1. Gene
  2. EPS8 - epidermal growth factor receptor pathway substrate 8 Gene

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

PTB: Phosphotyrosine-binding domain (64 - 194)

SH3_1

SH3_1: SH3 domain (539 - 581)

  • 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
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

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