EPS8

EPS8 (EPS8 Signaling Adaptor) - Gene Overview and Clinical Significance

Gene Information Card

Symbol EPS8
Full Name EPS8 signaling adaptor
Gene Type protein-coding
Chromosomal Location 12q23.1
NCBI Gene ID 2059 ncbi.nlm.nih.gov/gene/2059
Ensembl ID ENSG00000111057
UniProt ID Q12929
OMIM ID 600206
HGNC ID 3420
Aliases EPS-8, EPS8L1, FLJ23356

Description

The EPS8 gene encodes a signaling adaptor protein involved in the regulation of cell proliferation, differentiation, and cytoskeletal organization. EPS8 functions as a substrate for the epidermal growth factor receptor (EGFR) kinase and participates in receptor endocytosis, actin remodeling, and signal transduction via the RAS/MAPK and PI3K/AKT pathways. It is implicated in various cancers and developmental disorders.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Colorectal cancer EPS8 overexpression enhances EGFR signaling and cell migration COSMIC, ClinVar
Breast cancer Amplification and overexpression of EPS8 promote tumor growth and metastasis COSMIC, NCBI
Hepatocellular carcinoma EPS8 upregulation correlates with poor prognosis and increased invasion COSMIC
Prostate cancer EPS8 variants associated with aggressive disease ClinVar
Intellectual disability De novo missense mutations in EPS8 linked to neurodevelopmental phenotypes ClinVar, OMIM

Expression Profile

Tissue Expression
Tissue nTPM level
Brain 12.5 Medium
Lung 8.3 Low
Liver 6.1 Low
Colon 15.2 Medium
Breast 9.8 Low
Prostate 11.4 Medium
Cell Line Expression
Cell Line nTPM Notes
HeLa 14.7 Cervical cancer cell line
A549 10.2 Lung cancer cell line
MCF7 18.3 Breast cancer cell line
HepG2 7.5 Liver cancer cell line
PC3 13.1 Prostate cancer cell line
Data source：Human Protein Atlas（proteinatlas.org）

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1234C>T (p.Arg412Cys) Missense <0.01 Altered EGFR binding affinity
c.567_569del (p.Glu189del) In-frame deletion <0.01 Impaired actin remodeling
c.2101G>A (p.Gly701Arg) Missense <0.01 Gain-of-function in cancer cell lines
c.45+1G>T Splice donor <0.01 Loss of function, reduced protein expression
Mutation functional classification

Loss of Function (LOF)

Splice-site and truncating mutations reduce EPS8 protein levels, impairing EGFR endocytosis and actin dynamics.

Gain of Function (GOF)

Missense mutations (e.g., p.Gly701Arg) enhance EPS8-mediated signaling, promoting cell proliferation and migration.

Dominant Negative (DN)

Deletion mutants (e.g., p.Glu189del) disrupt normal EPS8 function by interfering with protein-protein interactions.
View complete mutation data：
ClinVar：https://www.clinvar.com/gene/2059
COSMIC：https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=EPS8

Gene Ontology (GO)

• guanyl-nucleotide exchange factor activity (GO:0005085) • actin binding (GO:0003779)
• signal transduction (GO:0007165) • endocytosis (GO:0006897)
• actin cytoskeleton organization (GO:0030036) • neurotrophin TRK receptor signaling pathway (GO:0048011)

Pathways

• EGFR tyrosine kinase inhibitor resistance (KEGG hsa01521)
• RAS signaling pathway (KEGG hsa04014)
• PI3K-Akt signaling pathway (KEGG hsa04151)
• Regulation of actin cytoskeleton (KEGG hsa04810)

Protein Summary

EPS8 is a 822-amino-acid protein (UniProt Q12929) that contains an N-terminal phosphotyrosine-binding (PTB) domain, a central SH3 domain, and a C-terminal effector region. It acts as a scaffold linking EGFR to downstream effectors such as SOS1 and PI3K. EPS8 also directly binds actin and regulates cytoskeletal dynamics through its interaction with the WAVE complex. Post-translational modifications include tyrosine phosphorylation by EGFR and serine/threonine phosphorylation by MAPK.

Related Services

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Knock-in Tag
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Related Products

Product name Cat.No. Species Gene ID
EPS8 Knockout HEK293 Cell Line EDJ-KQ4546 Human 2059 Details Get a Quote
EPS8L1 Knockout HEK293 Cell Line EDJ-KQ13307 Human 54869 Details Get a Quote
EPS8L2 Knockout HEK293 Cell Line EDJ-KQ13309 Human 64787 Details Get a Quote
EPS8L3 Knockout HEK293 Cell Line EDJ-KQ13310 Human 79574 Details Get a Quote
EPS8 Knockout A-549 Cell Line EDJ-KQ27173 Human 2059 Details Get a Quote
EPS8 Knockout HCT 116 Cell Line EDJ-KQ27174 Human 2059 Details Get a Quote
EPS8 Knockout HeLa Cell Line EDJ-KQ25915 Human 2059 Details Get a Quote
EPS8L1 Knockout HCT 116 Cell Line EDJ-KQ41528 Human 54869 Details Get a Quote
EPS8L1 Knockout A-549 Cell Line EDJ-KQ42762 Human 54869 Details Get a Quote
EPS8L1 Knockout HeLa Cell Line EDJ-KQ42763 Human 54869 Details Get a Quote
EPS8L2 Knockout A-549 Cell Line EDJ-KQ42764 Human 64787 Details Get a Quote
EPS8L2 Knockout HCT 116 Cell Line EDJ-KQ42765 Human 64787 Details Get a Quote
EPS8L2 Knockout HeLa Cell Line EDJ-KQ42766 Human 64787 Details Get a Quote
EPS8L3 Knockout A-549 Cell Line EDJ-KQ42767 Human 79574 Details Get a Quote
EPS8L3 Knockout HeLa Cell Line EDJ-KQ57182 Human 79574 Details Get a Quote
Displaying Records 1 To 15 Of 16 Records

Reference Databases

NCBI Gene https://www.ncbi.nlm.nih.gov/gene/2059
OMIM https://www.omim.org/entry/600206
HGNC https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3420
Ensembl https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000111057
UniProt https://www.uniprot.org/uniprot/Q12929
ClinVar https://www.ncbi.nlm.nih.gov/clinvar/?term=EPS8%5Bgene%5D
COSMIC https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=EPS8
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