ETV2 - ETS variant transcription factor 2 Gene

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

ETV2 Protein Structure

Ets

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04565	ETV2 Human Pre-designed siRNA Set A		/	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