1. Gene
  2. EPN2 - epsin 2 Gene

EPN2 - epsin 2 Gene

Homo sapiens

Also known as EHB21

Gene ID: 22905 | Gene type: protein coding

About EPN2

Cytogenetic location: 17p11.2 Genomic coordinates (GRCh38): 17:19,237,366-19,336,715 (from NCBI)

This gene has 27 transcripts (splice variants), 207 orthologues and 5 paralogues. Ubiquitous expression in brain (RPKM 30.1), skin (RPKM 20.7) and 25 other tissues.

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 protein is thought to be involved in clathrin-mediated endocytosis. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

EPN2 Products(3)

mRNA Protein Name
NM_001102664.2 NP_001096134.1 epsin-2 isoform c
NM_014964.5 NP_055779.2 epsin-2 isoform b
NM_148921.4 NP_683723.2 epsin-2 isoform a

EPN2 Protein Structure

ENTH

ENTH: ENTH domain (17 - 140)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 600
  • 641 a.a.
Protein Preferred Names Protein Names

epsin-2

EPS-15-interacting protein 2

Related Diseases

Diseases Alias
Adult Spinal Cord Ependymoma
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta EPN2 VGNC VGNC:72070
Canis familiaris EPN2 VGNC VGNC:40420
Bos taurus EPN2 VGNC VGNC:28547
Rattus norvegicus EPN2 RGD RGD:619773
Felis catus EPN2 VGNC VGNC:61913
Mus musculus EPN2 MGD MGI:1333766