• Gene id: 22905

Gene Summary

• Gene Symbol: EPN2   Gene   UCSC   Ensembl
• Aliases: EHB21
• Gene name: epsin 2
• Alternate names: epsin-2, EPS-15-interacting protein 2, Eps15 binding protein,
• Gene location: 17p11.2 (19237376: 19336714)     Exons: 11     NC_000017.11
• Gene summary(Entrez): 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
• OMIM: 600844

Protein Summary

• Protein general information: O95208  
  • Name: Epsin 2 (EPS 15 interacting protein 2)
  • Length: 641  
  • Mass: 68482
  • Tissue specificity: Highest expression is found in brain. Detected at lower levels in lung and liver. {ECO
• Sequence:

  MTTSSIRRQMKNIVNNYSEAEIKVREATSNDPWGPSSSLMTEIADLTYNVVAFSEIMSMVWKRLNDHGKNWRHVY
  KALTLLDYLIKTGSERVAQQCRENIFAIQTLKDFQYIDRDGKDQGINVREKSKQLVALLKDEERLKAERAQALKT
  KERMAQVATGMGSNQITFGRGSSQPNLSTSHSEQEYGKAGGSPASYHGSPEASLCPQHRTGAPLGQSEELQPLSQ
  RHPFLPHLGLASRPNGDWSQPCLTCDRAARATSPRVSSELEQARPQTSGEEELQLQLALAMSREVAEQEERLRRG
  DDLRLQMALEESRRDTVKIPKKKEHGSLPQQTTLLDLMDALPSSGPAAQKAEPWGPSASTNQTNPWGGPAAPAST
  SDPWPSFGTKPAASIDPWGVPTGATVQSVPKNSDPWAASQQPASSAGKRASDAWGAVSTTKPVSVSGSFELFSNL
  NGTIKDDFSEFDNLRTSKKTAESVTSLPSQNNGTTSPDPFESQPLTVASSKPSSARKTPESFLGPNAALVNLDSL
  VTRPAPPAQSLNPFLAPGAPATSAPVNPFQVNQPQPLTLNQLRGSPVLGTSTSFGPGPGVESMAVASMTSAAPQP
  ALGATGSSLTPLGPAMMNMVGSVGIPPSAAQATGTTNPFLL

• Structural information:
  • Protein Domains: (12..14-)
    (/note="ENTH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00243-)
    (275..29-)
    (/note="UIM-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00213-)
    (300..31-)
    (/note="UIM-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00213"-)
  • Interpro: IPR013809  IPR008942  IPR027319  IPR003903  
  • Prosite: PS50942 PS50330
  • STRING: ENSP00000320543
• Other Databases: GeneCards:  EPN2  Malacards:  EPN2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005543	phospholipid binding	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0006897	endocytosis	IBA	biological process
GO:0030276	clathrin binding	IBA	molecular function
GO:0005768	endosome	IBA	cellular component
GO:0030125	clathrin vesicle coat	IBA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0030128	clathrin coat of endocytic vesicle	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0061024	membrane organization	TAS	biological process
GO:1903671	negative regulation of sprouting angiogenesis	IMP	biological process
GO:0045747	positive regulation of Notch signaling pathway	IMP	biological process
GO:0030948	negative regulation of vascular endothelial growth factor receptor signaling pathway	IMP	biological process
GO:0045296	cadherin binding	HDA	molecular function
GO:0030136	clathrin-coated vesicle	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq