1. Gene
  2. ETV2 - ETS variant transcription factor 2 Gene

ETV2 - ETS variant transcription factor 2 Gene

中文名称:ETS 变体转录因子 2

种属: Homo sapiens

同用名: ER71; ETSRP71

基因 ID: 2116 | 基因类型: protein coding

关于 ETV2

Cytogenetic location: 19q13.12 Genomic coordinates (GRCh38): 19:35,641,745-35,644,871 (from NCBI)

This gene has 6 transcripts (splice variants), 87 orthologues and 28 paralogues. Biased expression in testis (RPKM 2.5), duodenum (RPKM 0.3) and 9 other tissues.

功能概要

启用序列特异性双链 DNA 结合活性。预测通过 RNA 聚合酶 II 参与细胞分化和转录调控。预测作用于多个过程的上游或内部,包括细胞表面受体信号通路;内皮细胞分化的正调节;和大分子代谢过程的正向调控。预计活跃于核心。 [由基因组资源联盟提供,2022 年 4 月]

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in cell differentiation and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including cell surface receptor signaling pathway; positive regulation of endothelial cell differentiation; and positive regulation of macromolecule metabolic process. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]

ETV2 基因产物(3)

mRNA Protein Name
NM_001300974.2 NP_001287903.1 ETS translocation variant 2 isoform 2
NM_001304549.2 NP_001291478.1 ETS translocation variant 2 isoform 3
NM_014209.4 NP_055024.2 ETS translocation variant 2 isoform 1
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 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

ETV2 蛋白结构

Ets

Ets: Ets-domain (241 - 321)

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

ETS translocation variant 2

ets variant gene 2

关联疾病

疾病名称 别名
Spondylocostal Dysostosis 1, Autosomal Recessive

Jarcho-Levin Syndrome

SCDO1

Vertebral Anomalies

Spondylothoracic Dysplasia

Costovertebral Dysplasia

Spondylothoracic Dysostosis

Spondylocostal Dysostosis 1

Autosomal Recessive Spondylocostal Dysostosis 1

Spondylocostal Dysostosis, Autosomal Recessive, 1

Doid:0112365

Dysostosis, Spondylocostal, Autosomal Recessive, Type 1

Hypoplastic Left Heart Syndrome

Hlhs

Heart, Hypoplastic Left, Syndrome

Hypoplasia Of The Left Heart

Left Heart Hypoplasia Syndrome

Hlhs - [Hypoplastic Left Heart Syndrome]

Hypoplasia Of Aortic Valve, In Hypoplastic Left Heart Syndrome

Atresia Of Mitral Valve, In Hypoplastic Left Heart Syndrome

Atresia Or Marked Hypoplasia Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle

Atresia Or Marked Hypoplasia, Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle With Mitral Valve Atresia

Aortic Valve Atresia, In Hypoplastic Left Heart Syndrome

Ascending Aorta Hypoplasia, In Hypoplastic Left Heart Syndrome

Polydactyly

Non-Syndromic Polydactyly

Polydactyly, Postaxial

Postaxial Polydactyly

Supernumerary Digit

Extra Digits

Hyperdactyly

Polydactylia

Polydactylism

Supernumerary Digits

Heart, Malformation Of
Heart Disease

Heart Failure

Congenital Heart Disease

Heart Diseases

Congenital Heart Defects

Congenital Heart Defect

Heart Malformation

Congenital Anomaly Of Heart

Heart Defect

Heart-Congenital Defect

Congenital Heart Disorder

Heart Defects Congenital

Heart Defects, Congenital

Heart Defects

Heart Disease, Congenital

Disease, Heart, Congenital

Congestive Heart Failure

Developmental And Epileptic Encephalopathy 17

DEE17

Epileptic Encephalopathy, Early Infantile, 17

Eiee17

Developmental And Epileptic Encephalopathy, 17

Early Infantile Epileptic Encephalopathy 17

Developmental And Epileptic Encephalopathy, Type 17

Cerebral Cavernous Malformations

Cerebral Cavernous Malformation

Cavernous Malformations Of Cns And Retina

Cerebral Cavernous Malformation 1

Cavernous Angiomatous Malformations

Cerebral Capillary Malformations

CCM

Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations

Familial Cavernous Angioma

Cavernous Angioma

Familial Cerebral Cavernous Malformation

Cerebral Cavernous Malformations 1

Cavernous Angioma, Familial

Cam

Cerebral Cavernous Malformations-1

Cavernoma

Central Nervous System Cavernous Hemangioma

Cerebral Cavernous Hemangioma

Familial Cavernous Hemangioma

Familial Cavernous Malformation

Familial Cerebral Cavernous Angioma

Intracerebral Cavernous Hemangioma

CCM1

Cavernous Hemangioma Of The Brain

Cerebral Cavernoma

Cerebral Cavernous Malformations, Type 1

Hemangioma, Cavernous, Central Nervous System

Hemangioma, Cavernous

Angioma, Cavernous

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
Bos taurus ETV2 VGNC VGNC:28629
Mus musculus ETV2 MGD MGI:99253
Felis catus ETV2 VGNC VGNC:61983
Rattus norvegicus ETV2 RGD RGD:1310603
Canis familiaris ETV2 VGNC VGNC:40497
Macaca mulatta ETV2 VGNC VGNC:72441