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EPN2 Gene(Protein Coding)

Epsin 2

GCID:
GC17P019215
GIFtS:
48
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
  • Epsin-2 3
  • 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 PAK Pathway and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include lipid binding and phospholipid binding. An important paralog of this gene is EPN1.

UniProtKB/Swiss-Prot for EPN2 Gene

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

Gene Wiki entry for EPN2 Gene

Additional gene information for EPN2 Gene

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

Genomics for EPN2 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for EPN2 Gene

Promoters and enhancers for EPN2 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
GH17I019236 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 553.2 +22.2 22243 2.2 RB1 SIN3A ZNF335 GLIS2 EGR1 SCRT2 ZNF143 EGR2 SMARCA5 SP3 EPN2 LOC102724624 ENSG00000262319 MIR1180 ENSG00000230197 RNF112 LOC388436 EPN2-IT1
GH17I019215 Promoter 0.5 Ensembl 550.8 -0.2 -214 0.8 EPN2 KYNUP3
GH17I019361 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 33.8 +146.9 146857 2.3 CLOCK ARID4B SIN3A DMAP1 ZNF2 ZBTB7B IRF4 YY1 SLC30A9 POLR2B LOC105371573 B9D1 EPN2 MFAP4 SLC47A1 FAM83G TVP23B ENSG00000252349 ENSG00000262202 LOC102724624
GH17I019336 Enhancer 1.3 Ensembl ENCODE dbSUPER 37.2 +122.5 122542 3.4 FOXA2 MLX ZFP64 ARID4B DMAP1 ZNF48 ETS1 YY1 ZNF143 ATF7 EPN2 ENSG00000262319 ENSG00000262292 MAPK7 B9D1 MFAP4 ENSG00000252349 ENSG00000265263 PIR55134
GH17I019376 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 17.3 +162.6 162604 3.7 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 POLR2B MAPK7 B9D1 ENSG00000262202 EPN2 AKAP10 FOXO3B FAM106A ENSG00000235979 ENSG00000230197 MFAP4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EPN2 on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for EPN2 Gene

Genomic Locations for EPN2 Gene
chr17:19,215,615-19,336,715
(GRCh38/hg38)
Size:
121,101 bases
Orientation:
Plus strand
chr17:19,118,928-19,240,028
(GRCh37/hg19)

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

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

Gene Families for EPN2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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.
Family:
  • Belongs to the epsin family.
genes like me logo Genes that share domains with EPN2: view

Function for EPN2 Gene

Products:

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

Molecular function for EPN2 Gene

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

Phenotypes From GWAS Catalog for EPN2 Gene

Gene Ontology (GO) - Molecular Function for EPN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 18199683
GO:0008289 lipid binding IEA --
GO:0045296 cadherin binding IDA 25468996
genes like me logo Genes that share ontologies with EPN2: view
genes like me logo Genes that share phenotypes with EPN2: view

Animal Models for EPN2 Gene

MGI Knock Outs for EPN2:

Animal Model Products

Clone Products

  • Addgene plasmids for EPN2

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
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 EPN2 gene
Compartment Confidence
cytosol 5
nucleus 4
golgi apparatus 2

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for EPN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0030128 clathrin coat of endocytic vesicle IEA --
GO:0030136 clathrin-coated vesicle IEA --
GO:0031410 cytoplasmic 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

Gene Ontology (GO) - Biological Process for EPN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis IEA --
GO:0061024 membrane organization TAS --
genes like me logo Genes that share ontologies with EPN2: view

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

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:

Clone Products

  • Addgene plasmids for EPN2

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



NURSA nuclear receptor signaling pathways regulating expression of EPN2 Gene:

EPN2

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.

Evidence on tissue expression from TISSUES for EPN2 Gene

  • Nervous system(4.9)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with EPN2: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
 Mammalia EPN2 33 34
  • 99.17 (n)
dog
(Canis familiaris)
 Mammalia EPN2 33 34
  • 88.65 (n)
mouse
(Mus musculus)
 Mammalia Epn2 33 16 34
  • 86.75 (n)
rat
(Rattus norvegicus)
 Mammalia Epn2 33
  • 86.7 (n)
cow
(Bos Taurus)
 Mammalia EPN2 33 34
  • 85.06 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia EPN2 34
  • 79 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia EPN2 34
  • 77 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia EPN2 34
  • 75 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia Str.5290 33
zebrafish
(Danio rerio)
 Actinopterygii epn2 34
  • 62 (a)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta lqf 34
  • 30 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea epn-1 34
  • 45 (a)
 OneToMany
T04C10.2a 35
  • 37 (a)
T04C10.2b 35
  • 37 (a)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes ENT3 34 36
  • 27 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 42 (a)
 OneToMany
Species where no ortholog for EPN2 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)
  • 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 Variation AA Info Type
rs1000002424 -- 19,239,469(+) T/A intron_variant
rs1000108619 -- 19,277,077(+) G/A intron_variant
rs1000110679 -- 19,236,920(+) C/A upstream_transcript_variant
rs1000111881 -- 19,290,176(+) C/T intron_variant
rs1000123211 -- 19,289,782(+) A/G intron_variant

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

Variant ID Type Subtype PubMed ID
dgv895e212 CNV loss 25503493
esv25927 CNV gain+loss 19812545
esv2665186 CNV deletion 23128226
esv2758678 CNV gain+loss 17122850
esv33572 CNV gain 17666407
esv3414207 CNV insertion 20981092
esv3582561 CNV loss 25503493
nsv1061317 CNV gain 25217958
nsv1127544 CNV deletion 24896259
nsv1134608 CNV deletion 24896259
nsv2001 CNV deletion 18451855
nsv428336 CNV gain+loss 18775914
nsv833391 CNV loss 17160897
nsv833393 CNV gain+loss 17160897
nsv9504 CNV gain+loss 18304495
nsv953844 CNV deletion 24416366

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)

Additional Variant Information for EPN2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EPN2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPN2 Gene

Disorders for EPN2 Gene

Additional Disease Information for EPN2

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

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 JA … De Camilli P (The Journal of biological chemistry 1999) 2 3 4 22 58
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  3. The ubiquitin-like protein PLIC-2 is a negative regulator of G protein-coupled receptor endocytosis. (PMID: 18199683) N'Diaye EN … Brown EJ (Molecular biology of the cell 2008) 3 4 58
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for EPN2 Gene

  • Addgene plasmids for EPN2

Sources for EPN2 Gene

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