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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	55040
Gene name	Epsin 3
Gene symbol	EPN3
Synonyms (NCBI Gene)	-
Chromosome	17
Chromosome location	17q21.33

Show/Hide all (83)

miRTarBase ID	miRNA	Experiments
MIRT967126	hsa-miR-1197	CLIP-seq
MIRT967127	hsa-miR-1205	CLIP-seq
MIRT967128	hsa-miR-1224-5p	CLIP-seq
MIRT967129	hsa-miR-1245	CLIP-seq
MIRT967130	hsa-miR-1825	CLIP-seq
MIRT967131	hsa-miR-198	CLIP-seq
MIRT967132	hsa-miR-199a-5p	CLIP-seq
MIRT967133	hsa-miR-199b-5p	CLIP-seq
MIRT967134	hsa-miR-203	CLIP-seq
MIRT967135	hsa-miR-2467-3p	CLIP-seq
MIRT967136	hsa-miR-3064-5p	CLIP-seq
MIRT967137	hsa-miR-3158-5p	CLIP-seq
MIRT967138	hsa-miR-3545-5p	CLIP-seq
MIRT967139	hsa-miR-3612	CLIP-seq
MIRT967140	hsa-miR-3646	CLIP-seq
MIRT967141	hsa-miR-3678-3p	CLIP-seq
MIRT967142	hsa-miR-3689a-5p	CLIP-seq
MIRT967143	hsa-miR-3689b	CLIP-seq
MIRT967144	hsa-miR-3689e	CLIP-seq
MIRT967145	hsa-miR-3689f	CLIP-seq
MIRT967146	hsa-miR-371-3p	CLIP-seq
MIRT967147	hsa-miR-371b-3p	CLIP-seq
MIRT967148	hsa-miR-383	CLIP-seq
MIRT967149	hsa-miR-4302	CLIP-seq
MIRT967150	hsa-miR-4443	CLIP-seq
MIRT967151	hsa-miR-4534	CLIP-seq
MIRT967152	hsa-miR-4751	CLIP-seq
MIRT967153	hsa-miR-4763-5p	CLIP-seq
MIRT967154	hsa-miR-4772-5p	CLIP-seq
MIRT967155	hsa-miR-4802-5p	CLIP-seq
MIRT967156	hsa-miR-485-5p	CLIP-seq
MIRT967157	hsa-miR-515-3p	CLIP-seq
MIRT967158	hsa-miR-519e	CLIP-seq
MIRT967159	hsa-miR-604	CLIP-seq
MIRT967160	hsa-miR-642b	CLIP-seq
MIRT967161	hsa-miR-647	CLIP-seq
MIRT967162	hsa-miR-650	CLIP-seq
MIRT1920408	hsa-miR-3192	CLIP-seq
MIRT1920409	hsa-miR-4300	CLIP-seq
MIRT1920410	hsa-miR-661	CLIP-seq
MIRT1920411	hsa-miR-920	CLIP-seq
MIRT1986493	hsa-miR-145	CLIP-seq
MIRT1986494	hsa-miR-4267	CLIP-seq
MIRT1986495	hsa-miR-4328	CLIP-seq
MIRT1986496	hsa-miR-4532	CLIP-seq
MIRT967153	hsa-miR-4763-5p	CLIP-seq
MIRT1986497	hsa-miR-4767	CLIP-seq
MIRT1986498	hsa-miR-4795-3p	CLIP-seq
MIRT1986499	hsa-miR-593	CLIP-seq
MIRT2221011	hsa-miR-1245b-5p	CLIP-seq
MIRT1986493	hsa-miR-145	CLIP-seq
MIRT2221012	hsa-miR-2115	CLIP-seq
MIRT2221013	hsa-miR-2116	CLIP-seq
MIRT2221014	hsa-miR-217	CLIP-seq
MIRT2221015	hsa-miR-3064-3p	CLIP-seq
MIRT2221016	hsa-miR-3142	CLIP-seq
MIRT2221017	hsa-miR-3164	CLIP-seq
MIRT2221018	hsa-miR-3180-5p	CLIP-seq
MIRT2221019	hsa-miR-33a	CLIP-seq
MIRT2221020	hsa-miR-33b	CLIP-seq
MIRT2221021	hsa-miR-3648	CLIP-seq
MIRT2221022	hsa-miR-3655	CLIP-seq
MIRT2221023	hsa-miR-3925-3p	CLIP-seq
MIRT1986494	hsa-miR-4267	CLIP-seq
MIRT2221024	hsa-miR-4289	CLIP-seq
MIRT2221025	hsa-miR-432	CLIP-seq
MIRT1986495	hsa-miR-4328	CLIP-seq
MIRT2221026	hsa-miR-4494	CLIP-seq
MIRT1986496	hsa-miR-4532	CLIP-seq
MIRT2221027	hsa-miR-4645-5p	CLIP-seq
MIRT2221028	hsa-miR-4650-5p	CLIP-seq
MIRT2221029	hsa-miR-4673	CLIP-seq
MIRT2221030	hsa-miR-4677-5p	CLIP-seq
MIRT2221031	hsa-miR-4713-3p	CLIP-seq
MIRT2221032	hsa-miR-4727-5p	CLIP-seq
MIRT1986497	hsa-miR-4767	CLIP-seq
MIRT2221033	hsa-miR-4769-3p	CLIP-seq
MIRT2221034	hsa-miR-4793-5p	CLIP-seq
MIRT1986498	hsa-miR-4795-3p	CLIP-seq
MIRT2221035	hsa-miR-520a-5p	CLIP-seq
MIRT2221036	hsa-miR-525-5p	CLIP-seq
MIRT2221037	hsa-miR-578	CLIP-seq
MIRT2221038	hsa-miR-766	CLIP-seq

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	20709745
GO:0005543	Function	Phospholipid binding	IBA
GO:0005634	Component	Nucleus	IDA	11359770
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IBA
GO:0005886	Component	Plasma membrane	IBA
GO:0005905	Component	Clathrin-coated pit	IEA
GO:0006897	Process	Endocytosis	IBA
GO:0008289	Function	Lipid binding	IEA
GO:0009898	Component	Cytoplasmic side of plasma membrane	IDA	20709745
GO:0030125	Component	Clathrin vesicle coat	IBA
GO:0030136	Component	Clathrin-coated vesicle	IDA	11359770
GO:0030136	Component	Clathrin-coated vesicle	IEA
GO:0030276	Function	Clathrin binding	IBA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	11359770
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:1990175	Function	EH domain binding	IEA

MIM	HGNC	e!Ensembl
607264	18235	ENSG00000049283

Q9H201

Protein name

Epsin-3 (EPS-15-interacting protein 3)

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01417	ENTH	17 → 140	ENTH domain	Domain
PF02809	UIM	209 → 225	Ubiquitin interaction motif	Motif
PF02809	UIM	236 → 252	Ubiquitin interaction motif	Motif

Tissue specificity

TISSUE SPECIFICITY: Detected in migrating keratinocytes from wounded skin, but not in differentiating keratinocytes or in normal skin. Detected in chronic wounds, basal cell carcinoma and ulcerative colitis. {ECO:0000269|PubMed:11359770}.

Sequence

MTTSALRRQVKNIVHNYSEAEIKVREATSNDPWGPPSSLMSEIADLTFNTVAFTEVMGML
WRRLNDSGKNWRHVYKALTLLDYLLKTGSERVAHQCRENLYTIQTLKDFQYIDRDGKDQG
VNVREKVKQVMALLKDEERLRQERTHALKTKERMALEGIGIGSGQLGFSRRYGEDYSRSR
GSPSSYNSSSSSPRYTSDLEQARPQTSGEEELQLQLALAMSREEAEKPVPPASHRDEDLQ
LQLALRLSRQEHEKEVRSWQGDGSPMANGAGAVVHHQRDREPEREERKEEEKLKTSQSSI
LDLADIFVPALAPPSTHCSADPWDIPGFRPNTEASGSSWGPSADPWSPIPSGTVLSRSQP
WDLTPMLSSSEPWGRTPVLPAGPPTTDPWALNSPHHKLPSTGADPWGASLETSDTPGGAS
TFDPFAKPPESTETKEGLEQALPSGKPSSPVELDLFGDPSPSSKQNGTKEPDALDLGILG
EALTQPSKEARACRTPESFLGPSASSLVNLDSLVKAPQVAKTRNPFLTGLSAPSPTNPFG
AGEPGRPTLNQMRTGSPALGLAGGPVGAPLGSMTYSASLPLPLSSVPAGLTLPASVSVFP
QAGAFAPQPLLPTPSSAGPRPPPPQTGTNPFL

Sequence length

632

Interactions

View interactions

	KEGG
	Endocytosis

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 Unknown Diseases (2)

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.
HALLOPEAU-SIEMENS DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE, DIASTOLIC	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Breast Neoplasms	Associate	27926932, 32541686, 34779498	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Associate	28152424	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Associate	27765924	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastritis	Inhibit	28152424	★★★★★ ★☆☆☆☆ Found in Text Mining only
Helicobacter Infections	Inhibit	28152424	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Associate	32541686	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammation	Inhibit	28152424	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	27926932	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Inhibit	28152424	★★★★★ ★☆☆☆☆ Found in Text Mining only

EPN3 (epsin 3)