EPS8 Gene (Protein Coding)

Epidermal Growth Factor Receptor Pathway Substrate 8

GC12M015621
GIFtS:
46
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 variant... See more...

Aliases for EPS8 Gene

Aliases for EPS8 Gene

  • Epidermal Growth Factor Receptor Pathway Substrate 8 2 3 5
  • Epidermal Growth Factor Receptor Kinase Substrate 8 3 4
  • DFNB102 3
  • EPS8 5

External Ids for EPS8 Gene

Previous GeneCards Identifiers for EPS8 Gene

  • GC12M015512
  • GC12M015917
  • GC12M015673
  • GC12M015664

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 Branchiootic Syndrome 1. Among its related pathways are G-protein signaling RAC1 in cellular process and Development ERBB-family signaling. Gene Ontology (GO) annotations related to this gene include actin binding and Rac GTPase binding. An important paralog of this gene is EPS8L2.

UniProtKB/Swiss-Prot Summary 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 WHRN 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

Additional gene information for EPS8 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EPS8 Gene

Genomics for EPS8 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for EPS8 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH12J015786 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.2 +94.6 94629 6.2 ZSCAN16 CHD2 ZBTB10 BCL11A SP1 MXD4 CEBPA ZNF217 ZBTB7B ZEB1 HSALNG0089565 EPS8 SUPT16HP1 ENSG00000255565 RERG
GH12J015881 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 -0.6 -645 3.7 TBP MXD4 FEZF1 CEBPA MNT SMAD5 ETS1 MBD2 POLR2A BRCA1 STRAP EPS8 LOC102724146 NONHSAG010594.2 DERA
GH12J015731 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE dbSUPER 250.1 +149.5 149456 3.1 EBF1 ELF1 ZNF664 IKZF1 BMI1 BACH1 HNF1A ARID3A NFIL3 ATF7 EPS8 STRAP HSALNG0089563 piR-46501-024 RERG
GH12J015698 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 17.7 +181.4 181418 5.3 CEBPB EP300 SMARCA5 STAT3 JUND ADNP FOSL1 PRDM6 SPI1 BATF EPS8 RNU6-251P STRAP ENSG00000256564 piR-46501-024 HSALNG0089563 RERG
GH12J015590 Promoter/Enhancer 1.4 ENCODE CraniofacialAtlas dbSUPER 11.3 +291.8 291802 0.9 CTCF ZNF610 SIN3A REST ZNF511 SMAD4 TRIM22 SAP130 ZSCAN9 KMT2B EPS8 RNU6-251P lnc-STRAP-5 HSALNG0089554 RERG PTPRO
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EPS8 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EPS8

Top Transcription factor binding sites by QIAGEN in the EPS8 gene promoter:
  • aMEF-2
  • AREB6
  • E47
  • Lmo2
  • MEF-2A
  • MZF-1
  • POU6F1 (c2)
  • RREB-1
  • STAT5A
  • TBP

Genomic Locations for EPS8 Gene

Latest Assembly
chr12:15,620,134-15,882,329
(GRCh38/hg38)
Size:
262,196 bases
Orientation:
Minus strand

Previous Assembly
chr12:15,773,068-15,942,322
(GRCh37/hg19 by Entrez Gene)
Size:
169,255 bases
Orientation:
Minus strand

chr12:15,773,092-16,035,263
(GRCh37/hg19 by Ensembl)
Size:
262,172 bases
Orientation:
Minus strand

Genomic View for EPS8 Gene

Genes around EPS8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EPS8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EPS8 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for EPS8 Gene

Proteins for EPS8 Gene

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  • 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 WHRN. 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

Protein Expression for EPS8 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for EPS8 Gene

  • 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).
  • 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.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EPS8 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EPS8 Gene

Domains & Families for EPS8 Gene

Gene Families for EPS8 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for EPS8 Gene

InterPro:
Blocks:
  • SH3 domain signature
  • Phosphotyrosine interaction domain
ProtoNet:

Suggested Antigen Peptide Sequences for EPS8 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ79138, highly similar to Epidermal growth factor receptor kinase substrate 8 (B4DX66_HUMAN)
  • Epidermal growth factor receptor kinase substrate 8 (EPS8_HUMAN)

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.
Family:
  • Belongs to the EPS8 family.
genes like me logo Genes that share domains with EPS8: view

Function for EPS8 Gene

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  2. CRISPR products for research
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  4. Inhibitory RNAs for research
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  6. Cell Lines for research

Molecular function for EPS8 Gene

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 WHRN 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.
GENATLAS Biochemistry:
epidermal growth factor receptor (EGFR) substrate,complexing with SSH3BP1 and putatively mediating the transfer of signals from Ras to Racs

Phenotypes From GWAS Catalog for EPS8 Gene

Gene Ontology (GO) - Molecular Function for EPS8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA,ISS --
GO:0005085 guanyl-nucleotide exchange factor activity IBA --
GO:0005515 protein binding IEA,IPI 15289329
GO:0031267 small GTPase binding ISS --
GO:0035591 signaling adaptor activity IEA --
genes like me logo Genes that share ontologies with EPS8: view
genes like me logo Genes that share phenotypes with EPS8: view

Human Phenotype Ontology for EPS8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EPS8 Gene

MGI Knock Outs for EPS8:
  • Eps8 Eps8<tm1Ppdf>

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPS8

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EPS8 gene
Compartment Confidence
plasma membrane 4
extracellular 4
nucleus 3
cytosol 3
golgi apparatus 3
cytoskeleton 2
endosome 2
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EPS8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IBA 21873635
GO:0005903 brush border IEA --
GO:0005938 cell cortex ISS --
GO:0014069 postsynaptic density IEA --
genes like me logo Genes that share ontologies with EPS8: view

Pathways & Interactions for EPS8 Gene

PathCards logo

SuperPathways for EPS8 Gene

SuperPathway Contained pathways
1 Tyrosine Kinases / Adaptors
Tyrosine Kinases / Adaptors
-
2 Development ERBB-family signaling
EGF Pathway
.41
3 Development EGFR signaling via small GTPases
Development EGFR signaling via small GTPases
.40
4 Development FGFR signaling pathway
Development FGFR signaling pathway
.49
5 G-protein signaling RAC1 in cellular process
CDC42 signaling events
.33
genes like me logo Genes that share pathways with EPS8: view

Pathways by source for EPS8 Gene

2 GeneGo (Thomson Reuters) pathways for EPS8 Gene
  • Development EGFR signaling via small GTPases
  • Development FGFR signaling pathway
1 Qiagen pathway for EPS8 Gene
  • EGF Pathway
1 Cell Signaling Technology pathway for EPS8 Gene

SIGNOR curated interactions for EPS8 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for EPS8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007266 Rho protein signal transduction IBA 21873635
GO:0008344 adult locomotory behavior IEA --
GO:0008360 regulation of cell shape ISS --
GO:0010458 exit from mitosis ISS --
GO:0016601 Rac protein signal transduction ISS --
genes like me logo Genes that share ontologies with EPS8: view

Drugs & Compounds for EPS8 Gene

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(1) Drugs for EPS8 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

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

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

Transcripts for EPS8 Gene

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  3. Inhibitory RNAs for research
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mRNA/cDNA for EPS8 Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
27 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPS8

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

Expression for EPS8 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EPS8 Gene

mRNA expression in normal human tissues for EPS8 Gene
mRNA expression by GTEx for EPS8 GenemRNA expression by BioGPS 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, MaxQB, and MOPED for EPS8 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EPS8

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.

Evidence on tissue expression from TISSUES for EPS8 Gene

  • Nervous system(4.8)
  • Liver(4.5)
  • Kidney(2.8)
  • Heart(2.6)
  • Intestine(2.5)
  • Muscle(2.3)
  • Lung(2.3)
  • Skin(2.3)
  • Spleen(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for EPS8 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • middle ear
  • outer ear
  • skull
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with EPS8: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners 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
Chimpanzee
(Pan troglodytes)
 Mammalia EPS8 30 31
  • 99.39 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia EPS8 30 31
  • 92.61 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia EPS8 30 31
  • 89.67 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia EPS8 31
  • 86 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Eps8 30 17 31
  • 84.49 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Eps8 30
  • 84.06 (n)
Chicken
(Gallus gallus)
 Aves EPS8 30 31
  • 77.99 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia EPS8 31
  • 77 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia eps8 30
  • 67.73 (n)
Str.19077 30
African clawed frog
(Xenopus laevis)
 Amphibia Xl.11312 30
Zebrafish
(Danio rerio)
 Actinopterygii eps8 30 31
  • 63.22 (n)
 OneToOne
zgc56041 30
Fruit Fly
(Drosophila melanogaster)
 Insecta CG8907 31
  • 25 (a)
 ManyToMany
aru 31 32
  • 22 (a)
 ManyToMany
Worm
(Caenorhabditis elegans)
 Secernentea eps-8 31
  • 23 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 38 (a)
 OneToOne
Species where no ortholog for EPS8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 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 EPS8 Gene

ENSEMBL:
Gene Tree for EPS8 (if available)
TreeFam:
Gene Tree for EPS8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EPS8: view image

Paralogs for EPS8 Gene

Paralogs for EPS8 Gene

(4) SIMAP similar genes for EPS8 Gene using alignment to 9 proteins:

  • EPS8_HUMAN
  • B4DX66_HUMAN
  • F5GYM8_HUMAN
  • F5H0R8_HUMAN
  • F5H1B5_HUMAN
  • F5H2B8_HUMAN
  • F5H3Q6_HUMAN
  • F5H714_HUMAN
  • H0YFG1_HUMAN
genes like me logo Genes that share paralogs with EPS8: view

Variants for EPS8 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EPS8 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
929875 Likely Benign: not specified 15,666,514(-) T/C
NM_004447.6(EPS8):c.525A>G (p.Leu175=) 		SYNONYMOUS
rs111934716 Benign: not specified; not provided 15,624,353(-) A/G
NM_004447.6(EPS8):c.2099T>C (p.Ile700Thr) 		MISSENSE
rs1126786 Benign: not specified; not provided 15,623,161(-) C/T
NM_004447.6(EPS8):c.2352G>A (p.Leu784=) 		SYNONYMOUS
rs138518548 Likely Benign: not specified 15,660,726(-) G/A
NM_004447.6(EPS8):c.825C>T (p.His275=) 		SYNONYMOUS
rs139258361 Conflicting Interpretations: Deafness; not specified; not provided 15,650,927(-) A/G
NM_004447.6(EPS8):c.1330T>C (p.Phe444Leu) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for EPS8 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
esv2135886 CNV deletion 18987734
esv2663867 CNV deletion 23128226
esv2760899 CNV gain 21179565
esv3580159 CNV loss 25503493
esv3628677 CNV loss 21293372
nsv1045663 CNV loss 25217958
nsv1138109 CNV deletion 24896259
nsv557615 CNV loss 21841781

Variation tolerance for EPS8 Gene

Residual Variation Intolerance Score: 32.1% 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)

Additional Variant Information for EPS8 Gene

Human Gene Mutation Database (HGMD)
EPS8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EPS8

SNP Genotyping and Copy Number Assays for research

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

Disorders for EPS8 Gene

MalaCards: The human disease database

(8) MalaCards diseases for EPS8 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
deafness, autosomal recessive 102
  • dfnb102
branchiootic syndrome 1
  • bos1
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
deafness, autosomal recessive 106
  • dfnb106
autosomal recessive nonsyndromic deafness 3
  • autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3
- elite association - COSMIC cancer census association via MalaCards
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 variants 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. {ECO:0000269 PubMed:11244499, ECO:0000269 PubMed:18566210, ECO:0000269 PubMed:19008210, ECO:0000269 PubMed:19116338, ECO:0000269 PubMed:19448673}.

Additional Disease Information for EPS8

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 WT … Di Fiore PP (Oncogene 1994) 2 3 4 23
  2. EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness. (PMID: 24741995) Behlouli A … Petit C (Orphanet journal of rare diseases 2014) 3 4 74
  3. Epidermal growth factor receptor pathway substrate 8 is overexpressed in human pituitary tumors: role in proliferation and survival. (PMID: 19116338) Xu M … Wierman ME (Endocrinology 2009) 3 4 23
  4. Upregulation of Eps8 in oral squamous cell carcinoma promotes cell migration and invasion through integrin-dependent Rac1 activation. (PMID: 19448673) Yap LF … Paterson IC (Oncogene 2009) 3 4 23
  5. Eps8 decreases chemosensitivity and affects survival of cervical cancer patients. (PMID: 18566210) Chen YJ … Leu TH (Molecular cancer therapeutics 2008) 3 4 23

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