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EPN2 epsin 2 [ Homo sapiens (human) ]

Gene ID: 22905, updated on 13-Mar-2020

Summary

Official Symbol
EPN2provided by HGNC
Official Full Name
epsin 2provided by HGNC
Primary source
HGNC:HGNC:18639
See related
Ensembl:ENSG00000072134 MIM:607263
Gene type
protein coding
RefSeq status
REVIEWED
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

Genomic context

See EPN2 in Genome Data Viewer
Location:
17p11.2
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (19237377..19336715)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (19140690..19240028)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized protein ENSP00000382042 Neighboring gene kynureninase pseudogene 3 Neighboring gene EPN2 intronic transcript 1 Neighboring gene EPN2 antisense RNA 1 Neighboring gene B9 domain containing 1 Neighboring gene microRNA 1180 Neighboring gene uncharacterized LOC105371573

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1065

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cadherin binding HDA PubMed 
lipid binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
endocytosis IEA
Inferred from Electronic Annotation
more info
 
membrane organization TAS
Traceable Author Statement
more info
 
negative regulation of sprouting angiogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of vascular endothelial growth factor receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of Notch signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
clathrin coat of endocytic vesicle IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
epsin-2
Names
EPS-15-interacting protein 2
Eps15 binding protein

NCBI Reference Sequences (RefSeq)

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)

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

    Status: REVIEWED

    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)
    AC124066, AK092366, DA220261, DC316524
    Consensus CDS
    CCDS42277.1
    UniProtKB/Swiss-Prot
    O95208
    Related
    ENSP00000378980.3, ENST00000395618.7
    Conserved Domains (1) summary
    PHA03247
    Location:44349
    PHA03247; large tegument protein UL36; Provisional
  2. NM_014964.4NP_055779.2  epsin-2 isoform b

    See identical proteins and their annotated locations for NP_055779.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the longest transcript and encodes the longest isoform (b).
    Source sequence(s)
    AB028988, AC124066, AK092366, DC316524
    Consensus CDS
    CCDS11203.1
    UniProtKB/Swiss-Prot
    O95208
    Related
    ENSP00000320543.5, ENST00000314728.9
    Conserved Domains (1) summary
    cd03571
    Location:19141
    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 ...
  3. NM_148921.3NP_683723.2  epsin-2 isoform a

    Status: REVIEWED

    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)
    AC124066, AK092366, BC093972, DC316524
    Consensus CDS
    CCDS11204.1
    UniProtKB/Swiss-Prot
    O95208
    Related
    ENSP00000261495.3, ENST00000347697.6
    Conserved Domains (1) summary
    cd03571
    Location:19141
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    19237377..19336715
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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