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

EPS8 - epidermal growth factor receptor pathway substrate 8 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：表皮生长因子受体通路底物 8

种属: Homo sapiens

同用名: DFNB102

基因 ID: 2059 | 基因类型: protein coding

关于 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.

功能概要

该基因编码 EPS8 家族的一个成员。该蛋白包含一个 PH 结构域和一个 SH3 结构域。它作为 EGFR 通路的一部分发挥作用，但其确切作用尚未确定。其他生物体中高度相似的蛋白质参与从 Ras 到 Rac 的信号转导和生长因子介导的肌动蛋白重塑。已观察到该基因的替代转录剪接变体，但尚未彻底表征。[RefSeq 提供，2008 年 7 月]

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 基因产物(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 蛋白结构

PTB

PTB: Phosphotyrosine-binding domain (64 - 194)

SH3_1

SH3_1: SH3 domain (539 - 581)

  • 0
  • 200
  • 400
  • 600
  • 822 a.a.
蛋白主名 其他名称

epidermal growth factor receptor kinase substrate 8

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (4)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS04454 EPS8 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS04455 EPS8L1 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS04456 EPS8L2 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS04457 EPS8L3 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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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