EPN2 epsin 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EPN2provided by HGNC
Official Full Name: epsin 2provided by HGNC
Primary source: HGNC:HGNC:18639
See related: Ensembl:ENSG00000072134 MIM:607263; AllianceGenome:HGNC:18639
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EHB21
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]
Expression: Ubiquitous expression in brain (RPKM 30.1), skin (RPKM 20.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p11.2

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (19237366..19336715)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (19185353..19284762)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (19140679..19240028)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

EPN2 mRNA is a direct target of miR-1224.
Title: A mammalian mirtron miR-1224 promotes tube-formation of human primary endothelial cells by targeting anti-angiogenic factor epsin2.
Epsins are required for Dishevelled stability and Wnt signalling activation in colon cancer development.
Title: Epsin is required for Dishevelled stability and Wnt signalling activation in colon cancer development.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Rev	rev	HIV-1 Rev interacting protein, epsin 2 (EPN2), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with EPN2 is increased by RRE	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-W72824 (e-PCR)
- UniSTS:64062

EPN2__7600 (e-PCR)
- UniSTS:468052

RH76524 (e-PCR)
- UniSTS:83864

D17S1768 (e-PCR)
- UniSTS:57010

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cadherin binding	HDA more info	PubMed
enables clathrin binding	IBA Inferred from Biological aspect of Ancestor more info
enables phospholipid binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in endocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of sprouting angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of vascular endothelial growth factor receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of Notch signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of clathrin vesicle coat	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: epsin-2

Names: EPS-15-interacting protein 2; Eps15 binding protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001102664.2 → NP_001096134.1 epsin-2 isoform c

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and coding region compared to variant 2. The resulting isoform (c) is shorter at the N-terminus compared to isoform b.

Source sequence(s)

AC106017, AC124066

Consensus CDS

CCDS42277.1

UniProtKB/TrEMBL

I3L2H1

Related

ENSP00000378980.3, ENST00000395618.7

Conserved Domains (1) summary

PHA03247
Location:44 → 349

PHA03247; large tegument protein UL36; Provisional
NM_014964.5 → NP_055779.2 epsin-2 isoform b

See identical proteins and their annotated locations for NP_055779.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) represents the longest transcript and encodes the longest isoform (b).

Source sequence(s)

AC106017, AC124066

Consensus CDS

CCDS11203.1

UniProtKB/Swiss-Prot

A8MTV8, B3KRX8, E9PBC2, O95207, O95208, Q52LD0, Q9H7Z2, Q9UPT7

UniProtKB/TrEMBL

I3L2B2

Related

ENSP00000320543.5, ENST00000314728.10

Conserved Domains (1) summary

cd03571
Location:19 → 141

ENTH_epsin; ENTH domain, Epsin family; The epsin (Eps15 interactor) N-terminal homology (ENTH) domain is an evolutionarily conserved protein module found primarily in proteins that participate in clathrin-mediated endocytosis. A set of proteins previously designated ...
NM_148921.4 → NP_683723.2 epsin-2 isoform a

Status: VALIDATED

Description

Transcript Variant: This variant (1) lacks an alternate in-frame exon compared to variant 2. The resulting isoform (a) has the same N- and C-termini but is shorter compared to isoform b.

Source sequence(s)

AC106017, AC124066

Consensus CDS

CCDS11204.1

UniProtKB/TrEMBL

I3L2B2

Related

ENSP00000261495.3, ENST00000347697.6

Conserved Domains (1) summary

cd03571
Location:19 → 141

ENTH_epsin; ENTH domain, Epsin family; The epsin (Eps15 interactor) N-terminal homology (ENTH) domain is an evolutionarily conserved protein module found primarily in proteins that participate in clathrin-mediated endocytosis. A set of proteins previously designated ...