Human Gene EPS8 (ENST00000281172.10_9) from GENCODE V47lift37
  Description: 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. (from UniProt Q12929)
Gencode Transcript: ENST00000281172.10_9
Gencode Gene: ENSG00000151491.14_21
Transcript (Including UTRs)
   Position: hg19 chr12:15,773,068-15,942,322 Size: 169,255 Total Exon Count: 21 Strand: -
Coding Region
   Position: hg19 chr12:15,774,251-15,835,885 Size: 61,635 Coding Exon Count: 20 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:15,773,068-15,942,322)mRNA (may differ from genome)Protein (822 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblExonPrimerGeneCardsHGNC
MalacardsMGIPubMedUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: EPS8_HUMAN
DESCRIPTION: RecName: Full=Epidermal growth factor receptor kinase substrate 8;
FUNCTION: Upon binding to EGF receptor/EGFR enhances EGF-dependent mitogenic signals. Can bind multiple cellular targets.
SUBUNIT: Homodimer (By similarity). Interacts with LANCL1 (By similarity). Interacts with EGFR; mediates EPS8 phosphorylation (By similarity). Interacts with BAIAP2. Interacts with SHB.
INTERACTION: P49419:ALDH7A1; NbExp=2; IntAct=EBI-375576, EBI-726842; Q9UQB8:BAIAP2; NbExp=4; IntAct=EBI-375576, EBI-525456;
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.
DOMAIN: The SH3 domain mediates interaction with SHB.
PTM: Phosphorylated by several receptor tyrosine kinases.
SIMILARITY: Belongs to the EPS8 family.
SIMILARITY: Contains 1 PH domain.
SIMILARITY: Contains 1 SH3 domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: EPS8
Diseases sorted by gene-association score: deafness, autosomal recessive 102* (969), autosomal recessive non-syndromic sensorineural deafness type dfnb* (56)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 57.99 RPKM in Adipose - Subcutaneous
Total median expression: 887.24 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -113.00249-0.454 Picture PostScript Text
3' UTR -255.101183-0.216 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011993 - PH_like_dom
IPR013625 - PTB
IPR006020 - PTyr_interaction_dom
IPR001452 - SH3_domain

Pfam Domains:
PF00018 - SH3 domain
PF00640 - Phosphotyrosine interaction domain (PTB/PID)
PF07653 - Variant SH3 domain
PF08416 - Phosphotyrosine-binding domain
PF14604 - Variant SH3 domain
PF18016 - SAM domain (Sterile alpha motif)

SCOP Domains:
47769 - SAM/Pointed domain
50044 - SH3-domain
50729 - PH domain-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2E8M - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q12929
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003779 actin binding
GO:0005070 SH3/SH2 adaptor activity
GO:0005515 protein binding
GO:0035591 signaling adaptor activity
GO:0048365 Rac GTPase binding

Biological Process:
GO:0007165 signal transduction
GO:0007173 epidermal growth factor receptor signaling pathway
GO:0008283 cell proliferation
GO:0008360 regulation of cell shape
GO:0009967 positive regulation of signal transduction
GO:0010458 exit from mitosis
GO:0016601 Rac protein signal transduction
GO:0030832 regulation of actin filament length
GO:0036336 dendritic cell migration
GO:0051016 barbed-end actin filament capping
GO:0051017 actin filament bundle assembly
GO:0051764 actin crosslink formation
GO:0070358 actin polymerization-dependent cell motility

Cellular Component:
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005938 cell cortex
GO:0016020 membrane
GO:0030054 cell junction
GO:0030426 growth cone
GO:0031982 vesicle
GO:0032420 stereocilium
GO:0032587 ruffle membrane
GO:0042995 cell projection
GO:0043005 neuron projection
GO:0045202 synapse
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  LF207447 - JP 2014500723-A/14950: Polycomb-Associated Non-Coding RNAs.
BC005836 - Homo sapiens epidermal growth factor receptor pathway substrate 8, mRNA (cDNA clone IMAGE:2962900), partial cds.
BC030010 - Homo sapiens epidermal growth factor receptor pathway substrate 8, mRNA (cDNA clone MGC:26317 IMAGE:4820933), complete cds.
U12535 - Human epidermal growth factor receptor kinase substrate (Eps8) mRNA, complete cds.
AK292931 - Homo sapiens cDNA FLJ78485 complete cds, highly similar to Homo sapiens epidermal growth factor receptor pathway substrate 8 (EPS8), mRNA.
AK291777 - Homo sapiens cDNA FLJ76317 complete cds, highly similar to Homo sapiens epidermal growth factor receptor pathway substrate 8 (EPS8), mRNA.
AK304860 - Homo sapiens cDNA FLJ56405 complete cds, highly similar to Epidermal growth factor receptor kinase substrate 8.
MA443024 - JP 2018138019-A/14950: Polycomb-Associated Non-Coding RNAs.
LF366264 - JP 2014500723-A/173767: Polycomb-Associated Non-Coding RNAs.
JD039958 - Sequence 20982 from Patent EP1572962.
LF366265 - JP 2014500723-A/173768: Polycomb-Associated Non-Coding RNAs.
JD454424 - Sequence 435448 from Patent EP1572962.
JD475501 - Sequence 456525 from Patent EP1572962.
JD329969 - Sequence 310993 from Patent EP1572962.
LF366266 - JP 2014500723-A/173769: Polycomb-Associated Non-Coding RNAs.
JD122709 - Sequence 103733 from Patent EP1572962.
AK316239 - Homo sapiens cDNA, FLJ79138 complete cds, highly similar to Epidermal growth factor receptor kinase substrate 8.
JD022238 - Sequence 3262 from Patent EP1572962.
AK301834 - Homo sapiens cDNA FLJ50272 complete cds, highly similar to Epidermal growth factor receptor kinase substrate 8.
JD028737 - Sequence 9761 from Patent EP1572962.
AK316134 - Homo sapiens cDNA, FLJ79033 complete cds, highly similar to Epidermal growth factor receptor kinase substrate 8.
KJ896778 - Synthetic construct Homo sapiens clone ccsbBroadEn_06172 EPS8 gene, encodes complete protein.
AB587363 - Synthetic construct DNA, clone: pF1KB3008, Homo sapiens EPS8 gene for epidermal growth factor receptor pathway substrate 8, without stop codon, in Flexi system.
LF366267 - JP 2014500723-A/173770: Polycomb-Associated Non-Coding RNAs.
LF366268 - JP 2014500723-A/173771: Polycomb-Associated Non-Coding RNAs.
LF366274 - JP 2014500723-A/173777: Polycomb-Associated Non-Coding RNAs.
LF366279 - JP 2014500723-A/173782: Polycomb-Associated Non-Coding RNAs.
LF366283 - JP 2014500723-A/173786: Polycomb-Associated Non-Coding RNAs.
CU688796 - Synthetic construct Homo sapiens gateway clone IMAGE:100020473 5' read EPS8 mRNA.
LF366286 - JP 2014500723-A/173789: Polycomb-Associated Non-Coding RNAs.
LF366287 - JP 2014500723-A/173790: Polycomb-Associated Non-Coding RNAs.
LF366288 - JP 2014500723-A/173791: Polycomb-Associated Non-Coding RNAs.
LF366289 - JP 2014500723-A/173792: Polycomb-Associated Non-Coding RNAs.
LF366290 - JP 2014500723-A/173793: Polycomb-Associated Non-Coding RNAs.
LF366291 - JP 2014500723-A/173794: Polycomb-Associated Non-Coding RNAs.
MA601841 - JP 2018138019-A/173767: Polycomb-Associated Non-Coding RNAs.
MA601842 - JP 2018138019-A/173768: Polycomb-Associated Non-Coding RNAs.
MA601843 - JP 2018138019-A/173769: Polycomb-Associated Non-Coding RNAs.
MA601844 - JP 2018138019-A/173770: Polycomb-Associated Non-Coding RNAs.
MA601845 - JP 2018138019-A/173771: Polycomb-Associated Non-Coding RNAs.
MA601851 - JP 2018138019-A/173777: Polycomb-Associated Non-Coding RNAs.
MA601856 - JP 2018138019-A/173782: Polycomb-Associated Non-Coding RNAs.
MA601860 - JP 2018138019-A/173786: Polycomb-Associated Non-Coding RNAs.
MA601863 - JP 2018138019-A/173789: Polycomb-Associated Non-Coding RNAs.
MA601864 - JP 2018138019-A/173790: Polycomb-Associated Non-Coding RNAs.
MA601865 - JP 2018138019-A/173791: Polycomb-Associated Non-Coding RNAs.
MA601866 - JP 2018138019-A/173792: Polycomb-Associated Non-Coding RNAs.
MA601867 - JP 2018138019-A/173793: Polycomb-Associated Non-Coding RNAs.
MA601868 - JP 2018138019-A/173794: Polycomb-Associated Non-Coding RNAs.
LF366327 - JP 2014500723-A/173830: Polycomb-Associated Non-Coding RNAs.
JD326363 - Sequence 307387 from Patent EP1572962.
MA601904 - JP 2018138019-A/173830: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: A6NMC3, A8K6W2, A8KA66, B4DX66, ENST00000281172.1, ENST00000281172.2, ENST00000281172.3, ENST00000281172.4, ENST00000281172.5, ENST00000281172.6, ENST00000281172.7, ENST00000281172.8, ENST00000281172.9, EPS8_HUMAN, NR_182223, Q12929, Q8N6J0, uc317jvx.1, uc317jvx.2
UCSC ID: ENST00000281172.10_9
RefSeq Accession: NM_004447.6
Protein: Q12929 (aka EPS8_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.