EPS8 EGFR pathway substrate 8, signaling adaptor [Homo sapiens (human)] - Gene

Summary

Official Symbol: EPS8provided by HGNC
Official Full Name: EGFR pathway substrate 8, signaling adaptorprovided by HGNC
Primary source: HGNC:HGNC:3420
See related: Ensembl:ENSG00000151491 MIM:600206; AllianceGenome:HGNC:3420
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DFNB102
Summary: 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]
Expression: Ubiquitous expression in gall bladder (RPKM 34.8), fat (RPKM 34.0) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12p12.3

Exon count:: 29

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (15620134..15789388, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (15497359..15666619, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (15773068..15942322, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HNF1A induces glioblastoma by upregulating EPS8 and activating PI3K/AKT signaling pathway.
Title: HNF1A induces glioblastoma by upregulating EPS8 and activating PI3K/AKT signaling pathway.
Loss of EPS8 sensitizes non-small-cell lung carcinoma to chemotherapy-induced DNA damage.
Title: Loss of EPS8 sensitizes non-small-cell lung carcinoma to chemotherapy-induced DNA damage.
Targeting of microvillus protein Eps8 by the NleH effector kinases from enteropathogenic E. coli.
Title: Targeting of microvillus protein Eps8 by the NleH effector kinases from enteropathogenic E. coli.
Apparent homozygosity for a novel splicing variant in EPS8 causes congenital profound hearing loss.
Title: Apparent homozygosity for a novel splicing variant in EPS8 causes congenital profound hearing loss.
Phase separation-mediated condensation of Whirlin-Myo15-Eps8 stereocilia tip complex.
Title: Phase separation-mediated condensation of Whirlin-Myo15-Eps8 stereocilia tip complex.
The roles and prognostic significance of ABI1-TSV-11 expression in patients with left-sided colorectal cancer.
Title: The roles and prognostic significance of ABI1-TSV-11 expression in patients with left-sided colorectal cancer.
EPS8 supports pancreatic cancer growth by inhibiting BMI1 mediated proteasomal degradation of ALDH7A1.
Title: EPS8 supports pancreatic cancer growth by inhibiting BMI1 mediated proteasomal degradation of ALDH7A1.
Effects and mechanisms of Eps8 on the biological behaviour of malignant tumours (Review).
Title: Effects and mechanisms of Eps8 on the biological behaviour of malignant tumours (Review).
miR-345 inhibits migration and stem-like cell phenotype in gastric cancer via inactivation of Rac1 by targeting EPS8.
Title: miR-345 inhibits migration and stem-like cell phenotype in gastric cancer via inactivation of Rac1 by targeting EPS8.
LncRNA DSCAM-AS1 acts as a competing endogenous RNA of miR-137 and regulates EPS8 to promote cell reproduction and suppresses cell apoptosis in Tamoxifen-resistant breast cancer
Title: LncRNA DSCAM-AS1 acts as a sponge of miR-137 to enhance Tamoxifen resistance in breast cancer.

Submit: New GeneRIF Correction See all GeneRIFs (51)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autosomal recessive nonsyndromic hearing loss 102 MedGen: C3892050 OMIM: 615974 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide association study identifies protein quantitative trait loci (pQTLs). EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of epidermal growth factor receptor pathway substrate 8 (EPS8) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH44788 (e-PCR)
- UniSTS:21278

GDB:314933 (e-PCR)
- UniSTS:156502

WI-14029 (e-PCR)
- UniSTS:38515

SHGC-149452 (e-PCR)
- UniSTS:177015

SHGC-132117 (e-PCR)
- UniSTS:170656

RH70563 (e-PCR)
- UniSTS:38357

SHGC-12935 (e-PCR)
- UniSTS:5607

WI-12658 (e-PCR)
- UniSTS:63730

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in Rac protein signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in Rho protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin crosslink formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in actin filament bundle assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in actin polymerization-dependent cell motility	ISS Inferred from Sequence or Structural Similarity more info
involved_in adult locomotory behavior	IEA Inferred from Electronic Annotation more info
involved_in barbed-end actin filament capping	ISS Inferred from Sequence or Structural Similarity more info
involved_in behavioral response to ethanol	IEA Inferred from Electronic Annotation more info
involved_in cellular response to leukemia inhibitory factor	IEA Inferred from Electronic Annotation more info
involved_in dendritic cell migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in exit from mitosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of ruffle assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of Rho protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of actin filament length	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cell shape	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of postsynaptic membrane neurotransmitter receptor levels	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of NMDA selective glutamate receptor complex	IEA Inferred from Electronic Annotation more info
located_in brush border	IEA Inferred from Electronic Annotation more info
located_in cell cortex	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular exosome	HDA more info	PubMed
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in growth cone	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in postsynaptic density	IEA Inferred from Electronic Annotation more info
is_active_in ruffle membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in ruffle membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in stereocilium	ISS Inferred from Sequence or Structural Similarity more info
located_in stereocilium tip	IEA Inferred from Electronic Annotation more info
located_in vesicle	HDA more info	PubMed

General protein information

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Preferred Names: epidermal growth factor receptor kinase substrate 8

Names: epidermal growth factor receptor pathway substrate 8

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_041808.2 RefSeqGene

Range

5000..174254

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001413831.1 → NP_001400760.1 epidermal growth factor receptor kinase substrate 8 isoform a

Status: REVIEWED

Source sequence(s)

AC073651, AC092753
NM_001413832.1 → NP_001400761.1 epidermal growth factor receptor kinase substrate 8 isoform b

Status: REVIEWED

Source sequence(s)

AC073651, AC092753

UniProtKB/Swiss-Prot

A6NMC3, A8K6W2, A8KA66, B4DX66, Q12929, Q8N6J0

Related

ENSP00000495824.1, ENST00000645775.1
NM_001413833.1 → NP_001400762.1 epidermal growth factor receptor kinase substrate 8 isoform b

Status: REVIEWED

Source sequence(s)

AC073651, AC092753

UniProtKB/Swiss-Prot

A6NMC3, A8K6W2, A8KA66, B4DX66, Q12929, Q8N6J0

Related

ENSP00000442388.1, ENST00000543612.5
NM_001413834.1 → NP_001400763.1 epidermal growth factor receptor kinase substrate 8 isoform b

Status: REVIEWED

Source sequence(s)

AC073651, AC092753

UniProtKB/Swiss-Prot

A6NMC3, A8K6W2, A8KA66, B4DX66, Q12929, Q8N6J0
NM_001413835.1 → NP_001400764.1 epidermal growth factor receptor kinase substrate 8 isoform c

Status: REVIEWED

Source sequence(s)

AC073651, AC092753
NM_001413836.1 → NP_001400765.1 epidermal growth factor receptor kinase substrate 8 isoform c

Status: REVIEWED

Source sequence(s)

AC073651, AC092753
NM_001413837.1 → NP_001400766.1 epidermal growth factor receptor kinase substrate 8 isoform d

Status: REVIEWED

Source sequence(s)

AC073651, AC092753
NM_001413838.1 → NP_001400767.1 epidermal growth factor receptor kinase substrate 8 isoform e

Status: REVIEWED

Source sequence(s)

AC092753

Related

ENSP00000441888.1, ENST00000540613.5
NM_001413839.1 → NP_001400768.1 epidermal growth factor receptor kinase substrate 8 isoform f

Status: REVIEWED

Source sequence(s)

AC073651, AC092753
NM_001413840.1 → NP_001400769.1 epidermal growth factor receptor kinase substrate 8 isoform g

Status: REVIEWED

Source sequence(s)

AC073651, AC092753
NM_004447.6 → NP_004438.3 epidermal growth factor receptor kinase substrate 8 isoform b

See identical proteins and their annotated locations for NP_004438.3

Status: REVIEWED

Source sequence(s)

AC073651, AC092753

Consensus CDS

CCDS31753.1

UniProtKB/Swiss-Prot

A6NMC3, A8K6W2, A8KA66, B4DX66, Q12929, Q8N6J0

UniProtKB/TrEMBL

A0A2R8Y4W2

Related

ENSP00000281172.5, ENST00000281172.10

Conserved Domains (3) summary

cd09540
Location:720 → 784

SAM_EPS8-like; SAM domain of EPS8-like subfamily

cd11764
Location:535 → 588

SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins

cd01210
Location:64 → 191

PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain

RNA

NR_182221.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC073651, AC092753

Related

ENST00000543468.5
NR_182222.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC073651, AC092753
NR_182223.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC073651, AC092753

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

15620134..15789388 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047428497.1 → XP_047284453.1 epidermal growth factor receptor kinase substrate 8 isoform X3

UniProtKB/Swiss-Prot

A6NMC3, A8K6W2, A8KA66, B4DX66, Q12929, Q8N6J0
XM_024448882.2 → XP_024304650.1 epidermal growth factor receptor kinase substrate 8 isoform X3

UniProtKB/Swiss-Prot

A6NMC3, A8K6W2, A8KA66, B4DX66, Q12929, Q8N6J0

UniProtKB/TrEMBL

A0A2R8Y4W2

Conserved Domains (3) summary

cd09540
Location:720 → 784

SAM_EPS8-like; SAM domain of EPS8-like subfamily

cd11764
Location:535 → 588

SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins

cd01210
Location:64 → 191

PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain
XM_024448878.2 → XP_024304646.1 epidermal growth factor receptor kinase substrate 8 isoform X2

UniProtKB/TrEMBL

A0A2R8Y4W2

Conserved Domains (3) summary

cd09540
Location:731 → 795

SAM_EPS8-like; SAM domain of EPS8-like subfamily

cd11764
Location:546 → 599

SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins

cd01210
Location:75 → 202

PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain
XM_047428498.1 → XP_047284454.1 epidermal growth factor receptor kinase substrate 8 isoform X3

UniProtKB/Swiss-Prot

A6NMC3, A8K6W2, A8KA66, B4DX66, Q12929, Q8N6J0
XM_047428494.1 → XP_047284450.1 epidermal growth factor receptor kinase substrate 8 isoform X1
XM_047428496.1 → XP_047284452.1 epidermal growth factor receptor kinase substrate 8 isoform X3

UniProtKB/Swiss-Prot

A6NMC3, A8K6W2, A8KA66, B4DX66, Q12929, Q8N6J0
XM_047428495.1 → XP_047284451.1 epidermal growth factor receptor kinase substrate 8 isoform X3

UniProtKB/Swiss-Prot

A6NMC3, A8K6W2, A8KA66, B4DX66, Q12929, Q8N6J0
XM_047428499.1 → XP_047284455.1 epidermal growth factor receptor kinase substrate 8 isoform X3

UniProtKB/Swiss-Prot

A6NMC3, A8K6W2, A8KA66, B4DX66, Q12929, Q8N6J0

Related

ENSP00000496406.1, ENST00000647087.1

Alternate T2T-CHM13v2.0

Genomic

NC_060936.1 Alternate T2T-CHM13v2.0

Range

15497359..15666619 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054371404.1 → XP_054227379.1 epidermal growth factor receptor kinase substrate 8 isoform X3

UniProtKB/Swiss-Prot

A6NMC3, A8K6W2, A8KA66, B4DX66, Q12929, Q8N6J0
XM_054371405.1 → XP_054227380.1 epidermal growth factor receptor kinase substrate 8 isoform X3

UniProtKB/Swiss-Prot

A6NMC3, A8K6W2, A8KA66, B4DX66, Q12929, Q8N6J0
XM_054371402.1 → XP_054227377.1 epidermal growth factor receptor kinase substrate 8 isoform X2
XM_054371406.1 → XP_054227381.1 epidermal growth factor receptor kinase substrate 8 isoform X3

UniProtKB/Swiss-Prot

A6NMC3, A8K6W2, A8KA66, B4DX66, Q12929, Q8N6J0
XM_054371407.1 → XP_054227382.1 epidermal growth factor receptor kinase substrate 8 isoform X3

UniProtKB/Swiss-Prot

A6NMC3, A8K6W2, A8KA66, B4DX66, Q12929, Q8N6J0
XM_054371403.1 → XP_054227378.1 epidermal growth factor receptor kinase substrate 8 isoform X3

UniProtKB/Swiss-Prot

A6NMC3, A8K6W2, A8KA66, B4DX66, Q12929, Q8N6J0