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Aliases for EPS8 Gene

Aliases for EPS8 Gene

  • Epidermal Growth Factor Receptor Pathway Substrate 8 2 3
  • DFNB102 3

External Ids for EPS8 Gene

Previous GeneCards Identifiers for EPS8 Gene

  • GC12M015512
  • GC12M015917
  • GC12M015673

Summaries for EPS8 Gene

Entrez Gene Summary for EPS8 Gene

  • This gene encodes a member of the EPS8 family. This protein contains one PH domain and one SH3 domain. It functions as part of the EGFR pathway, though its exact role has not been determined. Highly similar proteins in other organisms are involved in the transduction of signals from Ras to Rac and growth factor-mediated actin remodeling. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]

GeneCards Summary for EPS8 Gene

EPS8 (Epidermal Growth Factor Receptor Pathway Substrate 8) is a Protein Coding gene. Diseases associated with EPS8 include deafness, autosomal recessive 102 and autosomal recessive non-syndromic sensorineural deafness type dfnb. Among its related pathways are Tyrosine Kinases / Adaptors and Development FGFR signaling pathway. GO annotations related to this gene include actin binding and Rac GTPase binding. An important paralog of this gene is EPS8L2.

UniProtKB/Swiss-Prot for EPS8 Gene

  • Signaling adapter that controls various cellular protrusions by regulating actin cytoskeleton dynamics and architecture. Depending on its association with other signal transducers, can regulate different processes. Together with SOS1 and ABI1, forms a trimeric complex that participates in transduction of signals from Ras to Rac by activating the Rac-specific guanine nucleotide exchange factor (GEF) activity. Acts as a direct regulator of actin dynamics by binding actin filaments and has both barbed-end actin filament capping and actin bundling activities depending on the context. Displays barbed-end actin capping activity when associated with ABI1, thereby regulating actin-based motility process: capping activity is auto-inhibited and inhibition is relieved upon ABI1 interaction. Also shows actin bundling activity when associated with BAIAP2, enhancing BAIAP2-dependent membrane extensions and promoting filopodial protrusions. Involved in the regulation of processes such as axonal filopodia growth, stereocilia length, dendritic cell migration and cancer cell migration and invasion. Acts as a regulator of axonal filopodia formation in neurons: in the absence of neurotrophic factors, negatively regulates axonal filopodia formation via actin-capping activity. In contrast, it is phosphorylated in the presence of BDNF leading to inhibition of its actin-capping activity and stimulation of filopodia formation. Component of a complex with DFNB31 and MYO15A that localizes at stereocilia tips and is required for elongation of the stereocilia actin core. Indirectly involved in cell cycle progression; its degradation following ubiquitination being required during G2 phase to promote cell shape changes.

Gene Wiki entry for EPS8 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPS8 Gene

Genomics for EPS8 Gene

Regulatory Elements for EPS8 Gene

Epigenetics Products

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

Genomic Location for EPS8 Gene

Chromosome:
12
Start:
15,620,141 bp from pter
End:
15,882,329 bp from pter
Size:
262,189 bases
Orientation:
Minus strand

Genomic View for EPS8 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EPS8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EPS8 Gene

Proteins for EPS8 Gene

  • Protein details for EPS8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q12929-EPS8_HUMAN
    Recommended name:
    Epidermal growth factor receptor kinase substrate 8
    Protein Accession:
    Q12929
    Secondary Accessions:
    • A6NMC3
    • A8K6W2
    • A8KA66
    • B4DX66
    • Q8N6J0

    Protein attributes for EPS8 Gene

    Size:
    822 amino acids
    Molecular mass:
    91882 Da
    Quaternary structure:
    • Homodimer. Part of a complex consisting of ABI1, EPS8 and SOS1. Interacts with MYO15A and DFNB31. Interacts with LANCL1 (By similarity). Interacts with EGFR; mediates EPS8 phosphorylation (By similarity). Interacts with BAIAP2. Interacts with SHB.

    Three dimensional structures from OCA and Proteopedia for EPS8 Gene

    Alternative splice isoforms for EPS8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EPS8 Gene

Proteomics data for EPS8 Gene at MOPED

Post-translational modifications for EPS8 Gene

  • Phosphorylation at Ser-625 and Thr-629 by MAPK following BDNF treatment promotes removal from actin and filopodia formation (By similarity). Phosphorylated by several receptor tyrosine kinases.
  • Ubiquitinated by the SCF(FBXW5) E3 ubiquitin-protein ligase complex during G2 phase, leading to its transient degradation and subsequent cell shape changes required to allow mitotic progression. Reappears at the midzone of dividing cells (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for EPS8 (EPS8)

No data available for DME Specific Peptides for EPS8 Gene

Domains & Families for EPS8 Gene

Protein Domains for EPS8 Gene

Graphical View of Domain Structure for InterPro Entry

Q12929

UniProtKB/Swiss-Prot:

EPS8_HUMAN :
  • The effector region is required for activating the Rac-specific guanine nucleotide exchange factor (GEF) activity. It mediates both barbed-end actin capping and actin bundling activities. The capping activity is mediated by an amphipathic helix that binds within the hydrophobic pocket at the barbed ends of actin blocking further addition of actin monomers, while the bundling activity is mediated by a compact 4 helix bundle, which contacts 3 actin subunits along the filament (By similarity).
  • Belongs to the EPS8 family.
Domain:
  • The effector region is required for activating the Rac-specific guanine nucleotide exchange factor (GEF) activity. It mediates both barbed-end actin capping and actin bundling activities. The capping activity is mediated by an amphipathic helix that binds within the hydrophobic pocket at the barbed ends of actin blocking further addition of actin monomers, while the bundling activity is mediated by a compact 4 helix bundle, which contacts 3 actin subunits along the filament (By similarity).
  • The SH3 domain mediates interaction with SHB
  • Contains 1 PH domain.
  • Contains 1 SH3 domain.
Family:
  • Belongs to the EPS8 family.
genes like me logo Genes that share domains with EPS8: view

No data available for Gene Families for EPS8 Gene

Function for EPS8 Gene

Molecular function for EPS8 Gene

GENATLAS Biochemistry:
epidermal growth factor receptor (EGFR) substrate,complexing with SSH3BP1 and putatively mediating the transfer of signals from Ras to Racs
UniProtKB/Swiss-Prot Function:
Signaling adapter that controls various cellular protrusions by regulating actin cytoskeleton dynamics and architecture. Depending on its association with other signal transducers, can regulate different processes. Together with SOS1 and ABI1, forms a trimeric complex that participates in transduction of signals from Ras to Rac by activating the Rac-specific guanine nucleotide exchange factor (GEF) activity. Acts as a direct regulator of actin dynamics by binding actin filaments and has both barbed-end actin filament capping and actin bundling activities depending on the context. Displays barbed-end actin capping activity when associated with ABI1, thereby regulating actin-based motility process: capping activity is auto-inhibited and inhibition is relieved upon ABI1 interaction. Also shows actin bundling activity when associated with BAIAP2, enhancing BAIAP2-dependent membrane extensions and promoting filopodial protrusions. Involved in the regulation of processes such as axonal filopodia growth, stereocilia length, dendritic cell migration and cancer cell migration and invasion. Acts as a regulator of axonal filopodia formation in neurons: in the absence of neurotrophic factors, negatively regulates axonal filopodia formation via actin-capping activity. In contrast, it is phosphorylated in the presence of BDNF leading to inhibition of its actin-capping activity and stimulation of filopodia formation. Component of a complex with DFNB31 and MYO15A that localizes at stereocilia tips and is required for elongation of the stereocilia actin core. Indirectly involved in cell cycle progression; its degradation following ubiquitination being required during G2 phase to promote cell shape changes.

Gene Ontology (GO) - Molecular Function for EPS8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding ISS --
GO:0005070 SH3/SH2 adaptor activity TAS 8084614
GO:0005515 protein binding IPI 15289329
GO:0035591 signaling adaptor activity --
GO:0048365 Rac GTPase binding ISS --
genes like me logo Genes that share ontologies with EPS8: view
genes like me logo Genes that share phenotypes with EPS8: view

Animal Models for EPS8 Gene

MGI Knock Outs for EPS8:

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EPS8

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for EPS8 Gene

Localization for EPS8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EPS8 Gene

Cytoplasm, cell cortex. Cell projection, ruffle membrane. Cell projection, growth cone. Cell projection, stereocilium. Cell junction, synapse, synaptosome. Note=Localizes at the tips of the stereocilia of the inner and outer hair cells (By similarity). Localizes to the midzone of dividing cells. {ECO:0000250, ECO:0000250 UniProtKB:Q08509}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EPS8 Gene COMPARTMENTS Subcellular localization image for EPS8 gene
Compartment Confidence
extracellular 5
plasma membrane 4
golgi apparatus 3
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for EPS8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005903 brush border IEA --
GO:0005938 cell cortex ISS --
GO:0014069 postsynaptic density IEA --
GO:0017146 NMDA selective glutamate receptor complex IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with EPS8: view

Pathways & Interactions for EPS8 Gene

genes like me logo Genes that share pathways with EPS8: view

Pathways by source for EPS8 Gene

1 Qiagen pathway for EPS8 Gene
1 Cell Signaling Technology pathway for EPS8 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for EPS8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction TAS 8084614
GO:0007173 epidermal growth factor receptor signaling pathway TAS 8084614
GO:0008283 cell proliferation TAS 8084614
GO:0008344 adult locomotory behavior IEA --
GO:0008360 regulation of cell shape ISS --
genes like me logo Genes that share ontologies with EPS8: view

No data available for SIGNOR curated interactions for EPS8 Gene

Drugs & Compounds for EPS8 Gene

(1) Drugs for EPS8 Gene - From: NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
tyrosine Nutra 547

(1) Additional Compounds for EPS8 Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphotyrosine
genes like me logo Genes that share compounds with EPS8: view

Transcripts for EPS8 Gene

Unigene Clusters for EPS8 Gene

Epidermal growth factor receptor pathway substrate 8:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EPS8

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for EPS8 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18a · 18b ^
SP1: - - - -
SP2: - - - - -
SP3: -
SP4:
SP5:
SP6:

ExUns: 19 ^ 20a · 20b ^ 21
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for EPS8 Gene

GeneLoc Exon Structure for
EPS8
ECgene alternative splicing isoforms for
EPS8

Expression for EPS8 Gene

mRNA expression in normal human tissues for EPS8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EPS8 Gene

This gene is overexpressed in Bone marrow stromal cell (15.8), Urine (12.1), and Gallbladder (10.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for EPS8 Gene



SOURCE GeneReport for Unigene cluster for EPS8 Gene Hs.591160

mRNA Expression by UniProt/SwissProt for EPS8 Gene

Q12929-EPS8_HUMAN
Tissue specificity: Expressed in all tissues analyzed, including heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Expressed in all epithelial and fibroblastic lines examined and in some, but not all, hematopoietic cells
genes like me logo Genes that share expression patterns with EPS8: view

Protein tissue co-expression partners for EPS8 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for EPS8 Gene

Orthologs for EPS8 Gene

This gene was present in the common ancestor of animals.

Orthologs for EPS8 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia EPS8 35
  • 89.67 (n)
  • 90.93 (a)
EPS8 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EPS8 35
  • 92.61 (n)
  • 94.64 (a)
EPS8 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Eps8 35
  • 84.49 (n)
  • 89.16 (a)
Eps8 16
Eps8 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EPS8 35
  • 99.39 (n)
  • 99.88 (a)
EPS8 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Eps8 35
  • 84.06 (n)
  • 90.39 (a)
oppossum
(Monodelphis domestica)
Mammalia EPS8 36
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves EPS8 35
  • 77.99 (n)
  • 79.9 (a)
EPS8 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EPS8 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eps8 35
  • 67.73 (n)
  • 67.73 (a)
Str.19077 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.11312 35
zebrafish
(Danio rerio)
Actinopterygii eps8 35
  • 63.22 (n)
  • 65.4 (a)
zgc56041 35
eps8 36
  • 58 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta aru 37
  • 46 (a)
aru 36
  • 22 (a)
ManyToMany
CG8907 36
  • 25 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea eps-8 36
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 38 (a)
OneToOne
Species with no ortholog for EPS8:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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 EPS8 Gene

ENSEMBL:
Gene Tree for EPS8 (if available)
TreeFam:
Gene Tree for EPS8 (if available)

Paralogs for EPS8 Gene

Paralogs for EPS8 Gene

genes like me logo Genes that share paralogs with EPS8: view

Variants for EPS8 Gene

Sequence variations from dbSNP and Humsavar for EPS8 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs10466860 -- 15,719,041(+) GGAAG(A/G)AAGAG intron-variant
rs10505785 -- 15,706,812(+) ACCTA(C/T)TCTAT intron-variant
rs10505786 -- 15,708,037(+) GAGTA(C/G)CGTTG intron-variant
rs10505787 -- 15,709,205(+) AGAGA(C/T)AGACT intron-variant
rs10505788 -- 15,749,048(+) TTTTT(G/T)TCAAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EPS8 Gene

Variant ID Type Subtype PubMed ID
dgv1379n71 CNV Loss 21882294
esv2135886 CNV Deletion 18987734
esv2663867 CNV Deletion 23128226

Variation tolerance for EPS8 Gene

Residual Variation Intolerance Score: 32.11% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.61; 56.42% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EPS8 Gene

HapMap Linkage Disequilibrium report
EPS8
Human Gene Mutation Database (HGMD)
EPS8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPS8 Gene

Disorders for EPS8 Gene

MalaCards: The human disease database

(2) MalaCards diseases for EPS8 Gene - From: OMIM, ClinVar, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 102
  • deafness, autosomal recessive, 102
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
- elite association
Search EPS8 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

EPS8_HUMAN
  • Deafness, autosomal recessive, 102 (DFNB102) [MIM:615974]: A form of non-syndromic deafness characterized by profound hearing loss affecting all frequencies. Vestibular function is unaffected. {ECO:0000269 PubMed:24741995}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Defects in EPS8 are associated with some cancers, such as pancreatic, oral squamous cell carcinomas or pituitary cancers. Contributes to cell transformation in response to growth factor treatment and is overexpressed in a number of tumors, indicating that EPS8 levels must be tightly regulated.

Relevant External Links for EPS8

Genetic Association Database (GAD)
EPS8
Human Genome Epidemiology (HuGE) Navigator
EPS8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EPS8
genes like me logo Genes that share disorders with EPS8: view

No data available for Genatlas for EPS8 Gene

Publications for EPS8 Gene

  1. Evolutionary conservation of the EPS8 gene and its mapping to human chromosome 12q23-q24. (PMID: 8084614) Wong W.T. … di Fiore P.P. (Oncogene 1994) 2 23 67
  2. Mithramycin inhibits human epithelial carcinoma cell proliferation and migration involving downregulation of Eps8 expression. (PMID: 19799886) Yang T.P. … Wang C.J. (Chem. Biol. Interact. 2010) 23 67
  3. Eps8 is recruited to lysosomes and subjected to chaperone-mediated autophagy in cancer cells. (PMID: 20184880) Welsch T. … Schmidt J. (Exp. Cell Res. 2010) 23 67
  4. Epidermal growth factor receptor pathway substrate 8 is overexpressed in human pituitary tumors: role in proliferation and survival. (PMID: 19116338) Xu M. … Wierman M.E. (Endocrinology 2009) 23 67
  5. Structure of human lanthionine synthetase C-like protein 1 and its interaction with Eps8 and glutathione. (PMID: 19528316) Zhang W. … Zhang X.C. (Genes Dev. 2009) 23 67

Products for EPS8 Gene

Sources for EPS8 Gene

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