1. Gene
  2. EYA3 - EYA transcriptional coactivator and phosphatase 3 Gene

EYA3 - EYA transcriptional coactivator and phosphatase 3 Gene

中文名称:EYA 转录共激活因子和磷酸酶 3

种属: Homo sapiens

基因 ID: 2140 | 基因类型: protein coding

关于 EYA3

Cytogenetic location: 1p35.3 Genomic coordinates (GRCh38): 1:27,970,344-28,088,610 (from NCBI)

This gene has 8 transcripts (splice variants), 207 orthologues and 3 paralogues. Ubiquitous expression in testis (RPKM 6.3), kidney (RPKM 5.2) and 25 other tissues.

功能概要

该基因编码眼睛缺失 (EYA) 蛋白家族的成员。编码的蛋白质可以作为转录激活剂,并在发育过程中发挥作用。它可以作为尤文肉瘤细胞中化学抗性和细胞存活的介质,其中该基因通过与转录本 3' UTR 结合的微 RNA 上调。小鼠中的一种类似蛋白质充当转录激活剂。该基因的可变剪接导致多个转录变体。[RefSeq 提供,2013 年 9 月]

This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator and have a role during development. It can act as a mediator of chemoresistance and cell survival in Ewing sarcoma cells, where this gene is up-regulated via a micro-RNA that binds to the 3' UTR of the transcript. A similar protein in mice acts as a transcriptional activator. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2013]

EYA3 基因产物(4)

mRNA Protein Name
NM_001282560.2 NP_001269489.1 eyes absent homolog 3 isoform b
NM_001282561.2 NP_001269490.1 eyes absent homolog 3 isoform c
NM_001282562.2 NP_001269491.1 eyes absent homolog 3 isoform d
NM_001990.4 NP_001981.2 eyes absent homolog 3 isoform a
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 histone H2AXY142 phosphatase activity IDA
IDA: 通过直接分析推断
19234442 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
19234442 GOA
enables protein tyrosine phosphatase activity IDA
IDA: 通过直接分析推断
19234442 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in double-strand break repair IMP
IMP: 通过突变表型推断
19234442 GOA
involved in positive regulation of DNA repair IMP
IMP: 通过突变表型推断
19234442 GOA
involved in response to ionizing radiation IDA
IDA: 通过直接分析推断
19234442 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
19234442 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
蛋白主名 其他名称

eyes absent homolog 3

eyes absent 3

EYA3 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
种属内
EYA3 Q99504 DNM2 Homo sapiens P50570-2
Y2H Array
32814053
种属内
EYA3 Q99504 DNM2 Homo sapiens P50570-2
Y2H Pooling
32814053
种属内
EYA3 Q99504 DNM2 Homo sapiens P50570-2
Validated Y2H
32814053
种属内
EYA3 Q99504 KIF1B Homo sapiens O60333-2
Validated Y2H
32814053
种属内
EYA3 Q99504 KIF1B Homo sapiens O60333-2
Y2H Array
32814053
种属内
EYA3 Q99504 KIF1B Homo sapiens O60333-2
Y2H Pooling
32814053
种属内
EYA3 Q99504 MECP2 Homo sapiens P51608
Validated Y2H
32814053
种属内
EYA3 Q99504 MECP2 Homo sapiens P51608
Y2H Array
32814053
种属内
EYA3 Q99504 MECP2 Homo sapiens P51608
Y2H Pooling
32814053
种属内
EYA3 Q99504 APBB2 Homo sapiens Q92870-2
Validated Y2H
32814053
种属内
EYA3 Q99504 APBB2 Homo sapiens Q92870-2
Y2H Array
32814053
种属内
EYA3 Q99504 APBB2 Homo sapiens Q92870-2
Y2H Pooling
32814053
种属内
EYA3 Q99504 RNF11 Homo sapiens Q9Y3C5
Validated Y2H
32814053
种属内
EYA3 Q99504 RNF11 Homo sapiens Q9Y3C5
Y2H Pooling
32814053
种属内
EYA3 Q99504 RNF11 Homo sapiens Q9Y3C5
Y2H Array
32814053
种属内
EYA3 Q99504 NEFL Homo sapiens P07196
Validated Y2H
32814053
种属内
EYA3 Q99504 NEFL Homo sapiens P07196
Y2H Pooling
32814053
种属内
EYA3 Q99504 NEFL Homo sapiens P07196
Y2H Array
32814053
种属内
EYA3 Q99504 PMP22 Homo sapiens A0A6Q8PF08
Validated Y2H
32814053
种属内
EYA3 Q99504 PMP22 Homo sapiens A0A6Q8PF08
Y2H Pooling
32814053
种属内
EYA3 Q99504 PMP22 Homo sapiens A0A6Q8PF08
Y2H Array
32814053
种属内
EYA3 Q99504 PECAM1 Homo sapiens P16284
Y2H Array
32814053
种属内
EYA3 Q99504 PECAM1 Homo sapiens P16284
Validated Y2H
32814053
种属内
EYA3 Q99504 PECAM1 Homo sapiens P16284
Y2H Pooling
32814053
种属内
EYA3 Q99504 WFS1 Homo sapiens O76024
Y2H Pooling
32814053
种属内
EYA3 Q99504 WFS1 Homo sapiens O76024
Validated Y2H
32814053
种属内
EYA3 Q99504 WFS1 Homo sapiens O76024
Y2H Array
32814053
种属内
EYA3 Q99504 ATP1A3 Homo sapiens P13637
Validated Y2H
32814053
种属内
EYA3 Q99504 ATP1A3 Homo sapiens P13637
Y2H Pooling
32814053
种属内
EYA3 Q99504 ATP1A3 Homo sapiens P13637
Y2H Array
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
Ewing Sarcoma

Neuroepithelioma

Ewing'S Tumor

Primitive Neuroectodermal Tumor

Ewings Sarcoma

Ewing'S Sarcoma

Peripheral Neuroepithelioma

ES

Ewings Sarcoma-Primitive Neuroectodermal Tumor

Localized Peripheral Primitive Neuroectodermal Tumor

Peripheral Primitive Neuroectodermal Tumor

Ewing Tumor

Sarcoma, Ewing'S

Ewing Family Of Tumors

Extraosseous Ewing Tumor

Askin Tumor

Ewing'S Family Localized Tumor

Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor

Localized Ewing Sarcoma

Localized Ewing'S Sarcoma

Localized Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor

Localized Ewing'S Tumor

Pnet Of Thoracopulmonary Region

Tumor Of The Ewing Family

Skeletal Ewing Sarcoma

Osseous Ewing Sarcoma

Ppnet

Peripheral Pnet

Extraskeletal Ewing Sarcoma

Eoe

Extraosseous Ewing Sarcoma

Extraskeletal Ewing Tumor

Esft

Ewing Sarcoma Family Of Tumors

Pne

Pnet

Pnet Of The Chest Wall

Sarcoma, Ewing

Neuroectodermal Tumors, Primitive, Peripheral

Neuroectodermal Tumor, Primitive

Disorder Of Eye

Askin'S Tumor

Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor

Neuroepithelioma, Peripheral

Deafness, Autosomal Dominant 10

DFNA10

Autosomal Dominant Nonsyndromic Deafness 10

Autosomal Dominant Deafness 10

Deafness, Autosomal Dominant, 10

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 10

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 10

Deafness, Autosomal Dominant, Type 10

Sarcoma

Connective And Soft Tissue Neoplasm

Tumor Of Soft Tissue And Skeleton

Sarcomas

Sarcoma - Category

Branchiootic Syndrome

Bo Syndrome

Branchiootic Dysplasia

Bor

Bo Syndrome 1

Bos1

Branchiootic Syndrome 1

Branchiootorenal Syndrome

Branchio-Oto-Renal Syndrome

Bor Syndrome

Branchiootorenal Dysplasia

Melnick-Fraser Syndrome

Branchiootorenal Spectrum Disorders

Branchio-Otorenal Dysplasia

Branchio Oto Renal Syndrome

Branchiootorenal/Branchiootic Syndrome

Bo Syndrome

Bor

Bos

Branchio-Otorenal Syndrome

Branchiootic Syndrome

Branchiootorenal Syndrome

Branchiootic Syndrome 1

Microphthalmia

Microphthalmos

Isolated Anophthalmia-Microphthalmia Syndrome

Isolated Microphthalmia-Anophthalmia-Coloboma

Simple Microphthalmos

Clinical Anophthalmia

Isolated Anophthalmia - Microphthalmia

Isolated Pure Microphthalmia

Mac Spectrum

Microphthalmia-Anophthalmia-Coloboma Spectrum

Primitive Anophthalmia

Globe Of Eye Small

Small Eyeball

Hypoplasia Of Eye

Isolated Nanophthalmos

Rudimentary Eye

Dysplasia Of Eye

Williams-Beuren Syndrome

Williams Syndrome

WBS

Wms

Deletion 7q11.23

Monosomy 7q11.23

Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

Fanconi Schlesinger Syndrome

Beuren Syndrome

Elfin Facies Syndrome

Elfin Facies With Hypercalcemia

Hypercalcemia-Supravalvar Aortic Stenosis

Ws

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
Mus musculus EYA3 MGD MGI:109339
Rattus norvegicus EYA3 RGD RGD:1309932
Canis familiaris EYA3 VGNC VGNC:40538
Macaca mulatta EYA3 VGNC VGNC:72455
Felis catus EYA3 VGNC VGNC:62015
Bos taurus EYA3 VGNC VGNC:28672