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EPN2 Gene(Protein Coding)

Epsin 2

GCID:
GC17P019215
GIFtS:
58
Genes Participants
UDN Logo

Aliases for EPN2 Gene

Aliases for EPN2 Gene

  • Epsin 2 2 3 5
  • EPS-15-Interacting Protein 2 3 4
  • Eps15 Binding Protein 2 3
  • KIAA1065 4
  • EHB21 3

External Ids for EPN2 Gene

Previous GeneCards Identifiers for EPN2 Gene

  • GC17P019198
  • GC17P020612
  • GC17P019045
  • GC17P019302
  • GC17P019081
  • GC17P019140
  • GC17P018522
  • GC17P019118

Summaries for EPN2 Gene

Entrez Gene Summary for EPN2 Gene

  • 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]

GeneCards Summary for EPN2 Gene

EPN2 (Epsin 2) is a Protein Coding gene. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Endocytic Trafficking of EGFR. GO annotations related to this gene include lipid binding and phospholipid binding. An important paralog of this gene is EPN3.

UniProtKB/Swiss-Prot for EPN2 Gene

  • Plays a role in the formation of clathrin-coated invaginations and endocytosis.

Gene Wiki entry for EPN2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPN2 Gene

Genomics for EPN2 Gene

Products:

  1. Regulatory Element

Regulatory Elements for EPN2 Gene

Enhancers for EPN2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around EPN2 on UCSC Golden Path with GeneCards custom track

Promoters for EPN2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EPN2 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the EPN2 gene promoter:

Genomic Location for EPN2 Gene

Chromosome:
17
Start:
19,215,615 bp from pter
End:
19,336,715 bp from pter
Size:
121,101 bases
Orientation:
Plus strand

Genomic View for EPN2 Gene

Genes around EPN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EPN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EPN2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for EPN2 Gene

Proteins for EPN2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for EPN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95208-EPN2_HUMAN
    Recommended name:
    Epsin-2
    Protein Accession:
    O95208
    Secondary Accessions:
    • A8MTV8
    • B3KRX8
    • E9PBC2
    • O95207
    • Q52LD0
    • Q9H7Z2
    • Q9UPT7

    Protein attributes for EPN2 Gene

    Size:
    641 amino acids
    Molecular mass:
    68482 Da
    Quaternary structure:
    • Binds EPS15 (By similarity). Interacts with ITSN1 (By similarity). Binds AP-2 and clathrin. Interacts with UBQLN2.
    SequenceCaution:
    • Sequence=BAA83017.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAG52540.1; Type=Erroneous termination; Positions=324; Note=Translated as Glu.; Evidence={ECO:0000305};

    Alternative splice isoforms for EPN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EPN2 Gene

Proteomics data for EPN2 Gene at MOPED

Protein Expression for EPN2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for EPN2 Gene

Other Protein References for EPN2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EPN2 Gene

Domains & Families for EPN2 Gene

Protein Domains for EPN2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for EPN2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O95208

UniProtKB/Swiss-Prot:

EPN2_HUMAN :
  • The NPF repeat domain is involved in EPS15 binding.
  • Belongs to the epsin family.
Domain:
  • The NPF repeat domain is involved in EPS15 binding.
  • The DPW repeat domain is involved in AP-2 and clathrin binding.
  • Contains 1 ENTH (epsin N-terminal homology) domain.
  • Contains 2 UIM (ubiquitin-interacting motif) domains.
Family:
  • Belongs to the epsin family.
genes like me logo Genes that share domains with EPN2: view

No data available for Gene Families for EPN2 Gene

Function for EPN2 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for EPN2 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in the formation of clathrin-coated invaginations and endocytosis.

Gene Ontology (GO) - Molecular Function for EPN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 18199683
genes like me logo Genes that share ontologies with EPN2: view

Phenotypes for EPN2 Gene

MGI mutant phenotypes for EPN2:
inferred from 1 alleles
GenomeRNAi human phenotypes for EPN2:
genes like me logo Genes that share phenotypes with EPN2: view

Animal Models for EPN2 Gene

MGI Knock Outs for EPN2:

Animal Model Products

miRNA for EPN2 Gene

miRTarBase miRNAs that target EPN2

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EPN2 Gene

Localization for EPN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EPN2 Gene

Cytoplasm. Cytoplasmic vesicle, clathrin-coated vesicle. Note=In punctate structures throughout the cell, associated with clathrin-coated vesicles, and particularly concentrated in the region of the Golgi complex.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EPN2 Gene COMPARTMENTS Subcellular localization image for EPN2 gene
Compartment Confidence
golgi apparatus 5
nucleus 5
cytosol 3

Gene Ontology (GO) - Cellular Components for EPN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030128 clathrin coat of endocytic vesicle IEA --
genes like me logo Genes that share ontologies with EPN2: view

Pathways & Interactions for EPN2 Gene

genes like me logo Genes that share pathways with EPN2: view

Pathways by source for EPN2 Gene

1 KEGG pathway for EPN2 Gene
1 R&D Systems pathway for EPN2 Gene

Gene Ontology (GO) - Biological Process for EPN2 Gene

None

No data available for SIGNOR curated interactions for EPN2 Gene

Drugs & Compounds for EPN2 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for EPN2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for EPN2 Gene

(3) REFSEQ mRNAs :
(16) Additional mRNA sequences :
(195) Selected AceView cDNA sequences:
(27) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for EPN2 Gene

Epsin 2:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for EPN2 Gene

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:

Relevant External Links for EPN2 Gene

GeneLoc Exon Structure for
EPN2
ECgene alternative splicing isoforms for
EPN2

Expression for EPN2 Gene

Products:

  1. Primer

mRNA expression in normal human tissues for EPN2 Gene

mRNA expression in normal human tissues for EPN2 Gene
mRNA expression by BioGPS for EPN2 GenemRNA expression by GTEx for EPN2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EPN2 Gene

This gene is overexpressed in Fetal Brain (13.3), Spinal cord (10.7), Frontal cortex (8.0), and Saliva (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for EPN2 Gene



SOURCE GeneReport for Unigene cluster for EPN2 Gene Hs.743983

mRNA Expression by UniProt/SwissProt for EPN2 Gene

O95208-EPN2_HUMAN
Tissue specificity: Highest expression is found in brain. Detected at lower levels in lung and liver.
genes like me logo Genes that share expression patterns with EPN2: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for EPN2 Gene

Orthologs for EPN2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for EPN2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
 Mammalia EPN2 35
  • 85.06 (n)
  • 87.15 (a)
EPN2 36
  • 87 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia EPN2 35
  • 88.65 (n)
  • 91.72 (a)
EPN2 36
  • 92 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Epn2 35
  • 86.75 (n)
  • 89.75 (a)
Epn2 16
Epn2 36
  • 89 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia EPN2 35
  • 99.17 (n)
  • 99.69 (a)
EPN2 36
  • 100 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Epn2 35
  • 86.7 (n)
  • 89.91 (a)
oppossum
(Monodelphis domestica)
 Mammalia EPN2 36
  • 77 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia EPN2 36
  • 79 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia EPN2 36
  • 75 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia Str.5290 35
zebrafish
(Danio rerio)
 Actinopterygii epn2 36
  • 62 (a)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta lqf 36
  • 30 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea T04C10.2a 37
  • 37 (a)
T04C10.2b 37
  • 37 (a)
epn-1 36
  • 45 (a)
 OneToMany
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes ENT3 36
  • 27 (a)
 OneToMany
ENT3 38
sea squirt
(Ciona savignyi)
 Ascidiacea -- 36
  • 42 (a)
 OneToMany
Species with no ortholog for EPN2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EPN2 Gene

ENSEMBL:
Gene Tree for EPN2 (if available)
TreeFam:
Gene Tree for EPN2 (if available)

Paralogs for EPN2 Gene

Paralogs for EPN2 Gene

(2) SIMAP similar genes for EPN2 Gene using alignment to 16 proteins:

Pseudogenes.org Pseudogenes for EPN2 Gene

genes like me logo Genes that share paralogs with EPN2: view

Variants for EPN2 Gene

Sequence variations from dbSNP and Humsavar for EPN2 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1062727 -, - 19,332,035(+) CCCCA(A/C)CAGCC reference, missense
rs6587220 - 19,328,765(+) CACCG(C/G/T)ACAAT reference, missense
rs950953 -- 19,252,466(+) AGCTT(C/T)AACAG intron-variant
rs950954 -- 19,252,535(+) ATTGG(A/C)AAATG intron-variant
rs959071 -- 19,238,913(-) TCTTC(A/G)TTATA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EPN2 Gene

Variant ID Type Subtype PubMed ID
nsv9504 CNV Gain+Loss 18304495
nsv833391 CNV Loss 17160897
esv33572 CNV Gain 17666407
nsv428336 CNV Gain+Loss 18775914
dgv933e1 CNV Complex 17122850
esv25927 CNV Gain+Loss 19812545
nsv2001 CNV Loss 18451855
dgv3095n71 CNV Gain 21882294
nsv833393 CNV Gain+Loss 17160897
esv2665186 CNV Deletion 23128226
esv2715728 CNV Deletion 23290073
esv2715730 CNV Deletion 23290073
esv271226 CNV Insertion 20981092

Variation tolerance for EPN2 Gene

Residual Variation Intolerance Score: 9.76% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.95; 36.19% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for EPN2 Gene

Disorders for EPN2 Gene

Relevant External Links for EPN2

Genetic Association Database (GAD)
EPN2
Human Genome Epidemiology (HuGE) Navigator
EPN2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EPN2

No disorders were found for EPN2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EPN2 Gene

Publications for EPN2 Gene

  1. The epsins define a family of proteins that interact with components of the clathrin coat and contain a new protein module. (PMID: 10567358) Rosenthal J.A. … De Camilli P. (J. Biol. Chem. 1999) 2 3 4 23 67
  2. Epsin is required for Dishevelled stability and Wnt signalling activation in colon cancer development. (PMID: 25871009) Chang B. … Chen H. (Nat Commun 2015) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  5. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta G.D. … Pelletier L. (Cell 2015) 3

Products for EPN2 Gene

  • Addgene plasmids for EPN2

Sources for EPN2 Gene

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