Gene Gene information from NCBI Gene database.
Entrez ID 22905
Gene name Epsin 2
Gene symbol EPN2
Synonyms (NCBI Gene)
EHB21
Chromosome 17
Chromosome location 17p11.2
Summary This gene encodes a protein which interacts with clathrin and adaptor-related protein complex 2, alpha 1 subunit. The protein is found in a brain-derived clathrin-coated vesicle fraction and localizes to the peri-Golgi region and the cell periphery. The p
miRNA miRNA information provided by mirtarbase database.
220
miRTarBase ID miRNA Experiments Reference
MIRT018537 hsa-miR-335-5p Reporter assay;Western blot 21618216
MIRT040434 hsa-miR-615-3p CLASH 23622248
MIRT647896 hsa-miR-4282 HITS-CLIP 23824327
MIRT647895 hsa-miR-6515-3p HITS-CLIP 23824327
MIRT647894 hsa-miR-1236-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 18199683, 32296183, 37207277
GO:0005543 Function Phospholipid binding IBA
GO:0005737 Component Cytoplasm IEA
GO:0005768 Component Endosome IBA
GO:0005829 Component Cytosol TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607263 18639 ENSG00000072134
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O95208
Protein name Epsin-2 (EPS-15-interacting protein 2)
Protein function Plays a role in the formation of clathrin-coated invaginations and endocytosis.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01417 ENTH 17 140 ENTH domain Domain
Tissue specificity TISSUE SPECIFICITY: Highest expression is found in brain. Detected at lower levels in lung and liver. {ECO:0000269|PubMed:10567358}.
Sequence
MTTSSIRRQMKNIVNNYSEAEIKVREATSNDPWGPSSSLMTEIADLTYNVVAFSEIMSMV
WKRLNDHGKNWRHVYKALTLLDYLIKTGSERVAQQCRENIFAIQTLKDFQYIDRDGKDQG
INVREKSKQLVALLKDEERL
KAERAQALKTKERMAQVATGMGSNQITFGRGSSQPNLSTS
HSEQEYGKAGGSPASYHGSPEASLCPQHRTGAPLGQSEELQPLSQRHPFLPHLGLASRPN
GDWSQPCLTCDRAARATSPRVSSELEQARPQTSGEEELQLQLALAMSREVAEQEERLRRG
DDLRLQMALEESRRDTVKIPKKKEHGSLPQQTTLLDLMDALPSSGPAAQKAEPWGPSAST
NQTNPWGGPAAPASTSDPWPSFGTKPAASIDPWGVPTGATVQSVPKNSDPWAASQQPASS
AGKRASDAWGAVSTTKPVSVSGSFELFSNLNGTIKDDFSEFDNLRTSKKTAESVTSLPSQ
NNGTTSPDPFESQPLTVASSKPSSARKTPESFLGPNAALVNLDSLVTRPAPPAQSLNPFL
APGAPATSAPVNPFQVNQPQPLTLNQLRGSPVLGTSTSFGPGPGVESMAVASMTSAAPQP
ALGATGSSLTPLGPAMMNMVGSVGIPPSAAQATGTTNPFLL
Sequence length 641
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Endocytosis   Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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)
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.
Phenotype Name Clinical Significance Source Evidence Score
Cholangiocarcinoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Dementia Vascular Vascular dementia Pubtator 39909351 Associate
★☆☆☆☆
Found in Text Mining only
Schizophrenia Schizophrenia GWASCAT_DG 26198764, 31374203
★★☆☆☆
Found in Text Mining + Unknown/Other Associations