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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 transc... See more...
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. Diseases associated with EPN2 include Schwartz-Jampel Syndrome, Type 1. Among its related pathways are Clathrin-mediated endocytosis and Notch Signaling Pathway (WikiPathways). 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 Summary for EPN2 Gene
-
Plays a role in the formation of clathrin-coated invaginations and endocytosis.
Additional gene information for EPN2 Gene
- HGNC(18639)
- Entrez Gene(22905)
- Ensembl(ENSG00000072134)
- OMIM(607263)
- UniProtKB(O95208)
- Open Targets Platform(ENSG00000072134)
- Monarch Initiative
- Search for EPN2 at DataMed
- Search for EPN2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EPN2 Gene
Genomics for EPN2 Gene
GeneHancer (GH) Regulatory Elements Pubs
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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EPN2
- Top Transcription factor binding sites by QIAGEN in the EPN2 gene promoter:
-
- Bach2
- CP2
- E47
- Egr-1
- Egr-2
- Egr-4
- Hand1
- N-Myc
- Sp1
- STAT3
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 HGNC
- 17p11.2 by Entrez Gene
- 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=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAG52540.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305};
Protein Expression for EPN2 Gene
Post-translational modifications for EPN2 Gene
- Ubiquitinated.
-
Ubiquitination at Lys11 and Lys107
- NX_O95208 (NX_O95208-1)
- Modification sites at PhosphoSitePlus
Other Protein References for EPN2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences EPN2 Antibody
-
Custom Antibody ServicesOriGene Antibodies for EPN2
- Novus Biologicals Antibodies for EPN2
- Invitrogen Antibodies for EPN2 (AFLGC-EPN2)
-
Santa Cruz Biotechnology (SCBT) Antibodies for EPN2
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for EPN2
- Origene Custom Protein Services for EPN2
-
Abcam proteins for EPN2
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:
-
- Epsin N-terminal homology
- Ubiquitin interacting motif
- Epsin-like, N-terminal
- ProtoNet:
Suggested Antigen Peptide Sequences for EPN2 Gene
- GenScript: Design optimal peptide antigens:
-
- EPS-15-interacting protein 2 (EPN2_HUMAN)
- cDNA FLJ11134 fis, clone PLACE1006385, highly similar to Homo sapiens epsin 2 (EPN2), transcript variant 1, mRNA (Q52LD0_HUMAN)
- EPN2 protein (Q6NSL9_HUMAN)
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:0005543 | phospholipid binding | IBA | 21873635 |
| GO:0008289 | lipid binding | IEA | -- |
| GO:0030276 | clathrin binding | IBA | 21873635 |
| GO:0045296 | cadherin binding | HDA | 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
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for EPN2 - Select products 50% OFF >
- * EPN2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for EPN2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EPN2
-
Santa Cruz Biotechnology (SCBT) CRISPR for EPN2
miRNA for EPN2 Gene
- miRTarBase miRNAs that target EPN2
-
- mmu-miR-340-5p (MIRT010299)
- 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
Clone Products
- Applied Biological Materials (abm): Clones for EPN2 - Select products 50% OFF >
- * EPN2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG209265
- MR209265
- MR209265L3
- MR209265L4
- MR230588
- MR230760
- RC210899
- RC210899L3
- RC210899L4
- RC213652
- RC213652L3
- RC213652L4
- RC216676
- RC216676L3
- RC216676L4
- RG210899
- RG213652
- RG216676
- RR200322
- RR200322L3
- RR200322L4
- RR200323
- RR200323L3
- RR200323L4
- MR209265L3V
- MR209265L4V
- RC210899L3V
- RC210899L4V
- RC213652L3V
- RC213652L4V
- RC216676L3V
- RC216676L4V
- RR200322L3V
- RR200322L4V
- RR200323L3V
- RR200323L4V
- 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
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 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
- Vesicles (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005768 | endosome | IBA | 21873635 |
| GO:0005829 | cytosol | TAS | -- |
| GO:0005886 | plasma membrane | IBA | 21873635 |
| GO:0030125 | clathrin vesicle coat | IBA | 21873635 |
Pathways & Interactions for EPN2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Sertoli-Sertoli Cell Junction Dynamics |
Germ Cell-Sertoli Cell Junction Dynamics
.38
|
Sertoli-Sertoli Cell Junction Dynamics
.38
|
| 2 | Clathrin-mediated endocytosis | ||
| 3 | Vesicle-mediated transport | ||
| 4 | Endocytosis | ||
| 5 | Notch Signaling Pathway (WikiPathways) | ||
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
- Endocytic Trafficking of EGFR
- Epithelial Adherens Junctions
- Germ Cell-Sertoli Cell Junction Dynamics
- Sertoli-Sertoli Cell Junction Dynamics
Interacting Proteins for EPN2 Gene
Selected Interacting proteins:
O95208-EPN2_HUMAN
ENSP00000320543
for EPN2 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for EPN2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006897 | endocytosis | IEA,IBA | 21873635 |
| 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 :
- 19 NCBI additional mRNA sequence :
- 27 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000314728 4871 nts (view in UCSC)
- ENST00000347697 4664 nts (view in UCSC)
- ENST00000395618 2216 nts (view in UCSC)
- ENST00000395620 3860 nts (view in UCSC)
- ENST00000395626 2863 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for EPN2 - Select products 50% OFF >
- * EPN2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for EPN2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EPN2
-
Santa Cruz Biotechnology (SCBT) CRISPR 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
Clone Products
- Applied Biological Materials (abm): Clones for EPN2 - Select products 50% OFF >
- * EPN2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG209265
- MR209265
- MR209265L3
- MR209265L4
- MR230588
- MR230760
- RC210899
- RC210899L3
- RC210899L4
- RC213652
- RC213652L3
- RC213652L4
- RC216676
- RC216676L3
- RC216676L4
- RG210899
- RG213652
- RG216676
- RR200322
- RR200322L3
- RR200322L4
- RR200323
- RR200323L3
- RR200323L4
- MR209265L3V
- MR209265L4V
- RC210899L3V
- RC210899L4V
- RC213652L3V
- RC213652L4V
- RC216676L3V
- RC216676L4V
- RR200322L3V
- RR200322L4V
- RR200323L3V
- RR200323L4V
- 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
| 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
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EPN2
SOURCE 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(4.3)
- Skin(2.3)
- Heart(2.1)
Primer Products
-
OriGene qPCR primer pairs for EPN2
-
OriGene qPCR primer pairs and template standards for EPN2
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 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | EPN2 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Epn2 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Epn2 30 |
|
||
| Cow (Bos Taurus) |
Mammalia | EPN2 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | EPN2 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | EPN2 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | EPN2 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | Str.5290 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | epn2 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | lqf 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | epn-1 31 |
|
OneToMany | |
| T04C10.2a 32 |
|
|
|||
| T04C10.2b 32 |
|
|
|||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ENT3 31 33 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for EPN2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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
| 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
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| schwartz-jampel syndrome, type 1 |
|
|
Search EPN2 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for EPN2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for 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 23
- 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 41
- 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
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
ExternalLinks
Products for EPN2 Gene
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Sources for EPN2 Gene
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