Aliases for EPN2 Gene
Aliases for EPN2 Gene
External Ids for EPN2 Gene
- HGNC: 18639
- Entrez Gene: 22905
- Ensembl: ENSG00000072134
- OMIM: 607263
- UniProtKB: O95208
Previous GeneCards Identifiers for EPN2 Gene
- GC17P019198
- GC17P020612
- GC17P019045
- GC17P019302
- GC17P019081
- GC17P019140
- GC17P018522
- GC17P019118
Summaries 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 Endocytic Trafficking of EGFR and Clathrin-mediated endocytosis. 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.
Additional gene information for EPN2 Gene
- Monarch Initiative
- Search for EPN2 at DataMed
- Search for EPN2 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPN2 Gene
Genomics for EPN2 Gene
GeneHancer (GH) Regulatory Elements for EPN2 Gene
Promoters and enhancers for EPN2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around EPN2 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the EPN2 gene promoter:
-
- Egr-4
- Egr-1
- Hand1
- E47
- N-Myc
- Egr-2
- STAT3
- CP2
- Sp1
- Bach2
Regulatory Element Products
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)
- 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:
-
- 17p11.2 by Entrez Gene
- 17p11.2 by HGNC
- 17p11.2 by Ensembl
EPN2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for EPN2 Gene
Proteins for EPN2 Gene
-
Protein details for EPN2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O95208-EPN2_HUMAN
- Recommended name:
- Epsin-2
- Protein Accession:
- O95208
- 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};
Protein Expression for EPN2 Gene
Post-translational modifications for EPN2 Gene
- Ubiquitinated.
- Ubiquitination at Lys107 and Lys11
- Modification sites at PhosphoSitePlus
Other Protein References for EPN2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for EPN2
- Invitrogen Antibodies for EPN2 (AFLGC-EPN2)
- GeneTex EPN2 Antibody for EPN2
-
Boster Bio Antibodies for EPN2
-
Santa Cruz Biotechnology (SCBT) Antibodies for EPN2
Protein Products
-
OriGene Purified Proteins for EPN2
- Search Origene for MassSpec and Protein Over-expression Lysates for EPN2
- Origene Custom Protein Services for EPN2
- Search GeneTex for Proteins for EPN2
-
Abcam proteins for EPN2
Assay Products
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
Graphical View of Domain Structure for InterPro Entry
O95208UniProtKB/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.
Function for EPN2 Gene
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
| 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 |
Phenotypes for EPN2 Gene
- MGI mutant phenotypes for EPN2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for EPN2:
Animal Models for EPN2 Gene
- MGI Knock Outs for EPN2:
-
- Epn2 Epn2<tm1Ocr>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for EPN2
-
CRISPR Products
-
OriGene CRISPR knockouts for EPN2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EPN2
- genomics-online: gRNA clones - Search results for 126 available Epsin 2 gene related products
- Overview of 126 available Epsin 2 gene related products
- Applied Biological Materials CRISPR for EPN2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for EPN2
- GenScript: Design CRISPR guide RNA sequences for EPN2
miRNA for EPN2 Gene
- miRTarBase miRNAs that target EPN2
-
- hsa-mir-335-5p (MIRT018537)
- hsa-mir-615-3p (MIRT040434)
- hsa-mir-129-5p (MIRT647893)
- hsa-mir-1236-3p (MIRT647894)
- hsa-mir-6515-3p (MIRT647895)
- hsa-mir-4282 (MIRT647896)
- hsa-mir-19b-3p (MIRT727758)
- hsa-mir-19a-3p (MIRT727759)
- hsa-mir-1972 (MIRT738670)
- hsa-mir-2278 (MIRT739128)
- hsa-mir-3689d (MIRT742457)
- hsa-mir-3929 (MIRT743068)
- hsa-mir-4419b (MIRT744235)
- hsa-mir-4478 (MIRT745074)
- hsa-mir-4690-5p (MIRT747071)
- hsa-mir-4710 (MIRT747397)
- hsa-mir-4755-3p (MIRT748361)
- hsa-mir-4792 (MIRT748911)
- hsa-mir-6134 (MIRT752421)
- hsa-mir-6851-5p (MIRT757580)
- hsa-mir-7160-5p (MIRT759316)
- hsa-mir-7855-5p (MIRT759946)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for EPN2
- Browse OriGene Inhibitory RNA Products For EPN2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPN2
- genomics-online: shRNA clones - Search results for 126 available Epsin 2 gene related products
- Overview of 126 available Epsin 2 gene related products
Clone Products
-
OriGene ORF clones in human for EPN2
- RC210899
- RC210899L1
- RC210899L2
- RC210899L3
- RC210899L4
- RC213652
- RC213652L1
- RC213652L2
- RC213652L3
- RC213652L4
- RC216676
- RC216676L1
- RC216676L2
- RC216676L3
- RC216676L4
- RC510899
- RG210899
- RG213652
- RG216676
- RC210899L1V
- RC210899L2V
- RC210899L3V
- RC210899L4V
- RC213652L1V
- RC213652L2V
- RC213652L3V
- RC213652L4V
- RC216676L1V
- RC216676L2V
- RC216676L3V
- RC216676L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for EPN2
- Addgene plasmids for EPN2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EPN2
- Applied Biological Materials Clones for EPN2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines 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.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| nucleus | 4 |
| golgi apparatus | 2 |
- Vesicles (3)
| 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 | -- |
Pathways & Interactions for EPN2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Sertoli-Sertoli Cell Junction Dynamics | ||
| 2 | Clathrin-mediated endocytosis | ||
| 3 | Vesicle-mediated transport | ||
| 4 | Endocytosis | ||
| 5 | Notch signaling pathway (KEGG) | ||
Pathways by source for EPN2 Gene
4 Reactome pathways for EPN2 Gene
1 KEGG pathway for EPN2 Gene
1 R&D Systems pathway for EPN2 Gene
4 Qiagen pathways for EPN2 Gene
Interacting Proteins for EPN2 Gene
Selected Interacting proteins:
ENSP00000320543
O95208-EPN2_HUMAN
for EPN2 Gene via
STRING
UniProtKB
IID
GPS-Prot Interaction Network for EPN2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006897 | endocytosis | IEA | -- |
| GO:0030948 | negative regulation of vascular endothelial growth factor receptor signaling pathway | IMP | 28717225 |
| GO:0045747 | positive regulation of Notch signaling pathway | IMP | 28717225 |
| GO:0061024 | membrane organization | TAS | -- |
| GO:1903671 | negative regulation of sprouting angiogenesis | IMP | 28717225 |
No data available for SIGNOR curated interactions for EPN2 Gene
Transcripts for EPN2 Gene
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 :
-
- ENST00000347697 4664 bps (uc002gve.4)
- ENST00000584954 535 bps (uc060cjx.1)
- ENST00000585097 494 bps (uc060cjw.1)
- ENST00000572627 598 bps (uc060cjv.1)
- ENST00000571254 1883 bps (uc010vyp.3)
CRISPR Products
-
OriGene CRISPR knockouts for EPN2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EPN2
- genomics-online: gRNA clones - Search results for 126 available Epsin 2 gene related products
- Overview of 126 available Epsin 2 gene related products
- Applied Biological Materials CRISPR for EPN2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for EPN2
- GenScript: Design CRISPR guide RNA sequences for EPN2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for EPN2
- Browse OriGene Inhibitory RNA Products For EPN2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPN2
- genomics-online: shRNA clones - Search results for 126 available Epsin 2 gene related products
- Overview of 126 available Epsin 2 gene related products
Clone Products
-
OriGene ORF clones in human for EPN2
- RC210899
- RC210899L1
- RC210899L2
- RC210899L3
- RC210899L4
- RC213652
- RC213652L1
- RC213652L2
- RC213652L3
- RC213652L4
- RC216676
- RC216676L1
- RC216676L2
- RC216676L3
- RC216676L4
- RC510899
- RG210899
- RG213652
- RG216676
- RC210899L1V
- RC210899L2V
- RC210899L3V
- RC210899L4V
- RC213652L1V
- RC213652L2V
- RC213652L3V
- RC213652L4V
- RC216676L1V
- RC216676L2V
- RC216676L3V
- RC216676L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for EPN2
- Addgene plasmids for EPN2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EPN2
- Applied Biological Materials Clones for EPN2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
Expression for EPN2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
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 and MOPED for EPN2 Gene
NURSA nuclear receptor signaling pathways regulating expression of EPN2 Gene:
EPN2SOURCE GeneReport for Unigene cluster for EPN2 Gene:
Hs.743983mRNA 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)
Primer Products
-
OriGene qPCR primer pairs for EPN2
-
OriGene qPCR primer pairs and template standards for EPN2
- genomics-online: primer clones - Search results for 126 available Epsin 2 gene related products
- Overview of 126 available Epsin 2 gene related products
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | EPN2 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | EPN2 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Epn2 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Epn2 33 |
|
||
| cow (Bos Taurus) |
Mammalia | EPN2 34 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | EPN2 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | EPN2 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | EPN2 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | Str.5290 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | epn2 34 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | lqf 34 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | epn-1 34 |
|
OneToMany | |
| T04C10.2a 35 |
|
|
|||
| T04C10.2b 35 |
|
|
|||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ENT3 36 34 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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)
- Aminode:
- Evolutionary constrained regions (ECRs) for EPN2: view image
Paralogs for EPN2 Gene
(2) SIMAP similar genes for EPN2 Gene using alignment to 16 proteins:
- EPN2_HUMAN
- E9PBC1_HUMAN
- F6PQP6_HUMAN
- I3L2B2_HUMAN
- I3L2H1_HUMAN
- I3L356_HUMAN
- J3KSA6_HUMAN
- J3KSC7_HUMAN
- J3KSF8_HUMAN
- J3KSR0_HUMAN
- J3KTF6_HUMAN
- J3QKL8_HUMAN
- J3QLN2_HUMAN
- J3QQJ8_HUMAN
- J3QRG9_HUMAN
- Q6NSL9_HUMAN
Pseudogenes.org Pseudogenes for EPN2 Gene
Variants 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 |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
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
- 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
- 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
- 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
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58
- 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
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- Invitrogen Antibodies for EPN2 (AFLGC-EPN2)
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- antibodies-online: Search results for 64 available Epsin 2 Antibodies ranked by validation data
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- GeneTex EPN2 Antibody for EPN2
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- Overview of 126 available Epsin 2 gene related products
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- Overview of 126 available Epsin 2 gene related products
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Sources for EPN2 Gene
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