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EPS15 Gene

protein-coding GIFtS: 65
GCID: GC01M051819

Epidermal Growth Factor Receptor Pathway Substrate 15

See EPS15-related disease
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Epidermal Growth Factor Receptor Pathway Substrate 15¹ ²		MLLT5²
Protein AF-1p² ³		ALL1 Fused Gene From Chromosome 1²
AF1P² ³		Epidermal Growth Factor Receptor Substrate 15²
AF-1P²		Protein Eps15³

External Ids:	HGNC: 3419¹	Entrez Gene: 2060²	Ensembl: ENSG00000085832⁷	OMIM: 600051⁵	UniProtKB: P42566³

Export aliases for EPS15 gene to outside databases

Previous GC identifers: GC01M051447 GC01M050709 GC01M051179 GC01M051190 GC01M051532 GC01M049937

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary 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 troyer syndrome. GO annotations related to this gene include SH3 domain binding and calcium ion binding. An important paralog of this gene is REPS1.

UniProtKB/Swiss-Prot: EPS15_HUMAN, P42566

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). 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

Gene Wiki entry for EPS15 Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000001.10 NT_032977.10 NC_018912.2

Regulatory elements:

Regulatory transcription factor binding sites in the EPS15 gene promoter:
AP-1 AP-2alpha isoform 3 ATF-2 AP-2alpha isoform 2 E2F-1 E2F AP-2alpha isoform 4 c-Jun AP-2alpha AP-2alphaA
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: EPS15 promoter sequence

Search Chromatin IP Primers for EPS15

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EPS15

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p32 Ensembl cytogenetic band: 1p32.3 HGNC cytogenetic band: 1p32

EPS15 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EPS15 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M051819: view genomic region (about GC identifiers)

Start:	51,819,935 bp from pter	End:	51,985,000 bp from pter
Size:	165,066 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: EPS15_HUMAN, P42566 (See protein sequence)

Recommended Name: Epidermal growth factor receptor substrate 15

Size: 896 amino acids; 98656 Da

Subunit: Interacts with SGIP1 (By similarity). 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 STAM1 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

Caution: Studies in clathrin-mediated endocytosis of ITGB1 and TFR used a siRNA mixture of EPS15 and EPS15L1, and

a Dab2 mutant with impaired binding to EH domain-containing proteins EPS15 and ITSN1 suggesting a partially

overlapping role of the EH domain-containing proteins (PubMed:22648170)

6 PDB 3D structures from and Proteopedia for EPS15:

1C07 (3D)

1EH2 (3D)

1F8H (3D)

1FF1 (3D)

2IV9 (3D)

2JXC (3D)

Secondary accessions: B2R8J7 D3DPJ2 Q5SRH4

Alternative splicing: 2 isoforms: P42566-1 P42566-2

Explore the universe of human proteins at neXtProt for EPS15: NX_P42566

Explore proteomics data for EPS15 at MOPED

Post-translational modifications:

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 ATR¹

Ubiquitination² at Lys413, Lys495, Lys638, Lys754, Lys788, Lys793, Lys801, Lys818, Lys860, Lys890

Modification sites at PhosphoSitePlus

See EPS15 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts):

NP_001153441.1 NP_001972.1

ENSEMBL proteins:

ENSP00000360795 ENSP00000360798 ENSP00000474739 ENSP00000379428

Reactome Protein details: P42566

EPS15 Human Recombinant Protein Products:

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	antibodies-online peptides for EPS15

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EPS15 Assay Products:

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	antibodies-online kits for EPS15 (4 products)

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:

EFHAND: EF-hand domain containing

5 InterPro protein domains:

IPR011992 EF-hand-dom_pair

IPR002048 EF_hand_dom

IPR000261 EPS15_homology

IPR003903 Ubiquitin-int_motif

IPR018247 EF_Hand_1_Ca_BS

Graphical View of Domain Structure for InterPro Entry P42566

ProtoNet protein and cluster: P42566

2 Blocks protein domains:

IPB000261 EPS15 homology (EH)

IPB003903 Ubiquitin interacting motif

UniProtKB/Swiss-Prot: EPS15_HUMAN, P42566

Domain: The EH domain interacts with Asn-Pro-Phe (NPF) motifs of target proteins

Similarity: Contains 2 EF-hand domains

Similarity: Contains 3 EH domains

Similarity: Contains 2 UIM (ubiquitin-interacting motif) repeats

Find genes that share domains with EPS15 About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: EPS15_HUMAN, P42566

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). 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 entry for EPS15:

EGFR pathway substrate,mouse eps15 homolog,likely involved in cell growth regulation

Gene Ontology (GO): 4 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005509	calcium ion binding	IEA	--
GO:0005515	protein binding	IPI	10383425
GO:0017124	SH3 domain binding	IEA	--
GO:0042802	identical protein binding	IEA	--

Find genes that share ontologies with EPS15 About GenesLikeMe

Phenotypes:
4 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Eps15):

cellular

hematopoietic system

immune system

nervous system

Find genes that share phenotypes with EPS15 About GenesLikeMe

Animal Models:
MGI mouse knock-out Eps15^tm1Noff for EPS15

genOway: Develop your customized and physiologically relevant rodent model for EPS15

miRNA Products:		Block miRNA regulation of human, mouse, rat EPS15 using miScript Target Protectors
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		SwitchGear 3'UTR luciferase reporter plasmid: EPS15 3' UTR sequence

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In Situ Assay
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

EPS15_HUMAN, P42566: 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

EPS15_HUMAN, P42566: Isoform 2: Early endosome membrane; Peripheral membrane protein; Cytoplasmic side.

Note=Colocalizes with HGS on bilayered clathrin coats on endosomes

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
endosome	5
plasma membrane	5
cytosol	4
nucleus	3
cytoskeleton	2
golgi apparatus	1
lysosome	1
vacuole	1

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Gene Ontology (GO): Selected cellular component terms (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IDA	--
GO:0005829	cytosol	TAS	--
GO:0005886	plasma membrane	IDA	15465819
GO:0005905	coated pit	TAS	9762922
GO:0030122	AP-2 adaptor complex	IEA	--

Find genes that share ontologies with EPS15 About GenesLikeMe

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for EPS15 About (see all 12)

See pathways by source

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by

SuperPath

Contained pathways About

Signaling by FGFR

Signaling by EGFR

0.83

Signaling by EGFR in Cancer

0.82

Delta508-CFTR traffic / ER-to-Golgi in CF

Transport Clathrin-coated vesicle cycle

0.32

wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)

0.31

Signaling by GPCR

Signal Transduction

0.58

Endocytic Trafficking of EGFR

Endocytic Trafficking of EGFR

0.36

Development HGF signaling pathway

Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met)

0.31

Find genes that share SuperPaths with EPS15 About GenesLikeMe

Pathways by source See SuperPaths
Show all pathways

1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for EPS15

Endocytic Trafficking of EGFR

1 Cell Signaling Technology (CST) Pathway for EPS15

Tyrosine Kinases / Adaptors

2 GeneGo (Thomson Reuters) Pathways for EPS15

	wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)
	Transport Clathrin-coated vesicle cycle

4 BioSystems Pathways for EPS15

	EGFR1 Signaling Pathway
	Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met)
	Internalization of ErbB1
	Notch signaling pathway

1 Reactome Pathway for EPS15

EGFR downregulation

1 Kegg Pathway (Kegg details for EPS15):

Endocytosis

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for EPS15
Interactions:

GeneGlobe Interaction Network for EPS15

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for EPS15 (P42566^{1, 2, 3} ENSP00000360798⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 244)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
STON2	Q8WXE9¹^,²^,³, ENSP00000267540⁴	EBI-396684,EBI-539742 MINT-6180038 MINT-6180111 MINT-6180129 MINT-6180018 MINT-6179779 MINT-6179905 MINT-6180093 MINT-6179941 MINT-6180075 MINT-6179996 MINT-6179890 MINT-6179923 MINT-6179875 MINT-6179857 MINT-6179977 MINT-6180056 I2D: score=4 STRING: ENSP00000267540
NUMB	P49757²^,³, ENSP00000347169⁴	MINT-17946 MINT-17947 I2D: score=5 STRING: ENSP00000347169
AGFG1	P52594²^,³	MINT-50023 MINT-50024 I2D: score=5
LAPTM5	Q13571²^,³, ENSP00000294507⁴	MINT-62182 I2D: score=3 STRING: ENSP00000294507
SH3BP4	Q9P0V3²^,³, ENSP00000340237⁴	MINT-7159813 I2D: score=2 STRING: ENSP00000340237

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Gene Ontology (GO): Selected biological process terms (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006897	endocytosis	IEA	--
GO:0007173	epidermal growth factor receptor signaling pathway	TAS	--
GO:0008283	cell proliferation	TAS	8183552
GO:0015031	protein transport	IEA	--
GO:0016050	vesicle organization	TAS	9762922

Find genes that share ontologies with EPS15 About GenesLikeMe

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for EPS15

5 Novoseek inferred chemical compound relationships for EPS15 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
tyrosine	47.2	30	10953014 (5), 19109251 (3), 7689153 (2), 9162018 (2) (see all 16)
phosphotyrosine	37.8	6	15465819 (1), 10953014 (1), 15155807 (1)
cholesterol	0	2	16919152 (1), 17919781 (1)
lipid	0	1	16887992 (1)
phosphatidylinositol	0	2	17412695 (2)

Find genes that share compounds with EPS15 About GenesLikeMe

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for EPS15 gene (2 alternative transcripts):

NM_001159969.1 NM_001981.2

Unigene Cluster for EPS15:

Epidermal growth factor receptor pathway substrate 15

Hs.83722 [show with all ESTs]

Unigene Representative Sequence: NM_001981

10 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000371730 ENST00000371733(uc001csp.3 uc001csq.1 uc009vyz.1)

ENST00000486505 ENST00000478657 ENST00000493793 ENST00000371727 ENST00000464478

ENST00000471391 ENST00000465467 ENST00000396122

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		SwitchGear 3'UTR luciferase reporter plasmid: EPS15 3' UTR sequence

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Flow Cytometry
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eBioscience FlowRNA Probe Sets ( VA1-12277) for EPS15

Additional mRNA sequence:

AF052132.1 AK090936.1 AK129853.1 AK294297.1 AK308128.1 AK313396.1 BC054006.1 BX647676.1

DQ367924.1 U07707.1 Z29064.1 Z29070.1

11 DOTS entries:

DT.100777918 DT.447690 DT.95290133 DT.95290139 DT.100008201 DT.99946098 DT.95290125 DT.91771128

DT.95290138 DT.100737445 DT.97779149

Selected AceView cDNA sequences (see all 287):

AI804840 D87737 AL043493 AI520942 AI690679 AI989954 AI003407 AA642346

AA234969 Z44586 BM765791 BF445696 BU147062 BU742017 AI864625 AI191519

CA414407 BF059527 BE550950 AI472645 F10989 AW949896 AL712061 BM907204

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for EPS15 About this scheme

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:

ECgene alternative splicing isoforms for EPS15

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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EPS15 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: CTGTGTCCAA

About this image

EPS15 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 6) fully expand


Brain (Nervous System) fully expand to see all 4 entries
Cerebral Cortex

Ovary (Reproductive System) fully expand to see all 2 entries
Ovarian Mesenchymal Stroma Cells Ovary Interstitium
Oviduct

Testis (Reproductive System)
Leydig Cells Testis Interstitium

Trophoblast (Extraembryonic Tissues)
Trophoblast Cells Trophoblast

Pancreas (Endocrine System)
Islets of Langerhans

EPS15 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

EPS15 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.83722

UniProtKB/Swiss-Prot: EPS15_HUMAN, P42566

Tissue specificity: Ubiquitously expressed

Custom PCR Arrays for EPS15

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPS15

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals and fungi.

Orthologs for EPS15 gene from Selected species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Eps15^{1 , 5}	epidermal growth factor receptor pathway substrate more^{1, 5}	89.45(n)¹ 89.6(a)¹		4 (51.29 cM)⁵ 13858¹ NM_007943.3¹ NP_031969.1¹ 109280268⁵
chicken (Gallus gallus)	Aves	EPS15¹	epidermal growth factor receptor pathway substrate more	77.64(n) 77.9(a)		424633 NM_001031283.1 NP_001026454.1
lizard (Anolis carolinensis)	Reptilia	EPS15⁶	epidermal growth factor receptor pathway substrate...	72(a)	1 ↔ 1	4(113993467-114075163)
tropical clawed frog (Xenopus tropicalis)	Amphibia	eps15¹	epidermal growth factor receptor pathway substrate more	65.79(n) 65.75(a)		100145116 NM_001126628.2 NP_001120100.2
zebrafish (Danio rerio)	Actinopterygii	eps15¹	epidermal growth factor receptor pathway substrate more	60.63(n) 61.72(a)		795505 XM_002663099.3 XP_002663145.3
fruit fly (Drosophila melanogaster)	Insecta	Eps-15⁶	Epidermal growth factor receptor pathway substrate...	23(a)	1 → many	2R(20655837-20662788)
worm (Caenorhabditis elegans)	Secernentea	ehs-1⁶	Protein EHS-1, isoform b (ehs-1) mRNA, complete cd...	27(a)	1 → many	II(5820712-5824085) WBGene00001224
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	EDE1(YBL047C)⁴	Key endocytic protein involved in a network of interactions more	--		2(132040-127895) 852233 NP_009506.1

ENSEMBL Gene Tree for EPS15 (if available)
TreeFam Gene Tree for EPS15 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for EPS15 gene

REPS1² EPS15L1² EHD3² REPS2² EHD2² EHD1² EHD4² ITSN1²

ITSN2² SRL²

2 SIMAP similar genes for EPS15 using alignment to 4 protein entries: EPS15_HUMAN (see all proteins):

EPS15L1 DKFZp586A0524

Find genes that share paralogs with EPS15 About GenesLikeMe

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs67920039^1,2	C	--	50014457(-)	`ATTTT-/TGTGTGT`	1	--	int¹		1		NA	2
rs185688910^1,2		--	51819574(+)	`TGAGAC/TGGAGT`	2	--	ds500¹		0	--	--	--	--
rs11205837^1,2	C,A,H	--	51819592(+)	`tgtcaC/Tccagg`	2	--	ds500¹		0	--	--	--	--
rs188550830^1,2		--	51819621(+)	`ATCTCA/GGCTCA`	2	--	ds500¹		0	--	--	--	--
rs192109527^1,2		--	51819676(+)	`CCTCCC/TGAGTA`	2	--	ds500¹		0	--	--	--	--
rs12070416^1,2	F	--	51819717(+)	`TGCTAA/TTTTTT`	2	--	ds500¹		2		NA WA	120
rs183837087^1,2		--	51819751(+)	`TTTCAC/TCATGT`	2	--	ds500¹		0	--	--	--	--
rs145545853^1,2		--	51819808(+)	`TTGGCA/CTCCCA`	2	--	ds500¹		0	--	--	--	--
rs2405698^1,2		--	51819833(+)	`caggcA/Gcgagc`	2	--	ds500¹		0	--	--	--	--
rs79431474^1,2	C,F	--	51819835(+)	`GGCGCG/AAGCCA`	2	--	ds500¹		2		CSA NA	122

HapMap Linkage Disequilibrium report for EPS15 (51819935 - 51985000 bp)

Structural Variations
Database of Genomic Variants (DGV) 4 variations for EPS15: About this table

Variant ID	Type	Subtype	PubMed ID
esv2659806	CNV	Deletion	23128226
esv272092	CNV	Insertion	20981092
esv273142	CNV	Insertion	20981092
esv25434	CNV	Loss	19812545

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing EPS15

DNA2.0 Custom Variant and Variant Library Synthesis for EPS15

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 600051 OMIM disorders: --

UniProtKB/Swiss-Prot: EPS15_HUMAN, P42566

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

1 disease for EPS15:
About MalaCards

troyer syndrome

Find genes that share disorders with EPS15 About GenesLikeMe

2 Novoseek inferred disease relationships for EPS15 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
down syndrome	11.5	1	14525795 (1)
tumors	0	2	7791787 (1), 10481267 (1)

Genetic Association Database (GAD): EPS15
Human Genome Epidemiology (HuGE) Navigator: EPS15 (2 documents)

Export disorders for EPS15 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for EPS15 gene, integrated from 10 sources (see all 220):
(articles sorted by number of sources associating them with EPS15)

Utopia: connect your pdf to the dynamic
world of online information

The human eps15 gene, encoding a tyrosine kinase substrate, is conserved in evolution and maps to 1p31-p32. (PubMed id 8183552)^{1, 2, 3, 9} Wong W.T.... di Fiore P.P. (Oncogene 1994)
An endosomally localized isoform of Eps15 interacts with Hrs to mediate degradation of epidermal growth factor receptor. (PubMed id 18362181)^{1, 2, 9} Roxrud I.... Stenmark H. (J. Cell Biol. 2008)
STAM and Hrs are subunits of a multivalent ubiquitin-binding complex on early endosomes. (PubMed id 12551915)^{1, 2, 9} Bache K.G.... Stenmark H. (J. Biol. Chem. 2003)
Epsin is an EH-domain-binding protein implicated in clathrin-mediated endocytosis. (PubMed id 9723620)^{1, 2, 9} Chen H.... De Camilli P. (Nature 1998)
Structure and Asn-Pro-Phe binding pocket of the Eps15 homology domain. (PubMed id 9721102)^{1, 2, 9} de Beer T.... Overduin M. (Science 1998)
Solution structure of Eps15's third EH domain reveals coincident Phe- Trp and Asn-Pro-Phe binding sites. (PubMed id 10757979)^{1, 2, 9} Enmon J.L.... Overduin M. (Biochemistry 2000)
Molecular mechanism of NPF recognition by EH domains. (PubMed id 11062555)^{1, 2, 9} de Beer T.... Overduin M. (Nat. Struct. Biol. 2000)
The clathrin adaptor Dab2 recruits EH domain scaffold proteins to regulate integrin beta1 endocytosis. (PubMed id 22648170)^{1, 2} Teckchandani A.... Cooper J.A. (Mol. Biol. Cell 2012)
Characterization of the EFC/F-BAR domain protein, FCHO2. (PubMed id 21762413)^{1, 2} Uezu A.... Nakanishi H. (Genes Cells 2011)
A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order. (PubMed id 22036096)^{1, 4} Ramasamy A....Jarvis D.L. (J. Allergy Clin. Immunol. 2011)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 2060	HGNC: 3419	AceView: EPS15	Ensembl:ENSG00000085832	euGenes: HUgn2060
ECgene: EPS15	Kegg: 2060	H-InvDB: EPS15

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for EPS15	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for EPS15	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for EPS15 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for EPS15 gene:
Search GeneIP for patents involving EPS15

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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EPS15 Gene

Epidermal Growth Factor Receptor Pathway Substrate 15

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EPS15 Gene

Epidermal Growth Factor Receptor Pathway Substrate 15

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