EPS8 - epidermal growth factor receptor pathway substrate 8 Gene

Homo sapiens

Also known as DFNB102

Gene ID: 2059 | Gene type: protein coding

About EPS8

Cytogenetic location: 12p12.3 Genomic coordinates (GRCh38): 12:15,620,134-15,789,388 (from NCBI)

This gene has 27 transcripts (splice variants), 220 orthologues, 3 paralogues and is associated with 1 phenotype. Ubiquitous expression in gall bladder (RPKM 34.8), fat (RPKM 34.0) and 24 other tissues.

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]

EPS8 Products(11)

mRNA	Protein	Name
NM_001413831.1	NP_001400760.1	epidermal growth factor receptor kinase substrate 8 isoform a
NM_001413832.1	NP_001400761.1	epidermal growth factor receptor kinase substrate 8 isoform b
NM_001413833.1	NP_001400762.1	epidermal growth factor receptor kinase substrate 8 isoform b
NM_001413834.1	NP_001400763.1	epidermal growth factor receptor kinase substrate 8 isoform b
NM_001413835.1	NP_001400764.1	epidermal growth factor receptor kinase substrate 8 isoform c
NM_001413836.1	NP_001400765.1	epidermal growth factor receptor kinase substrate 8 isoform c
NM_001413837.1	NP_001400766.1	epidermal growth factor receptor kinase substrate 8 isoform d
NM_001413838.1	NP_001400767.1	epidermal growth factor receptor kinase substrate 8 isoform e
NM_001413839.1	NP_001400768.1	epidermal growth factor receptor kinase substrate 8 isoform f
NM_001413840.1	NP_001400769.1	epidermal growth factor receptor kinase substrate 8 isoform g
NM_004447.6	NP_004438.3	epidermal growth factor receptor kinase substrate 8 isoform b

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	15289329	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EPS8 Protein Structure

PTB

SH3_1

0
200
400
600
822 a.a.

Protein Preferred Names

Protein Names

epidermal growth factor receptor kinase substrate 8

EPS8 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	EPS8	Q12929	GOLGA8DP	Homo sapiens	Q0D2H9	Y2H Prey Pooling	25416956
Intra	EPS8	Q12929	BORCS6	Homo sapiens	Q96GS4	Y2H Array	25416956
Intra	EPS8	Q12929	BORCS6	Homo sapiens	Q96GS4	Y2H Prey Pooling	25416956
Intra	EPS8	Q12929	RUNX1T1	Homo sapiens	Q06455-4	Validated Y2H	25416956
Intra	EPS8	Q12929	RUNX1T1	Homo sapiens	Q06455-4	Y2H Array	25416956
Intra	EPS8	Q12929	INPP5J	Homo sapiens	Q15735	Y2H Array	25416956
Intra	EPS8	Q12929	INPP5J	Homo sapiens	Q15735	Validated Y2H	25416956
Intra	EPS8	Q12929	INPP5J	Homo sapiens	Q15735	Y2H Prey Pooling	25416956
Intra	EPS8	Q12929	EGFR	Homo sapiens	P00533	Ub Reconstruction	24658140
Intra	EPS8	Q12929	HNRNPC	Homo sapiens	P07910	Validated Y2H	25416956
Intra	EPS8	Q12929	HNRNPC	Homo sapiens	P07910	Y2H Array	25416956
Intra	EPS8	Q12929	BYSL	Homo sapiens	Q13895	Y2H Array	25416956
Intra	EPS8	Q12929	BYSL	Homo sapiens	Q13895	Validated Y2H	25416956
Intra	EPS8	Q12929	GRB2	Homo sapiens	P62993	Validated Y2H	25416956
Intra	EPS8	Q12929	SMARCE1	Homo sapiens	Q969G3	Validated Y2H	25416956
Intra	EPS8	Q12929	SMARCE1	Homo sapiens	Q969G3	Y2H Array	25416956
Intra	EPS8	Q12929	SMARCE1	Homo sapiens	Q969G3	Y2H Prey Pooling	25416956
Intra	EPS8	Q12929	BAIAP2	Homo sapiens	Q9UQB8	Anti Bait CoIP	19564905
Intra	EPS8	Q12929	BAIAP2	Homo sapiens	Q9UQB8	Pull Down	15289329
Intra	EPS8	Q12929	BAIAP2	Homo sapiens	Q9UQB8	Validated Y2H	25416956
Intra	EPS8	Q12929	BAIAP2	Homo sapiens	Q9UQB8	Anti Tag CoIP	33961781
Intra	EPS8	Q12929	BAIAP2	Homo sapiens	Q9UQB8	Y2H Pooling	16189514
Intra	EPS8	Q12929	BAIAP2	Homo sapiens	Q9UQB8	Y2H Array	25416956
Intra	EPS8	Q12929	BAIAP2	Homo sapiens	Q9UQB8	Y2H Prey Pooling	25416956
Intra	EPS8	Q12929	BAIAP2	Homo sapiens	Q9UQB8-4	Anti Bait CoIP	24076653
Intra	EPS8	Q12929	ALDH7A1	Homo sapiens	P49419	Pull Down	21988832
Intra	EPS8	Q12929	C19orf25	Homo sapiens	Q9UFG5	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Deafness, Autosomal Recessive 102

DFNB102	Autosomal Recessive Nonsyndromic Deafness 102
Autosomal Recessive Deafness 102	Deafness, Autosomal Recessive, 102
Deafness, Autosomal Recessive, Type 102

Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb	Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb
Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb	Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb
Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb	Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb
Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb

Autosomal Recessive Nonsyndromic Deafness

Deafness, Autosomal Recessive, Nonsyndromic

Deafness, Autosomal Recessive

Usher Syndrome, Type I

USH1	Usher Syndrome Type 1
Us1	Usher Syndrome, Type 1b
Usher Syndrome Type 1e	Retinitis Pigmentosa And Congenital Deafness
Usher Syndrome, Type Ie	USH1E
Usher Syndrome, Type 1e	Usher Syndrome, Type 1a
Usher Syndrome, Type Ib	Usher Syndrome Type 1b
Usher Syndrome Type Ie	Usher Syndrome Type I
Usher 1	Usher Syndrome, Type 1
Ush1a	Usher Syndrome, Type I, French Variety
Usher Syndrome, Type Ia	Usher Syndrome 1b
USH1B	Usher'S Syndrome Type 1b
Usher Syndrome Type Ib	Ushib

Autosomal Recessive Nonsyndromic Deafness 3

Autosomal Recessive Deafness 3, Neurosensory Nonsyndromic Recessive Deafness 3	Dfnb3
Nrsd3	Deafness, Autosomal Recessive 3

Usher Syndrome

Deafness-Retinitis Pigmentosa Syndrome	Dystrophia Retinae Pigmentosa-Dysostosis Syndrome
Graefe-Usher Syndrome	Hallgren Syndrome
Usher'S Syndrome	Retinitis Pigmentosa-Deafness Syndrome
Retinitis Pigmentosa-Hearing Loss Syndrome	Ush
Usher Syndromes

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04454	EPS8 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS04455	EPS8L1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS04456	EPS8L2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS04457	EPS8L3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	EPS8	VGNC	VGNC:28555
Mus musculus	EPS8	MGD	MGI:104684
Macaca mulatta	EPS8	VGNC	VGNC:72249
Canis familiaris	EPS8	VGNC	VGNC:40427
Felis catus	EPS8	VGNC	VGNC:61920
Rattus norvegicus	EPS8	RGD	RGD:1310590

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