EPS8

Epidermal growth factor receptor kinase substrate 8 is an enzyme that in humans is encoded by the EPS8 gene.^[5][6]

EPS8
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2E8M
Identifiers
Aliases	EPS8, DFNB102, epidermal growth factor receptor pathway substrate 8
External IDs	OMIM: 600206; MGI: 104684; HomoloGene: 3272; GeneCards: EPS8; OMA:EPS8 - orthologs
Gene location (Human) Chr. Chromosome 12 (human)[1] Band 12p12.3 Start 15,620,158 bp[1] End 15,882,329 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6 G1|6 66.78 cM Start 137,454,243 bp[2] End 137,631,874 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in jejunal mucosa mucosa of sigmoid colon Achilles tendon cartilage tissue corpus epididymis pericardium tail of epididymis popliteal artery tibial arteries synovial joint Top expressed in secondary oocyte left colon zygote seminal vesicula migratory enteric neural crest cell primary oocyte ileum conjunctival fornix right kidney parotid gland More reference expression data BioGPS More reference expression data
Gene ontology Molecular function signaling adaptor activity protein binding actin binding Cellular component cytoplasm vesicle cell projection membrane postsynaptic density growth cone plasma membrane synapse NMDA selective glutamate receptor complex stereocilium ruffle membrane cell junction cell cortex brush border neuron projection extracellular exosome stereocilium bundle stereocilium tip glutamatergic synapse Biological process actin cytoskeleton reorganization actin polymerization-dependent cell motility epidermal growth factor receptor signaling pathway regulation of actin filament length adult locomotory behavior barbed-end actin filament capping exit from mitosis actin filament bundle assembly dendritic cell migration actin crosslink formation regulation of cell shape behavioral response to ethanol cell population proliferation Rac protein signal transduction signal transduction positive regulation of signal transduction cellular response to leukemia inhibitory factor Rho protein signal transduction regulation of Rho protein signal transduction regulation of postsynaptic membrane neurotransmitter receptor levels positive regulation of ruffle assembly Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2059 13860 Ensembl ENSG00000151491 ENSMUSG00000015766 UniProt Q12929 Q08509 RefSeq (mRNA) NM_004447 NM_001271587 NM_001271588 NM_001271589 NM_001271595 NM_007945 RefSeq (protein) NP_004438 NP_001258516 NP_001258517 NP_001258518 NP_001258524 NP_031971 Location (UCSC) Chr 12: 15.62 – 15.88 Mb Chr 6: 137.45 – 137.63 Mb PubMed search [3] [4]
Wikidata
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Function

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.^[6]

Clinical significance

Mutations in EPS8 cause congenital deafness.Behlouli A, Bonnet C, Abdi S, Bouaita A, Lelli A, Hardelin JP, Schietroma C, Rous Y, Louha M, Cheknane A, Lebdi H, Boudjelida K, Makrelouf M, Zenati A, Petit C (2014). "EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness". Orphanet Journal of Rare Diseases. 9 (1): 55. doi:10.1186/1750-1172-9-55. PMC 4022326. PMID 24741995.

Interactions

EPS8 has been shown to interact with:

• ABI1,^[7][8][9]
• BAIAP2,^[10][11]
• DVL1,^[12]
• SHB,^[13]
• SHC1^[14]
• SOS1,^[7][15] and
• Src.^[16]