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Aliases for EPN3 Gene

Aliases for EPN3 Gene

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

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 Notch signaling pathway (KEGG). GO annotations related to this gene include lipid binding and EH domain binding. An important paralog of this gene is EPN2.

No data available for Entrez Gene Summary , CIViC 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

Enhancers for EPN3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G050532 1.6 Ensembl ENCODE dbSUPER 26 +1.5 1473 3.8 HDGF PKNOX1 AGO1 ARID4B SIN3A FEZF1 ZNF2 ZBTB7B ZNF143 FOS EPN3 SPATA20 CACNA1G-AS1 MYCBPAP CACNA1G LOC105371824
GH17G050507 1.3 Ensembl ENCODE 24.6 -22.5 -22516 5.0 HDGF PKNOX1 CREB3L1 SIN3A FEZF1 ZNF2 ZNF766 ZNF143 ZNF207 FOS MYCBPAP EPN3 RSAD1 ACSF2 LOC105371824 SPATA20 CACNA1G CACNA1G-AS1 CHAD ANKRD40
GH17G050627 1.5 Ensembl ENCODE dbSUPER 17.2 +97.0 97021 3.9 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF48 SLC30A9 GLIS2 SPATA20 EPN3 LOC105371824 CACNA1G CACNA1G-AS1 ANKRD40 MYCBPAP ABCC3 CHAD ACSF2
GH17G050683 1.6 Ensembl ENCODE dbSUPER 15.6 +158.0 158000 13.9 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 ABCC3 ANKRD40 EPN3 LUC7L3 LOC101927253 SPATA20 LOC105371824 CACNA1G-AS1 ENSG00000250976 CACNA1G
GH17G050517 1 ENCODE 24.8 -13.8 -13830 2.8 HDGF PKNOX1 FOXA2 ARID4B DMAP1 ZNF2 ZNF48 SLC30A9 GLIS2 GATA2 SPATA20 EPN3 LOC105371824 CACNA1G CACNA1G-AS1 ACSF2 CHAD LOC101927253 ABCC3 MYCBPAP
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers 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

Post-translational modifications for EPN3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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 :
  • Belongs to the epsin family.
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
GO:0008289 lipid binding IEA --
GO:1990175 EH domain binding IEA --
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

Inhibitory RNA Products

Clone Products

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EPN3 gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 5
cytosol 3
mitochondrion 1

Gene Ontology (GO) - Cellular Components for EPN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 11359770
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005905 clathrin-coated pit IEA --
GO:0019897 extrinsic component of plasma membrane IDA 20709745
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

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:

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for EPN3 Gene



NURSA nuclear receptor signaling pathways regulating expression of EPN3 Gene:

EPN3

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.

Evidence on tissue expression from TISSUES for EPN3 Gene

  • Intestine(4.3)
  • Skin(4.3)
genes like me logo Genes that share expression patterns with EPN3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia EPN3 34
  • 96.51 (n)
dog
(Canis familiaris)
Mammalia EPN3 34 35
  • 89.74 (n)
mouse
(Mus musculus)
Mammalia Epn3 34 16 35
  • 85.66 (n)
rat
(Rattus norvegicus)
Mammalia Epn3 34
  • 84.23 (n)
cow
(Bos Taurus)
Mammalia EPN3 34 35
  • 83.98 (n)
oppossum
(Monodelphis domestica)
Mammalia EPN3 35
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EPN3 35
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves EPN3 34 35
  • 70.22 (n)
lizard
(Anolis carolinensis)
Reptilia EPN3 35
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia epn3 34
  • 54.65 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC571453 34
  • 63.35 (n)
EPN3 (1 of 2) 35
  • 53 (a)
OneToMany
EPN3 (2 of 2) 35
  • 46 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta lqf 36 35
  • 36 (a)
worm
(Caenorhabditis elegans)
Secernentea epn-1 35
  • 40 (a)
OneToMany
T04C10.2a 36
  • 39 (a)
T04C10.2b 36
  • 39 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ENT3 35
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 36 (a)
OneToMany
Species where no ortholog for EPN3 was found in the sources mined by GeneCards:
  • 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
rs1000045732 -- 50,542,894(+) CCTTG(C/T)AGCCG utr-variant-3-prime
rs1000053970 -- 50,543,628(+) AAGAA(C/T)ACCTG utr-variant-3-prime
rs1000111981 -- 50,537,898(+) CTCCA(C/T)CCGGG intron-variant
rs1000403921 -- 50,543,974(+) CAAAC(C/T)TGGGA downstream-variant-500B
rs1000889614 -- 50,542,410(+) CCGGG(G/T)CTCGA utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
dgv424e201 CNV deletion 23290073
esv2716034 CNV deletion 23290073
esv2716036 CNV deletion 23290073
nsv833477 CNV loss 17160897

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 22 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. 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 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for EPN3 Gene

Sources for EPN3 Gene

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