1. Gene
  2. EPN3 - epsin 3 Gene

EPN3 - epsin 3 Gene

Homo sapiens
Gene ID: 55040 | Gene type: protein coding

About EPN3

Cytogenetic location: 17q21.33 Genomic coordinates (GRCh38): 17:50,532,735-50,543,750 (from NCBI)

This gene has 17 transcripts (splice variants), 250 orthologues and 5 paralogues. Broad expression in stomach (RPKM 11.8), esophagus (RPKM 7.2) and 16 other tissues.

Summary

Predicted to enable clathrin binding activity and phospholipid binding activity. Predicted to be involved in endocytosis. Located in clathrin-coated vesicle; nucleoplasm; and perinuclear region of cytoplasm. Is extrinsic component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

EPN3 Products(1)

mRNA Protein Name
NM_017957.3 NP_060427.2 epsin-3

EPN3 Protein Structure

ENTH

ENTH: ENTH domain (17 - 140)

UIM

UIM: Ubiquitin interaction motif (209 - 225)

UIM

UIM: Ubiquitin interaction motif (236 - 252)

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  • 632 a.a.
Protein Preferred Names Protein Names

epsin-3

EPS-15-interacting protein 3

Related Diseases

Diseases Alias
Adult Spinal Cord Ependymoma
Brain Ependymoma

Ependymal Tumor Of Brain

Ependymoma Of Brain

Deafness, Autosomal Dominant 28

DFNA28

Autosomal Dominant Nonsyndromic Deafness 28

Autosomal Dominant Deafness 28

Deafness, Autosomal Dominant, 28

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 28

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 28

Deafness, Autosomal Dominant, Type 28

Basal Cell Carcinoma

Basal Cell Cancer

Basal Cell Neoplasm

Basal Cell Carcinoma Of Skin

Malignant Basal Cell Tumor

Basal Cell Tumor

Epithelioma Basal Cell

Malignant Basal Cell Neoplasm

Rodent Ulcer

Carcinoma Basal Cell

Neoplasms, Basal Cell

Basal Cell Carcinomas

Experimental Organism Basal Cell Carcinoma

Nodulo-Ulcerative Basal Cell Carcinoma

Basalioma

Basal Cell Epithelioma Of Skin

Bcc - [Basal Cell Carcinoma] Of Skin

Rodent Ulcer Of Skin

Rodent Ulcer Of Unspecified Site

Basal Cell Epithelioma Of Unspecified Site

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
Rattus norvegicus EPN3 RGD RGD:1306416
Bos taurus EPN3 VGNC VGNC:28548
Felis catus EPN3 VGNC VGNC:61914
Mus musculus EPN3 MGD MGI:1919139
Macaca mulatta EPN3 VGNC VGNC:72068
Canis familiaris EPN3 VGNC VGNC:40421