• Gene id: 2059

Gene Summary

• Gene Symbol: EPS8   Gene   UCSC   Ensembl
• Aliases: DFNB102
• Gene name: epidermal growth factor receptor pathway substrate 8
• Alternate names: epidermal growth factor receptor kinase substrate 8,
• Gene location: 12p12.3 (15789387: 15620133)     Exons: 1     NC_000012.12
• Gene summary(Entrez): 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
• OMIM: 600206

Protein Summary

• Protein general information: Q12929  
  • Name: Epidermal growth factor receptor kinase substrate 8
  • Length: 822  
  • Mass: 91882
  • 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.
• Sequence:

  MNGHISNHPSSFGMYPSQMNGYGSSPTFSQTDREHGSKTSAKALYEQRKNYARDSVSSVSDISQYRVEHLTTFVL
  DRKDAMITVDDGIRKLKLLDAKGKVWTQDMILQVDDRAVSLIDLESKNELENFPLNTIQHCQAVMHSCSYDSVLA
  LVCKEPTQNKPDLHLFQCDEVKANLISEDIESAISDSKGGKQKRRPDALRMISNADPSIPPPPRAPAPAPPGTVT
  QVDVRSRVAAWSAWAADQGDFEKPRQYHEQEETPEMMAARIDRDVQILNHILDDIEFFITKLQKAAEAFSELSKR
  KKNKKGKRKGPGEGVLTLRAKPPPPDEFLDCFQKFKHGFNLLAKLKSHIQNPSAADLVHFLFTPLNMVVQATGGP
  ELASSVLSPLLNKDTIDFLNYTVNGDERQLWMSLGGTWMKARAEWPKEQFIPPYVPRFRNGWEPPMLNFMGATME
  QDLYQLAESVANVAEHQRKQEIKRLSTEHSSVSEYHPADGYAFSSNIYTRGSHLDQGEAAVAFKPTSNRHIDRNY
  EPLKTQPKKYAKSKYDFVARNNSELSVLKDDILEILDDRKQWWKVRNASGDSGFVPNNILDIVRPPESGLGRADP
  PYTHTIQKQRMEYGPRPADTPPAPSPPPTPAPVPVPLPPSTPAPVPVSKVPANITRQNSSSSDSGGSIVRDSQRH
  KQLPVDRRKSQMEEVQDELIHRLTIGRSAAQKKFHVPRQNVPVINITYDSTPEDVKTWLQSKGFNPVTVNSLGVL
  NGAQLFSLNKDELRTVCPEGARVYSQITVQKAALEDSSGSSELQEIMRRRQEKISAAASDSGVESFDEGSSH

• Structural information:
  • Protein Domains: (69..12-)
    (/note="P-)
    (part-)
    (381..41-)
    (/note="P-)
    (part-)
    (531..59-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192"-)
  • Interpro: IPR030222  IPR039801  IPR033928  IPR035462  IPR011993   IPR013625  IPR006020  IPR013761  IPR041418  IPR036028  IPR001452  
  • Prosite: PS50002
  • CDD: cd01210 cd11764
  • PDB: 2E8M
  • PDBsum: 2E8M
  • DIP: 32859
  • STRING: ENSP00000281172
• Other Databases: GeneCards:  EPS8  Malacards:  EPS8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032587	ruffle membrane	IBA	cellular component
GO:0030676	Rac guanyl-nucleotide exchange factor activity	IBA	contributes to
GO:0007266	Rho protein signal transduction	IBA	biological process
GO:0003779	actin binding	IBA	molecular function
GO:1900029	positive regulation of ruffle assembly	IBA	biological process
GO:0035023	regulation of Rho protein signal transduction	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0051016	barbed-end actin filament capping	ISS	biological process
GO:0032587	ruffle membrane	ISS	cellular component
GO:0016601	Rac protein signal transduction	ISS	biological process
GO:0008360	regulation of cell shape	ISS	biological process
GO:0005938	cell cortex	ISS	cellular component
GO:0003779	actin binding	ISS	molecular function
GO:0070358	actin polymerization-dependent cell motility	ISS	biological process
GO:0051764	actin crosslink formation	ISS	biological process
GO:0051017	actin filament bundle assembly	ISS	biological process
GO:0048365	Rac GTPase binding	ISS	molecular function
GO:0036336	dendritic cell migration	ISS	biological process
GO:0032420	stereocilium	ISS	cellular component
GO:0030832	regulation of actin filament length	ISS	biological process
GO:0010458	exit from mitosis	ISS	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0035591	signaling adaptor activity	IEA	molecular function
GO:0051016	barbed-end actin filament capping	IEA	biological process
GO:0051017	actin filament bundle assembly	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0005938	cell cortex	IEA	cellular component
GO:0008344	adult locomotory behavior	IEA	biological process
GO:0008360	regulation of cell shape	IEA	biological process
GO:0016601	Rac protein signal transduction	IEA	biological process
GO:0017146	NMDA selective glutamate receptor complex	IEA	cellular component
GO:0032426	stereocilium tip	IEA	cellular component
GO:0032587	ruffle membrane	IEA	cellular component
GO:0051016	barbed-end actin filament capping	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0099072	regulation of postsynaptic membrane neurotransmitter receptor levels	IEA	biological process
GO:0014069	postsynaptic density	IEA	cellular component
GO:0005903	brush border	IEA	cellular component
GO:0010458	exit from mitosis	IEA	biological process
GO:0014069	postsynaptic density	IEA	cellular component
GO:0030832	regulation of actin filament length	IEA	biological process
GO:0031532	actin cytoskeleton reorganization	IEA	biological process
GO:0032420	stereocilium	IEA	cellular component
GO:0032421	stereocilium bundle	IEA	cellular component
GO:0036336	dendritic cell migration	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0048149	behavioral response to ethanol	IEA	biological process
GO:0048365	Rac GTPase binding	IEA	molecular function
GO:0051017	actin filament bundle assembly	IEA	biological process
GO:0051764	actin crosslink formation	IEA	biological process
GO:0070358	actin polymerization-dependent cell motility	IEA	biological process
GO:1990830	cellular response to leukemia inhibitory factor	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0005938	cell cortex	IEA	cellular component
GO:0032587	ruffle membrane	IEA	cellular component
GO:0030426	growth cone	IEA	cellular component
GO:0032420	stereocilium	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0031982	vesicle	HDA	cellular component

Diseases

Associated diseases	References
Deafness, autosomal recessive	KEGG:H00605
Deafness, autosomal recessive	KEGG:H00605
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray