1. Gene
  2. ETV5 - ETS variant transcription factor 5 Gene

ETV5 - ETS variant transcription factor 5 Gene

中文名称:ETS 变体转录因子 5

种属: Homo sapiens

同用名: ERM

基因 ID: 2119 | 基因类型: protein coding

关于 ETV5

Cytogenetic location: 3q27.2 Genomic coordinates (GRCh38): 3:186,046,314-186,109,089 (from NCBI)

This gene has 14 transcripts (splice variants), 131 orthologues, 28 paralogues and is associated with 62 phenotypes. Broad expression in brain (RPKM 25.8), adrenal (RPKM 22.0) and 23 other tissues.

功能概要

启用 DNA 结合转录激活因子活性、RNA 聚合酶 II 特异性和 RNA 聚合酶 II 转录调节区序列特异性 DNA 结合活性。参与细胞对氧化应激的反应; RNA 聚合酶 II 对转录的负调控;和 RNA 聚合酶 II 对转录的正调控。位于核质中。 [由基因组资源联盟提供,2022 年 4 月]

Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in cellular response to oxidative stress; negative regulation of transcription by RNA polymerase II; and positive regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

ETV5 基因产物(1)

mRNA Protein Name
NM_004454.3 NP_004445.1 ETS translocation variant 5
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular response to oxidative stress IDA
IDA: 通过直接分析推断
19443906 GOA
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
17126306 GOA
involved in positive regulation of transcription by RNA polymerase II IMP
IMP: 通过突变表型推断
15857832 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
19443906 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

ETV5 蛋白结构

ETS_PEA3_N

ETS_PEA3_N: PEA3 subfamily ETS-domain transcription factor N terminal domain (1 - 366)

Ets

Ets: Ets-domain (368 - 449)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 510 a.a.
蛋白主名 其他名称

ETS translocation variant 5

ets-related molecule

ETV5 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
ETV5 P41161 COP1 Homo sapiens Q8NHY2
BioID
35140242
种属内
ETV5 P41161 COP1 Homo sapiens Q8NHY2
Affinity Chrom
35140242
种属内
ETV5 P41161 COP1 Homo sapiens Q8NHY2
Anti Tag CoIP
33961781
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
Acoustic Neuroma

Neurofibromatosis Type 2

Vestibular Schwannoma

Acoustic Neurinoma

Bilateral Acoustic Neurofibromatosis

Nf2

Acoustic Neurilemoma

Cerebellopontine Angle Tumor

Neurofibromatosis Central Type

Neurofibromatosis Type Ii

Vestibular Neurilemmoma

Acoustic Tumor

Neurinoma Of The Acoustic Nerve

Acoustic Neurinoma Bilateral

Acoustic Schwannomas Bilateral

Banf

Central Neurofibromatosis

Familial Acoustic Neuromas

Neurofibromatosis 2

Neurofibromatosis Type 2 Merlin

Schwannoma, Acoustic, Bilateral

Neuroma Acoustic

Neuroma, Acoustic

Familial Acoustic Neuroma

Familial Vestibular Schwannoma

Neurofibromatosis, Central Type

Nf2 - [Neurofibromatosis Type 2]

Charcot-Marie-Tooth Disease, Axonal, Type 2dd

CMT2DD

Charcot-Marie-Tooth Neuropathy, Type 2dd

Charcot-Marie-Tooth Disease Type 2dd

Atp1a1-Related Autosomal Dominant Charcot-Marie-Tooth Disease Type 2

Atp1a1-Related Cmt2

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2dd

Charcot-Marie-Tooth Disease 2dd

Lacrimoauriculodentodigital Syndrome

Ladd Syndrome

Levy-Hollister Syndrome

Lacrimo-Auriculo-Dento-Digital Syndrome

LADD

Lacrimoauriculodento-Digital Syndrome

Levy Hollister Syndrome

Lard Syndrome

Lacrimoauriculoradiodental Syndrome

LADDS

Congenital Duodenal Obstruction Due To Malrotation Of Intestine

Renal Hypodysplasia/Aplasia 1

Renal Agenesis

Renal Adysplasia

Renal Aplasia

RHDA1

Hereditary Renal Aplasia

Hra

Hereditary Urogenital Adysplasia

Hypodysplasia/Aplasia, Renal, Type 1

Congenital Absence Of Kidneys Syndrome

Congenital Absence Of Kidney

Aplastic Kidney

Prostate Cancer

Prostate Carcinoma

Prostate Cancer, Familial

Prostate Neoplasm

Prostate Cancer, Somatic

Prostate Cancer, Susceptibility To

Prostatic Cancer

Prostatic Neoplasms

Hereditary Prostate Cancer

Prostatic Neoplasm

Cancer Of Prostate

Carcinoma Of Prostate

Familial Prostate Cancer

Familial Prostate Carcinoma

Malignant Tumor Of Prostate

Malignant Neoplasm Of Prostate

Prostate Cancer, Familial, Susceptibility To

Malignant Tumor Of The Prostate

Ngp - New Growth Of Prostate

Tumor Of The Prostate

Prostate Cancer, Hereditary

Cancer Of The Prostate

Malignant Neoplasm Of The Prostate

Prostatic Carcinoma

PC

Prca

Cancer, Prostate

Malignant Prostatic Tumour

Malignant Tumour Of Prostate

Primary Prostate Cancer

Primary Malignant Neoplasm Of Prostate

Prostate Gland Cancer

Cleft Palate, Isolated

Cleft Palate

Isolated Cleft Palate

CPI

Cp

Palatoschisis

Cleft Palate Isolated

Uranostaphyloschisis

Congenital Fissure Of Palate

Cleft Of Secondary Palate

Cakut

Renal Or Urinary Tract Malformation

Congenital Anomalies Of Kidney And Urinary Tract

Congenital Anomaly Of Kidney And Urinary Tract

Congenital Anomalies Of The Kidney And Urinary Tract

Kidney And Urinary Tract, Anomalies, Congenital

Renal Hypodysplasia, Nonsyndromic, 1

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
Canis familiaris ETV5 VGNC VGNC:40499
Rattus norvegicus ETV5 RGD RGD:1309590
Mus musculus ETV5 MGD MGI:1096867
Felis catus ETV5 VGNC VGNC:61985
Macaca mulatta ETV5 VGNC VGNC:72443
Bos taurus ETV5 VGNC VGNC:28631