Aliases for EPN3 Gene

Aliases for EPN3 Gene

  • Epsin 3 2 3 5
  • EPS-15-Interacting Protein 3 3 4
  • Epsin-3 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 Notch Signaling Pathway (WikiPathways) and Endocytosis. Gene Ontology (GO) annotations related to this gene include lipid binding and EH domain binding. An important paralog of this gene is EPN2.

Additional gene information for EPN3 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EPN3 Gene

Genomics for EPN3 Gene

GeneHancer (GH) Regulatory Elements for EPN3 Gene

Promoters and enhancers for EPN3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J050532 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas dbSUPER 525.9 +1.3 1284 3.9 ZNF217 CTCF ZFX ZIC2 ZBTB10 CLOCK ZBTB26 SAP30 CUX1 CHD1 EPN3 lnc-MYCBPAP-2 SPATA20 CACNA1G-AS1 MYCBPAP CACNA1G ENSG00000250286 LOC105371824
GH17J050531 Promoter/Enhancer 0.5 Ensembl dbSUPER 524.8 -1.4 -1381 0.2 EPN3 lnc-MYCBPAP-2 ENSG00000250286 MYCBPAP
GH17J050507 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 24.7 -22.8 -22827 5.3 SIN3A SP1 PHF8 JUND CTCF POLR2A RFX1 RELA MXI1 ZNF341 MYCBPAP ENSG00000249451 EPN3 RSAD1 ACSF2 ENSG00000250286 SPATA20 CACNA1G CACNA1G-AS1 CHAD
GH17J050683 Promoter/Enhancer 1.9 Ensembl ENCODE CraniofacialAtlas dbSUPER 15.6 +158.0 158008 14.2 EP300 FOXK2 ZNF217 CTCF ZSCAN5C TCF12 POLR2G NCOR1 JUND FOS HSALNG0117331 MBTD1 ENSG00000262837 LUC7L3 ABCC3 ANKRD40 EPN3 FLJ45513 COL1A1 LOC101927253
GH17J050539 Promoter/Enhancer 2.2 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.5 +9.7 9728 5.6 EP300 FOXK2 HNRNPK CTCF NRF1 TCF12 USF1 POLR2G PHF8 ZIC2 SPATA20 ENSG00000262837 MBTD1 FLJ45513 ENSG00000250286 EPN3 COL1A1 TAC4 RSAD1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EPN3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EPN3

Top Transcription factor binding sites by QIAGEN in the EPN3 gene promoter:
  • AREB6
  • ARP-1
  • ER-alpha
  • Ik-1
  • IRF-7A
  • p53
  • Pax-5
  • PPAR-alpha
  • SRF
  • STAT1beta

Genomic Locations for EPN3 Gene

Genomic Locations for EPN3 Gene
chr17:50,532,682-50,543,750
(GRCh38/hg38)
Size:
11,069 bases
Orientation:
Plus strand
chr17:48,609,904-48,621,111
(GRCh37/hg19)
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
    Miscellaneous:
    • [Isoform 2]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    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

Gene Families for EPN3 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for EPN3 Gene

Blocks:
  • Ubiquitin interacting motif
  • Epsin N-terminal homology
  • Epsin-like, N-terminal
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for EPN3 Gene

GenScript: Design optimal peptide antigens:
  • EPN3 protein (A4QMU9_HUMAN)
  • cDNA FLJ54001, highly similar to Epsin-3 (B4DIQ9_HUMAN)
  • EPS-15-interacting protein 3 (EPN3_HUMAN)

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

Function for EPN3 Gene

Molecular function for EPN3 Gene

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

Phenotypes From GWAS Catalog for EPN3 Gene

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:
  • Epn3 Epn3<tm1.1Pdc>
  • Epn3 Epn3<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

miRNA for EPN3 Gene

miRTarBase miRNAs that target EPN3

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
nucleus 5
cytosol 3
extracellular 1
cytoskeleton 1
mitochondrion 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EPN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 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

PathCards logo

SuperPathways for EPN3 Gene

SuperPathway Contained pathways
1 Sertoli-Sertoli Cell Junction Dynamics
.38
.38
2 Endocytosis
3 Notch Signaling Pathway (WikiPathways)
4 Endocytic Trafficking of EGFR
.41
5 PAK Pathway
.36
genes like me logo Genes that share pathways with EPN3: view

Pathways by source for EPN3 Gene

1 KEGG pathway for EPN3 Gene
1 R&D Systems pathway for EPN3 Gene
4 Qiagen pathways for EPN3 Gene
  • Endocytic Trafficking of EGFR
  • Epithelial Adherens Junctions
  • Germ Cell-Sertoli Cell Junction Dynamics
  • Sertoli-Sertoli Cell Junction Dynamics

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

mRNA/cDNA for EPN3 Gene

1 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR 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

Expression for EPN3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for EPN3 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

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 30
  • 96.51 (n)
dog
(Canis familiaris)
Mammalia EPN3 31 30
  • 89.74 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Epn3 17 31 30
  • 85.66 (n)
rat
(Rattus norvegicus)
Mammalia Epn3 30
  • 84.23 (n)
cow
(Bos Taurus)
Mammalia EPN3 31 30
  • 83.98 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EPN3 31
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EPN3 31
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves EPN3 31 30
  • 70.22 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EPN3 31
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia epn3 30
  • 54.65 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC571453 30
  • 63.35 (n)
EPN3 (1 of 2) 31
  • 53 (a)
OneToMany
EPN3 (2 of 2) 31
  • 46 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta lqf 31 32
  • 28 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea epn-1 31
  • 40 (a)
OneToMany
T04C10.2a 32
  • 39 (a)
T04C10.2b 32
  • 39 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ENT3 31
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for EPN3: view image

Paralogs for EPN3 Gene

Paralogs for EPN3 Gene

(2) SIMAP similar genes for EPN3 Gene using alignment to 12 proteins:

  • EPN3_HUMAN
  • A4QMU9_HUMAN
  • B4DIQ9_HUMAN
  • D6R907_HUMAN
  • D6RBA4_HUMAN
  • D6RBI9_HUMAN
  • D6RBR6_HUMAN
  • D6REL6_HUMAN
  • D6RF39_HUMAN
  • D6RFG3_HUMAN
  • F6QWW5_HUMAN
  • I6L9I8_HUMAN
genes like me logo Genes that share paralogs with EPN3: view

Variants for EPN3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EPN3 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
715786 Benign: not provided 50,541,664(+) GT/G FRAMESHIFT_VARIANT
rs4794159 - p.Pro544Thr

Additional dbSNP identifiers (rs#s) for EPN3 Gene

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)

Additional Variant Information for EPN3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EPN3

SNP Genotyping and Copy Number Assay Products

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

Disorders for EPN3 Gene

Additional Disease Information for 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 KD … Pilcher BK (The Journal of biological chemistry 2001) 2 3 4 23 54
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. Cloning and initial characterization of human epsin 3, a novel matrix-induced keratinocyte specific transcript (PMID: 10951261) Spradling KD … Pilcher BK (The Journal of investigative dermatology 2000) 2 3 54
  5. The Functional Proximal Proteome of Oncogenic Ras Includes mTORC2. (PMID: 30639242) Kovalski JR … Khavari PA (Molecular cell 2019) 3 54

Products for EPN3 Gene

Sources for EPN3 Gene