA	Experiments	Reference
MIRT025340	hsa-miR-34a-5p	Proteomics	21566225
MIRT025340	hsa-miR-34a-5p	Proteomics	21566225
MIRT967378	hsa-miR-122	CLIP-seq
MIRT967379	hsa-miR-1251	CLIP-seq
MIRT967380	hsa-miR-125a-3p	CLIP-seq
MIRT967381	hsa-miR-1470	CLIP-seq
MIRT967382	hsa-miR-29a	CLIP-seq
MIRT967383	hsa-miR-29b	CLIP-seq
MIRT967384	hsa-miR-29c	CLIP-seq
MIRT967385	hsa-miR-3065-3p	CLIP-seq
MIRT967386	hsa-miR-3178	CLIP-seq
MIRT967387	hsa-miR-3192	CLIP-seq
MIRT967388	hsa-miR-3193	CLIP-seq
MIRT967389	hsa-miR-331-3p	CLIP-seq
MIRT967390	hsa-miR-361-3p	CLIP-seq
MIRT967391	hsa-miR-3616-5p	CLIP-seq
MIRT967392	hsa-miR-3647-5p	CLIP-seq
MIRT967393	hsa-miR-3657	CLIP-seq
MIRT967394	hsa-miR-3665	CLIP-seq
MIRT967395	hsa-miR-3679-3p	CLIP-seq
MIRT967396	hsa-miR-4286	CLIP-seq
MIRT967397	hsa-miR-4640-3p	CLIP-seq
MIRT967398	hsa-miR-4676-5p	CLIP-seq
MIRT967399	hsa-miR-4786-3p	CLIP-seq
MIRT967400	hsa-miR-4795-5p	CLIP-seq
MIRT967401	hsa-miR-564	CLIP-seq
MIRT967402	hsa-miR-573	CLIP-seq
MIRT967403	hsa-miR-575	CLIP-seq
MIRT967404	hsa-miR-595	CLIP-seq
MIRT967405	hsa-miR-657	CLIP-seq
MIRT967378	hsa-miR-122	CLIP-seq
MIRT967386	hsa-miR-3178	CLIP-seq
MIRT967387	hsa-miR-3192	CLIP-seq
MIRT967399	hsa-miR-4786-3p	CLIP-seq
MIRT967378	hsa-miR-122	CLIP-seq
MIRT967386	hsa-miR-3178	CLIP-seq
MIRT967387	hsa-miR-3192	CLIP-seq
MIRT1986532	hsa-miR-4435	CLIP-seq
MIRT967399	hsa-miR-4786-3p	CLIP-seq
MIRT2221115	hsa-miR-1266	CLIP-seq
MIRT2221116	hsa-miR-15a	CLIP-seq
MIRT2221117	hsa-miR-15b	CLIP-seq
MIRT2221118	hsa-miR-16	CLIP-seq
MIRT2221119	hsa-miR-195	CLIP-seq
MIRT2221120	hsa-miR-214	CLIP-seq
MIRT2221121	hsa-miR-296-5p	CLIP-seq
MIRT2221122	hsa-miR-3619-5p	CLIP-seq
MIRT2221123	hsa-miR-3668	CLIP-seq
MIRT2221124	hsa-miR-424	CLIP-seq
MIRT2221125	hsa-miR-4270	CLIP-seq
MIRT2221126	hsa-miR-4441	CLIP-seq
MIRT2221127	hsa-miR-4464	CLIP-seq
MIRT2221128	hsa-miR-4518	CLIP-seq
MIRT2221129	hsa-miR-4748	CLIP-seq
MIRT2221130	hsa-miR-4764-5p	CLIP-seq
MIRT2221131	hsa-miR-497	CLIP-seq
MIRT2221132	hsa-miR-647	CLIP-seq
MIRT967405	hsa-miR-657	CLIP-seq
MIRT2221133	hsa-miR-761	CLIP-seq
MIRT967378	hsa-miR-122	CLIP-seq
MIRT2387500	hsa-miR-1226	CLIP-seq
MIRT967385	hsa-miR-3065-3p	CLIP-seq
MIRT967386	hsa-miR-3178	CLIP-seq
MIRT967387	hsa-miR-3192	CLIP-seq
MIRT2387501	hsa-miR-329	CLIP-seq
MIRT2387502	hsa-miR-362-3p	CLIP-seq
MIRT967399	hsa-miR-4786-3p	CLIP-seq
MIRT2387503	hsa-miR-634	CLIP-seq

Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IBA
GO:0003779	Function	Actin binding	IDA	14565974
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	14565974
GO:0005515	Function	Protein binding	IPI	14565974, 32814053
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0007266	Process	Rho protein signal transduction	IBA
GO:0007266	Process	Rho protein signal transduction	IDA	14565974
GO:0007266	Process	Rho protein signal transduction	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	ISS
GO:0031982	Component	Vesicle	HDA	19190083
GO:0032420	Component	Stereocilium	IEA
GO:0032421	Component	Stereocilium bundle	IEA
GO:0032421	Component	Stereocilium bundle	ISS
GO:0032426	Component	Stereocilium tip	IEA
GO:0032426	Component	Stereocilium tip	ISS
GO:0032587	Component	Ruffle membrane	IBA
GO:0032587	Component	Ruffle membrane	IDA	14565974
GO:0032587	Component	Ruffle membrane	IEA
GO:0032991	Component	Protein-containing complex	IDA	14565974
GO:0035023	Process	Regulation of Rho protein signal transduction	IBA
GO:0035023	Process	Regulation of Rho protein signal transduction	IDA	14565974
GO:0035023	Process	Regulation of Rho protein signal transduction	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043226	Component	Organelle	IEA
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 23533145
GO:1900029	Process	Positive regulation of ruffle assembly	IBA
GO:1900029	Process	Positive regulation of ruffle assembly	IEA
GO:1900029	Process	Positive regulation of ruffle assembly	IGI	14565974

MIM	HGNC	e!Ensembl
614988	21296	ENSG00000177106

Q9H6S3

Protein name

Epidermal growth factor receptor kinase substrate 8-like protein 2 (EPS8-like protein 2) (Epidermal growth factor receptor pathway substrate 8-related protein 2) (EPS8-related protein 2)

Protein function

Stimulates guanine exchange activity of SOS1. May play a role in membrane ruffling and remodeling of the actin cytoskeleton. In the cochlea, is required for stereocilia maintenance in adult hair cells (By similarity). {ECO:0000250|UniProtKB:Q99K

PDB

1WWU , 1WXB

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08416	PTB	51 → 181	Phosphotyrosine-binding domain	Domain
PF00018	SH3_1	498 → 543	SH3 domain	Domain
PF18016	SAM_3	619 → 682	SAM domain (Sterile alpha motif)	Domain

Tissue specificity

TISSUE SPECIFICITY: Detected in fibroblasts and placenta. {ECO:0000269|PubMed:14565974}.

Sequence

MSQSGAVSCCPGATNGSLGRSDGVAKMSPKDLFEQRKKYSNSNVIMHETSQYHVQHLATF
IMDKSEAITSVDDAIRKLVQLSSKEKIWTQEMLLQVNDQSLRLLDIESQEELEDFPLPTV
QRSQTVLNQLRYPSVLLLVCQDSEQSKPDVHFFHCDEVEAELVHEDIESALADCRLGKKM
RPQTLKGHQEKIRQRQSILPPPQGPAPIPFQHRGGDSPEAKNRVGPQVPLSEPGFRRRES
QEEPRAVLAQKIEKETQILNCALDDIEWFVARLQKAAEAFKQLNQRKKGKKKGKKAPAEG
VLTLRARPPSEGEFIDCFQKIKLAINLLAKLQKHIQNPSAAELVHFLFGPLDLIVNTCSG
PDIARSVSCPLLSRDAVDFLRGHLVPKEMSLWESLGESWMRPRSEWPREPQVPLYVPKFH
SGWEPPVDVLQEAPWEVEGLASAPIEEVSPVSRQSIRNSQKHSPTSEPTPPGDALPPVSS
PHTHRGYQPTPAMAKYVKILYDFTARNANELSVLKDEVLEVLEDGRQWWKLRSRSGQAGY
VPCNILGEARPEDAGAPFEQAGQKYWGPASPTHKLPPSFPGNKDELMQHMDEVNDELIRK
ISNIRAQPQRHFRVERSQPVSQPLTYESGPDEVRAWLEAKAFSPRIVENLGILTGPQLFS
LNKEELKKVCGEEGVRVYSQLTMQKAFLEKQQSGSELEELMNKFHSMNQRRGEDS

Sequence length

715

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
Hearing loss, autosomal recessive 106	Pathogenic	rs2133499883, rs758700198, rs1554952443, rs1554952193	RCV001809332 RCV001809333 RCV000499522 RCV000501995	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (9)

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.
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 106	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPS8L2-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS, AUTOSOMAL RECESSIVE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	-	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meniere disease	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (2)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Deafness	Associate	26282398	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Associate	26282398, 28281779	★★★★★ ★☆☆☆☆ Found in Text Mining only

EPS8L2 (EPS8 signaling adaptor L2)