Aliases for EPS15 Gene
Aliases for EPS15 Gene
External Ids for EPS15 Gene
- HGNC: 3419
- Entrez Gene: 2060
- Ensembl: ENSG00000085832
- OMIM: 600051
- UniProtKB: P42566
Previous GeneCards Identifiers for EPS15 Gene
- GC01M050709
- GC01M051179
- GC01M051190
- GC01M051532
- GC01M051819
- GC01M049937
Summaries for EPS15 Gene
-
This gene encodes a protein that is part of the EGFR pathway. The protein is present at clatherin-coated pits and is involved in receptor-mediated endocytosis of EGF. Notably, this gene is rearranged with the HRX/ALL/MLL gene in acute myelogeneous leukemias. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2009]
GeneCards Summary for EPS15 Gene
EPS15 (Epidermal Growth Factor Receptor Pathway Substrate 15) is a Protein Coding gene. Diseases associated with EPS15 include Vaccinia and Spastic Paraplegia 20, Autosomal Recessive. Among its related pathways are EGF/EGFR Signaling Pathway and wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF). Gene Ontology (GO) annotations related to this gene include calcium ion binding and SH3 domain binding. An important paralog of this gene is EPS15L1.
UniProtKB/Swiss-Prot for EPS15 Gene
-
Involved in cell growth regulation. May be involved in the regulation of mitogenic signals and control of cell proliferation. Involved in the internalization of ligand-inducible receptors of the receptor tyrosine kinase (RTK) type, in particular EGFR. Plays a role in the assembly of clathrin-coated pits (CCPs). Acts as a clathrin adapter required for post-Golgi trafficking. Seems to be involved in CCPs maturation including invagination or budding. Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR); internalization of ITGB1 as DAB2-dependent cargo but not TFR seems to require association with DAB2.
Additional gene information for EPS15 Gene
- Monarch Initiative
- Search for EPS15 at DataMed
- Search for EPS15 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPS15 Gene
Genomics for EPS15 Gene
GeneHancer (GH) Regulatory Elements for EPS15 Gene
Promoters and enhancers for EPS15 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around EPS15 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the EPS15 gene promoter:
-
- AP-2alphaA
- AP-2alpha isoform 4
- AP-2alpha isoform 3
- AP-2alpha isoform 2
- AP-2alpha
- AP-1
- c-Jun
- ATF-2
- E2F
- E2F-1
Regulatory Element Products
Genomic Locations for EPS15 Gene
Genomic Locations for EPS15 Gene
- chr1:51,354,263-51,519,354
- (GRCh38/hg38)
- Size:
- 165,092 bases
- Orientation:
- Minus strand
- chr1:51,819,935-51,985,000
- (GRCh37/hg19)
- Size:
- 165,066 bases
- Orientation:
- Minus strand
Genomic View for EPS15 Gene
Genes around EPS15 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1p32.3 by Entrez Gene
- 1p32.3 by HGNC
- 1p32.3 by Ensembl
EPS15 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 EPS15 Gene
Proteins for EPS15 Gene
-
Protein details for EPS15 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P42566-EPS15_HUMAN
- Recommended name:
- Epidermal growth factor receptor substrate 15
- Protein Accession:
- P42566
- B2R8J7
- D3DPJ2
- Q5SRH4
Protein attributes for EPS15 Gene
- Size:
- 896 amino acids
- Molecular mass:
- 98656 Da
- Quaternary structure:
-
- Interacts with SGIP1 (PubMed:26822536). Interacts with HGS; the interaction bridges the interaction of STAM or STAM2 with EPS15. Isoform 2 interacts with HGS and AP2A2. Part of a complex at least composed of EPS15, HGS, and either STAM or STAM2. Binds AP2A2. Interacts with AP2B1; clathrin competes with EPS15. Binds STON2 and EPN1. Interacts (via its SH3-binding sites) with CRK. Interacts with SH3BP4/TTP. Interacts with ERBB2. Interacts with FCHO1. Interacts with FCHO2. Interacts (via EH domains) with DAB2. Interacts (via UIM repeats) with CORO7 (when ubiquitinated at Lys-472). Interacts (via UIM domains) with UBQLN1 (via ubiquitin-like domain) and can interact with both the ubiquitinated and the non-ubiquitinated forms of UBQLN1. Interacts with UBQLN2 (By similarity) (PubMed:10757979, PubMed:11062555, PubMed:12551915, PubMed:16159959, PubMed:16314522, PubMed:16325581, PubMed:16903783, PubMed:18199683, PubMed:18200045, PubMed:18362181, PubMed:20448150, PubMed:21762413, PubMed:22484487, PubMed:22648170, PubMed:24768539, PubMed:8662907, PubMed:9721102, PubMed:9723620). Interacts with vaccinia virus protein A36 (PubMed:27670116).
- (Microbial infection) Interacts with vaccinia virus protein A36 (PubMed:27670116).
Three dimensional structures from OCA and Proteopedia for EPS15 Gene
Protein Expression for EPS15 Gene
Post-translational modifications for EPS15 Gene
- Phosphorylation on Tyr-849 is involved in the internalization of EGFR. Not required for membrane translocation after EGF treatment or for targeting to coated pits, but essential for a subsequent step in EGFR endocytosis (By similarity). Phosphorylated on serine upon DNA damage, probably by ATM or ATR.
- Ubiquitinated.
- Ubiquitination at isoforms=2890, Lys860, Lys818, Lys801, isoforms=2754, Lys638, isoforms=2495, and Lys413
- Modification sites at PhosphoSitePlus
Other Protein References for EPS15 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for EPS15 (Eps15)
-
Custom Antibody ServicesOriGene Antibodies for EPS15
- Novus Biologicals Antibodies for EPS15
- Invitrogen Antibodies for EPS15
- GeneTex EPS15 Antibody for EPS15
-
Santa Cruz Biotechnology (SCBT) Antibodies for EPS15
Protein Products
-
OriGene Purified Proteins for EPS15
- Search Origene for MassSpec and Protein Over-expression Lysates for EPS15
- Origene Custom Protein Services for EPS15
- Search GeneTex for Proteins for EPS15
Assay Products
No data available for DME Specific Peptides for EPS15 Gene
Domains & Families for EPS15 Gene
Gene Families for EPS15 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Plasma proteins
- Predicted secreted proteins
Protein Domains for EPS15 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for EPS15 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P42566UniProtKB/Swiss-Prot:
EPS15_HUMAN :- The EH domain interacts with Asn-Pro-Phe (NPF) motifs of target proteins.
- Domain:
-
- The EH domain interacts with Asn-Pro-Phe (NPF) motifs of target proteins.
- The UIM (ubiquitin-interacting motif) repeats specifically bind Lys-33-linked ubiquitin.
Function for EPS15 Gene
Molecular function for EPS15 Gene
- UniProtKB/Swiss-Prot Function:
- Involved in cell growth regulation. May be involved in the regulation of mitogenic signals and control of cell proliferation. Involved in the internalization of ligand-inducible receptors of the receptor tyrosine kinase (RTK) type, in particular EGFR. Plays a role in the assembly of clathrin-coated pits (CCPs). Acts as a clathrin adapter required for post-Golgi trafficking. Seems to be involved in CCPs maturation including invagination or budding. Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR); internalization of ITGB1 as DAB2-dependent cargo but not TFR seems to require association with DAB2.
- GENATLAS Biochemistry:
- EGFR pathway substrate,mouse eps15 homolog,likely involved in cell growth regulation
Phenotypes From GWAS Catalog for EPS15 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005509 | calcium ion binding | IEA | -- |
| GO:0005515 | protein binding | IPI | 9303539 |
| GO:0017124 | SH3 domain binding | IEA | -- |
| GO:0031593 | polyubiquitin modification-dependent protein binding | IDA | 24768539 |
| GO:0042802 | identical protein binding | IEA,IPI | 9182572 |
Phenotypes for EPS15 Gene
- MGI mutant phenotypes for EPS15:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for EPS15:
Animal Models for EPS15 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for EPS15
-
CRISPR Products
-
OriGene CRISPR knockouts for EPS15
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EPS15
- genomics-online: gRNA clones - Search results for 113 available EPS15 gene related products
- Overview of 113 available EPS15 gene related products
- Applied Biological Materials CRISPR for EPS15
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for EPS15
- GenScript: Design CRISPR guide RNA sequences for EPS15
miRNA for EPS15 Gene
- miRTarBase miRNAs that target EPS15
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for EPS15
- Browse OriGene Inhibitory RNA Products For EPS15
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPS15
- genomics-online: shRNA clones - Search results for 113 available EPS15 gene related products
- Overview of 113 available EPS15 gene related products
Clone Products
- Sino Biological Human cDNA Clone for EPS15
- VectorBuilder custom plasmid, inducible vectors for EPS15
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for EPS15
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for EPS15
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EPS15
- Applied Biological Materials Clones for EPS15
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for EPS15
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EPS15 Gene
Localization for EPS15 Gene
Subcellular locations from UniProtKB/Swiss-Prot for EPS15 Gene
- Cytoplasm. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Membrane, clathrin-coated pit. Note=Recruited to the plasma membrane upon EGFR activation and localizes to coated pits. Colocalizes with UBQLN1 in ubiquitin-rich cytoplasmic aggregates that are not endocytic compartments and in cytoplasmic juxtanuclear structures called aggresomes. {ECO:0000269 PubMed:16159959}.
- Isoform 2: Early endosome membrane; Peripheral membrane protein; Cytoplasmic side. Note=Colocalizes with HGS on bilayered clathrin coats on endosomes.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytosol | 5 |
| endosome | 4 |
| nucleus | 3 |
| cytoskeleton | 2 |
| lysosome | 2 |
| golgi apparatus | 1 |
- Cytosol (4)
- Vesicles (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005768 | endosome | IEA | -- |
| GO:0005769 | early endosome | IEA | -- |
| GO:0005829 | cytosol | TAS,IEA | -- |
| GO:0005886 | plasma membrane | IDA | 15465819 |
Pathways & Interactions for EPS15 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Listeria monocytogenes entry into host cells | ||
| 2 | Clathrin-mediated endocytosis | ||
| 3 | HIV Life Cycle |
.45
|
|
| 4 | Vesicle-mediated transport | ||
| 5 | wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF) | ||
Pathways by source for EPS15 Gene
4 BioSystems pathways for EPS15 Gene
13 Reactome pathways for EPS15 Gene
1 KEGG pathway for EPS15 Gene
2 GeneGo (Thomson Reuters) pathways for EPS15 Gene
1 Qiagen pathway for EPS15 Gene
1 Cell Signaling Technology pathway for EPS15 Gene
Interacting Proteins for EPS15 Gene
Selected Interacting proteins:
P42566-EPS15_HUMAN
ENSP00000360798
for EPS15 Gene via
IID
UniProtKB
MINT
STRING
GPS-Prot Interaction Network for EPS15
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001921 | positive regulation of receptor recycling | IEA | -- |
| GO:0006895 | Golgi to endosome transport | IMP | 24768539 |
| GO:0006897 | endocytosis | IEA | -- |
| GO:0007173 | epidermal growth factor receptor signaling pathway | TAS | 8183552 |
| GO:0008283 | cell proliferation | TAS | 8183552 |
Transcripts for EPS15 Gene
mRNA/cDNA for EPS15 Gene
- (9) REFSEQ mRNAs :
- (12) Additional mRNA sequences :
- (287) Selected AceView cDNA sequences:
- (9) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000371727 1773 bps (uc057gli.1)
- ENST00000371730 4736 bps (uc009vyz.2)
- ENST00000371733 5225 bps (uc001csq.2)
- ENST00000464478 698 bps (uc057glj.1)
- ENST00000465467 374 bps (uc057gll.1)
Unigene Clusters for EPS15 Gene
CRISPR Products
-
OriGene CRISPR knockouts for EPS15
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EPS15
- genomics-online: gRNA clones - Search results for 113 available EPS15 gene related products
- Overview of 113 available EPS15 gene related products
- Applied Biological Materials CRISPR for EPS15
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for EPS15
- GenScript: Design CRISPR guide RNA sequences for EPS15
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for EPS15
- Browse OriGene Inhibitory RNA Products For EPS15
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPS15
- genomics-online: shRNA clones - Search results for 113 available EPS15 gene related products
- Overview of 113 available EPS15 gene related products
Clone Products
- Sino Biological Human cDNA Clone for EPS15
- VectorBuilder custom plasmid, inducible vectors for EPS15
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for EPS15
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for EPS15
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EPS15
- Applied Biological Materials Clones for EPS15
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b | ^ | 18a | · | 18b | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: |
| ExUns: | 24 | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28 | ^ | 29 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||
| SP2: | |||||||||||
| SP3: | |||||||||||
| SP4: | |||||||||||
| SP5: |
Expression for EPS15 Gene
This gene is overexpressed in Peripheral blood mononuclear cells (26.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EPS15 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of EPS15 Gene:
EPS15SOURCE GeneReport for Unigene cluster for EPS15 Gene:
Hs.83722mRNA Expression by UniProt/SwissProt for EPS15 Gene:
P42566-EPS15_HUMAN
Tissue specificity:
Ubiquitously expressed.
Evidence on tissue expression from TISSUES for EPS15 Gene
- Blood(4.4)
- Liver(4.4)
- Nervous system(4.4)
- Kidney(2.4)
- Heart(2.1)
- Muscle(2.1)
Primer Products
-
OriGene qPCR primer pairs for EPS15
- genomics-online: primer clones - Search results for 113 available EPS15 gene related products
- Overview of 113 available EPS15 gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for EPS15 Gene
Orthologs for EPS15 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | EPS15 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | EPS15 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | EPS15 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Eps15 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Eps15 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | EPS15 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | EPS15 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | EPS15 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | EPS15 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | eps15 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | eps15 34 33 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | Eps-15 34 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | ehs-1 34 |
|
OneToMany | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | EDE1 36 34 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany |
- Species where no ortholog for EPS15 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 EPS15 Gene
- ENSEMBL:
- Gene Tree for EPS15 (if available)
- TreeFam:
- Gene Tree for EPS15 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for EPS15: view image
Paralogs for EPS15 Gene
Variants for EPS15 Gene
| SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000030446 | -- | 51,366,182(-) | C/A | intron_variant | |
| rs1000048607 | -- | 51,390,386(-) | A/G | intron_variant | |
| rs1000074831 | -- | 51,512,423(-) | AAGAGAA/AA | genic_upstream_transcript_variant, intron_variant | |
| rs1000084386 | -- | 51,437,223(-) | A/G | genic_upstream_transcript_variant, intron_variant | |
| rs1000092260 | -- | 51,366,405(-) | A/G | intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv478230 | CNV | novel sequence insertion | 20440878 |
| nsv1077820 | CNV | deletion | 25765185 |
| esv3586036 | CNV | loss | 21293372 |
| esv3586035 | CNV | loss | 21293372 |
| esv3577855 | CNV | loss | 25503493 |
| esv3577854 | CNV | loss | 25503493 |
| esv3422673 | CNV | insertion | 20981092 |
| esv3367601 | CNV | duplication | 20981092 |
| esv3363534 | CNV | insertion | 20981092 |
| esv3308869 | CNV | mobile element insertion | 20981092 |
| esv3307818 | CNV | mobile element insertion | 20981092 |
| esv2659806 | CNV | deletion | 23128226 |
| esv25434 | CNV | loss | 19812545 |
Residual Variation Intolerance Score:
43.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
9.45;
88.65% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for EPS15 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPS15 Gene
Disorders for EPS15 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| vaccinia |
|
|
| spastic paraplegia 20, autosomal recessive |
|
|
Search EPS15 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
EPS15_HUMAN- Note=A chromosomal aberration involving EPS15 is found in acute leukemias. Translocation t(1;11)(p32;q23) with KMT2A/MLL1. The result is a rogue activator protein.
Additional Disease Information for EPS15
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for EPS15 Gene
Publications for EPS15 Gene
- The human eps15 gene, encoding a tyrosine kinase substrate, is conserved in evolution and maps to 1p31-p32. (PMID: 8183552) Wong WT … Di Fiore PP (Oncogene 1994) 2 3 4 22 58
- An endosomally localized isoform of Eps15 interacts with Hrs to mediate degradation of epidermal growth factor receptor. (PMID: 18362181) Roxrud I … Stenmark H (The Journal of cell biology 2008) 3 4 22 58
- STAM and Hrs are subunits of a multivalent ubiquitin-binding complex on early endosomes. (PMID: 12551915) Bache KG … Stenmark H (The Journal of biological chemistry 2003) 3 4 22 58
- Solution structure of Eps15's third EH domain reveals coincident Phe-Trp and Asn-Pro-Phe binding sites. (PMID: 10757979) Enmon JL … Overduin M (Biochemistry 2000) 3 4 22 58
- Molecular mechanism of NPF recognition by EH domains. (PMID: 11062555) de Beer T … Overduin M (Nature structural biology 2000) 3 4 22 58
Products for EPS15 Gene
- R&D Systems Antibodies for EPS15 (Eps15)
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- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for EPS15
- Sino Biological Human cDNA Clone for EPS15
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for EPS15
- Novus Biologicals proteins and lysates for EPS15
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- VectorBuilder custom plasmid, inducible vectors for EPS15
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for EPS15
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for EPS15
- antibodies-online: Search results for 80 available EPS15 Antibodies ranked by validation data
- Compare Top EPS15 Antibodies
- antibodies-online: Search results for 2 available EPS15 Elisa Kits ranked by validation data
- Compare Top EPS15 Elisa Kits
- Recommended
- antibodies-online: Search results for 3 available EPS15 Proteins ranked by validation data
- Compare Top EPS15 Proteins
- GeneTex EPS15 Antibody for EPS15
- Search GeneTex for Proteins for EPS15
- Santa Cruz Biotechnology (SCBT) Antibodies for EPS15
- Search Santa Cruz Biotechnology (SCBT) for EPS15 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for EPS15
- Horizon Cell Lines for EPS15
- genomics-online: cdna clones - Search results for 113 available EPS15 gene related products
- Overview of 113 available EPS15 gene related products
- orf clones - Search results for 113 available EPS15 gene related products
- Overview of 113 available EPS15 gene related products
- genomics-online: gRNA clones - Search results for 113 available EPS15 gene related products
- Overview of 113 available EPS15 gene related products
- genomics-online: primer clones - Search results for 113 available EPS15 gene related products
- Overview of 113 available EPS15 gene related products
- genomics-online: shRNA clones - Search results for 113 available EPS15 gene related products
- Overview of 113 available EPS15 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EPS15
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EPS15
- GeneCopoeia miRNA 3'UTR Target clone products for EPS15
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPS15
Sources for EPS15 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt