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    EPN2 epsin 2 [ Homo sapiens (human) ]

    Gene ID: 22905, updated on 9-Jun-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
    NEW
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (19237366..19336715)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (19185353..19284762)
    105.20220307 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
    • 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)

    NEW Try the new Transcript table

    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_2023_10

    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)