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

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

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	Purity	Rare Diseases
HY-RS04454	EPS8 Human Pre-designed siRNA Set A	/	Unkown
HY-RS04455	EPS8L1 Human Pre-designed siRNA Set A	/	Unkown
HY-RS04456	EPS8L2 Human Pre-designed siRNA Set A	/	Unkown
HY-RS04457	EPS8L3 Human Pre-designed siRNA Set A	/	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

Name
Email *

	Sorry, but the email address you supplied was invalid.