EPN2 Gene - Epsin 2
Comprehensive genomic and functional overview of EPN2, a clathrin-mediated endocytosis adaptor protein.
Gene Information Card
| Symbol | EPN2 |
|---|---|
| Full Name | Epsin 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 17p11.2 |
| NCBI Gene ID | 22905 ncbi.nlm.nih.gov/gene/22905 |
| Ensembl ID | ENSG00000108556 |
| UniProt ID | O95208 |
| OMIM ID | 607263 |
| HGNC ID | 18273 |
| Aliases | EPS-15 interacting protein 2, EPN2_HUMAN |
Description
EPN2 (epsin 2) encodes a member of the epsin family of endocytic adaptor proteins. It contains an N-terminal ENTH domain that binds phosphoinositides and a C-terminal region that interacts with clathrin and other endocytic machinery. EPN2 is involved in clathrin-mediated endocytosis, receptor internalization, and intracellular trafficking. Alternative splicing generates multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary spastic paraplegia (HSP) | EPN2 mutations disrupt endocytic trafficking in neurons, leading to axonal degeneration. | ClinVar, OMIM |
| Cancer (general) | Altered EPN2 expression may affect receptor tyrosine kinase signaling and tumor progression. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | Embryonic kidney cells |
| SH-SY5Y | 18.5 | Neuroblastoma cells |
| A549 | 7.2 | Lung carcinoma cells |
| HepG2 | 5.8 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349*) | Nonsense | <0.01% | Premature stop; loss of function in HSP |
| c.1280A>G (p.Asn427Ser) | Missense | <0.01% | Unknown significance; reported in ClinVar |
| c.1573G>A (p.Glu525Lys) | Missense | <0.01% | Likely benign |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in EPN2 are associated with hereditary spastic paraplegia, likely due to haploinsufficiency or impaired endocytosis.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in EPN2.
Dominant Negative (DN)
Some missense variants may act in a dominant-negative manner by disrupting clathrin binding, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • phosphatidylinositol binding (GO:0005545) | • clathrin binding (GO:0030276) |
| • endocytosis (GO:0006897) | • clathrin-coated pit (GO:0005905) |
| • clathrin coat assembly (GO:0048268) |
Pathways
• Clathrin-mediated endocytosis (Reactome R-HSA-8856828)
• Endocytosis (KEGG hsa04144)
Protein Summary
Epsin 2 is a 625-amino acid protein with an N-terminal ENTH domain that binds phosphatidylinositol-4,5-bisphosphate, and C-terminal motifs that interact with clathrin, AP-2, and ubiquitin. It functions as an adaptor in clathrin-mediated endocytosis, facilitating membrane curvature and cargo selection. EPN2 is widely expressed, with highest levels in brain and testis. Mutations in EPN2 cause hereditary spastic paraplegia, and altered expression is observed in various cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EPN2 Knockout HEK293 Cell Line | EDJ-KQ7734 | Human | 22905 | Details Get a Quote |
| EPN2 Knockout A-549 Cell Line | EDJ-KQ33153 | Human | 22905 | Details Get a Quote |
| EPN2 Knockout HeLa Cell Line | EDJ-KQ33155 | Human | 22905 | Details Get a Quote |
| EPN2 Knockout HCT 116 Cell Line | EDJ-KQ31830 | Human | 22905 | Details Get a Quote |
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