1. Gene
  2. EPS8L2 - EPS8 like 2 Gene

EPS8L2 - EPS8 like 2 Gene

中文名称:EPS8 样 2

种属: Homo sapiens

同用名: EPS8R2; DFNB106

基因 ID: 64787 | 基因类型: protein coding

关于 EPS8L2

Cytogenetic location: 11p15.5 Genomic coordinates (GRCh38): 11:706,231-727,727 (from NCBI)

This gene has 31 transcripts (splice variants), 199 orthologues, 3 paralogues and is associated with 2 phenotypes. Broad expression in kidney (RPKM 41.5), small intestine (RPKM 39.9) and 18 other tissues.

功能概要

该基因编码 EPS8 基因家族的成员。与该家族的其他成员一样,编码的蛋白质被认为将生长因子刺激与肌动蛋白组织联系起来,在调节肌动蛋白细胞骨架重塑的途径中产生功能冗余。[RefSeq 提供,2008 年 12 月]

This gene encodes a member of the EPS8 gene family. The encoded protein, like Other members of the family, is thought to link growth factor stimulation to actin organization, generating functional redundancy in the pathways that regulate actin cytoskeletal remodeling. [provided by RefSeq, Dec 2008]

EPS8L2 基因产物(1)

mRNA Protein Name
NM_022772.4 NP_073609.2 epidermal growth factor receptor kinase substrate 8-like protein 2
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables actin binding IDA
IDA: 通过直接分析推断
14565974 GOA
contributes to guanyl-nucleotide exchange factor activity IDA
IDA: 通过直接分析推断
14565974 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
14565974 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in Rho protein signal transduction IDA
IDA: 通过直接分析推断
14565974 GOA
involved in positive regulation of ruffle assembly IGI
IGI: 通过遗传相互作用推断
14565974 GOA
involved in regulation of Rho protein signal transduction IDA
IDA: 通过直接分析推断
14565974 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of protein-containing complex IDA
IDA: 通过直接分析推断
14565974 GOA
located in ruffle membrane IDA
IDA: 通过直接分析推断
14565974 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

EPS8L2 蛋白结构

PTB

PTB: Phosphotyrosine-binding domain (51 - 181)

SH3_1

SH3_1: SH3 domain (500 - 543)

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

epidermal growth factor receptor kinase substrate 8-like protein 2

EPS8-related protein 2

EPS8L2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra EPS8L2 Q9H6S3 KIF1B Homo sapiens O60333-2
Y2H Pooling
32814053
Intra EPS8L2 Q9H6S3 KIF1B Homo sapiens O60333-2
Validated Y2H
32814053
Intra EPS8L2 Q9H6S3 KIF1B Homo sapiens O60333-2
Y2H Array
32814053
Intra EPS8L2 Q9H6S3 DMWD Homo sapiens G5E9A7
Validated Y2H
32814053
Intra EPS8L2 Q9H6S3 DMWD Homo sapiens G5E9A7
Y2H Array
32814053
Intra EPS8L2 Q9H6S3 DMWD Homo sapiens G5E9A7
Y2H Pooling
32814053
Intra EPS8L2 Q9H6S3 CTSD Homo sapiens P07339
Validated Y2H
32814053
Intra EPS8L2 Q9H6S3 CTSD Homo sapiens P07339
Y2H Array
32814053
Intra EPS8L2 Q9H6S3 CTSD Homo sapiens P07339
Y2H Pooling
32814053
Intra EPS8L2 Q9H6S3 NEFL Homo sapiens P07196
Validated Y2H
32814053
Intra EPS8L2 Q9H6S3 NEFL Homo sapiens P07196
Y2H Array
32814053
Intra EPS8L2 Q9H6S3 NEFL Homo sapiens P07196
Y2H Pooling
32814053
Intra EPS8L2 Q9H6S3 SPRED1 Homo sapiens Q7Z699
Validated Y2H
32814053
Intra EPS8L2 Q9H6S3 SPRED1 Homo sapiens Q7Z699
Y2H Array
32814053
Intra EPS8L2 Q9H6S3 SPRED1 Homo sapiens Q7Z699
Y2H Pooling
32814053
Intra EPS8L2 Q9H6S3 WFS1 Homo sapiens O76024
Validated Y2H
32814053
Intra EPS8L2 Q9H6S3 WFS1 Homo sapiens O76024
Y2H Array
32814053
Intra EPS8L2 Q9H6S3 WFS1 Homo sapiens O76024
Y2H Pooling
32814053
Intra EPS8L2 Q9H6S3 GRN Homo sapiens P28799
Y2H Array
32814053
Intra EPS8L2 Q9H6S3 GRN Homo sapiens P28799
Y2H Pooling
32814053
Intra EPS8L2 Q9H6S3 GRN Homo sapiens P28799
Validated Y2H
32814053
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Deafness, Autosomal Recessive 106

DFNB106

Deafness Autosomal Recessive 106

Deafness, Autosomal Recessive, 106

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

Deafness, Autosomal Dominant 67

DFNA67

Autosomal Dominant Nonsyndromic Deafness 67

Autosomal Dominant Deafness 67

Deafness, Autosomal Dominant, 67

Deafness, Autosomal Dominant, Type 67

Deafness, Autosomal Recessive 102

DFNB102

Autosomal Recessive Nonsyndromic Deafness 102

Autosomal Recessive Deafness 102

Deafness, Autosomal Recessive, 102

Deafness, Autosomal Recessive, Type 102

Autosomal Dominant Nonsyndromic Deafness 74

Dfna74

Deafness, Autosomal Dominant 68

DFNA68

Autosomal Dominant Nonsyndromic Deafness 68

Autosomal Dominant Deafness 68

Deafness, Autosomal Dominant, 68

Deafness, Autosomal Dominant 44

DFNA44

Autosomal Dominant Nonsyndromic Deafness 44

Autosomal Dominant Deafness 44

Deafness, Autosomal Dominant, 44

Deafness, Autosomal Dominant, Type 44

Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency

Autosomal Dominant Nonsyndromic Deafness

Autosomal Dominant Deafness

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

直系同源

种属 基因名 来源 基因 ID
Felis catus EPS8L2 VGNC VGNC:61922
Rattus norvegicus EPS8L2 RGD RGD:1310912
Canis familiaris EPS8L2 VGNC VGNC:40429
Macaca mulatta EPS8L2 VGNC VGNC:72081
Mus musculus EPS8L2 MGD MGI:2138828
Bos taurus EPS8L2 VGNC VGNC:58372