EPN2 (epsin 2)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 22905 |
| Gene name | Epsin 2 |
| Gene symbol | EPN2 |
| Synonyms (NCBI Gene) |
EHB21
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| 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 |
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miRNA
miRNA information provided by mirtarbase database.
220
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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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
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| Tissue specificity | TISSUE SPECIFICITY: Highest expression is found in brain. Detected at lower levels in lung and liver. {ECO:0000269|PubMed:10567358}. | ||||||||||
| Sequence |
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| Sequence length | 641 | ||||||||||
| Interactions | View interactions | ||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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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)
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