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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 (Epsin 2) is a Protein Coding gene. Diseases associated with EPN2 include Schwartz-Jampel Syndrome, Type 1. Among its related pathways are Clathrin-mediated endocytosis and Notch Signaling Pathway (WikiPathways). Gene Ontology (GO) annotations related to this gene include lipid binding and phospholipid binding. An important paralog of this gene is EPN1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 18199683 |
GO:0005543 | phospholipid binding | IBA | 21873635 |
GO:0008289 | lipid binding | IEA | -- |
GO:0030276 | clathrin binding | IBA | 21873635 |
GO:0045296 | cadherin binding | HDA | 25468996 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005768 | endosome | IBA | 21873635 |
GO:0005829 | cytosol | TAS | -- |
GO:0005886 | plasma membrane | IBA | 21873635 |
GO:0030125 | clathrin vesicle coat | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Sertoli-Sertoli Cell Junction Dynamics |
Germ Cell-Sertoli Cell Junction Dynamics
.38
|
Sertoli-Sertoli Cell Junction Dynamics
.38
|
2 | Clathrin-mediated endocytosis | ||
3 | Vesicle-mediated transport | ||
4 | Endocytosis | ||
5 | Notch Signaling Pathway (WikiPathways) |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006897 | endocytosis | IEA,IBA | 21873635 |
GO:0030948 | negative regulation of vascular endothelial growth factor receptor signaling pathway | IMP | 28717225 |
GO:0045747 | positive regulation of Notch signaling pathway | IMP | 28717225 |
GO:0061024 | membrane organization | TAS | -- |
GO:1903671 | negative regulation of sprouting angiogenesis | IMP | 28717225 |
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | · | 14c | ^ | 15a | · | 15b | ^ | 16a | · | 16b | · | 16c | ^ | 17 | ^ | 18a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||
SP12: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP13: |
ExUns: | 18b | ^ | 19a | · | 19b |
---|---|---|---|---|---|
SP1: | |||||
SP2: | |||||
SP3: | |||||
SP4: | |||||
SP5: | |||||
SP6: | |||||
SP7: | |||||
SP8: | |||||
SP9: | |||||
SP10: | |||||
SP11: | - | ||||
SP12: | |||||
SP13: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | EPN2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | EPN2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Epn2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Epn2 30 |
|
||
Cow (Bos Taurus) |
Mammalia | EPN2 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | EPN2 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | EPN2 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | EPN2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | Str.5290 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | epn2 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | lqf 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | epn-1 31 |
|
OneToMany | |
T04C10.2a 32 |
|
|
|||
T04C10.2b 32 |
|
|
|||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ENT3 31 33 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv895e212 | CNV | loss | 25503493 |
esv25927 | CNV | gain+loss | 19812545 |
esv2665186 | CNV | deletion | 23128226 |
esv2758678 | CNV | gain+loss | 17122850 |
esv33572 | CNV | gain | 17666407 |
esv3414207 | CNV | insertion | 20981092 |
esv3582561 | CNV | loss | 25503493 |
nsv1061317 | CNV | gain | 25217958 |
nsv1127544 | CNV | deletion | 24896259 |
nsv1134608 | CNV | deletion | 24896259 |
nsv2001 | CNV | deletion | 18451855 |
nsv428336 | CNV | gain+loss | 18775914 |
nsv833391 | CNV | loss | 17160897 |
nsv833393 | CNV | gain+loss | 17160897 |
nsv9504 | CNV | gain+loss | 18304495 |
nsv953844 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
schwartz-jampel syndrome, type 1 |
|
|