Aliases for EPS8 Gene
Aliases for EPS8 Gene
External Ids for EPS8 Gene
- HGNC: 3420
- Entrez Gene: 2059
- Ensembl: ENSG00000151491
- OMIM: 600206
- UniProtKB: Q12929
Previous GeneCards Identifiers for EPS8 Gene
- GC12M015512
- GC12M015917
- GC12M015673
Summaries 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 EGF/EGFR Signaling Pathway and Development EGFR signaling via small GTPases. 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 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.
Additional gene information for EPS8 Gene
- Monarch Initiative
- Search for EPS8 at DataMed
- Search for EPS8 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPS8 Gene
Genomics for EPS8 Gene
GeneHancer (GH) Regulatory Elements for EPS8 Gene
Promoters and enhancers for EPS8 Gene
- 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 UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the EPS8 gene promoter:
-
- TBP
- MZF-1
- MEF-2A
- aMEF-2
- Lmo2
- POU6F1 (c2)
- STAT5A
- AREB6
- E47
- RREB-1
Regulatory Element Products
Genomic Locations for EPS8 Gene
Genomic Locations for EPS8 Gene
- chr12:15,620,141-15,882,329
- (GRCh38/hg38)
- Size:
- 262,189 bases
- Orientation:
- Minus strand
- chr12:15,773,075-16,035,263
- (GRCh37/hg19)
- Size:
- 262,189 bases
- Orientation:
- Minus strand
Genomic View for EPS8 Gene
Genes around EPS8 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12p12.3 by Entrez Gene
- 12p12.3 by HGNC
- 12p12.3 by Ensembl
EPS8 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 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
- 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.
Protein Expression for EPS8 Gene
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:
-
- ENSP00000495824
- ENSP00000495722
- ENSP00000440591
- ENSP00000494842
- ENSP00000445235
- ENSP00000441888
- ENSP00000444613
- ENSP00000495956
- ENSP00000438490
- ENSP00000281172
- ENSP00000496516
- ENSP00000445815
- ENSP00000495312
- ENSP00000442388
- ENSP00000442883
- ENSP00000441867
- ENSP00000437806
- ENSP00000496406
- ENSP00000494338
- ENSP00000445985
- ENSP00000494689
- ENSP00000438668
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for EPS8 (Eps8)
- Novus Biologicals Antibodies for EPS8
-
Abcam antibodies for EPS8
- Invitrogen Antibodies for EPS8 (AFLGC-EPS8)
- GeneTex EPS8 Antibody for EPS8
-
Boster Bio Antibodies for EPS8
-
Santa Cruz Biotechnology (SCBT) Antibodies for EPS8
Protein Products
-
OriGene Purified Proteins for EPS8
- Search Origene for MassSpec and Protein Over-expression Lysates for EPS8
- Origene Custom Protein Services for EPS8
- Search GeneTex for Proteins for EPS8
-
Abcam proteins for EPS8
Assay Products
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
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for EPS8 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q12929UniProtKB/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.
Function for EPS8 Gene
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
| 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 | IEA,IPI | 15289329 |
| GO:0030676 | CONTRIBUTES_TO Rac guanyl-nucleotide exchange factor activity | IBA | -- |
| GO:0035591 | signaling adaptor activity | IEA | -- |
Phenotypes for EPS8 Gene
- MGI mutant phenotypes for EPS8:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for EPS8:
-
- Decreased shRNA abundance (Z-score < -2)
- Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation
- Decreased shRNA abundance
- Increased shRNA abundance (Z-score > 2)
- Decreased p24 protein expression
- Decreased viability
- no effect
- Synthetic lethal with Ras
- Mildly decreased CFP-tsO45G cell surface transport
Animal Models for EPS8 Gene
- MGI Knock Outs for EPS8:
-
- Eps8 Eps8<tm1Ppdf>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for EPS8
-
CRISPR Products
-
OriGene CRISPR knockouts for EPS8
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EPS8
- genomics-online: gRNA clones - Search results for 97 available EPS8 gene related products
- Overview of 97 available EPS8 gene related products
- Applied Biological Materials CRISPR for EPS8
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for EPS8
- GenScript: Design CRISPR guide RNA sequences for EPS8
miRNA for EPS8 Gene
- miRTarBase miRNAs that target EPS8
-
- hsa-mir-215-5p (MIRT024889)
- hsa-mir-192-5p (MIRT026253)
- hsa-mir-552-5p (MIRT507372)
- hsa-mir-589-3p (MIRT507373)
- hsa-mir-4262 (MIRT507374)
- hsa-mir-892c-5p (MIRT507375)
- hsa-mir-181d-5p (MIRT507376)
- hsa-mir-181c-5p (MIRT507377)
- hsa-mir-181b-5p (MIRT507378)
- hsa-mir-181a-5p (MIRT507379)
- hsa-mir-606 (MIRT507380)
- hsa-mir-543 (MIRT507381)
- hsa-mir-1273f (MIRT783295)
- hsa-mir-129-5p (MIRT783482)
- hsa-mir-3529-5p (MIRT784925)
- hsa-mir-379-5p (MIRT785402)
- hsa-mir-4451 (MIRT785901)
- hsa-mir-4534 (MIRT786205)
- hsa-mir-4650-3p (MIRT786301)
- hsa-mir-6832-5p (MIRT788996)
- hsa-mir-8082 (MIRT789831)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for EPS8
- Browse OriGene Inhibitory RNA Products For EPS8
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPS8
- genomics-online: shRNA clones - Search results for 97 available EPS8 gene related products
- Overview of 97 available EPS8 gene related products
Clone Products
- Sino Biological Human cDNA Clone for EPS8
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EPS8
- Applied Biological Materials Clones for EPS8
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines 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}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| nucleus | 3 |
| cytosol | 3 |
| golgi apparatus | 3 |
| cytoskeleton | 2 |
- Golgi apparatus (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005886 | plasma membrane | IEA,IBA | -- |
| GO:0005903 | brush border | IDA | -- |
| GO:0005938 | cell cortex | ISS | -- |
| GO:0014069 | postsynaptic density | IDA | -- |
Pathways & Interactions for EPS8 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Tyrosine Kinases / Adaptors | ||
| 2 | Development EGFR signaling pathway |
.41
|
|
| 3 | Development EGFR signaling via small GTPases | ||
| 4 | Development FGFR signaling pathway | ||
| 5 | G-protein signaling RAC1 in cellular process | ||
Pathways by source for EPS8 Gene
4 BioSystems pathways for EPS8 Gene
2 GeneGo (Thomson Reuters) pathways for EPS8 Gene
1 Qiagen pathway for EPS8 Gene
1 Cell Signaling Technology pathway for EPS8 Gene
Interacting Proteins for EPS8 Gene
Selected Interacting proteins:
Q12929-EPS8_HUMAN
ENSP00000281172
for EPS8 Gene via
UniProtKB
STRING
MINT
IID
GPS-Prot Interaction Network for EPS8
| 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:0007266 | Rho protein signal transduction | IBA | -- |
| GO:0008283 | cell proliferation | TAS | 8084614 |
| GO:0008344 | adult locomotory behavior | IMP | -- |
No data available for SIGNOR curated interactions for EPS8 Gene
Transcripts for EPS8 Gene
mRNA/cDNA for EPS8 Gene
- (7) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (245) Selected AceView cDNA sequences:
- (27) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000543468 3722 bps (uc058lof.1)
- ENST00000543523 3925 bps (uc058log.1)
- ENST00000644374 3873 bps
- ENST00000281172 4061 bps (uc001rdb.4)
- ENST00000646918 4576 bps
Unigene Clusters for EPS8 Gene
CRISPR Products
-
OriGene CRISPR knockouts for EPS8
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EPS8
- genomics-online: gRNA clones - Search results for 97 available EPS8 gene related products
- Overview of 97 available EPS8 gene related products
- Applied Biological Materials CRISPR for EPS8
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for EPS8
- GenScript: Design CRISPR guide RNA sequences for EPS8
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for EPS8
- Browse OriGene Inhibitory RNA Products For EPS8
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPS8
- genomics-online: shRNA clones - Search results for 97 available EPS8 gene related products
- Overview of 97 available EPS8 gene related products
Clone Products
- Sino Biological Human cDNA Clone for EPS8
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EPS8
- Applied Biological Materials Clones for EPS8
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
Expression for EPS8 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Testis (Reproductive System)
- Pre-Sertoli Cells Testis Cord
- Head Mesenchyme (Muscoskeletal System)
- Kidney (Urinary System)
- Adipose (Muscoskeletal System)
-
Uterus (Reproductive System)
-
Colon (Gastrointestinal Tract)
-
Gall Bladder (Hepatobiliary System)
-
Ovary (Reproductive System)
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
NURSA nuclear receptor signaling pathways regulating expression of EPS8 Gene:
EPS8SOURCE GeneReport for Unigene cluster for EPS8 Gene:
Hs.591160mRNA 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(4.4)
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
Primer Products
-
OriGene qPCR primer pairs for EPS8
-
OriGene qPCR primer pairs and template standards for EPS8
- genomics-online: primer clones - Search results for 97 available EPS8 gene related products
- Overview of 97 available EPS8 gene related products
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | EPS8 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | EPS8 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | EPS8 34 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | EPS8 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Eps8 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Eps8 33 |
|
||
| chicken (Gallus gallus) |
Aves | EPS8 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | EPS8 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | eps8 33 |
|
||
| Str.19077 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.11312 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | eps8 34 33 |
|
OneToOne | |
| zgc56041 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | CG8907 34 |
|
ManyToMany | |
| aru 34 35 |
|
ManyToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | eps-8 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToOne |
- Species where no ortholog for EPS8 was found in the sources mined by GeneCards:
-
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for EPS8: view image
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
Variants for EPS8 Gene
| SNP ID | Clin | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs587777691 | pathogenic, Deafness, autosomal recessive 102 | 15,681,274(-) | G/A | coding_sequence_variant, stop_gained | |
| rs139258361 | uncertain-significance, not specified | 15,650,927(-) | A/G | coding_sequence_variant, missense_variant | |
| rs1000002784 | -- | 15,631,331(-) | C/G/T | intron_variant | |
| rs1000026198 | -- | 15,730,216(-) | T/C | intron_variant | |
| rs1000030290 | -- | 15,684,707(-) | G/C | intron_variant |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPS8 Gene
Disorders for EPS8 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| deafness, autosomal recessive 102 |
|
|
| autosomal recessive non-syndromic sensorineural deafness type dfnb |
|
|
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. {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 of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for EPS8 Gene
Publications for EPS8 Gene
- 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 22 58
- 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 22 58
- 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 22 58
- Eps8 decreases chemosensitivity and affects survival of cervical cancer patients. (PMID: 18566210) Chen YJ … Leu TH (Molecular cancer therapeutics 2008) 3 4 22 58
- Regulation of cell shape by Cdc42 is mediated by the synergic actin-bundling activity of the Eps8-IRSp53 complex. (PMID: 17115031) Disanza A … Scita G (Nature cell biology 2006) 3 4 22 58
Products for EPS8 Gene
- R&D Systems Antibodies for EPS8 (Eps8)
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- antibodies-online: Search results for 112 available EPS8 Antibodies ranked by validation data
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- GeneTex EPS8 Antibody for EPS8
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- Santa Cruz Biotechnology (SCBT) Antibodies for EPS8
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- Horizon Cell Lines for EPS8
- genomics-online: cdna clones - Search results for 97 available EPS8 gene related products
- Overview of 97 available EPS8 gene related products
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- Overview of 97 available EPS8 gene related products
- genomics-online: gRNA clones - Search results for 97 available EPS8 gene related products
- Overview of 97 available EPS8 gene related products
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- Overview of 97 available EPS8 gene related products
- genomics-online: shRNA clones - Search results for 97 available EPS8 gene related products
- Overview of 97 available EPS8 gene related products
- Browse GeneCopoeia Cell Lines
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- GeneCopoeia miRNA 3'UTR Target clone products for EPS8
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- Boster Bio Antibodies for EPS8
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Sources for EPS8 Gene
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