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

ETV2 - ETS variant transcription factor 2 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as ER71; ETSRP71

Gene ID: 2116 | Gene type: protein coding

About 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.

Summary

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 Products(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
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ETV2 Protein Structure

Ets

Ets: Ets-domain (241 - 321)

  • 0
  • 100
  • 200
  • 300
  • 342 a.a.
Protein Preferred Names Protein Names

ETS translocation variant 2

ets variant gene 2

Related Diseases

Diseases Alias
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
Diseases Alias
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

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS04565 ETV2 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source 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