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EPN2 epsin 2 [ Homo sapiens (human) ]

Gene ID: 22905, updated on 3-Nov-2024

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
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Genomic context

See EPN2 in Genome Data Viewer
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_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:19117744-19118272 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:19118273-19118802 Neighboring gene uncharacterized protein ENSP00000382042 Neighboring gene kynureninase pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8285 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11850 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11851 Neighboring gene EPN2 intronic transcript 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8286 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:19189003-19189551 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:19192933-19193526 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11852 Neighboring gene EPN2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11853 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:19212235-19213151 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:19213152-19214067 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:19220479-19221018 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:19233317-19233511 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19234824-19235596 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11854 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11855 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19237143-19237914 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8287 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19244665-19245232 Neighboring gene Sharpr-MPRA regulatory region 2588 Neighboring gene B9 domain containing 1 Neighboring gene microRNA 1180 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19261015-19261514 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11856 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8288 Neighboring gene uncharacterized LOC105371573 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19266095-19266879 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8289

Genomic regions, transcripts, and products

Expression

  • 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

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

Clone Names

  • KIAA1065

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cadherin binding HDA 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 
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

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)

  1. NM_001102664.2NP_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:44349
    PHA03247; large tegument protein UL36; Provisional
  2. NM_014964.5NP_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: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_148921.4NP_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: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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    19237366..19336715
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    19185353..19284762
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)