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Aliases for EPN3 Gene

Aliases for EPN3 Gene

  • Epsin 3 2 3 5
  • EPS-15-Interacting Protein 3 4

External Ids for EPN3 Gene

Previous GeneCards Identifiers for EPN3 Gene

  • GC17P048323
  • GC17P051091
  • GC17P048952
  • GC17P049084
  • GC17P045965
  • GC17P048610
  • GC17P043978

Summaries for EPN3 Gene

GeneCards Summary for EPN3 Gene

EPN3 (Epsin 3) is a Protein Coding gene. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Endocytosis. GO annotations related to this gene include lipid binding and EH domain binding. An important paralog of this gene is ENTHD1.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPN3 Gene

Genomics for EPN3 Gene

Regulatory Elements for EPN3 Gene

Promoters for EPN3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EPN3 on UCSC Golden Path with GeneCards custom track

Genomic Location for EPN3 Gene

Chromosome:
17
Start:
50,532,543 bp from pter
End:
50,543,750 bp from pter
Size:
11,208 bases
Orientation:
Plus strand

Genomic View for EPN3 Gene

Genes around EPN3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EPN3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EPN3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EPN3 Gene

Proteins for EPN3 Gene

  • Protein details for EPN3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H201-EPN3_HUMAN
    Recommended name:
    Epsin-3
    Protein Accession:
    Q9H201
    Secondary Accessions:
    • A8K6J3
    • A8KAB2
    • Q9BVN6
    • Q9NWK2

    Protein attributes for EPN3 Gene

    Size:
    632 amino acids
    Molecular mass:
    68222 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for EPN3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EPN3 Gene

Proteomics data for EPN3 Gene at MOPED

Post-translational modifications for EPN3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for EPN3 Gene

Domains & Families for EPN3 Gene

Suggested Antigen Peptide Sequences for EPN3 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H201

UniProtKB/Swiss-Prot:

EPN3_HUMAN :
  • Contains 1 ENTH (epsin N-terminal homology) domain.
  • Belongs to the epsin family.
Domain:
  • 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 EPN3: view

No data available for Gene Families for EPN3 Gene

Function for EPN3 Gene

Molecular function for EPN3 Gene

UniProtKB/Swiss-Prot Induction:
In keratinocytes, by wounding or contact with collagen.

Gene Ontology (GO) - Molecular Function for EPN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20709745
genes like me logo Genes that share ontologies with EPN3: view
genes like me logo Genes that share phenotypes with EPN3: view

Animal Models for EPN3 Gene

MGI Knock Outs for EPN3:

Animal Model Products

miRNA for EPN3 Gene

miRTarBase miRNAs that target EPN3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EPN3 Gene

Localization for EPN3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EPN3 Gene

Cytoplasm. Cytoplasm, perinuclear region. Cytoplasmic vesicle, clathrin-coated vesicle. Nucleus. Note=Concentrated in the perinuclear region and associated with clathrin-coated vesicles close to the cell periphery. May shuttle to the nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EPN3 Gene COMPARTMENTS Subcellular localization image for EPN3 gene
Compartment Confidence
extracellular 5
nucleus 5
plasma membrane 5
cytosol 3
mitochondrion 1

Gene Ontology (GO) - Cellular Components for EPN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0030136 clathrin-coated vesicle IDA 11359770
GO:0043231 intracellular membrane-bounded organelle IDA --
GO:0048471 perinuclear region of cytoplasm IDA 11359770
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with EPN3: view

Pathways & Interactions for EPN3 Gene

genes like me logo Genes that share pathways with EPN3: view

Pathways by source for EPN3 Gene

Interacting Proteins for EPN3 Gene

Gene Ontology (GO) - Biological Process for EPN3 Gene

None

No data available for SIGNOR curated interactions for EPN3 Gene

Drugs & Compounds for EPN3 Gene

No Compound Related Data Available

Transcripts for EPN3 Gene

Unigene Clusters for EPN3 Gene

Epsin 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EPN3 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3a · 3b · 3c · 3d · 3e ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^
SP1:
SP2:
SP3: - - - - - - -
SP4: - - - - -
SP5: - - - -
SP6: - - - -
SP7: - - - - - -
SP8: - - - - - - -
SP9: -
SP10: - -
SP11: - - - - - - - -
SP12: -

ExUns: 13
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for EPN3 Gene

GeneLoc Exon Structure for
EPN3
ECgene alternative splicing isoforms for
EPN3

Expression for EPN3 Gene

mRNA expression in normal human tissues for EPN3 Gene

mRNA differential expression in normal tissues according to GTEx for EPN3 Gene

This gene is overexpressed in Esophagus - Mucosa (x7.7), Stomach (x7.4), and Skin - Sun Exposed (Lower leg) (x4.4).

Protein differential expression in normal tissues from HIPED for EPN3 Gene

This gene is overexpressed in Urinary Bladder (55.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for EPN3 Gene



SOURCE GeneReport for Unigene cluster for EPN3 Gene Hs.670090

mRNA Expression by UniProt/SwissProt for EPN3 Gene

Q9H201-EPN3_HUMAN
Tissue specificity: Detected in migrating keratinocytes from wounded skin, but not in differentiating keratinocytes or in normal skin. Detected in chronic wounds, basal cell carcinoma and ulcerative colitis.
genes like me logo Genes that share expression patterns with EPN3: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for EPN3 Gene

Orthologs for EPN3 Gene

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

Orthologs for EPN3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia EPN3 35
  • 83.98 (n)
  • 83.19 (a)
EPN3 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EPN3 35
  • 89.74 (n)
  • 91.51 (a)
EPN3 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Epn3 35
  • 85.66 (n)
  • 88.28 (a)
Epn3 16
Epn3 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EPN3 35
  • 96.51 (n)
  • 95.4 (a)
rat
(Rattus norvegicus)
Mammalia Epn3 35
  • 84.23 (n)
  • 87.75 (a)
oppossum
(Monodelphis domestica)
Mammalia EPN3 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EPN3 36
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves EPN3 35
  • 70.22 (n)
  • 67.85 (a)
EPN3 36
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EPN3 36
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia epn3 35
  • 54.65 (n)
  • 52.47 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC571453 35
  • 63.35 (n)
  • 60.54 (a)
EPN3 (1 of 2) 36
  • 53 (a)
OneToMany
EPN3 (2 of 2) 36
  • 46 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta lqf 37
  • 36 (a)
lqf 36
  • 28 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T04C10.2a 37
  • 39 (a)
T04C10.2b 37
  • 39 (a)
epn-1 36
  • 40 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ENT3 36
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 36 (a)
OneToMany
Species with no ortholog for EPN3:
  • 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)
  • 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 EPN3 Gene

ENSEMBL:
Gene Tree for EPN3 (if available)
TreeFam:
Gene Tree for EPN3 (if available)

Paralogs for EPN3 Gene

Paralogs for EPN3 Gene

genes like me logo Genes that share paralogs with EPN3: view

Variants for EPN3 Gene

Sequence variations from dbSNP and Humsavar for EPN3 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs4794159 - 50,541,888(+) GCGAG(A/C)CGGGC reference, missense
rs198531 -- 50,534,645(+) TAGCA(A/G)ACAAA intron-variant
rs936451 -- 50,532,737(+) CTCGG(A/G)GTGCT utr-variant-5-prime
rs1122634 -- 50,544,004(-) GGTGG(A/G)TCAGG downstream-variant-500B
rs755046 -- 50,532,911(+) GTCCC(C/G)CTGCT utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for EPN3 Gene

Variant ID Type Subtype PubMed ID
nsv908600 CNV Gain 21882294
dgv3229n71 CNV Loss 21882294
nsv833477 CNV Loss 17160897
dgv3230n71 CNV Loss 21882294
esv2716034 CNV Deletion 23290073
dgv465e201 CNV Deletion 23290073
esv2716036 CNV Deletion 23290073
nsv908605 CNV Loss 21882294

Variation tolerance for EPN3 Gene

Residual Variation Intolerance Score: 97.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.51; 92.93% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EPN3 Gene

HapMap Linkage Disequilibrium report
EPN3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPN3 Gene

Disorders for EPN3 Gene

Relevant External Links for EPN3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EPN3

No disorders were found for EPN3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EPN3 Gene

Publications for EPN3 Gene

  1. Epsin 3 is a novel extracellular matrix-induced transcript specific to wounded epithelia. (PMID: 11359770) Spradling K.D. … Pilcher B.K. (J. Biol. Chem. 2001) 2 3 4 23 67
  2. Cloning and initial characterization of human epsin 3, a novel matrix-induced keratinocyte specific transcript (PMID: 10951261) Spradling K.D. … Pilcher B.K. (J. Invest. Dermatol. 2000) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. The epsin family of endocytic adaptors promotes fibrosarcoma migration and invasion. (PMID: 20709745) Coon B.G. … Aguilar R.C. (J. Biol. Chem. 2010) 3
  5. Selective high-level expression of epsin 3 in gastric parietal cells, where it is localized at endocytic sites of apical canaliculi. (PMID: 21115825) Ko G. … De Camilli P. (Proc. Natl. Acad. Sci. U.S.A. 2010) 3

Products for EPN3 Gene

Sources for EPN3 Gene

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