ETV2 - ETS variant transcription factor 2 Gene

Also Known as ER71; ETSRP71

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2116

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 Verweise 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

Pre-clinical Phase

Bioactive Molecules (4)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-RS04565 ETV2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-174715 Human ETV2 mRNA / Unkown
HY-RS21336 Etv2 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS27855 Etv2 Rat Pre-designed siRNA Set A Pre-designed Set / 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
Others ETV2 NCBI